STRIDE-DB

Repeat Length	AFR	AMR	EUR	EAS	SAS	Repeat
19.3	134	186	265	169	315	AGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
3.3	0	2	0	0	0	AGCAACAGCA
4.3	1	1	0	0	0	AGCAACAGCAACA
5.3	0	0	5	0	0	AGCAACAGCAACAGCA
6.0	1	0	0	0	0	AGCAACAGCAACAGCAGC
6.3	1	2	2	3	0	AGCAACAGCAACAGCAGCA
7.3	4	6	6	5	0	AGCAACAGCAACAGCAGCAGCA
8.3	6	6	0	4	1	AGCAACAGCAACAGCAGCAGCAGCA
9.3	8	8	3	12	5	AGCAACAGCAACAGCAGCAGCAGCAGCA
10.3	6	8	7	5	7	AGCAACAGCAACAGCAGCAGCAGCAGCAGCA
11.3	0	10	15	22	9	AGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCA
13.3	122	3	6	17	29	AGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCA
12.3	70	56	140	40	139	AGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAGCA
14.3	23	45	111	208	60	AGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
15.3	94	18	8	26	9	AGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
16.0	0	0	1	0	0	AGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
17.3	345	61	14	15	30	AGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
18.3	85	40	50	15	114	AGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
16.3	336	53	16	19	92	AGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
20.3	15	38	117	37	94	AGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
20.7	1	0	0	0	0	AGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
21.3	8	10	19	66	27	AGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
22.3	4	5	10	48	28	AGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
23.3	0	4	3	16	9	AGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
24.3	1	2	4	9	6	AGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
25.3	1	0	0	3	2	AGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
26.3	0	0	0	1	0	AGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA

Position	Disease/Trait	P-value	SNPs	Location with respect to STR	distance	Study
12:6996683	Systolic blood pressure x educational attainment (some college) interaction (2df),	6.0E-9	rs75535814	downstream	-49198	Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci.
12:6997808	Corneal astigmatism,	1.0E-6	rs112947941	downstream	-48073	Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.
12:6997808	Low myopia vs hyperopia,	5.0E-15	rs112947941	downstream	-48073	Evaluation of Shared Genetic Susceptibility to High and Low Myopia and Hyperopia.
12:6997808	Hyperopia,	4.0E-13	rs112947941	downstream	-48073	Evaluation of Shared Genetic Susceptibility to High and Low Myopia and Hyperopia.
12:6998269	Red cell distribution width,	5.0E-8	rs143703503	downstream	-47612	Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
12:7015117	Lung function (FEV1/FVC),	6.0E-6	rs149662873	downstream	-30764	Meta-analysis of exome array data identifies six novel genetic loci for lung function.
12:7033592	Mean corpuscular hemoglobin concentration,	6.0E-13	rs7310941	downstream	-12289	A cross-population atlas of genetic associations for 220 human phenotypes.
12:7055380	Height,	2.0E-8	rs741090	upstream	9499	Characterizing rare and low-frequency height-associated variants in the Japanese population.
12:7058581	High-sensitivity cardiac troponin I concentration,	7.0E-6	rs117155472	upstream	12700	Identification of Functional Genetic Determinants of Cardiac Troponin T and I in a Multiethnic Population and Causal Associations With Atrial Fibrillation.
12:7065406	Response to paliperidone in schizophrenia (Multivariate),	6.0E-6	rs7963446	upstream	19525	Genome-wide association study of paliperidone efficacy.
12:7071129	Mean corpuscular hemoglobin concentration,	4.0E-10	rs113837888	upstream	25248	Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
12:7073805	Mean corpuscular hemoglobin concentration,	2.0E-12	rs16933011	upstream	27924	Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.
12:7075882	Glycated hemoglobin levels,	6.0E-7	rs2110073	upstream	30001	The trans-ancestral genomic architecture of glycemic traits.
12:7075882	Glycated hemoglobin levels,	6.0E-9	rs2110073	upstream	30001	The trans-ancestral genomic architecture of glycemic traits.
12:7075882	Red blood cell fatty acid levels,	3.0E-49	rs2110073	upstream	30001	A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.
12:7075882	Glycated hemoglobin levels,	4.0E-8	rs2110073	upstream	30001	Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.
12:7079563	Mean corpuscular hemoglobin concentration,	4.0E-13	rs73264607	upstream	33682	A cross-population atlas of genetic associations for 220 human phenotypes.
12:7085171	Oleic acid (18:1n-9) levels,	2.0E-8	rs12579775	upstream	39290	Discovery and fine-mapping of loci associated with MUFAs through trans-ethnic meta-analysis in Chinese and European populations.
12:7085171	Mean corpuscular hemoglobin concentration,	5.0E-12	rs12579775	upstream	39290	Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.
12:7087711	Alkenylphosphatidylcholine (P-18:0/20:4) levels,	2.0E-7	rs56157656	upstream	41830	Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.
12:7087711	Alkenylphosphatidylcholine (P-38:5) (a) levels,	2.0E-8	rs56157656	upstream	41830	Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.
12:7087711	Alkenylphosphatidylcholine (P-36:3) levels,	5.0E-9	rs56157656	upstream	41830	Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.
12:7089613	Hemoglobin A1c levels,	2.0E-17	rs61170325	upstream	43732	A cross-population atlas of genetic associations for 220 human phenotypes.

Flanking region : 5 kb 10 kb 50 kb

Position	HGVS	dbSNP id	Phenotype List	Distance	Clinvar Significance
12:7026736	NM_001975.3(ENO2):c.311-9A>C	rs141344525	not provided	-19145	Benign
12:7031565	NM_001975.3(ENO2):c.1235+2_1235+5dup	NA	Hereditary breast ovarian cancer syndrome	-14316	Uncertain significance
12:7044838	NM_001940.4(ATN1):c.408C>T (p.Tyr136=)	rs147993402	not specified	-1043	Uncertain significance
12:7044838	NM_001940.4(ATN1):c.408C>T (p.Tyr136=)	rs147993402	not specified	-1043	Uncertain significance
12:7044943	NM_001940.4(ATN1):c.513G>A (p.Pro171=)	NA	not provided	-938	Benign
12:7044983	NM_001940.4(ATN1):c.553C>G (p.Pro185Ala)	rs201262663	not provided	-898	Uncertain significance
12:7045136	NM_001940.4(ATN1):c.706A>C (p.Lys236Gln)	rs200232074	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	-745	Likely benign
12:7045178	NM_001940.4(ATN1):c.748G>A (p.Gly250Ser)	NA	not provided	-703	Benign
12:7045879	NM_001007026.1(ATN1):c.1462CAG[23] (p.Gln488[23])	rs193922934	not specified	-2	Likely benign
12:7045891	NM_001940.4(ATN1):c.1461A>G (p.Gln487=)	rs150855426	not specified	10	Uncertain significance
12:7045891	NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17])	rs60216939	not specified\|Dentatorubral-pallidoluysian atrophy\|not provided	10	Conflicting interpretations of pathogenicity
12:7045891	NM_001940.4(ATN1):c.1461A>G (p.Gln487=)	rs150855426	not specified	10	Uncertain significance
12:7045891	NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17])	rs60216939	not specified\|Dentatorubral-pallidoluysian atrophy\|not provided	10	Conflicting interpretations of pathogenicity
12:7045891	NM_001940.4(ATN1):c.1464GCA[16] (p.Gln502dup)	rs60216939	not specified\|not provided	10	Benign
12:7045891	NM_001940.4(ATN1):c.1464GCA[21] (p.Gln497_Gln502dup)	rs60216939	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	10	Likely benign
12:7045892	NM_001007026.1(ATN1):c.1462CAG[49_55] (p.Gln488[49_55])	rs60216939	Dentatorubral-pallidoluysian atrophy	11	Pathogenic
12:7045892	NM_001007026.1(ATN1):c.1462CAG[(6_35)] (p.Gln488[(6-35)])	NA	Dentatorubral-pallidoluysian atrophy	11	Benign
12:7045892	NM_001007026.1(ATN1):c.1462CAG[(90_93)] (p.Gln488[(90-93)])	NA	Dentatorubral-pallidoluysian atrophy	11	Pathogenic
