STRIDE-DB

Repeat Length	AFR	AMR	EUR	EAS	SAS	Repeat
13.8	28	4	12	0	16	ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAATAAAATAAAA
7.8	13	0	0	0	0	ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA
8.6	2	0	0	0	0	ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA
8.8	15	0	0	0	0	ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA
9.6	5	2	0	0	0	ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA
9.8	4	2	0	0	0	ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA
10.6	1	0	2	0	0	ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA
10.8	57	32	24	44	13	ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA
11.6	2	0	0	0	0	ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA
11.8	18	2	4	6	0	ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA
12.8	8	0	4	0	0	ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAATAAAA
13.6	2	0	0	0	0	ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAATAAAATAAA
14.6	0	0	2	2	0	ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAATAAAATAAAAAATA
14.8	39	4	10	8	29	ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAATAAAATAAAAAATAA
15.8	12	2	4	10	0	ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAATAAAATAAAAAATAAAATAA

Position	Disease/Trait	P-value	SNPs	Location with respect to STR	distance	Study
16:66486925	Neurofibrillary tangles (SNP x SNP interaction),	1.0E-11	rs9293140_x_rs11075634	downstream	-37376	Genome-wide interaction analysis of pathological hallmarks in Alzheimer's disease.
16:66510454	Blood protein levels,	4.0E-9	rs116925373	downstream	-13847	The relative contribution of DNA methylation and genetic variants on protein biomarkers for human diseases.

Flanking region : 5 kb 10 kb 50 kb

Position	HGVS	dbSNP id	Phenotype List	Distance	Clinvar Significance
16:66503748	NM_001178020.3(BEAN1):c.269G>A (p.Arg90Gln)	rs767479273	not provided	-20553	Uncertain significance
16:66512006	NM_004614.5(TK2):c.760C>T (p.Arg254Ter)	rs281865498	Mitochondrial DNA depletion syndrome, myopathic form	-12295	Uncertain significance
16:66512012	NM_004614.5(TK2):c.754C>T (p.Arg252Trp)	rs373264612	not provided	-12289	Uncertain significance
16:66512079	NM_004614.5(TK2):c.700-13G>A	rs16956600	not specified\|Mitochondrial DNA depletion syndrome, myopathic form\|not provided	-12222	Benign
16:66513722	NM_004614.5(TK2):c.699+6_699+9del	rs529176585	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	-10579	Conflicting interpretations of pathogenicity
16:66513750	NM_004614.5(TK2):c.680C>T (p.Pro227Leu)	rs754140768	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	-10551	Uncertain significance
16:66513786	NM_004614.5(TK2):c.644T>C (p.Leu215Pro)	rs281865497	Mitochondrial DNA depletion syndrome, myopathic form	-10515	Pathogenic
16:66513795	NM_004614.5(TK2):c.635T>A (p.Ile212Asn)	rs137854430	Mitochondrial DNA depletion syndrome, myopathic form	-10506	Pathogenic
16:66517148	NM_004614.5(TK2):c.604_606del (p.Lys202del)	rs281865501	Mitochondrial DNA depletion syndrome, myopathic form\|not provided\|Mitochondrial DNA depletion syndrome	-7153	Pathogenic
16:66517178	NM_004614.5(TK2):c.576G>A (p.Arg192=)	rs146963943	not specified\|not provided\|Mitochondrial DNA depletion syndrome, myopathic form	-7123	Benign
16:66517179	NM_004614.5(TK2):c.575G>A (p.Arg192Lys)	rs281865496	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	-7122	Pathogenic
16:66517192	NM_004614.5(TK2):c.562A>G (p.Thr188Ala)	rs281865495	Mitochondrial DNA depletion syndrome, myopathic form\|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3\|not provided	-7109	Likely pathogenic
16:66517207	NM_004614.5(TK2):c.547C>G (p.Arg183Gly)	rs137886900	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	-7094	Conflicting interpretations of pathogenicity
16:66517207	NM_004614.5(TK2):c.547C>T (p.Arg183Trp)	rs137886900	Mitochondrial DNA depletion syndrome, myopathic form\|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3\|not provided	-7094	Pathogenic
16:66517235	NM_004614.5(TK2):c.539-20A>G	rs146833395	not specified\|not provided	-7066	Benign
16:66517858	NM_004614.5(TK2):c.469G>A (p.Asp157Asn)	rs374777494	not provided	-6443	Likely pathogenic
16:66526925	NM_001197224.4(BEAN1):c.212G>A (p.Arg71His)	NA	not provided	2624	Uncertain significance
16:66526953	NM_001197224.4(BEAN1):c.240C>A (p.Gly80_His81=)	NA	not provided	2652	Uncertain significance
16:66528980	NM_004614.5(TK2):c.449+14A>C	rs144627957	not specified\|Mitochondrial DNA depletion syndrome, myopathic form\|not provided	4679	Benign
16:66529027	NM_004614.5(TK2):c.416C>T (p.Ala139Val)	rs281865494	Mitochondrial DNA depletion syndrome, myopathic form\|not provided\|Mitochondrial DNA depletion syndrome\|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3;Mitochondrial DNA depletion syndrome, myopathic form	4726	Pathogenic/Likely pathogenic
16:66529028	NM_004614.5(TK2):c.415G>A (p.Ala139Thr)	rs138479499	not provided\|Mitochondrial DNA depletion syndrome	4727	Pathogenic/Likely pathogenic
16:66529054	NM_004614.5(TK2):c.389G>A (p.Arg130Gln)	rs281865492	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	4753	Pathogenic
16:66529055	NM_004614.5(TK2):c.388C>T (p.Arg130Trp)	rs281865493	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	4754	Pathogenic
16:66531382	NM_004614.5(TK2):c.373C>T (p.Gln125Ter)	rs281865491	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	7081	Likely pathogenic
16:66531394	NM_004614.5(TK2):c.361C>A (p.His121Asn)	rs137854429	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	7093	Pathogenic
16:66531394	NM_004614.5(TK2):c.360_361delinsAA (p.His121Asn)	rs281865507	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	7093	Pathogenic
16:66531418	NM_004614.5(TK2):c.335_336dup (p.Val113fs)	rs281865506	Mitochondrial DNA depletion syndrome, myopathic form	7117	Pathogenic
16:66531421	NM_004614.5(TK2):c.334T>A (p.Tyr112Asn)	rs281865490	Mitochondrial DNA depletion syndrome, myopathic form	7120	Pathogenic
16:66531432	NM_004614.5(TK2):c.323C>T (p.Thr108Met)	rs137854431	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	7131	Pathogenic
16:66531454	NM_004614.5(TK2):c.301G>A (p.Asp101Asn)	rs148450491	not provided	7153	Likely benign
16:66536971	NM_004614.5(TK2):c.278A>G (p.Asn93Ser)	rs142291440	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	12670	Uncertain significance
16:66536981	NM_004614.5(TK2):c.268C>T (p.Arg90Cys)	rs281865489	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	12680	Likely pathogenic
16:66537021	GRCh37/hg19 16q21-22.1(chr16:66537021-67369281)x3	NA	See cases	12720	Uncertain significance
16:66541869	NM_004614.5(TK2):c.231+10C>T	rs187517309	not specified\|Mitochondrial DNA depletion syndrome, myopathic form\|not provided	17568	Benign/Likely benign