12:7045892	NM_001007026.1(ATN1):c.1462CAG[49_55] (p.Gln488[49_55])	rs60216939	Dentatorubral-pallidoluysian atrophy	11	Pathogenic
12:7045892	NM_001007026.1(ATN1):c.1462CAG[(6_35)] (p.Gln488[(6-35)])	NA	Dentatorubral-pallidoluysian atrophy	11	Benign
12:7045892	NM_001007026.1(ATN1):c.1462CAG[(90_93)] (p.Gln488[(90-93)])	NA	Dentatorubral-pallidoluysian atrophy	11	Pathogenic
12:7045892	NM_001940.4(ATN1):c.1464GCA[8] (p.Gln496_Gln502del)	rs60216939	not specified\|not provided	11	Uncertain significance
12:7045892	NM_001940.4(ATN1):c.1464GCA[10] (p.Gln498_Gln502del)	NA	not provided\|Dentatorubral-pallidoluysian atrophy	11	Uncertain significance
12:7045892	NM_001940.4(ATN1):c.1464GCA[14] (p.Gln502del)	NA	not provided\|not specified	11	Benign/Likely benign
12:7045892	NM_001940.4(ATN1):c.1464GCA[12] (p.Gln500_Gln502del)	NA	not provided\|not specified	11	Uncertain significance
12:7045892	NM_001940.4(ATN1):c.1464GCA[11] (p.Gln499_Gln502del)	NA	See cases	11	Uncertain significance
12:7045897	NM_001940.4(ATN1):c.1467G>A (p.Gln489=)	NA	not provided	16	Likely benign
12:7045899	NM_001940.4(ATN1):c.1469_1476del (p.Gln490fs)	rs797045320	not specified	18	Uncertain significance
12:7045899	NM_001940.4(ATN1):c.1469_1476del (p.Gln490fs)	rs797045320	not specified	18	Uncertain significance
12:7045901	NM_001940.4(ATN1):c.1471_1472insCAGCAG (p.Gln491delinsProAlaGlu)	rs797045321	not specified	20	Likely benign
12:7045901	NM_001940.4(ATN1):c.1471_1472insCAGCAG (p.Gln491delinsProAlaGlu)	rs797045321	not specified	20	Likely benign
12:7045902	NM_001940.4(ATN1):c.1472_1476del (p.Gln491fs)	rs797045322	not specified	21	Uncertain significance
12:7045902	NM_001940.4(ATN1):c.1472_1476del (p.Gln491fs)	rs797045322	not specified	21	Uncertain significance
12:7045924	NM_001940.4(ATN1):c.1494G>T (p.Gln498His)	NA	Dentatorubral-pallidoluysian atrophy	43	Uncertain significance
12:7045936	NM_001940.4(ATN1):c.1506G>T (p.Gln502His)	rs146459577	not provided	55	Uncertain significance
12:7045939	NM_001940.4(ATN1):c.1509T>C (p.His503=)	rs146578563	not provided	58	Uncertain significance
12:7046028	NM_001940.4(ATN1):c.1604_1607del (p.Ser535fs)	NA	not provided	147	Uncertain significance
12:7046077	NM_001940.4(ATN1):c.1647G>A (p.Leu549=)	rs11547602	not specified	196	Likely benign
12:7046077	NM_001940.4(ATN1):c.1647G>A (p.Leu549=)	rs11547602	not specified	196	Likely benign
12:7046295	NM_001940.4(ATN1):c.1865C>G (p.Ala622Gly)	NA	See cases	414	Benign
12:7046398	NM_001940.4(ATN1):c.1968A>C (p.Gly656_Tyr657=)	NA	not provided	517	Benign
12:7046496	NM_001940.4(ATN1):c.2066C>T (p.Ser689Leu)	NA	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	615	Uncertain significance
12:7046587	NM_001940.4(ATN1):c.2157G>A (p.Pro719=)	NA	not provided	706	Likely benign
12:7046694	NM_001940.4(ATN1):c.2264_2270delinsTTGTACA (p.Asp755_Pro757delinsValValHis)	NA	not provided	813	Uncertain significance
12:7046700	NM_001940.4(ATN1):c.2270C>A (p.Pro757His)	NA	not provided	819	Uncertain significance
12:7047138	NM_001940.4(ATN1):c.2425C>G (p.Gln809Glu)	NA	X-linked hydrocephalus syndrome	1257	Uncertain significance
12:7047143	NM_001940.4(ATN1):c.2430C>A (p.Arg810=)	rs7969685	not specified\|not provided	1262	Benign
12:7047143	NM_001940.4(ATN1):c.2430C>A (p.Arg810=)	rs7969685	not specified\|not provided	1262	Benign
12:7047737	NM_001940.4(ATN1):c.2611A>G (p.Thr871Ala)	NA	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	1856	Uncertain significance
12:7047911	NM_001940.4(ATN1):c.2785G>A (p.Ala929Thr)	NA	not provided	2030	Likely benign
12:7048062	NM_001940.4(ATN1):c.2936T>G (p.Leu979Arg)	NA	See cases	2181	Uncertain significance
12:7048178	NM_001940.4(ATN1):c.3058_3072del (p.Leu1021_Arg1025del)	NA	not provided	2297	Uncertain significance
12:7048281	NM_001940.4(ATN1):c.3155A>C (p.His1052Pro)	NA	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies\|not provided	2400	Pathogenic/Likely pathogenic
12:7048286	NM_001940.4(ATN1):c.3160C>A (p.His1054Asn)	rs1555144357	Congenital ATN1 related disorder\|Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	2405	Pathogenic
12:7048286	NM_001940.4(ATN1):c.3160C>T (p.His1054Tyr)	rs1555144357	Inborn genetic diseases	2405	Uncertain significance
12:7048286	NM_001940.4(ATN1):c.3165_3176del (p.Ile1057_His1060del)	NA	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	2405	Pathogenic
12:7048292	NM_001940.4(ATN1):c.3166C>T (p.His1056Tyr)	rs1945599462	Inborn genetic diseases	2411	Uncertain significance
12:7048293	NM_001940.4(ATN1):c.3167A>C (p.His1056Pro)	NA	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	2412	Likely pathogenic
12:7048298	NM_001940.4(ATN1):c.3172C>T (p.His1058Tyr)	rs1555144358	Congenital ATN1 related disorder\|Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	2417	Pathogenic
12:7048302	NM_001940.4(ATN1):c.3177_3178insAACCTG (p.Ser1059_His1060insAsnLeu)	rs1064795494	not provided\|Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	2421	Uncertain significance
12:7048302	NM_001940.4(ATN1):c.3177_3178insGACCTG (p.Ser1059_His1060insAspLeu)	rs1064795494	not provided	2421	Uncertain significance
12:7048302	NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3])	NA	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies\|Dentatorubral-pallidoluysian atrophy	2421	Likely pathogenic
12:7048302	NM_001940.4(ATN1):c.3176C>T (p.Ser1059Leu)	NA	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	2421	Uncertain significance
12:7048303	NM_001940.4(ATN1):c.3182TGCACC[1] (p.1061LH[1])	NA	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	2422	Likely pathogenic
12:7048304	NM_001940.4(ATN1):c.3178C>T (p.His1060Tyr)	rs797044566	not provided\|Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	2423	Conflicting interpretations of pathogenicity
12:7048304	NM_001940.4(ATN1):c.3178C>T (p.His1060Tyr)	rs797044566	not provided\|Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	2423	Conflicting interpretations of pathogenicity
12:7048310	NM_001940.4(ATN1):c.3184C>G (p.His1062Asp)	rs1057522490	not provided	2429	Uncertain significance
12:7048311	NM_001940.4(ATN1):c.3185A>G (p.His1062Arg)	rs1565569158	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies\|Congenital ATN1 related disorder	2430	Pathogenic/Likely pathogenic
12:7048314	NM_001940.4(ATN1):c.3188T>G (p.Leu1063Arg)	rs1555144360	Congenital ATN1 related disorder	2433	Pathogenic
12:7052895	NM_001301834.1(C12orf57):c.-16+70G>A	NA	not provided	7014	Likely benign
12:7052901	NM_001301834.1(C12orf57):c.-16+82dup	NA	not provided	7020	Likely benign
12:7052908	NM_001301834.1(C12orf57):c.-16+83G>T	NA	not provided	7027	Likely benign
12:7052974	NM_001301834.1(C12orf57):c.-16+149C>T	NA	not provided	7093	Benign
12:7052976	NM_001301834.1(C12orf57):c.-16+151C>T	NA	not provided	7095	Likely benign
12:7052978	NM_001301834.1(C12orf57):c.-16+153G>A	NA	not provided	7097	Benign
12:7053006	NM_001301834.1(C12orf57):c.-16+181C>T	NA	Aicardi-Goutieres syndrome 9	7125	Pathogenic
12:7053006	NM_001301834.1(C12orf57):c.-16+181C>G	NA	Aicardi-Goutieres syndrome 9	7125	Likely pathogenic
12:7053008	NM_001301834.1(C12orf57):c.-16+183A>G	NA	Aicardi-Goutieres syndrome 9	7127	Likely pathogenic
12:7053012	NM_001301834.1(C12orf57):c.-16+193_-16+200del	NA	Aicardi-Goutieres syndrome 9	7131	Pathogenic
12:7053013	NM_001301834.1(C12orf57):c.-16+188G>A	NA	Aicardi-Goutieres syndrome 9	7132	Pathogenic
12:7053014	NM_001301834.1(C12orf57):c.-16+189C>T	NA	not provided	7133	Likely benign
12:7053019	NM_001301834.1(C12orf57):c.-16+194T>G	NA	Aicardi-Goutieres syndrome 9	7138	Pathogenic