16:66541890	NM_004614.5(TK2):c.218_219dup (p.Thr74fs)	rs281865505	Mitochondrial DNA depletion syndrome, myopathic form	17589	Pathogenic
16:66541912	NM_004614.5(TK2):c.198C>G (p.Cys66Trp)	rs281865488	Mitochondrial DNA depletion syndrome, myopathic form	17611	Pathogenic
16:66541919	NM_004614.5(TK2):c.191C>T (p.Thr64Met)	rs281865487	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	17618	Conflicting interpretations of pathogenicity
16:66541937	NM_004614.5(TK2):c.173A>G (p.Asn58Ser)	rs138439950	Mitochondrial DNA depletion syndrome, myopathic form\|not provided\|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3;Mitochondrial DNA depletion syndrome, myopathic form	17636	Pathogenic/Likely pathogenic
16:66541951	NM_004614.5(TK2):c.159C>G (p.Ile53Met)	rs137854432	Mitochondrial DNA depletion syndrome, myopathic form	17650	Pathogenic
16:66541965	NM_004614.5(TK2):c.157-12G>A	rs117229729	not specified\|Mitochondrial DNA depletion syndrome, myopathic form\|not provided	17664	Benign
16:66542085	NM_004614.5(TK2):c.*3786C>T	rs74451221	Mitochondrial DNA depletion syndrome, myopathic form	17784	Benign
16:66542108	NM_004614.5(TK2):c.*3763G>T	rs549738791	Mitochondrial DNA depletion syndrome, myopathic form	17807	Uncertain significance
16:66542433	NM_004614.5(TK2):c.*3438G>A	rs745480813	Mitochondrial DNA depletion syndrome, myopathic form	18132	Uncertain significance
16:66542503	NM_004614.5(TK2):c.*3368G>T	rs1474245616	Mitochondrial DNA depletion syndrome, myopathic form	18202	Uncertain significance
16:66542540	NM_004614.5(TK2):c.*3331C>T	rs138127133	Mitochondrial DNA depletion syndrome, myopathic form	18239	Uncertain significance
16:66542586	NM_004614.5(TK2):c.*3285G>A	rs1169766872	Mitochondrial DNA depletion syndrome, myopathic form	18285	Uncertain significance
16:66542616	NM_004614.5(TK2):c.*3255A>G	rs774804296	Mitochondrial DNA depletion syndrome, myopathic form	18315	Uncertain significance
16:66542653	NM_004614.5(TK2):c.*3218A>C	rs1032599030	Mitochondrial DNA depletion syndrome, myopathic form	18352	Uncertain significance
16:66542678	NM_004614.5(TK2):c.*3193G>A	rs768065808	Mitochondrial DNA depletion syndrome, myopathic form	18377	Uncertain significance
16:66542886	NM_004614.5(TK2):c.*2985G>A	rs1185518504	Mitochondrial DNA depletion syndrome, myopathic form	18585	Uncertain significance
16:66542927	NM_004614.5(TK2):c.*2944G>T	rs1280782133	Mitochondrial DNA depletion syndrome, myopathic form	18626	Uncertain significance
16:66542957	NM_004614.5(TK2):c.*2914C>T	rs3743711	Mitochondrial DNA depletion syndrome, myopathic form	18656	Benign
16:66542969	NM_004614.5(TK2):c.*2902C>T	rs532588163	Mitochondrial DNA depletion syndrome, myopathic form	18668	Uncertain significance
16:66543098	NM_004614.5(TK2):c.*2773C>G	rs886052194	Mitochondrial DNA depletion syndrome, myopathic form	18797	Uncertain significance
16:66543234	NM_004614.5(TK2):c.*2637G>A	rs530570863	Mitochondrial DNA depletion syndrome, myopathic form	18933	Uncertain significance
16:66543331	NM_004614.5(TK2):c.*2540G>T	rs574199934	Mitochondrial DNA depletion syndrome, myopathic form	19030	Likely benign
16:66543421	NM_004614.5(TK2):c.*2450A>G	rs35138698	Mitochondrial DNA depletion syndrome, myopathic form	19120	Benign
16:66543438	NM_004614.5(TK2):c.*2433A>G	rs964325376	Mitochondrial DNA depletion syndrome, myopathic form	19137	Uncertain significance
16:66543452	NM_004614.5(TK2):c.*2419C>T	rs74372298	Mitochondrial DNA depletion syndrome, myopathic form	19151	Benign
16:66543496	NM_004614.5(TK2):c.*2375G>A	rs567482803	Mitochondrial DNA depletion syndrome, myopathic form	19195	Uncertain significance
16:66543573	NM_004614.5(TK2):c.*2298C>T	rs139593959	Mitochondrial DNA depletion syndrome, myopathic form	19272	Likely benign
16:66543650	NM_004614.5(TK2):c.*2221T>C	rs3743712	Mitochondrial DNA depletion syndrome, myopathic form	19349	Benign
16:66543725	NM_004614.5(TK2):c.*2146G>A	rs963895395	Mitochondrial DNA depletion syndrome, myopathic form	19424	Uncertain significance
16:66543749	NM_004614.5(TK2):c.*2122G>A	rs193271947	Mitochondrial DNA depletion syndrome	19448	Uncertain significance
16:66543750	NM_004614.5(TK2):c.*2121C>T	rs10454065	Mitochondrial DNA depletion syndrome, myopathic form	19449	Uncertain significance
16:66543885	NM_004614.5(TK2):c.*1986G>C	rs1435674483	Mitochondrial DNA depletion syndrome, myopathic form	19584	Uncertain significance
16:66543912	NM_004614.5(TK2):c.*1959G>A	rs145016391	Mitochondrial DNA depletion syndrome, myopathic form	19611	Benign
16:66544112	NM_004614.5(TK2):c.1758_1759insTT	rs886052195	Mitochondrial DNA depletion syndrome	19811	Uncertain significance
16:66544112	NM_004614.5(TK2):c.1758_1759insT	rs886052195	Mitochondrial DNA depletion syndrome	19811	Uncertain significance
16:66544113	NM_004614.5(TK2):c.1756_1757dup	rs34931863	Mitochondrial DNA depletion syndrome	19812	Uncertain significance
16:66544113	NM_004614.5(TK2):c.*1758del	rs886052196	Mitochondrial DNA depletion syndrome	19812	Uncertain significance
16:66544131	NM_004614.5(TK2):c.*1740T>C	rs548520268	Mitochondrial DNA depletion syndrome, myopathic form	19830	Likely benign
16:66544131	NM_004614.5(TK2):c.1739_1740insC	rs886052197	Mitochondrial DNA depletion syndrome	19830	Uncertain significance
16:66544133	NM_004614.5(TK2):c.*1738C>T	rs886052198	Mitochondrial DNA depletion syndrome, myopathic form	19832	Uncertain significance
16:66544189	NM_004614.5(TK2):c.*1682T>G	rs886052199	Mitochondrial DNA depletion syndrome, myopathic form	19888	Uncertain significance
16:66544190	NM_004614.5(TK2):c.*1681A>G	rs538743722	Mitochondrial DNA depletion syndrome, myopathic form	19889	Uncertain significance
16:66544200	NM_004614.5(TK2):c.*1671G>C	rs1964415276	Mitochondrial DNA depletion syndrome, myopathic form	19899	Uncertain significance
16:66544253	NM_004614.5(TK2):c.*1618C>A	rs886052200	Mitochondrial DNA depletion syndrome, myopathic form	19952	Uncertain significance
16:66544274	NM_004614.5(TK2):c.*1597G>A	rs1043059553	Mitochondrial DNA depletion syndrome, myopathic form	19973	Uncertain significance
16:66544279	NM_004614.5(TK2):c.*1591dup	rs886052201	Mitochondrial DNA depletion syndrome	19978	Uncertain significance
16:66544399	NM_004614.5(TK2):c.*1472A>T	rs886052202	Mitochondrial DNA depletion syndrome, myopathic form	20098	Uncertain significance
16:66544408	NM_004614.5(TK2):c.*1463T>G	rs1964420428	Mitochondrial DNA depletion syndrome, myopathic form	20107	Uncertain significance
16:66544416	NM_004614.5(TK2):c.*1455C>G	rs886052203	Mitochondrial DNA depletion syndrome, myopathic form	20115	Uncertain significance
16:66544428	NM_004614.5(TK2):c.*1443C>A	rs577231164	Mitochondrial DNA depletion syndrome, myopathic form	20127	Uncertain significance
16:66544468	NM_004614.5(TK2):c.*1403A>G	rs886052204	Mitochondrial DNA depletion syndrome, myopathic form	20167	Uncertain significance
16:66544538	NM_004614.5(TK2):c.*1333G>T	rs187682220	Mitochondrial DNA depletion syndrome, myopathic form	20237	Uncertain significance
16:66544579	NM_004614.5(TK2):c.*1292G>A	rs561996737	Mitochondrial DNA depletion syndrome, myopathic form	20278	Uncertain significance
16:66544659	NM_004614.5(TK2):c.*1212C>T	rs745307045	Mitochondrial DNA depletion syndrome, myopathic form	20358	Uncertain significance
16:66544827	NM_004614.5(TK2):c.*1044C>A	rs879622108	Mitochondrial DNA depletion syndrome, myopathic form	20526	Uncertain significance
16:66544842	NM_004614.5(TK2):c.*1029T>A	rs948674132	Mitochondrial DNA depletion syndrome, myopathic form	20541	Uncertain significance
16:66544853	NM_001040138.2(CKLF):c.-7863_-2035delins[AC010542.7:g.65062_65110]	NA	Mitochondrial DNA depletion syndrome, myopathic form	20552	Pathogenic
16:66544950	NM_004614.5(TK2):c.*921G>A	rs886052205	Mitochondrial DNA depletion syndrome, myopathic form	20649	Uncertain significance
16:66545038	NM_004614.5(TK2):c.*833T>G	rs373278953	Mitochondrial DNA depletion syndrome, myopathic form	20737	Uncertain significance
16:66545062	NM_004614.5(TK2):c.*809C>T	rs886052206	Mitochondrial DNA depletion syndrome, myopathic form	20761	Uncertain significance
16:66545098	NM_004614.5(TK2):c.*773C>T	rs975262215	Mitochondrial DNA depletion syndrome, myopathic form	20797	Uncertain significance
16:66545106	NM_004614.5(TK2):c.*765T>C	rs880530	Mitochondrial DNA depletion syndrome, myopathic form	20805	Benign
16:66545111	NM_004614.5(TK2):c.*760T>G	rs149832105	Mitochondrial DNA depletion syndrome, myopathic form	20810	Likely benign
16:66545142	NM_004614.5(TK2):c.*729A>G	rs886160476	Mitochondrial DNA depletion syndrome, myopathic form	20841	Uncertain significance
16:66545183	NM_004614.5(TK2):c.*688C>T	rs886052207	Mitochondrial DNA depletion syndrome, myopathic form	20882	Uncertain significance
16:66545256	NM_004614.5(TK2):c.*615A>C	rs886052208	Mitochondrial DNA depletion syndrome, myopathic form	20955	Uncertain significance
16:66545276	NM_004614.5(TK2):c.*595G>A	rs886052209	Mitochondrial DNA depletion syndrome, myopathic form	20975	Uncertain significance
16:66545386	NM_004614.5(TK2):c.*485C>G	rs183596247	Mitochondrial DNA depletion syndrome, myopathic form	21085	Uncertain significance
16:66545420	NM_004614.5(TK2):c.*451G>A	rs369868888	Mitochondrial DNA depletion syndrome, myopathic form	21119	Uncertain significance
16:66545427	NM_004614.5(TK2):c.*444G>T	rs775590447	Mitochondrial DNA depletion syndrome, myopathic form	21126	Uncertain significance
16:66545529	NM_004614.5(TK2):c.*342C>A	rs544189950	Mitochondrial DNA depletion syndrome, myopathic form	21228	Uncertain significance
16:66545544	NM_004614.5(TK2):c.*327G>A	rs575041315	Mitochondrial DNA depletion syndrome, myopathic form	21243	Uncertain significance
16:66545648	NM_004614.5(TK2):c.*223G>A	rs904749580	Mitochondrial DNA depletion syndrome, myopathic form	21347	Uncertain significance
16:66545671	NM_004614.5(TK2):c.*200G>T	rs926935953	Mitochondrial DNA depletion syndrome, myopathic form	21370	Uncertain significance
16:66545856	NM_004614.5(TK2):c.*15A>G	rs756911935	Mitochondrial DNA depletion syndrome, myopathic form	21555	Uncertain significance
16:66545871	NC_000016.9:g.(?_66545871)_(72146396_?)dup	NA	Dyskeratosis congenita, autosomal dominant 6\|not provided\|Immunodeficiency	21570	Uncertain significance
16:66545876	NM_004614.5(TK2):c.793C>T (p.Pro265Ser)	NA	not provided	21575	Uncertain significance
16:66545877	NM_004614.5(TK2):c.792C>T (p.Cys264=)	NA	not provided	21576	Likely benign
16:66545887	NM_004614.5(TK2):c.782G>T (p.Arg261Leu)	NA	not provided	21586	Uncertain significance
16:66545887	NM_004614.5(TK2):c.782G>A (p.Arg261Gln)	NA	not provided	21586	Uncertain significance
16:66545906	NM_004614.5(TK2):c.763A>G (p.Ile255Val)	rs144419486	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	21605	Uncertain significance
16:66545909	NM_004614.5(TK2):c.760C>T (p.Arg254Ter)	rs281865498	Mitochondrial DNA depletion syndrome, myopathic form	21608	Uncertain significance
16:66545909	NM_004614.5(TK2):c.760C>T (p.Arg254Ter)	rs281865498	Mitochondrial DNA depletion syndrome, myopathic form	21608	Uncertain significance
16:66545915	NM_004614.5(TK2):c.754C>T (p.Arg252Trp)	rs373264612	not provided	21614	Uncertain significance
16:66545915	NM_004614.5(TK2):c.754C>T (p.Arg252Trp)	rs373264612	not provided	21614	Uncertain significance
16:66545925	NM_004614.5(TK2):c.744T>C (p.Phe248=)	rs147834546	not provided	21624	Likely benign
16:66545932	NM_004614.5(TK2):c.737A>T (p.Glu246Val)	NA	not provided	21631	Uncertain significance
16:66545942	NM_004614.5(TK2):c.727A>C (p.Arg243=)	rs1057521899	not specified	21641	Likely benign
16:66545954	NM_004614.5(TK2):c.715C>T (p.His239Tyr)	NA	not provided	21653	Uncertain significance
16:66545961	NM_004614.5(TK2):c.708G>A (p.Glu236=)	NA	not provided	21660	Likely benign
16:66545963	NM_004614.5(TK2):c.706G>A (p.Glu236Lys)	NA	not provided	21662	Uncertain significance
16:66545980	NM_004614.5(TK2):c.700-11C>A	NA	not provided	21679	Likely benign
16:66545982	NM_004614.5(TK2):c.700-13G>A	rs16956600	not specified\|Mitochondrial DNA depletion syndrome, myopathic form\|not provided	21681	Benign
16:66545982	NM_004614.5(TK2):c.700-13G>A	rs16956600	not specified\|Mitochondrial DNA depletion syndrome, myopathic form\|not provided	21681	Benign
16:66545984	NM_004614.5(TK2):c.700-15G>A	NA	not provided	21683	Likely benign
16:66545988	NM_004614.5(TK2):c.700-19C>T	NA	not provided	21687	Likely benign
16:66545989	NM_004614.5(TK2):c.700-20C>T	NA	not provided	21688	Likely benign
16:66546029	NM_004614.5(TK2):c.700-60G>A	NA	not provided	21728	Benign
16:66547555	NM_004614.5(TK2):c.699+79C>T	NA	not provided	23254	Likely benign
16:66547618	NM_004614.5(TK2):c.699+16T>A	NA	not provided	23317	Likely benign
16:66547621	NM_004614.5(TK2):c.699+13C>T	rs373230604	Mitochondrial DNA depletion syndrome, myopathic form	23320	Uncertain significance
16:66547625	NM_004614.5(TK2):c.699+6_699+9del	rs529176585	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	23324	Conflicting interpretations of pathogenicity
16:66547625	NM_004614.5(TK2):c.699+6_699+9del	rs529176585	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	23324	Conflicting interpretations of pathogenicity
16:66547639	NM_004614.5(TK2):c.694G>C (p.Val232Leu)	NA	not provided	23338	Uncertain significance
16:66547639	NM_004614.5(TK2):c.694G>A (p.Val232Ile)	NA	not provided	23338	Uncertain significance