12:7053022	NM_001301834.1(C12orf57):c.-16+197C>T	NA	not provided	7141	Benign
12:7053026	NM_001301834.1(C12orf57):c.-16+201T>C	NA	not provided	7145	Benign
12:7053029	NM_001301834.1(C12orf57):c.-16+204C>T	NA	Aicardi-Goutieres syndrome 9\|not provided	7148	Likely benign
12:7053030	NM_001301834.1(C12orf57):c.-16+205C>T	NA	not provided	7149	Likely benign
12:7053038	NM_001301834.1(C12orf57):c.-16+213C>T	NA	not provided	7157	Likely benign
12:7053044	NM_001301834.1(C12orf57):c.-16+219T>C	NA	not provided	7163	Likely benign
12:7053058	NM_001301834.1(C12orf57):c.-15-212C>T	NA	not provided	7177	Likely benign
12:7053059	NM_001301834.1(C12orf57):c.-15-211C>T	NA	not provided	7178	Likely benign
12:7053085	NM_001301834.1(C12orf57):c.-15-185A>G	NA	not provided	7204	Benign
12:7053091	NM_001301834.1(C12orf57):c.-15-179A>G	NA	not provided	7210	Likely benign
12:7053094	NM_001301834.1(C12orf57):c.-15-176G>A	NA	not provided	7213	Likely benign
12:7053096	NM_001301834.1(C12orf57):c.-15-174T>C	NA	not provided	7215	Benign
12:7053098	NM_001301834.1(C12orf57):c.-15-172G>C	NA	not provided	7217	Likely benign
12:7053121	NM_001301834.1(C12orf57):c.-15-149G>A	NA	not provided	7240	Benign
12:7053149	NM_001301834.1(C12orf57):c.-15-121A>C	NA	not provided	7268	Benign
12:7053194	NM_138425.4(C12orf57):c.-91_-75del	NA	not provided	7313	Likely benign
12:7053215	NM_138425.4(C12orf57):c.-70T>G	NA	not provided	7334	Benign
12:7053257	NM_138425.4(C12orf57):c.-28C>T	NA	not provided	7376	Likely benign
12:7053258	NM_138425.4(C12orf57):c.-27C>T	NA	not provided	7377	Likely benign
12:7053265	NC_000012.11:g.(?_7053265)_(7055105_?)del	NA	Temtamy syndrome	7384	Pathogenic
12:7053280	NM_138425.4(C12orf57):c.-5G>A	rs373573883	not specified	7399	Uncertain significance
12:7053281	NM_138425.4(C12orf57):c.-4C>T	NA	not specified\|not provided	7400	Uncertain significance
12:7053282	NM_138425.4(C12orf57):c.-3C>T	NA	not provided\|not specified	7401	Conflicting interpretations of pathogenicity
12:7053285	NM_138425.4(C12orf57):c.1A>G (p.Met1Val)	rs587776954	Temtamy syndrome\|Abnormal corpus callosum morphology;Global developmental delay;Seizure;Microphthalmia, isolated, with coloboma\|not provided	7404	Pathogenic/Likely pathogenic
12:7053285	NM_138425.4(C12orf57):c.1A>G (p.Met1Val)	rs587776954	Temtamy syndrome\|Abnormal corpus callosum morphology;Global developmental delay;Seizure;Microphthalmia, isolated, with coloboma\|not provided	7404	Pathogenic/Likely pathogenic
12:7053292	NM_138425.4(C12orf57):c.8C>T (p.Ser3Phe)	NA	Temtamy syndrome	7411	Uncertain significance
12:7053293	NM_138425.4(C12orf57):c.9C>T (p.Ser3=)	rs200541396	Temtamy syndrome\|not provided	7412	Likely benign
12:7053294	NM_138425.4(C12orf57):c.10G>A (p.Ala4Thr)	rs367876099	Temtamy syndrome	7413	Uncertain significance
12:7053294	NM_138425.4(C12orf57):c.10G>C (p.Ala4Pro)	rs367876099	Temtamy syndrome	7413	Uncertain significance
12:7053295	NM_138425.4(C12orf57):c.11C>G (p.Ala4Gly)	rs1194384402	Temtamy syndrome	7414	Uncertain significance
12:7053296	NM_138425.4(C12orf57):c.12C>T (p.Ala4=)	rs747313284	Temtamy syndrome	7415	Likely benign
12:7053296	NM_138425.4(C12orf57):c.12C>G (p.Ala4=)	rs747313284	not provided\|Temtamy syndrome	7415	Likely benign
12:7053297	NM_138425.4(C12orf57):c.13T>G (p.Ser5Ala)	rs1945722680	Temtamy syndrome	7416	Uncertain significance
12:7053299	NM_138425.4(C12orf57):c.15G>T (p.Ser5=)	NA	Temtamy syndrome	7418	Likely benign
12:7053299	NM_138425.4(C12orf57):c.15G>C (p.Ser5=)	NA	Temtamy syndrome	7418	Likely benign
12:7053301	NM_138425.4(C12orf57):c.17C>G (p.Thr6Ser)	rs782587036	Temtamy syndrome	7420	Uncertain significance
12:7053302	NM_138425.4(C12orf57):c.18C>G (p.Thr6=)	NA	Temtamy syndrome	7421	Likely benign
12:7053304	NM_138425.4(C12orf57):c.20A>G (p.Gln7Arg)	rs782600196	not provided	7423	Uncertain significance
12:7053304	NM_138425.4(C12orf57):c.20A>C (p.Gln7Pro)	rs782600196	Temtamy syndrome	7423	Uncertain significance
12:7053305	NM_138425.4(C12orf57):c.21A>G (p.Gln7=)	NA	Temtamy syndrome	7424	Uncertain significance
12:7053307	NM_138425.4(C12orf57):c.23C>T (p.Pro8Leu)	rs372253812	Temtamy syndrome	7426	Uncertain significance
12:7053308	NM_138425.4(C12orf57):c.24G>A (p.Pro8=)	rs782660573	Temtamy syndrome	7427	Uncertain significance
12:7053310	NM_138425.4(C12orf57):c.26C>T (p.Ala9Val)	rs782364371	Temtamy syndrome	7429	Uncertain significance
12:7053311	NM_138425.4(C12orf57):c.27G>A (p.Ala9=)	rs781967024	Temtamy syndrome	7430	Likely benign
12:7053312	NM_138425.4(C12orf57):c.28G>C (p.Ala10Pro)	rs782077846	Temtamy syndrome	7431	Uncertain significance
12:7053313	NM_138425.4(C12orf57):c.29C>T (p.Ala10Val)	rs1401197297	Temtamy syndrome	7432	Uncertain significance
12:7053314	NM_138425.4(C12orf57):c.30C>T (p.Ala10=)	rs199643110	not specified\|Temtamy syndrome	7433	Benign/Likely benign
12:7053314	NM_138425.4(C12orf57):c.30C>G (p.Ala10=)	NA	Temtamy syndrome	7433	Likely benign
12:7053316	NM_138425.4(C12orf57):c.32T>G (p.Leu11Trp)	rs1417249758	Temtamy syndrome	7435	Uncertain significance
12:7053317	NM_138425.4(C12orf57):c.33G>C (p.Leu11Phe)	rs782168213	Temtamy syndrome\|not provided	7436	Uncertain significance
12:7053319	NM_138425.4(C12orf57):c.35G>A (p.Ser12Asn)	rs148483779	Temtamy syndrome	7438	Uncertain significance
12:7053319	NM_138425.4(C12orf57):c.35G>T (p.Ser12Ile)	NA	Temtamy syndrome	7438	Uncertain significance
12:7053320	NM_138425.4(C12orf57):c.36C>T (p.Ser12=)	NA	Temtamy syndrome	7439	Likely benign
12:7053321	NM_138425.4(C12orf57):c.37G>A (p.Ala13Thr)	rs201246220	Temtamy syndrome	7440	Uncertain significance
12:7053326	NM_138425.4(C12orf57):c.42G>A (p.Glu14=)	rs782518073	Temtamy syndrome	7445	Likely benign
12:7053327	NM_138425.4(C12orf57):c.43C>T (p.Gln15Ter)	rs1565574197	not provided\|Temtamy syndrome	7446	Pathogenic
12:7053328	NM_138425.4(C12orf57):c.44A>G (p.Gln15Arg)	rs1316615247	Temtamy syndrome	7447	Uncertain significance
12:7053329	NM_138425.4(C12orf57):c.45A>G (p.Gln15=)	NA	Temtamy syndrome	7448	Likely benign
12:7053330	NM_138425.4(C12orf57):c.46G>A (p.Ala16Thr)	rs782651043	Temtamy syndrome	7449	Uncertain significance
12:7053332	NM_138425.4(C12orf57):c.48A>G (p.Ala16=)	NA	Temtamy syndrome	7451	Likely benign
12:7053335	NM_138425.4(C12orf57):c.51G>A (p.Lys17=)	rs782226329	Temtamy syndrome	7454	Uncertain significance
12:7053336	NM_138425.4(C12orf57):c.52G>A (p.Val18Met)	rs782339702	Temtamy syndrome	7455	Uncertain significance
12:7053337	NM_138425.4(C12orf57):c.52+1G>T	rs782640048	Temtamy syndrome	7456	Likely pathogenic
12:7053345	NM_138425.4(C12orf57):c.52+9C>T	NA	Temtamy syndrome	7464	Likely benign
12:7053348	NM_138425.4(C12orf57):c.52+12C>T	NA	Temtamy syndrome	7467	Likely benign
12:7053350	NM_138425.4(C12orf57):c.52+26_52+54del	rs781901992	not specified\|Temtamy syndrome	7469	Benign/Likely benign
12:7053350	NM_138425.4(C12orf57):c.52+26_52+54del	rs781901992	not specified\|Temtamy syndrome	7469	Benign/Likely benign
12:7053350	NM_138425.4(C12orf57):c.52+14T>C	NA	Temtamy syndrome	7469	Likely benign
12:7053351	NM_138425.4(C12orf57):c.52+15A>T	NA	Temtamy syndrome	7470	Likely benign
12:7053352	NM_138425.4(C12orf57):c.52+16G>C	NA	Temtamy syndrome	7471	Likely benign
12:7053354	NM_138425.4(C12orf57):c.52+18C>G	NA	Temtamy syndrome	7473	Likely benign
12:7053354	NM_138425.4(C12orf57):c.52+18C>T	NA	Temtamy syndrome	7473	Likely benign
12:7053362	NM_138425.4(C12orf57):c.52+26A>G	NA	Temtamy syndrome\|not provided	7481	Benign
12:7053621	NM_138425.4(C12orf57):c.53-18G>C	NA	Temtamy syndrome	7740	Likely benign
12:7053624	NM_138425.4(C12orf57):c.53-15G>A	NA	Temtamy syndrome	7743	Likely benign
12:7053636	NM_138425.4(C12orf57):c.53-3C>T	rs191711101	Temtamy syndrome	7755	Likely benign
12:7053637	NM_138425.4(C12orf57):c.53-2A>G	rs1114167293	6 conditions\|Temtamy syndrome	7756	Pathogenic
12:7053637	NM_138425.4(C12orf57):c.53-2A>G	rs1114167293	6 conditions\|Temtamy syndrome	7756	Pathogenic
12:7053638	NM_138425.4(C12orf57):c.53-1G>A	rs374836404	Temtamy syndrome	7757	Likely pathogenic
12:7053638	NM_138425.4(C12orf57):c.53_54del	NA	Temtamy syndrome	7757	Pathogenic
12:7053642	NM_138425.4(C12orf57):c.56T>C (p.Val19Ala)	rs1565574736	Temtamy syndrome	7761	Uncertain significance
12:7053647	NM_138425.4(C12orf57):c.61G>A (p.Ala21Thr)	rs142743155	Temtamy syndrome	7766	Uncertain significance
12:7053648	NM_138425.4(C12orf57):c.62C>T (p.Ala21Val)	rs146024802	Temtamy syndrome\|not provided	7767	Uncertain significance
12:7053648	NM_138425.4(C12orf57):c.62C>G (p.Ala21Gly)	rs146024802	Temtamy syndrome	7767	Uncertain significance
12:7053649	NM_138425.4(C12orf57):c.63G>A (p.Ala21=)	NA	Temtamy syndrome	7768	Uncertain significance
12:7053658	NM_138425.4(C12orf57):c.72C>G (p.Ile24Met)	NA	Temtamy syndrome	7777	Uncertain significance
12:7053662	NM_138425.4(C12orf57):c.76G>A (p.Ala26Thr)	NA	not specified	7781	Uncertain significance
12:7053664	NM_138425.4(C12orf57):c.78G>C (p.Ala26=)	NA	Temtamy syndrome	7783	Likely benign
12:7053667	NM_138425.4(C12orf57):c.81C>T (p.Phe27=)	NA	Temtamy syndrome	7786	Likely benign
12:7053672	NM_138425.4(C12orf57):c.86C>T (p.Ala29Val)	rs139938808	not specified\|Temtamy syndrome\|not provided	7791	Conflicting interpretations of pathogenicity
12:7053672	NM_138425.4(C12orf57):c.86C>T (p.Ala29Val)	rs139938808	not specified\|Temtamy syndrome\|not provided	7791	Conflicting interpretations of pathogenicity
12:7053674	NM_138425.4(C12orf57):c.88C>G (p.Pro30Ala)	rs1349419442	Temtamy syndrome	7793	Uncertain significance
12:7053675	NM_138425.4(C12orf57):c.89C>G (p.Pro30Arg)	NA	Temtamy syndrome	7794	Uncertain significance
12:7053675	NM_138425.4(C12orf57):c.89C>T (p.Pro30Leu)	NA	Temtamy syndrome	7794	Uncertain significance
12:7053677	NM_138425.4(C12orf57):c.91G>C (p.Glu31Gln)	rs797045422	not specified	7796	Uncertain significance
12:7053677	NM_138425.4(C12orf57):c.91G>C (p.Glu31Gln)	rs797045422	not specified	7796	Uncertain significance
12:7053679	NM_138425.4(C12orf57):c.93G>A (p.Glu31=)	NA	Temtamy syndrome	7798	Likely benign
12:7053685	NM_138425.4(C12orf57):c.99A>G (p.Ala33=)	rs373481275	Temtamy syndrome	7804	Uncertain significance
12:7053691	NM_138425.4(C12orf57):c.105C>T (p.Arg35=)	rs782459108	not provided	7810	Likely benign
12:7053693	NM_138425.4(C12orf57):c.107T>C (p.Met36Thr)	NA	Temtamy syndrome	7812	Uncertain significance
12:7053695	NM_138425.4(C12orf57):c.109G>A (p.Asp37Asn)	rs782238229	Temtamy syndrome	7814	Uncertain significance
12:7053697	NM_138425.4(C12orf57):c.111C>T (p.Asp37=)	NA	Temtamy syndrome	7816	Likely benign
12:7053701	NM_138425.4(C12orf57):c.115G>A (p.Ala39Thr)	rs1555146015	Temtamy syndrome	7820	Uncertain significance
12:7053702	NM_138425.4(C12orf57):c.116C>T (p.Ala39Val)	rs782198023	Temtamy syndrome	7821	Uncertain significance
12:7053709	NM_138425.4(C12orf57):c.123T>C (p.Asp41=)	NA	Temtamy syndrome	7828	Likely benign
12:7053709	NM_138425.4(C12orf57):c.123T>A (p.Asp41Glu)	NA	Temtamy syndrome	7828	Uncertain significance
12:7053713	NM_138425.4(C12orf57):c.127G>T (p.Ala43Ser)	rs782311451	Temtamy syndrome\|not provided	7832	Uncertain significance
12:7053720	NM_138425.4(C12orf57):c.136_138del (p.Asp46del)	rs781925545	not specified\|Temtamy syndrome	7839	Uncertain significance
12:7053720	NM_138425.4(C12orf57):c.136_138del (p.Asp46del)	rs781925545	not specified\|Temtamy syndrome	7839	Uncertain significance
12:7053724	NM_138425.4(C12orf57):c.138C>T (p.Asp46=)	rs782095567	Temtamy syndrome	7843	Likely benign
12:7053731	NM_138425.4(C12orf57):c.145A>G (p.Lys49Glu)	rs1555146033	Temtamy syndrome	7850	Uncertain significance
12:7053733	NM_138425.4(C12orf57):c.147G>A (p.Lys49=)	NA	Temtamy syndrome	7852	Likely benign
12:7053735	NM_138425.4(C12orf57):c.155_166del (p.Gln52_Leu55del)	rs782305725	Temtamy syndrome	7854	Uncertain significance
12:7053738	NM_138425.4(C12orf57):c.152T>A (p.Leu51Gln)	rs587776955	Temtamy syndrome	7857	Pathogenic
12:7053738	NM_138425.4(C12orf57):c.152T>A (p.Leu51Gln)	rs587776955	Temtamy syndrome	7857	Pathogenic
12:7053742	NM_138425.4(C12orf57):c.156A>G (p.Gln52=)	NA	Temtamy syndrome	7861	Likely benign
12:7053746	NM_138425.4(C12orf57):c.161_162del (p.Val54fs)	rs782424035	Temtamy syndrome	7865	Pathogenic
12:7053749	NM_138425.4(C12orf57):c.163C>T (p.Leu55=)	NA	Temtamy syndrome	7868	Likely benign
12:7053754	NM_138425.4(C12orf57):c.168C>G (p.Pro56=)	NA	Temtamy syndrome	7873	Likely benign
12:7053755	NM_138425.4(C12orf57):c.169G>A (p.Val57Met)	rs376090183	Temtamy syndrome	7874	Uncertain significance
12:7053759	NM_138425.4(C12orf57):c.174del (p.Thr59fs)	rs1591674794	not provided	7878	Likely pathogenic
12:7053768	NM_138425.4(C12orf57):c.182del (p.Ile61fs)	rs1591674823	Temtamy syndrome	7887	Pathogenic
12:7053770	NM_138425.4(C12orf57):c.184C>T (p.Gln62Ter)	rs587777698	Temtamy syndrome\|not provided	7889	Pathogenic/Likely pathogenic
12:7053770	NM_138425.4(C12orf57):c.184C>T (p.Gln62Ter)	rs587777698	Temtamy syndrome\|not provided	7889	Pathogenic/Likely pathogenic
12:7053778	NM_138425.4(C12orf57):c.192G>C (p.Glu64Asp)	rs1555146059	Temtamy syndrome	7897	Uncertain significance
12:7053779	NM_138425.4(C12orf57):c.193G>C (p.Val65Leu)	rs782660850	Temtamy syndrome	7898	Uncertain significance
12:7053782	NM_138425.4(C12orf57):c.196A>T (p.Ile66Phe)	rs782084528	not provided	7901	Uncertain significance
12:7053786	NM_138425.4(C12orf57):c.200A>G (p.Lys67Arg)	rs781905625	Temtamy syndrome	7905	Uncertain significance
12:7053788	NM_138425.4(C12orf57):c.202G>A (p.Ala68Thr)	rs201642098	Temtamy syndrome	7907	Uncertain significance
12:7053792	NM_138425.4(C12orf57):c.206A>T (p.Tyr69Phe)	rs782485941	Temtamy syndrome	7911	Uncertain significance
12:7053792	NM_138425.4(C12orf57):c.206A>G (p.Tyr69Cys)	rs782485941	Temtamy syndrome	7911	Uncertain significance
12:7053801	NM_138425.4(C12orf57):c.215_216delinsTT (p.Ser72Ile)	rs1945748815	Temtamy syndrome	7920	Uncertain significance
12:7053802	NM_138425.4(C12orf57):c.216C>T (p.Ser72=)	NA	Temtamy syndrome	7921	Likely benign
12:7053804	NM_138425.4(C12orf57):c.218G>T (p.Cys73Phe)	NA	Temtamy syndrome	7923	Uncertain significance
12:7053810	NM_138425.4(C12orf57):c.224G>C (p.Gly75Ala)	rs1945749389	Temtamy syndrome	7929	Uncertain significance
12:7053810	NM_138425.4(C12orf57):c.229+2_229+20del	NA	Temtamy syndrome	7929	Uncertain significance
12:7053814	NM_138425.4(C12orf57):c.228A>C (p.Glu76Asp)	rs782212369	Temtamy syndrome	7933	Uncertain significance
12:7053817	NM_138425.4(C12orf57):c.229+2T>C	rs886041151	Temtamy syndrome	7936	Uncertain significance
12:7053818	NM_138425.4(C12orf57):c.229+25_229+43del	rs199730337	not specified\|Temtamy syndrome\|not provided	7937	Benign/Likely benign
12:7053820	NM_138425.4(C12orf57):c.229+5G>T	rs1945750009	Temtamy syndrome	7939	Uncertain significance
12:7053908	NM_138425.4(C12orf57):c.229+93C>T	NA	not provided	8027	Benign
12:7053960	NM_138425.4(C12orf57):c.229+145C>T	NA	not provided	8079	Benign
12:7054859	NM_138425.4(C12orf57):c.230-75G>A	NA	not provided\|Temtamy syndrome	8978	Benign
12:7054915	NM_138425.4(C12orf57):c.230-19C>T	NA	Temtamy syndrome	9034	Likely benign
12:7054917	NM_138425.4(C12orf57):c.230-17T>C	NA	Temtamy syndrome	9036	Likely benign
12:7054923	NM_138425.4(C12orf57):c.230-9del	NA	Temtamy syndrome	9042	Likely benign
12:7054925	NM_138425.4(C12orf57):c.230-9C>T	NA	Temtamy syndrome	9044	Likely benign