16:66547641	NM_004614.5(TK2):c.692C>T (p.Pro231Leu)	NA	Mitochondrial DNA depletion syndrome, myopathic form	23340	Pathogenic
16:66547645	NM_004614.5(TK2):c.688del (p.Ala230fs)	NA	not provided	23344	Likely pathogenic
16:66547648	NM_004614.5(TK2):c.685G>C (p.Ala229Pro)	NA	not provided	23347	Uncertain significance
16:66547651	NM_004614.5(TK2):c.682A>G (p.Met228Val)	NA	not provided	23350	Uncertain significance
16:66547653	NM_004614.5(TK2):c.680C>T (p.Pro227Leu)	rs754140768	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	23352	Uncertain significance
16:66547653	NM_004614.5(TK2):c.680C>T (p.Pro227Leu)	rs754140768	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	23352	Uncertain significance
16:66547674	NM_004614.5(TK2):c.659T>C (p.Leu220Pro)	rs1168827071	Mitochondrial DNA depletion syndrome, myopathic form\|not provided\|Inborn mitochondrial myopathy	23373	Likely pathogenic
16:66547678	NM_004614.5(TK2):c.655T>C (p.Trp219Arg)	rs748655443	Mitochondrial DNA depletion syndrome, myopathic form	23377	Likely pathogenic
16:66547682	NM_004614.5(TK2):c.651G>A (p.Glu217=)	NA	not provided	23381	Uncertain significance
16:66547689	NM_004614.5(TK2):c.644T>C (p.Leu215Pro)	rs281865497	Mitochondrial DNA depletion syndrome, myopathic form	23388	Pathogenic
16:66547689	NM_004614.5(TK2):c.644T>C (p.Leu215Pro)	rs281865497	Mitochondrial DNA depletion syndrome, myopathic form	23388	Pathogenic
16:66547692	NM_004614.5(TK2):c.641A>G (p.His214Arg)	NA	not provided	23391	Uncertain significance
16:66547698	NM_004614.5(TK2):c.635T>A (p.Ile212Asn)	rs137854430	Mitochondrial DNA depletion syndrome, myopathic form	23397	Pathogenic
16:66547698	NM_004614.5(TK2):c.635T>A (p.Ile212Asn)	rs137854430	Mitochondrial DNA depletion syndrome, myopathic form	23397	Pathogenic
16:66547705	NM_004614.5(TK2):c.628G>A (p.Glu210Lys)	NA	not provided	23404	Uncertain significance
16:66547710	NM_004614.5(TK2):c.623A>G (p.Tyr208Cys)	NA	not provided	23409	Likely pathogenic
16:66547713	NM_004614.5(TK2):c.620A>T (p.Glu207Val)	rs141225776	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	23412	Uncertain significance
16:66547719	NM_004614.5(TK2):c.619-5G>C	NA	not provided	23418	Benign
16:66547729	NM_004614.5(TK2):c.619-15G>A	NA	not provided	23428	Likely benign
16:66547767	NM_004614.5(TK2):c.619-53A>G	rs2241619	not provided\|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3\|Mitochondrial DNA depletion syndrome, myopathic form	23466	Benign
16:66547777	NM_004614.5(TK2):c.619-63C>G	rs2241620	not provided	23476	Benign
16:66547875	NM_004614.5(TK2):c.619-161G>A	NA	not provided	23574	Likely benign
16:66548963	NM_004614.5(TK2):c.156+15T>C	rs80083556	not specified\|Mitochondrial DNA depletion syndrome, myopathic form\|not provided	24662	Benign
16:66548976	NM_004614.5(TK2):c.156+2T>C	rs281865499	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	24675	Pathogenic/Likely pathogenic
16:66548983	NM_004614.5(TK2):c.150dup (p.Ser51fs)	rs281865504	Mitochondrial DNA depletion syndrome, myopathic form	24682	Pathogenic
16:66548991	NM_004614.5(TK2):c.142dup (p.Glu48fs)	rs281865503	Mitochondrial DNA depletion syndrome, myopathic form	24690	Pathogenic
16:66549001	NM_004614.5(TK2):c.133C>T (p.Gln45Ter)	rs281865486	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	24700	Pathogenic
16:66549002	NM_004614.5(TK2):c.129_132del (p.Lys43fs)	rs281865500	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	24701	Pathogenic
16:66549940	NM_004614.5(TK2):c.122C>A (p.Pro41His)	rs201904720	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	25639	Conflicting interpretations of pathogenicity
16:66549968	NM_004614.5(TK2):c.94C>T (p.Arg32Trp)	rs200121712	not specified\|Mitochondrial DNA depletion syndrome, myopathic form\|not provided	25667	Benign/Likely benign
16:66550053	NM_004614.5(TK2):c.8dup (p.Trp4fs)	rs281865502	Mitochondrial DNA depletion syndrome, myopathic form	25752	Pathogenic
16:66550091	NM_004614.5(TK2):c.-30C>G	rs3743715	not specified\|Mitochondrial DNA depletion syndrome, myopathic form\|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	25790	Benign
16:66550099	NM_004614.5(TK2):c.-38A>G	rs3743716	not specified\|Mitochondrial DNA depletion syndrome, myopathic form\|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	25798	Benign
16:66551019	NM_004614.5(TK2):c.618+20T>A	NA	not provided	26718	Uncertain significance
16:66551041	NM_004614.5(TK2):c.616C>T (p.Leu206=)	NA	not provided	26740	Likely benign
16:66551043	NM_004614.5(TK2):c.614C>T (p.Pro205Leu)	NA	not provided	26742	Uncertain significance
16:66551051	NM_004614.5(TK2):c.604_606del (p.Lys202del)	rs281865501	Mitochondrial DNA depletion syndrome, myopathic form\|not provided\|Mitochondrial DNA depletion syndrome	26750	Pathogenic
16:66551051	NM_004614.5(TK2):c.604_606del (p.Lys202del)	rs281865501	Mitochondrial DNA depletion syndrome, myopathic form\|not provided\|Mitochondrial DNA depletion syndrome	26750	Pathogenic
16:66551052	NM_004614.5(TK2):c.605A>G (p.Lys202Arg)	NA	not provided	26751	Uncertain significance
16:66551066	NM_004614.5(TK2):c.591C>T (p.Cys197=)	NA	not provided	26765	Uncertain significance
16:66551069	NM_004614.5(TK2):c.588A>T (p.Arg196Ser)	NA	not specified	26768	Uncertain significance
16:66551074	NM_004614.5(TK2):c.583A>T (p.Lys195Ter)	rs886041794	not provided	26773	Pathogenic
16:66551081	NM_004614.5(TK2):c.576G>A (p.Arg192=)	rs146963943	not specified\|not provided\|Mitochondrial DNA depletion syndrome, myopathic form	26780	Benign
16:66551081	NM_004614.5(TK2):c.576G>A (p.Arg192=)	rs146963943	not specified\|not provided\|Mitochondrial DNA depletion syndrome, myopathic form	26780	Benign
16:66551082	NM_004614.5(TK2):c.575G>A (p.Arg192Lys)	rs281865496	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	26781	Pathogenic
16:66551082	NM_004614.5(TK2):c.575G>A (p.Arg192Lys)	rs281865496	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	26781	Pathogenic
16:66551095	NM_004614.5(TK2):c.562A>G (p.Thr188Ala)	rs281865495	Mitochondrial DNA depletion syndrome, myopathic form\|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3\|not provided	26794	Likely pathogenic
16:66551095	NM_004614.5(TK2):c.562A>G (p.Thr188Ala)	rs281865495	Mitochondrial DNA depletion syndrome, myopathic form\|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3\|not provided	26794	Likely pathogenic
16:66551096	NM_004614.5(TK2):c.561G>T (p.Glu187Asp)	NA	not provided	26795	Uncertain significance
16:66551109	NM_004614.5(TK2):c.548G>A (p.Arg183Gln)	NA	not provided	26808	Uncertain significance
16:66551110	NM_004614.5(TK2):c.547C>T (p.Arg183Trp)	rs137886900	Mitochondrial DNA depletion syndrome, myopathic form\|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3\|not provided	26809	Pathogenic