12:7054935	NM_138425.4(C12orf57):c.231T>C (p.Gly77=)	NA	Temtamy syndrome	9054	Likely benign
12:7054944	NM_138425.4(C12orf57):c.240G>A (p.Lys80=)	rs781825705	not specified\|Temtamy syndrome	9063	Conflicting interpretations of pathogenicity
12:7054944	NM_138425.4(C12orf57):c.240G>A (p.Lys80=)	rs781825705	not specified\|Temtamy syndrome	9063	Conflicting interpretations of pathogenicity
12:7054951	NM_138425.4(C12orf57):c.247C>T (p.Arg83Cys)	rs1041306428	Temtamy syndrome	9070	Uncertain significance
12:7054952	NM_138425.4(C12orf57):c.248G>T (p.Arg83Leu)	rs781955379	Temtamy syndrome	9071	Uncertain significance
12:7054957	NM_138425.4(C12orf57):c.253G>A (p.Val85Ile)	NA	Temtamy syndrome	9076	Uncertain significance
12:7054959	NM_138425.4(C12orf57):c.255C>G (p.Val85=)	NA	Temtamy syndrome	9078	Likely benign
12:7054961	NM_138425.4(C12orf57):c.257A>G (p.Lys86Arg)	rs139068225	not specified\|Temtamy syndrome	9080	Uncertain significance
12:7054961	NM_138425.4(C12orf57):c.257A>G (p.Lys86Arg)	rs139068225	not specified\|Temtamy syndrome	9080	Uncertain significance
12:7054967	NM_138425.4(C12orf57):c.263A>G (p.Tyr88Cys)	rs782145941	Temtamy syndrome\|Intellectual disability	9086	Uncertain significance
12:7054972	NM_138425.4(C12orf57):c.268G>A (p.Ala90Thr)	NA	Temtamy syndrome	9091	Uncertain significance
12:7054973	NM_138425.4(C12orf57):c.269C>T (p.Ala90Val)	NA	Temtamy syndrome	9092	Uncertain significance
12:7054976	NM_138425.4(C12orf57):c.272A>G (p.Gln91Arg)	rs1591677332	Temtamy syndrome	9095	Uncertain significance
12:7054988	NM_138425.4(C12orf57):c.284T>A (p.Ile95Asn)	rs1945791819	Temtamy syndrome	9107	Uncertain significance
12:7054995	NM_138425.4(C12orf57):c.291C>G (p.Ser97Arg)	rs782133839	Temtamy syndrome	9114	Uncertain significance
12:7054995	NM_138425.4(C12orf57):c.291C>T (p.Ser97=)	NA	Temtamy syndrome	9114	Likely benign
12:7054998	NM_138425.4(C12orf57):c.294G>C (p.Leu98=)	NA	Temtamy syndrome	9117	Likely benign
12:7055001	NM_138425.4(C12orf57):c.297A>G (p.Ser99=)	rs149881070	Temtamy syndrome	9120	Benign
12:7055007	NM_138425.4(C12orf57):c.303G>A (p.Lys101=)	NA	Temtamy syndrome	9126	Likely benign
12:7055014	NM_138425.4(C12orf57):c.310G>A (p.Ala104Thr)	rs1555146504	Temtamy syndrome	9133	Uncertain significance
12:7055015	NM_138425.4(C12orf57):c.311C>T (p.Ala104Val)	rs782513111	Temtamy syndrome	9134	Uncertain significance
12:7055016	NM_138425.4(C12orf57):c.312G>A (p.Ala104=)	rs140277271	Temtamy syndrome	9135	Likely benign
12:7055021	NM_138425.4(C12orf57):c.317T>A (p.Phe106Tyr)	NA	Temtamy syndrome	9140	Uncertain significance
12:7055022	NM_138425.4(C12orf57):c.318T>G (p.Phe106Leu)	NA	Temtamy syndrome	9141	Uncertain significance
12:7055023	NM_138425.4(C12orf57):c.319C>T (p.Leu107=)	NA	Temtamy syndrome	9142	Likely benign
12:7055026	NM_138425.4(C12orf57):c.322C>T (p.Pro108Ser)	rs782496684	Temtamy syndrome	9145	Uncertain significance
12:7055027	NM_138425.4(C12orf57):c.323C>T (p.Pro108Leu)	rs782624197	Temtamy syndrome	9146	Uncertain significance
12:7055032	NM_138425.4(C12orf57):c.328A>G (p.Met110Val)	rs144915095	Temtamy syndrome	9151	Uncertain significance
12:7055036	NM_138425.4(C12orf57):c.332C>A (p.Thr111Asn)	NA	Temtamy syndrome	9155	Uncertain significance
12:7055037	NM_138425.4(C12orf57):c.333C>T (p.Thr111=)	rs1456146923	Temtamy syndrome	9156	Likely benign
12:7055038	NM_138425.4(C12orf57):c.334C>T (p.Leu112=)	rs1200757086	Temtamy syndrome	9157	Likely benign
12:7055044	NM_138425.4(C12orf57):c.340C>T (p.Pro114Ser)	rs371237102	Temtamy syndrome	9163	Uncertain significance
12:7055045	NM_138425.4(C12orf57):c.341C>A (p.Pro114His)	NA	Temtamy syndrome	9164	Uncertain significance
12:7055045	NM_138425.4(C12orf57):c.341C>T (p.Pro114Leu)	NA	Temtamy syndrome	9164	Uncertain significance
12:7055048	NM_138425.4(C12orf57):c.344A>G (p.His115Arg)	rs782437137	Temtamy syndrome	9167	Uncertain significance
12:7055052	NM_138425.4(C12orf57):c.348G>A (p.Gly116=)	NA	Temtamy syndrome	9171	Likely benign
12:7055060	NM_138425.4(C12orf57):c.356C>T (p.Ala119Val)	rs145396836	Temtamy syndrome	9179	Uncertain significance
12:7055067	NM_138425.4(C12orf57):c.363C>T (p.Gly121=)	rs782694267	Temtamy syndrome	9186	Likely benign
12:7055071	NM_138425.4(C12orf57):c.367G>A (p.Val123Met)	NA	Temtamy syndrome	9190	Uncertain significance
12:7055076	NM_138425.4(C12orf57):c.372C>T (p.Ala124=)	NA	Temtamy syndrome	9195	Likely benign
12:7055079	NM_138425.4(C12orf57):c.375C>T (p.Ala125=)	NA	Temtamy syndrome	9198	Likely benign
12:7055227	Single allele	NA	not provided	9346	Likely benign
12:7055380	Single allele	NA	not provided	9499	Benign
12:7055795	GRCh38/hg38 12p13.31(chr12:7055795-7428473)x3	NA	See cases	9914	Uncertain significance
12:7060691	NM_002831.6(PTPN6):c.8+8C>A	rs1591683478	not provided	14810	Likely benign
12:7060765	NM_002831.6(PTPN6):c.9-7C>T	rs377223489	not provided	14884	Uncertain significance
12:7060766	NM_002831.6(PTPN6):c.9-6G>A	rs200900053	not provided	14885	Conflicting interpretations of pathogenicity
12:7060889	NM_002831.6(PTPN6):c.126C>T (p.Ser42=)	rs114945777	not provided	15008	Benign
12:7065302	NM_002831.5(PTPN6):c.845_854delTTGACCACAG	NA	Neurodevelopmental abnormality	19421	Uncertain significance
12:7065635	NM_002831.6(PTPN6):c.978= (p.Gly326=)	NA	not provided	19754	Benign
12:7065739	NM_002831.6(PTPN6):c.1074+15dup	rs201680985	not provided	19858	Benign
12:7066825	NM_002831.6(PTPN6):c.1083C>T (p.Cys361=)	rs190247406	not provided	20944	Benign
12:7066939	NM_002831.6(PTPN6):c.1197G>A (p.Pro399=)	rs116298095	not provided	21058	Benign
12:7067074	NM_002831.6(PTPN6):c.1207-8C>T	rs782369583	not provided	21193	Benign
12:7067704	NM_001734.5(C1S):c.1132_1135del (p.Phe378fs)	NA	Complement component C1s deficiency	21823	Pathogenic
12:7069126	NM_002831.6(PTPN6):c.1398C>T (p.Ile466=)	rs113854853	not provided	23245	Benign
12:7069342	NM_002831.6(PTPN6):c.1521C>T (p.Phe507=)	rs114388315	not provided	23461	Benign
12:7069497	NM_002831.6(PTPN6):c.1582-10C>G	rs182198998	not provided	23616	Benign
12:7069859	NM_002831.6(PTPN6):c.1674-110G>A	rs111262295	not provided	23978	Benign
12:7069980	GRCh37/hg19 12p13.31(chr12:7069980-7094188)x3	NA	See cases	24099	Uncertain significance
12:7070184	NM_001734.5(C1S):c.1600C>T (p.Arg534Trp)	rs121909582	Complement component C1s deficiency\|not provided	24303	Uncertain significance
12:7074869	NM_001144831.2(PHB2):c.879C>T (p.Ser293=)	rs376132821	not provided	28988	Benign
12:7074877	NM_001144831.2(PHB2):c.873-3_873-2del	rs111523336	not provided	28996	Benign
12:7075631	NM_001144831.2(PHB2):c.822A>G (p.Thr274=)	rs34735201	not provided	29750	Benign
12:7080101	NM_006331.8(EMG1):c.15T>C (p.Ser5=)	rs149578211	not provided	34220	Benign
12:7080124	NM_006331.8(EMG1):c.38G>T (p.Arg13Leu)	rs36061201	not provided	34243	Benign/Likely benign
12:7080187	NM_006331.8(EMG1):c.101C>G (p.Ala34Gly)	rs11064480	not specified	34306	Benign
12:7080187	NM_006331.8(EMG1):c.101C>G (p.Ala34Gly)	rs11064480	not specified	34306	Benign
12:7080212	NM_006331.8(EMG1):c.126dup (p.Leu43fs)	rs60117710	not provided\|Bowen-Conradi syndrome	34331	Benign
12:7080212	NM_006331.8(EMG1):c.126= (p.Arg42=)	NA	not provided	34331	Likely benign
12:7083521	NM_006331.8(EMG1):c.189A>C (p.Leu63=)	NA	not provided	37640	Benign
12:7083581	NM_006331.8(EMG1):c.249G>A (p.Ala83=)	rs782076226	not provided	37700	Likely benign
12:7083589	NM_006331.8(EMG1):c.257A>G (p.Asp86Gly)	rs74435397	Bowen-Conradi syndrome	37708	Pathogenic
12:7083589	NM_006331.8(EMG1):c.257A>G (p.Asp86Gly)	rs74435397	Bowen-Conradi syndrome	37708	Pathogenic
12:7083590	NM_006331.8(EMG1):c.258T>C (p.Asp86=)	rs782126371	not provided	37709	Likely benign
12:7084245	NM_006331.8(EMG1):c.413-7C>T	rs374592464	not provided	38364	Likely benign
12:7084432	NM_006331.8(EMG1):c.513T>C (p.Cys171=)	rs139761201	not provided	38551	Benign
12:7084495	NM_006331.8(EMG1):c.576C>T (p.Ser192=)	rs34784123	not provided	38614	Benign
12:7084938	NM_006331.8(EMG1):c.702C>G (p.Thr234=)	rs782208139	not provided	39057	Likely benign
12:7091021	NM_005768.6(LPCAT3):c.411C>T (p.Tyr137=)	rs60718946	not provided	45140	Benign
12:7091071	NM_005768.6(LPCAT3):c.367-6T>C	rs200178788	not provided	45190	Benign

Position	Population	BlockLength (kb)	Distance	Location with respect to STR	No. of SNPs	SNPs in the Haploblock
12:6997248-7002055	EAS	4.808	-48633	downstream	17	rs71450173, ss1388025932, ss1388025938, ss1388025951, ss1388025957, ss1388025963, ss1388025973, ss1388025983, ss1388025984, ss1388025998, ss1388026010, ss1388026015, ss1388026016, ss1388026033, ss1388026034, ss1388026038, ss138802604,
12:6999264-7001838	AFR	2.575	-46617	downstream	10	ss1388025957, ss1388025963, ss1388025968, ss1388025983, ss1388026010, ss1388026015, ss1388026016, ss1388026033, ss1388026034, ss138802603,
12:7001020-7001838	AMR	0.819	-44861	downstream	6	ss1388026010, ss1388026015, ss1388026016, ss1388026033, ss1388026034, ss138802603,
12:7002387-7002388	AFR	0.002	-43494	downstream	2	ss1388026050, ss138802605,
12:7002387-7002388	all_pop	0.002	-43494	downstream	2	ss1388026050, ss138802605,
12:7002387-7002388	AMR	0.002	-43494	downstream	2	ss1388026050, ss138802605,
12:7002387-7002388	EAS	0.002	-43494	downstream	2	ss1388026050, ss138802605,
12:7002387-7002388	EUR	0.002	-43494	downstream	2	ss1388026050, ss138802605,
12:7002387-7002388	SAS	0.002	-43494	downstream	2	ss1388026050, ss138802605,
12:7002478-7002479	AFR	0.002	-43403	downstream	2	ss1388026052, ss138802605,
12:7002478-7002479	all_pop	0.002	-43403	downstream	2	ss1388026052, ss138802605,
12:7002478-7002479	AMR	0.002	-43403	downstream	2	ss1388026052, ss138802605,
12:7002478-7002479	EAS	0.002	-43403	downstream	2	ss1388026052, ss138802605,
12:7002478-7002479	EUR	0.002	-43403	downstream	2	ss1388026052, ss138802605,
12:7002478-7002479	SAS	0.002	-43403	downstream	2	ss1388026052, ss138802605,
12:7002692-7016340	AMR	13.649	-43189	downstream	64	ss1388026063, ss1388026078, ss1388026108, ss1388026119, ss1388026131, ss1388026134, ss1388026136, ss1388026138, ss1388026139, ss1388026140, ss1388026141, ss1388026142, ss1388026143, ss1388026144, ss1388026145, ss1388026146, ss1388026147, ss1388026148, ss1388026149, ss1388026155, ss1388026156, ss1388026169, ss1388026173, ss1388026181, ss1388026182, ss1388026192, ss1388026199, ss1388026205, ss1388026214, ss1388026217, ss1388026222, ss1388026232, ss1388026249, ss1388026250, ss1388026261, ss1388026270, ss1388026272, ss1388026279, ss1388026284, ss1388026287, ss1388026290, ss1388026291, ss1388026296, ss1388026316, ss1388026329, ss1388026335, ss1388026340, ss1388026341, ss1388026349, ss1388026357, ss1388026363, ss1388026369, ss1388026372, ss1388026373, ss1388026377, ss1388026381, ss1388026386, ss1388026427, ss1388026429, ss1388026449, ss1388026456, ss1388026488, ss1388026492, ss138802649,
12:7003121-7005224	EAS	2.104	-42760	downstream	17	ss1388026076, ss1388026078, ss1388026119, ss1388026131, ss1388026134, ss1388026136, ss1388026138, ss1388026139, ss1388026140, ss1388026141, ss1388026142, ss1388026143, ss1388026144, ss1388026145, ss1388026146, ss1388026147, ss138802614,
12:7003215-7004336	AFR	1.122	-42666	downstream	2	ss1388026078, ss138802610,
12:7003215-7005224	all_pop	2.01	-42666	downstream	16	ss1388026078, ss1388026119, ss1388026131, ss1388026134, ss1388026136, ss1388026138, ss1388026139, ss1388026140, ss1388026141, ss1388026142, ss1388026143, ss1388026144, ss1388026145, ss1388026146, ss1388026147, ss138802614,
12:7003215-7023866	EUR	20.652	-42666	downstream	85	ss1388026078, ss1388026119, ss1388026131, ss1388026134, ss1388026136, ss1388026138, ss1388026139, ss1388026140, ss1388026141, ss1388026142, ss1388026143, ss1388026144, ss1388026145, ss1388026146, ss1388026147, ss1388026148, ss1388026149, ss1388026155, ss1388026156, ss1388026169, ss1388026173, ss1388026181, ss1388026182, ss1388026192, ss1388026199, ss1388026205, ss1388026214, ss1388026217, ss1388026222, ss1388026232, ss1388026250, ss1388026261, ss1388026270, ss1388026272, ss1388026279, ss1388026284, ss1388026287, ss1388026291, ss1388026296, ss1388026316, ss1388026329, ss1388026335, ss1388026340, ss1388026341, ss1388026349, ss1388026357, ss1388026369, ss1388026373, ss1388026377, ss1388026381, ss1388026386, ss1388026427, ss1388026429, ss1388026449, ss1388026492, ss1388026501, ss1388026523, ss1388026524, ss1388026546, ss1388026548, ss1388026551, ss1388026554, ss1388026557, ss1388026560, ss1388026564, ss1388026567, ss1388026568, ss1388026574, ss1388026576, ss1388026577, ss1388026580, ss1388026582, ss1388026584, ss1388026592, ss1388026638, ss1388026650, ss1388026661, ss1388026678, ss1388026681, ss1388026696, ss1388026698, ss1388026706, ss1388026712, ss1388026727, ss138802673,
12:7003215-7022359	SAS	19.145	-42666	downstream	79	ss1388026078, ss1388026119, ss1388026131, ss1388026134, ss1388026136, ss1388026138, ss1388026139, ss1388026140, ss1388026141, ss1388026142, ss1388026143, ss1388026144, ss1388026145, ss1388026146, ss1388026147, ss1388026148, ss1388026149, ss1388026155, ss1388026156, ss1388026169, ss1388026173, ss1388026181, ss1388026182, ss1388026192, ss1388026199, ss1388026205, ss1388026214, ss1388026217, ss1388026222, ss1388026232, ss1388026250, ss1388026261, ss1388026270, ss1388026272, ss1388026279, ss1388026284, ss1388026287, ss1388026291, ss1388026296, ss1388026316, ss1388026329, ss1388026335, ss1388026340, ss1388026341, ss1388026349, ss1388026357, ss1388026369, ss1388026373, ss1388026377, ss1388026381, ss1388026386, ss1388026427, ss1388026429, ss1388026449, ss1388026492, ss1388026501, ss1388026523, ss1388026524, ss1388026546, ss1388026548, ss1388026551, ss1388026554, ss1388026557, ss1388026560, ss1388026564, ss1388026567, ss1388026568, ss1388026574, ss1388026576, ss1388026577, ss1388026580, ss1388026582, ss1388026584, ss1388026592, ss1388026638, ss1388026650, ss1388026661, ss1388026678, ss138802668,
12:7004671-7005224	AFR	0.554	-41210	downstream	16	ss1388026117, ss1388026119, ss1388026131, ss1388026134, ss1388026136, ss1388026138, ss1388026139, ss1388026140, ss1388026141, ss1388026142, ss1388026143, ss1388026144, ss1388026145, ss1388026146, ss1388026147, ss138802614,
12:7005225-7008718	AFR	3.494	-40656	downstream	23	ss1388026149, ss1388026154, ss1388026155, ss1388026156, ss1388026167, ss1388026169, ss1388026173, ss1388026178, ss1388026182, ss1388026187, ss1388026192, ss1388026199, ss1388026205, ss1388026214, ss1388026217, ss1388026218, ss1388026222, ss1388026232, ss1388026237, ss1388026243, ss1388026261, ss1388026270, ss138802627,
12:7005225-7014607	all_pop	9.383	-40656	downstream	40	ss1388026149, ss1388026155, ss1388026156, ss1388026169, ss1388026173, ss1388026181, ss1388026182, ss1388026192, ss1388026199, ss1388026205, ss1388026214, ss1388026217, ss1388026218, ss1388026222, ss1388026232, ss1388026250, ss1388026261, ss1388026270, ss1388026272, ss1388026279, ss1388026284, ss1388026287, ss1388026291, ss1388026296, ss1388026316, ss1388026329, ss1388026335, ss1388026340, ss1388026341, ss1388026349, ss1388026357, ss1388026367, ss1388026369, ss1388026373, ss1388026377, ss1388026381, ss1388026386, ss1388026427, ss1388026429, ss138802644,