16:66551110	NM_004614.5(TK2):c.547C>G (p.Arg183Gly)	rs137886900	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	26809	Conflicting interpretations of pathogenicity
16:66551110	NM_004614.5(TK2):c.547C>G (p.Arg183Gly)	rs137886900	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	26809	Conflicting interpretations of pathogenicity
16:66551110	NM_004614.5(TK2):c.547C>T (p.Arg183Trp)	rs137886900	Mitochondrial DNA depletion syndrome, myopathic form\|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3\|not provided	26809	Pathogenic
16:66551110	NM_004614.5(TK2):c.547C>A (p.Arg183=)	NA	not provided	26809	Uncertain significance
16:66551123	NM_004614.5(TK2):c.539-5C>A	NA	not provided	26822	Uncertain significance
16:66551136	NM_004614.5(TK2):c.539-18G>A	NA	not provided	26835	Likely benign
16:66551137	NM_004614.5(TK2):c.539-19C>T	NA	not provided	26836	Likely benign
16:66551138	NM_004614.5(TK2):c.539-20A>G	rs146833395	not specified\|not provided	26837	Benign
16:66551138	NM_004614.5(TK2):c.539-20A>G	rs146833395	not specified\|not provided	26837	Benign
16:66551294	NM_004614.5(TK2):c.539-176G>A	rs75641132	not provided	26993	Benign
16:66551563	NM_004614.5(TK2):c.538+129G>A	NA	not provided	27262	Likely benign
16:66551673	NM_004614.5(TK2):c.538+19A>G	NA	not provided	27372	Likely benign
16:66551674	NM_004614.5(TK2):c.538+18C>T	NA	not provided	27373	Likely benign
16:66551679	NM_004614.5(TK2):c.538+13C>T	NA	not provided	27378	Likely benign
16:66551710	NM_004614.5(TK2):c.520G>C (p.Val174Leu)	rs149036717	not provided	27409	Conflicting interpretations of pathogenicity
16:66551710	NM_004614.5(TK2):c.520G>A (p.Val174Met)	NA	not provided	27409	Uncertain significance
16:66551711	NM_004614.5(TK2):c.519C>T (p.Asp173=)	rs143378852	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	27410	Conflicting interpretations of pathogenicity
16:66551716	NM_004614.5(TK2):c.514A>G (p.Met172Val)	rs1057520686	not specified\|not provided	27415	Conflicting interpretations of pathogenicity
16:66551726	NM_004614.5(TK2):c.504C>G (p.Ile168Met)	NA	not provided	27425	Uncertain significance
16:66551733	NM_004614.5(TK2):c.497A>T (p.Asp166Val)	rs921593414	not provided\|Mitochondrial DNA depletion syndrome, myopathic form	27432	Conflicting interpretations of pathogenicity
16:66551744	NM_004614.5(TK2):c.486G>T (p.Ser162=)	rs570920543	not provided	27443	Likely benign
16:66551744	NM_004614.5(TK2):c.486G>A (p.Ser162=)	NA	not provided	27443	Likely benign
16:66551744	NM_004614.5(TK2):c.486G>C (p.Ser162=)	NA	not provided	27443	Likely benign
16:66551745	NM_004614.5(TK2):c.485C>T (p.Ser162Leu)	NA	not provided	27444	Uncertain significance
16:66551747	NM_004614.5(TK2):c.483G>A (p.Leu161=)	NA	not provided	27446	Likely benign
16:66551757	NM_004614.5(TK2):c.473A>G (p.Tyr158Cys)	NA	not provided	27456	Uncertain significance
16:66551758	NM_004614.5(TK2):c.472T>C (p.Tyr158His)	NA	not provided	27457	Uncertain significance
16:66551761	NM_004614.5(TK2):c.469G>A (p.Asp157Asn)	rs374777494	not provided	27460	Likely pathogenic
16:66551761	NM_004614.5(TK2):c.469G>A (p.Asp157Asn)	rs374777494	not provided	27460	Likely pathogenic
16:66551761	NM_004614.5(TK2):c.469G>T (p.Asp157Tyr)	NA	not provided	27460	Uncertain significance
16:66551793	NM_004614.5(TK2):c.450-13A>G	rs886052210	Mitochondrial DNA depletion syndrome, myopathic form	27492	Uncertain significance
16:66551795	NM_004614.5(TK2):c.450-16dup	NA	not provided	27494	Likely benign
16:66551797	NM_004614.5(TK2):c.450-17T>C	NA	not provided	27496	Likely benign
16:66551800	NM_004614.5(TK2):c.450-20C>A	NA	not provided	27499	Likely benign
16:66562767	NM_004614.5(TK2):c.449+130C>T	rs9930226	not provided	38466	Benign
16:66562877	NM_004614.5(TK2):c.449+20T>C	NA	not provided	38576	Likely benign
16:66562879	NM_004614.5(TK2):c.449+18G>A	NA	not provided	38578	Likely benign
16:66562883	NM_004614.5(TK2):c.449+14A>C	rs144627957	not specified\|Mitochondrial DNA depletion syndrome, myopathic form\|not provided	38582	Benign
16:66562883	NM_004614.5(TK2):c.449+14A>C	rs144627957	not specified\|Mitochondrial DNA depletion syndrome, myopathic form\|not provided	38582	Benign
16:66562883	NM_004614.5(TK2):c.449+14A>G	NA	not provided	38582	Likely benign
16:66562897	NM_004614.5(TK2):c.447_448dup (p.Ser150fs)	NA	not provided	38596	Pathogenic
16:66562902	NM_004614.5(TK2):c.444T>C (p.Tyr148=)	rs768364178	not specified	38601	Likely benign
16:66562905	NM_004614.5(TK2):c.441del (p.Tyr148fs)	NA	not provided	38604	Pathogenic
16:66562930	NM_004614.5(TK2):c.416C>T (p.Ala139Val)	rs281865494	Mitochondrial DNA depletion syndrome, myopathic form\|not provided\|Mitochondrial DNA depletion syndrome\|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3;Mitochondrial DNA depletion syndrome, myopathic form	38629	Pathogenic/Likely pathogenic
16:66562930	NM_004614.5(TK2):c.416C>T (p.Ala139Val)	rs281865494	Mitochondrial DNA depletion syndrome, myopathic form\|not provided\|Mitochondrial DNA depletion syndrome\|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3;Mitochondrial DNA depletion syndrome, myopathic form	38629	Pathogenic/Likely pathogenic
16:66562931	NM_004614.5(TK2):c.415G>A (p.Ala139Thr)	rs138479499	not provided\|Mitochondrial DNA depletion syndrome	38630	Pathogenic/Likely pathogenic
16:66562931	NM_004614.5(TK2):c.415G>A (p.Ala139Thr)	rs138479499	not provided\|Mitochondrial DNA depletion syndrome	38630	Pathogenic/Likely pathogenic
16:66562931	NM_004614.5(TK2):c.415G>T (p.Ala139Ser)	rs138479499	not provided	38630	Conflicting interpretations of pathogenicity
16:66562932	NM_004614.5(TK2):c.414C>T (p.Ser138=)	rs773566302	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	38631	Conflicting interpretations of pathogenicity
16:66562932	NM_004614.5(TK2):c.414C>A (p.Ser138Arg)	NA	Mitochondrial DNA depletion syndrome, myopathic form	38631	Pathogenic
16:66562938	NM_004614.5(TK2):c.408T>C (p.Ile136=)	NA	not provided	38637	Likely benign
16:66562941	NM_004614.5(TK2):c.405G>A (p.Ser135=)	NA	not provided	38640	Likely benign
16:66562950	NM_004614.5(TK2):c.396G>A (p.Met132Ile)	NA	not provided	38649	Uncertain significance
16:66562957	NM_004614.5(TK2):c.389G>A (p.Arg130Gln)	rs281865492	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	38656	Pathogenic
16:66562957	NM_004614.5(TK2):c.389G>A (p.Arg130Gln)	rs281865492	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	38656	Pathogenic
16:66562958	NM_004614.5(TK2):c.388C>T (p.Arg130Trp)	rs281865493	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	38657	Pathogenic
16:66562958	NM_004614.5(TK2):c.388C>T (p.Arg130Trp)	rs281865493	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	38657	Pathogenic