12:7005323-7017429	EAS	12.107	-40558	downstream	46	ss1388026155, ss1388026156, ss1388026169, ss1388026173, ss1388026181, ss1388026182, ss1388026192, ss1388026197, ss1388026199, ss1388026205, ss1388026214, ss1388026217, ss1388026218, ss1388026222, ss1388026232, ss1388026261, ss1388026270, ss1388026272, ss1388026279, ss1388026284, ss1388026287, ss1388026291, ss1388026296, ss1388026316, ss1388026329, ss1388026335, ss1388026340, ss1388026341, ss1388026349, ss1388026357, ss1388026367, ss1388026369, ss1388026373, ss1388026377, ss1388026381, ss1388026386, ss1388026427, ss1388026429, ss1388026449, ss1388026467, ss1388026488, ss1388026492, ss1388026501, ss1388026523, ss1388026524, ss138802653,
12:7009155-7010562	AFR	1.408	-36726	downstream	8	ss1388026283, ss1388026284, ss1388026287, ss1388026291, ss1388026296, ss1388026316, ss1388026329, ss138802633,
12:7010678-7010679	AFR	0.002	-35203	downstream	2	ss1388026340, ss138802634,
12:7010980-7011947	AFR	0.968	-34901	downstream	9	ss1388026349, ss1388026350, ss1388026354, ss1388026357, ss1388026358, ss1388026367, ss1388026369, ss1388026373, ss138802637,
12:7012055-7017037	AFR	4.983	-33826	downstream	14	ss1388026381, ss1388026386, ss1388026394, ss1388026427, ss1388026429, ss1388026441, ss1388026443, ss1388026449, ss1388026472, ss1388026488, ss1388026492, ss1388026501, ss1388026504, ss138802652,
12:7015707-7018044	all_pop	2.338	-30174	downstream	11	ss1388026488, ss1388026492, ss1388026501, ss1388026523, ss1388026524, ss1388026537, ss1388026546, ss1388026548, ss1388026551, ss1388026554, ss138802655,
12:7016449-7018248	AMR	1.8	-29432	downstream	10	ss1388026501, ss1388026523, ss1388026524, ss1388026546, ss1388026548, ss1388026550, ss1388026551, ss1388026554, ss1388026557, ss138802656,
12:7017043-7018044	AFR	1.002	-28838	downstream	8	ss1388026524, ss1388026537, ss1388026541, ss1388026546, ss1388026548, ss1388026551, ss1388026554, ss138802655,
12:7017826-7018044	EAS	0.219	-28055	downstream	4	ss1388026548, ss1388026551, ss1388026554, ss138802655,
12:7018493-7022359	AMR	3.867	-27388	downstream	16	ss1388026567, ss1388026568, ss1388026574, ss1388026575, ss1388026576, ss1388026577, ss1388026580, ss1388026582, ss1388026584, ss1388026592, ss1388026629, ss1388026638, ss1388026650, ss1388026661, ss1388026678, ss138802668,
12:7018493-7022359	EAS	3.867	-27388	downstream	17	ss1388026567, ss1388026568, ss1388026574, ss1388026576, ss1388026577, ss1388026578, ss1388026580, ss1388026582, ss1388026584, ss1388026592, ss1388026631, ss1388026638, ss1388026650, ss1388026661, ss1388026673, ss1388026678, ss138802668,
12:7018557-7018666	AFR	0.11	-27324	downstream	6	ss1388026568, ss1388026574, ss1388026576, ss1388026577, ss1388026580, ss138802658,
12:7018557-7018666	all_pop	0.11	-27324	downstream	6	ss1388026568, ss1388026574, ss1388026576, ss1388026577, ss1388026580, ss138802658,
12:7018775-7022359	AFR	3.585	-27106	downstream	9	ss1388026584, ss1388026592, ss1388026604, ss1388026631, ss1388026638, ss1388026650, ss1388026661, ss1388026678, ss138802668,
12:7018775-7022359	all_pop	3.585	-27106	downstream	8	ss1388026584, ss1388026592, ss1388026631, ss1388026638, ss1388026650, ss1388026661, ss1388026678, ss138802668,
12:7022823-7025469	AFR	2.647	-23058	downstream	7	ss1388026698, ss1388026706, ss1388026712, ss1388026727, ss1388026730, ss1388026748, ss138802676,
12:7022823-7023866	all_pop	1.044	-23058	downstream	5	ss1388026698, ss1388026706, ss1388026712, ss1388026727, ss138802673,
12:7022823-7023866	EAS	1.044	-23058	downstream	5	ss1388026698, ss1388026706, ss1388026712, ss1388026727, ss138802673,
12:7022823-7023866	SAS	1.044	-23058	downstream	6	ss1388026698, ss1388026706, ss1388026712, ss1388026727, ss1388026728, ss138802673,
12:7022885-7024871	AMR	1.987	-22996	downstream	6	ss1388026700, ss1388026706, ss1388026712, ss1388026727, ss1388026730, ss138802675,
12:7024187-7026932	EAS	2.746	-21694	downstream	6	ss1388026739, ss1388026773, ss1388026786, ss1388026792, ss1388026820, ss138802682,
12:7025763-7026932	AFR	1.17	-20118	downstream	3	ss1388026773, ss1388026792, ss138802682,
12:7025763-7026932	all_pop	1.17	-20118	downstream	3	ss1388026773, ss1388026792, ss138802682,
12:7025763-7026307	AMR	0.545	-20118	downstream	2	ss1388026773, ss138802679,
12:7027517-7027659	EAS	0.143	-18364	downstream	3	ss1388026834, ss1388026840, ss138802684,
12:7027637-7027676	AFR	0.04	-18244	downstream	2	ss1388026840, ss138802684,
12:7027676-7028145	EUR	0.47	-18205	downstream	2	ss1388026843, ss138802685,
12:7028394-7029314	AFR	0.921	-17487	downstream	5	ss1388026863, ss1388026868, ss1388026878, ss1388026881, ss138802688,
12:7028394-7029314	all_pop	0.921	-17487	downstream	5	ss1388026863, ss1388026868, ss1388026878, ss1388026881, ss138802688,
12:7028394-7029314	EAS	0.921	-17487	downstream	5	ss1388026863, ss1388026868, ss1388026878, ss1388026881, ss138802688,
12:7029118-7029535	AMR	0.418	-16763	downstream	2	ss1388026881, ss138802688,
12:7029118-7034280	EUR	5.163	-16763	downstream	8	ss1388026881, ss1388026889, ss1388026899, ss1388026900, ss1388026911, ss1388026962, ss1388027009, ss138802702,
12:7029118-7033823	SAS	4.706	-16763	downstream	6	ss1388026881, ss1388026889, ss1388026899, ss1388026900, ss1388026911, ss138802700,
12:7029868-7034304	AFR	4.437	-16013	downstream	25	ss1388026899, ss1388026900, ss1388026911, ss1388026912, ss1388026913, ss1388026914, ss1388026918, ss1388026926, ss1388026939, ss1388026966, ss1388026977, ss1388026992, ss1388026995, ss1388026997, ss1388026998, ss1388027001, ss1388027005, ss1388027009, ss1388027011, ss1388027013, ss1388027017, ss1388027021, ss1388027022, ss1388027023, ss138802702,
12:7029868-7034121	all_pop	4.254	-16013	downstream	21	ss1388026899, ss1388026900, ss1388026911, ss1388026912, ss1388026913, ss1388026914, ss1388026918, ss1388026939, ss1388026962, ss1388026966, ss1388026977, ss1388026992, ss1388026995, ss1388026997, ss1388026998, ss1388027001, ss1388027005, ss1388027009, ss1388027011, ss1388027013, ss138802701,
12:7029868-7033823	AMR	3.956	-16013	downstream	5	ss1388026899, ss1388026900, ss1388026911, ss1388026962, ss138802700,
12:7029868-7033823	EAS	3.956	-16013	downstream	16	ss1388026899, ss1388026900, ss1388026911, ss1388026912, ss1388026913, ss1388026914, ss1388026918, ss1388026939, ss1388026963, ss1388026966, ss1388026977, ss1388026992, ss1388026995, ss1388026997, ss1388026998, ss138802700,
12:7034268-7034275	all_pop	0.008	-11613	downstream	2	ss1388027021, ss138802702,
12:7034308-7034312	all_pop	0.005	-11573	downstream	2	ss1388027026, ss138802702,
12:7034308-7034312	AMR	0.005	-11573	downstream	2	ss1388027026, ss138802702,
12:7034308-7034312	EAS	0.005	-11573	downstream	2	ss1388027026, ss138802702,
12:7034353-7034950	AFR	0.598	-11528	downstream	2	ss1388027033, ss138802704,
12:7034950-7035262	SAS	0.313	-10931	downstream	2	ss1388027049, ss138802705,
12:7035262-7035644	all_pop	0.383	-10619	downstream	2	ss1388027059, ss138802706,
12:7035262-7038767	EUR	3.506	-10619	downstream	3	ss1388027059, ss1388027067, ss138802712,
12:7035644-7038901	AFR	3.258	-10237	downstream	3	ss1388027067, ss1388027108, ss138802712,
12:7036028-7039754	SAS	3.727	-9853	downstream	3	ss1388027073, ss1388027122, ss138802714,
12:7038767-7039754	all_pop	0.988	-7114	downstream	2	ss1388027122, ss138802714,
12:7038767-7039754	EAS	0.988	-7114	downstream	2	ss1388027122, ss138802714,
12:7041766-7042372	AFR	0.607	-4115	downstream	2	ss1388027194, ss138802720,
12:7041766-7043486	all_pop	1.721	-4115	downstream	4	ss1388027194, ss1388027208, ss1388027217, ss138802723,
12:7041766-7053817	AMR	12.052	-4115	downstream	15	ss1388027194, ss1388027208, ss1388027217, ss1388027250, ss1388027281, ss1388027307, ss1388027332, ss1388027345, ss1388027414, ss1388027470, ss1388027484, ss1388027591, ss1388027630, ss1388027680, ss138802769,