16:66562968	NM_004614.5(TK2):c.378G>A (p.Val126=)	NA	not provided	38667	Likely benign
16:66562969	NM_004614.5(TK2):c.377T>C (p.Val126Ala)	NA	not provided	38668	Uncertain significance
16:66562970	NM_004614.5(TK2):c.376G>A (p.Val126Met)	NA	not provided	38669	Uncertain significance
16:66562975	NM_004614.5(TK2):c.376-5T>C	NA	not provided	38674	Likely benign
16:66562978	NM_004614.5(TK2):c.376-8T>C	NA	not provided	38677	Likely benign
16:66563089	NM_004614.5(TK2):c.376-119C>A	rs117991260	not provided	38788	Likely benign
16:66563230	NM_004614.5(TK2):c.376-260C>T	NA	not provided	38929	Benign
16:66565056	NM_004614.5(TK2):c.375+227T>A	rs78005554	not provided	40755	Benign
16:66565280	NM_004614.5(TK2):c.375+3A>G	NA	not provided	40979	Uncertain significance
16:66565283	NM_004614.5(TK2):c.375G>C (p.Gln125His)	rs760389661	not provided	40982	Uncertain significance
16:66565285	NM_004614.5(TK2):c.373C>T (p.Gln125Ter)	rs281865491	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	40984	Likely pathogenic
16:66565285	NM_004614.5(TK2):c.373C>T (p.Gln125Ter)	rs281865491	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	40984	Likely pathogenic
16:66565285	NM_004614.5(TK2):c.372_373delinsCT (p.Gln125Ter)	rs886039669	not provided\|Mitochondrial DNA depletion syndrome, myopathic form	40984	Pathogenic
16:66565290	NM_004614.5(TK2):c.368G>A (p.Arg123His)	NA	not provided	40989	Uncertain significance
16:66565291	NM_004614.5(TK2):c.367C>T (p.Arg123Cys)	NA	not provided	40990	Uncertain significance
16:66565291	NM_004614.5(TK2):c.367C>G (p.Arg123Gly)	NA	not provided	40990	Likely benign
16:66565293	NM_004614.5(TK2):c.365C>T (p.Thr122Ile)	NA	not provided	40992	Uncertain significance
16:66565297	NM_004614.5(TK2):c.361C>A (p.His121Asn)	rs137854429	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	40996	Pathogenic
16:66565297	NM_004614.5(TK2):c.360_361delinsAA (p.His121Asn)	rs281865507	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	40996	Pathogenic
16:66565297	NM_004614.5(TK2):c.361C>A (p.His121Asn)	rs137854429	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	40996	Pathogenic
16:66565297	NM_004614.5(TK2):c.360_361delinsAA (p.His121Asn)	rs281865507	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	40996	Pathogenic
16:66565298	NM_004614.5(TK2):c.360G>A (p.Arg120=)	rs191278143	not provided	40997	Likely benign
16:66565309	NM_004614.5(TK2):c.349A>T (p.Met117Leu)	NA	not provided	41008	Likely pathogenic
16:66565310	NM_004614.5(TK2):c.348C>T (p.Thr116=)	NA	not provided	41009	Likely benign
16:66565313	NM_004614.5(TK2):c.345C>T (p.Leu115=)	rs1397375184	not provided	41012	Likely benign
16:66565320	NM_004614.5(TK2):c.338T>A (p.Val113Glu)	rs746707855	Mitochondrial DNA depletion syndrome, myopathic form	41019	Likely pathogenic
16:66565321	NM_004614.5(TK2):c.335_336dup (p.Val113fs)	rs281865506	Mitochondrial DNA depletion syndrome, myopathic form	41020	Pathogenic
16:66565321	NM_004614.5(TK2):c.335_336dup (p.Val113fs)	rs281865506	Mitochondrial DNA depletion syndrome, myopathic form	41020	Pathogenic
16:66565324	NM_004614.5(TK2):c.334T>A (p.Tyr112Asn)	rs281865490	Mitochondrial DNA depletion syndrome, myopathic form	41023	Pathogenic
16:66565324	NM_004614.5(TK2):c.334T>A (p.Tyr112Asn)	rs281865490	Mitochondrial DNA depletion syndrome, myopathic form	41023	Pathogenic
16:66565329	NM_004614.5(TK2):c.329A>G (p.Gln110Arg)	NA	not provided	41028	Uncertain significance
16:66565330	NM_004614.5(TK2):c.328C>T (p.Gln110Ter)	rs1965109135	Mitochondrial DNA depletion syndrome, myopathic form	41029	Pathogenic
16:66565331	NM_004614.5(TK2):c.327A>G (p.Leu109=)	NA	not provided	41030	Likely benign
16:66565334	NM_004614.5(TK2):c.324G>A (p.Thr108=)	NA	not provided	41033	Likely benign
16:66565335	NM_004614.5(TK2):c.323C>T (p.Thr108Met)	rs137854431	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	41034	Pathogenic
16:66565335	NM_004614.5(TK2):c.323C>T (p.Thr108Met)	rs137854431	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	41034	Pathogenic
16:66565336	NM_004614.5(TK2):c.322A>G (p.Thr108Ala)	NA	not provided	41035	Uncertain significance
16:66565347	NM_004614.5(TK2):c.311G>A (p.Arg104His)	NA	Abnormality of the musculature\|not provided	41046	Conflicting interpretations of pathogenicity
16:66565348	NM_004614.5(TK2):c.310C>T (p.Arg104Cys)	rs1194187379	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	41047	Conflicting interpretations of pathogenicity
16:66565356	NM_004614.5(TK2):c.302A>G (p.Asp101Gly)	NA	not provided	41055	Uncertain significance
16:66565357	NM_004614.5(TK2):c.301G>A (p.Asp101Asn)	rs148450491	not provided	41056	Likely benign
16:66565357	NM_004614.5(TK2):c.301G>A (p.Asp101Asn)	rs148450491	not provided	41056	Likely benign
16:66565358	NM_004614.5(TK2):c.300C>T (p.His100=)	rs749383225	Mitochondrial DNA depletion syndrome, myopathic form	41057	Uncertain significance
16:66565365	NM_004614.5(TK2):c.293T>C (p.Met98Thr)	NA	not provided	41064	Uncertain significance
16:66565370	NM_004614.5(TK2):c.288C>T (p.Gly96=)	rs886052211	Mitochondrial DNA depletion syndrome, myopathic form	41069	Uncertain significance
16:66565403	NM_004614.5(TK2):c.286-31G>T	NA	not provided	41102	Likely benign
16:66565492	NM_004614.5(TK2):c.286-120T>C	NA	not provided	41191	Benign
16:66570847	NC_000016.9:g.(?_66570847)_(66570940_?)del	NA	not provided	46546	Uncertain significance
16:66570854	NM_004614.5(TK2):c.285+13T>C	NA	not provided	46553	Likely benign
16:66570859	NM_004614.5(TK2):c.285+8G>C	NA	not provided	46558	Likely benign
16:66570872	NM_004614.5(TK2):c.280C>T (p.Pro94Ser)	NA	not provided	46571	Uncertain significance
16:66570874	NM_004614.5(TK2):c.278A>G (p.Asn93Ser)	rs142291440	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	46573	Uncertain significance
16:66570874	NM_004614.5(TK2):c.278A>G (p.Asn93Ser)	rs142291440	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	46573	Uncertain significance
16:66570884	NM_004614.5(TK2):c.268C>T (p.Arg90Cys)	rs281865489	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	46583	Likely pathogenic
16:66570884	NM_004614.5(TK2):c.268C>T (p.Arg90Cys)	rs281865489	Mitochondrial DNA depletion syndrome, myopathic form\|not provided	46583	Likely pathogenic
16:66570901	NM_004614.5(TK2):c.251C>G (p.Ser84Cys)	NA	not provided	46600	Uncertain significance
16:66570904	NM_004614.5(TK2):c.248T>C (p.Val83Ala)	NA	not provided	46603	Uncertain significance
16:66570906	NM_004614.5(TK2):c.246T>C (p.Pro82=)	NA	not provided	46605	Likely benign
16:66570906	NM_004614.5(TK2):c.246T>A (p.Pro82=)	NA	not provided	46605	Likely benign
16:66570913	NM_004614.5(TK2):c.239C>T (p.Thr80Met)	NA	not provided	46612	Uncertain significance
16:66570920	NM_004614.5(TK2):c.232G>A (p.Val78Met)	rs1348026323	not provided	46619	Uncertain significance
16:66570933	NM_004614.5(TK2):c.232-13T>C	NA	not provided	46632	Likely benign

Position	Type	Class	Distance	Location with respect to STR
16:66522792-66523095	AluSq2	SINE	-1509	downstream
16:66524002-66524299	AluSx	SINE	-299	downstream
16:66525930-66526244	AluSx1	SINE	1629	upstream

Position	Population	BlockLength (kb)	Distance	Location with respect to STR	No. of SNPs	SNPs in the Haploblock
16:66475050-66485542	SAS	10.493	-49251	downstream	21	rs3891911, rs9673874, rs11645280, rs7191512, rs7198295, rs6416690, rs6416691, rs8063396, rs7196165, rs66490316, rs7203133, rs72788514, rs4783592, rs11647416, rs9926387, rs56004909, rs6499087, rs57983143, rs6499088, rs6499089, rs740420,
16:66479700-66482163	all_pop	2.464	-44601	downstream	3	rs66490316, rs7203133, rs478359,
16:66482673-66486574	all_pop	3.902	-41628	downstream	10	rs35207003, rs11647416, rs9926387, rs56004909, rs6499087, rs57983143, rs6499088, rs6499089, rs7404200, rs993475,
16:66483806-66487727	AFR	3.922	-40495	downstream	16	rs9926387, rs56004909, rs6499087, rs57983143, rs57051521, rs6499088, rs6499089, rs7404200, rs60177591, rs73592653, rs9934752, rs11075634, rs73592656, rs11075635, rs11646672, rs11285634,
16:66483806-66486574	AMR	2.769	-40495	downstream	8	rs9926387, rs56004909, rs6499087, rs57983143, rs6499088, rs6499089, rs7404200, rs993475,
16:66486690-66486925	SAS	0.236	-37611	downstream	2	rs137997454, rs1107563,
16:66486925-66487863	all_pop	0.939	-37376	downstream	4	rs11075634, rs11075635, rs11646672, rs11147385,
16:66486925-66487863	AMR	0.939	-37376	downstream	4	rs11075634, rs11075635, rs11646672, rs11147385,
16:66486925-66486988	EAS	0.064	-37376	downstream	2	rs11075634, rs1107563,
16:66486925-66487863	EUR	0.939	-37376	downstream	4	rs11075634, rs11075635, rs11646672, rs11147385,
16:66487206-66487863	EAS	0.658	-37095	downstream	2	rs11646672, rs11147385,
16:66487206-66487863	SAS	0.658	-37095	downstream	2	rs11646672, rs11147385,
16:66489591-66490594	AFR	1.004	-34710	downstream	3	rs35075494, rs55976076, rs478359,
16:66489745-66503051	all_pop	13.307	-34556	downstream	23	rs55976076, rs4783595, rs74569642, rs4783596, rs7188506, rs60557819, rs4783597, rs11644279, rs10431922, rs4783598, rs4783599, rs74356135, rs79997920, rs7204183, rs2344998, rs4783601, rs4783602, rs1118034, rs7498826, rs11639725, rs1820673, rs12445285, rs100805,
16:66489745-66490594	AMR	0.85	-34556	downstream	2	rs55976076, rs478359,
16:66489745-66506689	EAS	16.945	-34556	downstream	25	rs55976076, rs4783595, rs74569642, rs4783596, rs7188506, rs60557819, rs4783597, rs11644279, rs10431922, rs4783598, rs4783599, rs79997920, rs7204183, rs2344998, rs4783601, rs4783602, rs1118034, rs7498826, rs11639725, rs1820673, rs12445285, rs1008053, rs71376799, rs1549610, rs804771,
16:66489745-66490594	EUR	0.85	-34556	downstream	2	rs55976076, rs478359,
16:66489745-66490693	SAS	0.949	-34556	downstream	4	rs55976076, rs4783595, rs61302687, rs478359,
16:66490642-66507110	AMR	16.469	-33659	downstream	27	rs74569642, rs4783596, rs7188506, rs60557819, rs4783597, rs11644279, rs10431922, rs4783598, rs4783599, rs74356135, rs79997920, rs7204183, rs2344998, rs4783601, rs4783602, rs1118034, rs7498826, rs11639725, rs1820673, rs12445285, rs1008053, rs79938539, rs71376799, rs1549610, rs8047713, rs67504868, rs5846427,
16:66490916-66503380	AFR	12.465	-33385	downstream	24	rs7188506, rs60557819, rs4783597, rs74026538, rs11644279, rs10431922, rs4783598, rs4783599, rs9925162, rs79997920, rs28695552, rs7204183, rs2344998, rs4783601, rs4783602, rs9939011, rs9939538, rs7498826, rs11639725, rs113748961, rs1820673, rs73594700, rs1008053, rs7359660,
16:66490916-66507110	EUR	16.195	-33385	downstream	27	rs7188506, rs151322196, rs60557819, rs4783597, rs11644279, rs10431922, rs4783598, rs4783599, rs74356135, rs79997920, rs7204183, rs2344998, rs4783601, rs4783602, rs1118034, rs7498826, rs11639725, rs118190562, rs1820673, rs12445285, rs1008053, rs79938539, rs71376799, rs1549610, rs8047713, rs67504868, rs5846427,
16:66491487-66503778	SAS	12.292	-32814	downstream	18	rs59044015, rs57111236, rs60557819, rs4783597, rs72788584, rs11644279, rs10431922, rs4783599, rs7204183, rs2344998, rs4783601, rs4783602, rs1118034, rs7498826, rs11639725, rs1820673, rs12445285, rs7278859,
16:66505338-66507624	AFR	2.287	-18963	downstream	7	rs1549610, rs8047713, rs67504868, rs58464270, rs73596605, rs376559374, rs20220641,
16:66505338-66507076	all_pop	1.739	-18963	downstream	3	rs1549610, rs8047713, rs6750486,
16:66505338-66507454	SAS	2.117	-18963	downstream	5	rs1549610, rs72788594, rs8047713, rs67504868, rs3520597,
16:66507110-66507454	all_pop	0.345	-17191	downstream	2	rs58464270, rs3520597,
16:66507110-66566508	EAS	59.399	-17191	downstream	78	rs58464270, rs543784605, rs8056099, rs11075636, rs57842924, rs94163, rs3743709, rs37166, rs40191, rs1346480, rs16956571, rs75285386, rs142363714, rs56838224, rs16956575, rs4783606, rs75278341, rs78391540, rs8049640, rs61097919, rs79532206, rs8050075, rs28493009, rs58468753, rs80255662, rs16956585, rs79838108, rs149558399, rs139267128, rs552634501, rs150954025, rs145436750, rs1428106, rs74248465, rs146263945, rs60619565, rs57126349, rs377250656, rs148230474, rs142238005, rs74451221, rs3743711, rs3743712, rs880530, rs16956600, rs16956603, rs16956605, rs2241618, rs2241619, rs2241620, rs60667136, rs551037268, rs61258586, rs16956609, rs76005605, rs117304331, rs75641132, rs115719714, rs7201353, rs7201934, rs41377345, rs3826160, rs56886347, rs13334391, rs74248468, rs74927082, rs10492904, rs28454745, rs75209565, rs37176, rs755716, rs755717, rs2288399, rs559927224, rs12102747, rs37177, rs117862029, rs20040540,
16:66510012-66562271	AMR	52.26	-14289	downstream	71	rs543784605, rs8056099, rs144584072, rs11075636, rs57842924, rs94163, rs3743709, rs37166, rs40191, rs1346480, rs16956571, rs75285386, rs142363714, rs16956575, rs141958618, rs4783606, rs75278341, rs78391540, rs8049640, rs61097919, rs79532206, rs8050075, rs28493009, rs58468753, rs80255662, rs16956585, rs79838108, rs149558399, rs139267128, rs552634501, rs150954025, rs145436750, rs1428106, rs74248465, rs146263945, rs60619565, rs57126349, rs377250656, rs148230474, rs142238005, rs74451221, rs3743711, rs3743712, rs880530, rs16956600, rs16956603, rs16956605, rs2241618, rs2241619, rs2241620, rs60667136, rs551037268, rs61258586, rs16956609, rs76005605, rs117304331, rs75641132, rs115719714, rs7201353, rs7201934, rs41377345, rs3826160, rs56886347, rs13334391, rs74248468, rs74927082, rs10492904, rs28454745, rs75209565, rs37176, rs75571,