12:7042372-7055860	EAS	13.489	-3509	downstream	13	ss1388027208, ss1388027217, ss1388027237, ss1388027250, ss1388027332, ss1388027414, ss1388027484, ss1388027591, ss1388027630, ss1388027680, ss1388027700, ss1388027753, ss138802777,
12:7042372-7055380	EUR	13.009	-3509	downstream	14	ss1388027208, ss1388027217, ss1388027237, ss1388027250, ss1388027332, ss1388027345, ss1388027414, ss1388027484, ss1388027538, ss1388027591, ss1388027630, ss1388027680, ss1388027700, ss138802775,
12:7042372-7055380	SAS	13.009	-3509	downstream	15	ss1388027208, ss1388027217, ss1388027237, ss1388027250, ss1388027332, ss1388027345, ss1388027414, ss1388027438, ss1388027450, ss1388027484, ss1388027591, ss1388027630, ss1388027680, ss1388027700, ss138802775,
12:7042631-7053085	AFR	10.455	-3250	downstream	16	ss1388027217, ss1388027250, ss1388027307, ss1388027345, ss1388027359, ss1388027362, ss1388027414, ss1388027431, ss1388027433, ss1388027449, ss1388027464, ss1388027470, ss1388027505, ss1388027524, ss1388027557, ss138802759,
12:7046745-7047583	all_pop	0.839	864	upstream	3	ss1388027332, ss1388027345, ss138802735,
12:7049999-7053908	all_pop	3.91	4118	upstream	8	ss1388027414, ss1388027470, ss1388027484, ss1388027591, ss1388027630, ss1388027680, ss1388027698, ss138802770,
12:7053908-7055380	AMR	1.473	8027	upstream	2	ss1388027700, ss138802775,
12:7053960-7055380	AFR	1.421	8079	upstream	2	ss1388027703, ss138802775,
12:7056723-7057437	AFR	0.715	10842	upstream	3	ss1388027808, ss1388027821, ss138802783,
12:7057437-7059178	EUR	1.742	11556	upstream	4	ss1388027833, ss1388027889, ss1388027890, ss138802789,
12:7057900-7058626	AFR	0.727	12019	upstream	6	ss1388027850, ss1388027854, ss1388027857, ss1388027864, ss1388027871, ss138802787,
12:7057900-7057970	all_pop	0.071	12019	upstream	2	ss1388027850, ss138802785,
12:7057900-7057970	AMR	0.071	12019	upstream	2	ss1388027850, ss138802785,
12:7059132-7059178	AFR	0.047	13251	upstream	3	ss1388027889, ss1388027890, ss138802789,
12:7059132-7059133	all_pop	0.002	13251	upstream	2	ss1388027889, ss138802789,
12:7059132-7059178	AMR	0.047	13251	upstream	3	ss1388027889, ss1388027890, ss138802789,
12:7059132-7059133	EAS	0.002	13251	upstream	2	ss1388027889, ss138802789,
12:7059132-7059194	SAS	0.063	13251	upstream	7	ss1388027889, ss1388027890, ss1388027891, ss1388027892, ss1388027893, ss1388027894, ss138802789,
12:7059185-7059194	AFR	0.01	13304	upstream	4	ss1388027892, ss1388027893, ss1388027894, ss138802789,
12:7059185-7059194	all_pop	0.01	13304	upstream	4	ss1388027892, ss1388027893, ss1388027894, ss138802789,
12:7059185-7059194	AMR	0.01	13304	upstream	4	ss1388027892, ss1388027893, ss1388027894, ss138802789,
12:7059185-7059194	EAS	0.01	13304	upstream	4	ss1388027892, ss1388027893, ss1388027894, ss138802789,
12:7059185-7059194	EUR	0.01	13304	upstream	4	ss1388027892, ss1388027893, ss1388027894, ss138802789,
12:7059619-7059640	AFR	0.022	13738	upstream	2	ss1388027909, ss138802791,
12:7059640-7062391	EUR	2.752	13759	upstream	3	ss1388027912, ss1388027976, ss138802800,
12:7060889-7061445	AFR	0.557	15008	upstream	2	ss1388027957, ss138802797,
12:7061716-7062363	AFR	0.648	15835	upstream	3	ss1388027980, ss1388027982, ss138802800,
12:7062391-7065739	AFR	3.349	16510	upstream	9	ss1388028009, ss1388028043, ss1388028048, ss1388028055, ss1388028101, ss1388028107, ss1388028115, ss1388028119, ss138802812,
12:7062391-7065635	all_pop	3.245	16510	upstream	6	ss1388028009, ss1388028058, ss1388028101, ss1388028107, ss1388028115, ss138802811,
12:7062391-7067555	AMR	5.165	16510	upstream	6	ss1388028009, ss1388028058, ss1388028101, ss1388028107, ss1388028115, ss138802818,
12:7063755-7068608	EUR	4.854	17874	upstream	7	ss1388028058, ss1388028101, ss1388028107, ss1388028115, ss1388028119, ss1388028186, ss138802823,
12:7067336-7067555	AFR	0.22	21455	upstream	2	ss1388028176, ss138802818,
12:7067555-7068608	all_pop	1.054	21674	upstream	2	ss1388028186, ss138802823,
12:7067555-7068608	SAS	1.054	21674	upstream	2	ss1388028186, ss138802823,
12:7069620-7069654	all_pop	0.035	23739	upstream	2	ss1388028273, ss138802827,
12:7069620-7071713	AMR	2.094	23739	upstream	4	ss1388028273, ss1388028274, ss1388028331, ss138802835,
12:7069620-7069654	EAS	0.035	23739	upstream	2	ss1388028273, ss138802827,
12:7069620-7073184	EUR	3.565	23739	upstream	5	ss1388028273, ss1388028274, ss1388028331, ss1388028351, ss138802839,
12:7069620-7071713	SAS	2.094	23739	upstream	4	ss1388028273, ss1388028274, ss1388028331, ss138802835,
12:7069654-7070982	AFR	1.329	23773	upstream	2	ss1388028274, ss138802831,
12:7071130-7073439	AFR	2.31	25249	upstream	9	ss1388028331, ss1388028344, ss1388028345, ss1388028351, ss1388028364, ss1388028370, ss1388028378, ss1388028390, ss138802840,
12:7071130-7071713	all_pop	0.584	25249	upstream	2	ss1388028331, ss138802835,
12:7073805-7074141	AFR	0.337	27924	upstream	2	ss1388028418, ss138802844,
12:7073805-7075882	SAS	2.078	27924	upstream	2	ss1388028418, ss138802850,
12:7074385-7077393	AFR	3.009	28504	upstream	5	ss1388028455, ss1388028476, ss1388028509, ss1388028511, ss138802853,
12:7075213-7075882	EUR	0.67	29332	upstream	2	ss1388028485, ss138802850,
12:7075882-7078150	all_pop	2.269	30001	upstream	3	ss1388028509, ss1388028517, ss138802856,
12:7080582-7081228	AFR	0.647	34701	upstream	2	ss1388028650, ss138802866,
12:7081378-7081439	AMR	0.062	35497	upstream	2	ss1388028668, ss138802867,
12:7081378-7081439	EUR	0.062	35497	upstream	2	ss1388028668, ss138802867,
12:7082353-7091918	AFR	9.566	36472	upstream	20	ss1388028700, ss1388028711, ss1388028721, ss1388028722, ss1388028723, ss1388028754, ss1388028757, ss1388028770, ss1388028773, ss1388028815, ss1388028816, ss1388028817, ss1388028852, ss1388028854, ss1388028904, ss1388028919, ss1388028922, ss1388028927, ss1388028939, ss138802895,
12:7082353-7082836	all_pop	0.484	36472	upstream	2	ss1388028700, ss138802871,
12:7082700-7091918	AMR	9.219	36819	upstream	9	ss1388028709, ss1388028723, ss1388028773, ss1388028854, ss1388028904, ss1388028919, ss1388028922, ss1388028931, ss138802895,
12:7083132-7091918	all_pop	8.787	37251	upstream	8	ss1388028723, ss1388028770, ss1388028773, ss1388028854, ss1388028904, ss1388028922, ss1388028931, ss138802895,
12:7083132-7094334	EUR	11.203	37251	upstream	10	ss1388028723, ss1388028727, ss1388028773, ss1388028854, ss1388028904, ss1388028919, ss1388028922, ss1388028959, ss1388029004, ss138802900,
12:7085171-7091918	EAS	6.748	39290	upstream	6	ss1388028773, ss1388028854, ss1388028904, ss1388028922, ss1388028931, ss138802895,
12:7085171-7091918	SAS	6.748	39290	upstream	5	ss1388028773, ss1388028854, ss1388028904, ss1388028922, ss138802895,
12:7094250-7094334	AFR	0.085	48369	upstream	2	ss1388029004, ss138802900,
12:7094250-7094334	all_pop	0.085	48369	upstream	2	ss1388029004, ss138802900,
12:7094735-7094748	EUR	0.014	48854	upstream	7	ss1388029016, ss1388029017, ss1388029018, ss1388029019, ss1388029020, ss1388029021, ss138802902,
12:7094744-7094748	AFR	0.005	48863	upstream	5	ss1388029018, ss1388029019, ss1388029020, ss1388029021, ss138802902,
12:7094744-7094748	all_pop	0.005	48863	upstream	5	ss1388029018, ss1388029019, ss1388029020, ss1388029021, ss138802902,
12:7094744-7094748	AMR	0.005	48863	upstream	5	ss1388029018, ss1388029019, ss1388029020, ss1388029021, ss138802902,
12:7094744-7094748	EAS	0.005	48863	upstream	5	ss1388029018, ss1388029019, ss1388029020, ss1388029021, ss138802902,
12:7094744-7094748	SAS	0.005	48863	upstream	5	ss1388029018, ss1388029019, ss1388029020, ss1388029021, ss138802902,

Conservation score was not calculated