16:66510012-66565492	EUR	55.481	-14289	downstream	71	rs543784605, rs8056099, rs144584072, rs11075636, rs57842924, rs94163, rs3743709, rs37166, rs40191, rs1346480, rs16956571, rs75285386, rs62057866, rs7195309, rs16956575, rs75278341, rs78391540, rs8049640, rs61097919, rs79532206, rs8050075, rs28493009, rs58468753, rs80255662, rs16956585, rs79838108, rs76107343, rs149558399, rs139267128, rs552634501, rs150954025, rs145436750, rs1428106, rs74248465, rs146263945, rs60619565, rs57126349, rs148230474, rs142238005, rs74451221, rs3743711, rs3743712, rs880530, rs16956600, rs16956603, rs16956605, rs2241618, rs2241619, rs2241620, rs60667136, rs551037268, rs61258586, rs16956609, rs75641132, rs115719714, rs7201353, rs7201934, rs41377345, rs3826160, rs56886347, rs12445633, rs13334391, rs74248468, rs74927082, rs10492904, rs28454745, rs75209565, rs37176, rs755716, rs755717, rs228839,
16:66510012-66565492	SAS	55.481	-14289	downstream	68	rs543784605, rs8056099, rs11075636, rs57842924, rs94163, rs37166, rs40191, rs1346480, rs16956571, rs146225280, rs75285386, rs16956575, rs75278341, rs78391540, rs8049640, rs61097919, rs79532206, rs8050075, rs28493009, rs80255662, rs16956585, rs79838108, rs149558399, rs139267128, rs552634501, rs150954025, rs145436750, rs1428106, rs74248465, rs146263945, rs60619565, rs57126349, rs142238005, rs74451221, rs3743711, rs3743712, rs880530, rs16956600, rs189421116, rs16956603, rs16956605, rs2241618, rs2241619, rs2241620, rs60667136, rs551037268, rs61258586, rs16956609, rs75641132, rs115719714, rs7201353, rs140925304, rs7201934, rs41377345, rs72790403, rs3826160, rs56886347, rs13334391, rs74248468, rs74927082, rs10492904, rs28454745, rs142378477, rs75209565, rs37176, rs755716, rs755717, rs228839,
16:66510024-66512809	all_pop	2.786	-14277	downstream	8	rs13336651, rs8056099, rs12103256, rs11075636, rs13339657, rs150359688, rs57842924, rs74934,
16:66510153-66515120	AFR	4.968	-14148	downstream	11	rs8056099, rs12103256, rs11075636, rs13339657, rs150359688, rs57842924, rs749345, rs94163, rs73596609, rs3743709, rs3716,
16:66512824-66563528	all_pop	50.705	-11477	downstream	93	rs94163, rs3743709, rs37166, rs8044130, rs40191, rs1346480, rs16956571, rs9925352, rs75285386, rs9928926, rs8047138, rs7195309, rs7194560, rs16956575, rs536584609, rs75278341, rs78391540, rs8049640, rs61097919, rs79532206, rs8050075, rs28459470, rs28493009, rs115852696, rs9928279, rs58468753, rs80255662, rs16956585, rs8047354, rs8047697, rs8048785, rs79838108, rs8049708, rs9924134, rs149558399, rs144255352, rs139267128, rs552634501, rs150954025, rs145436750, rs1428105, rs1428106, rs74248465, rs146263945, rs60619565, rs57126349, rs148230474, rs142238005, rs74451221, rs3743711, rs3743712, rs880530, rs16956600, rs16956603, rs16956605, rs2241618, rs2241619, rs2241620, rs9924955, rs60667136, rs551037268, rs61258586, rs16956609, rs78538877, rs75641132, rs115719714, rs7201353, rs7201934, rs8044223, rs13339200, rs11859474, rs41377345, rs3826160, rs114157894, rs56886347, rs78452648, rs13334391, rs74248468, rs74927082, rs79341317, rs10492904, rs28667656, rs28454745, rs9924301, rs9924426, rs75209565, rs37176, rs755716, rs755717, rs9930226, rs9930576, rs9932597, rs719142,
16:66515252-66565056	AFR	49.805	-9049	downstream	97	rs8044130, rs40191, rs1346480, rs16956571, rs9925352, rs75285386, rs9928926, rs8047138, rs7195309, rs7194560, rs16956575, rs536584609, rs75278341, rs78391540, rs562198633, rs8049640, rs79532206, rs8050075, rs28459470, rs28493009, rs115852696, rs9928279, rs58468753, rs57581298, rs80255662, rs16956585, rs8047354, rs8047697, rs8048785, rs79838108, rs8049708, rs9924134, rs149558399, rs144255352, rs139267128, rs552634501, rs150954025, rs1428105, rs56294420, rs1428106, rs74248465, rs146263945, rs60619565, rs57126349, rs377250656, rs148230474, rs142238005, rs74451221, rs3743711, rs74372298, rs3743712, rs880530, rs16956600, rs16956603, rs16956605, rs2241618, rs2241619, rs2241620, rs111407711, rs9924955, rs60667136, rs551037268, rs16956609, rs78538877, rs115719714, rs7201353, rs7201934, rs8044223, rs13339200, rs11859474, rs41377345, rs3826160, rs114157894, rs56886347, rs78452648, rs13334391, rs74248468, rs74927082, rs79341317, rs13338614, rs116042247, rs10492904, rs28667656, rs28454745, rs9924301, rs9924426, rs75209565, rs37176, rs755716, rs755717, rs73596617, rs9930226, rs9930576, rs9932597, rs7191420, rs116008635, rs7800555,
16:66562300-66566681	AMR	4.382	37999	upstream	9	rs755717, rs2288399, rs559927224, rs12102747, rs37177, rs117862029, rs200405408, rs114755265, rs7964742,
16:66566141-66566681	AFR	0.541	41840	upstream	6	rs12102747, rs37177, rs117862029, rs200405408, rs114755265, rs7964742,
16:66566141-66566681	all_pop	0.541	41840	upstream	6	rs12102747, rs37177, rs117862029, rs200405408, rs114755265, rs7964742,
16:66566141-66566681	EUR	0.541	41840	upstream	6	rs12102747, rs37177, rs117862029, rs200405408, rs114755265, rs7964742,
16:66566141-66566681	SAS	0.541	41840	upstream	6	rs12102747, rs37177, rs117862029, rs200405408, rs114755265, rs7964742,
16:66566567-66566681	EAS	0.115	42266	upstream	2	rs114755265, rs7964742,
16:66567493-66567650	AFR	0.158	43192	upstream	3	rs59334737, rs60886724, rs2862656,
16:66567493-66567650	all_pop	0.158	43192	upstream	3	rs59334737, rs60886724, rs2862656,
16:66567493-66567650	AMR	0.158	43192	upstream	3	rs59334737, rs60886724, rs2862656,
16:66567493-66567650	EAS	0.158	43192	upstream	3	rs59334737, rs60886724, rs2862656,
16:66567493-66570022	EUR	2.53	43192	upstream	9	rs59334737, rs60886724, rs28626568, rs34946221, rs12447515, rs79998838, rs77088741, rs3826161, rs478362,
16:66567493-66567650	SAS	0.158	43192	upstream	3	rs59334737, rs60886724, rs2862656,
16:66568148-66570022	AFR	1.875	43847	upstream	4	rs12447515, rs79998838, rs77088741, rs478362,
16:66568148-66570022	all_pop	1.875	43847	upstream	5	rs12447515, rs79998838, rs77088741, rs3826161, rs478362,
16:66568148-66570022	AMR	1.875	43847	upstream	5	rs12447515, rs79998838, rs77088741, rs3826161, rs478362,
16:66568148-66570022	EAS	1.875	43847	upstream	5	rs12447515, rs79998838, rs77088741, rs3826161, rs478362,
16:66568148-66570022	SAS	1.875	43847	upstream	5	rs12447515, rs79998838, rs77088741, rs3826161, rs478362,
16:66570105-66572828	all_pop	2.724	45804	upstream	3	rs572049710, rs28171, rs66208,
16:66571421-66572828	AMR	1.408	47120	upstream	2	rs28171, rs66208,
16:66571421-66572828	EUR	1.408	47120	upstream	2	rs28171, rs66208,
16:66573695-66574076	AFR	0.382	49394	upstream	2	rs77453556, rs20030541,
16:66573695-66574076	all_pop	0.382	49394	upstream	2	rs77453556, rs20030541,
16:66573695-66574076	AMR	0.382	49394	upstream	2	rs77453556, rs20030541,
16:66573695-66574076	EAS	0.382	49394	upstream	2	rs77453556, rs20030541,
16:66573695-66574076	EUR	0.382	49394	upstream	2	rs77453556, rs20030541,

Conservation score was not calculated