Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC6A20_chr3_45750449_45801536	45785613	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02135.hp2 HG03491.hp2 others(2): Show HG02056.hp2 HG02135.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0002c0002t0042 a0001c0001t0001 a0001c0001t0008 a0002c0002t0042	a0001c0001t0001g0022 a0001c0001t0001g0355 a0001c0001t0008g0356 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0355 a0001c0001t0008g0356 a0002c0002t0042g0059	5	54	0.0926	22	c.122 others(39): Show c.122-3412_122-3391dupGAGAGAGAGAGAGAGAGAGAGA	SLC6A20	ENSG00000163817.17	transcript	ENST00000358525.9	protein_coding	1/10			chr3	TogoVar
SLC6A4_chr17_30189319_30240697	30226881	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG03195.hp2 others(1): Show HG02451.hp1 HG02559.hp1 HG03195.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0021 a0001c0001t0001 a0001c0001t0012 a0001c0001t0021	a0001c0001t0001g0014 a0001c0001t0012g0111 a0001c0001t0021g0177 a0001c0001t0001g0014 a0001c0001t0012g0111 a0001c0001t0021g0177	4	283	0.0141	22	c.-22 others(41): Show c.-220-3967_-220-3966insCTTTCTTTTTCTTTTTTTTTTT	SLC6A4	ENSG00000108576.10	transcript	ENST00000650711.1	protein_coding	1/14			chr17	TogoVar
SLC6A6_chr3_14397606_14494349	14433290	G G	GCAAAGGG others(15): Show GCAAAGGGTGACCCTGTTCCTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	374	0.0027	22	c.-11 others(41): Show c.-11-10328_-11-10307dupGGTGACCCTGTTCCTTTCAAAG	SLC6A6	ENSG00000131389.18	transcript	ENST00000622186.5	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC7A11_chr4_138159097_138247349	138170205	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0032 a0001c0001t0061g0032	1	203	0.0049	22	c.17 others(33): Show c.1729_*1750dupTATATATATATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	12/12	1750		chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138225138	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0335 a0001c0001t0023g0335	1	42	0.0238	22	c.521 others(39): Show c.521-1836_521-1815dupTATATATATATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	3/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237700	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0220 a0001c0002t0011g0220	1	316	0.0032	22	c.278 others(39): Show c.278-1271_278-1250dupATATATATATATATATATATAT	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA19007.hp2 HG03669.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0235 a0001c0002t0002g0203 a0001c0001t0004g0235 a0001c0002t0002g0203	2	175	0.0114	22	c.278 others(39): Show c.278-1287_278-1286insAATATATATATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19000.hp1 HG03516.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0108 a0001c0001t0014 a0001c0002t0108	a0001c0001t0014g0065 a0001c0002t0108g0189 a0001c0001t0014g0065 a0001c0002t0108g0189	2	175	0.0114	22	c.278 others(39): Show c.278-1287_278-1286insAAAAAATATATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	174	0.0057	22	c.278 others(39): Show c.278-1287_278-1286insAAAAAAAATATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A14_chr3_170454548_170591075	170471090	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA21309.hp1 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0007 a0001c0001t0007 a0001c0002t0007	a0001c0001t0007g0048 a0001c0002t0007g0263 a0001c0001t0007g0048 a0001c0002t0007g0263	2	138	0.0145	22	c.199 others(41): Show c.1994-3735_1994-3714dupACACACACACACACACACACAC	SLC7A14	ENSG00000013293.6	transcript	ENST00000231706.6	protein_coding	7/7			chr3	TogoVar
SLC7A1_chr13_29504414_29600688	29555357	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18950.hp2 NA18999.hp2 others(1): Show HG00558.hp1 NA18950.hp2 NA18999.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0279 others(1): Show a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0279 a0001c0001t0001g0293	4	33	0.1212	22	c.-11 others(41): Show c.-114-1519_-114-1498dupTTTTTTTTTTTTTTTTTTTTTT	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558086	T T	TAGGGGGG others(15): Show TAGGGGGGAGTGAATCTGAACGA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0171 a0001c0002t0009g0171	1	325	0.0031	22	c.-11 others(41): Show c.-114-4227_-114-4226insTCGTTCAGATTCACTCCCCCCT	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A5_chr16_87825023_87874507	87863986	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG01106.hp2 others(14): Show HG00140.hp1 HG01081.hp1 HG01106.hp2 HG01433.hp1 HG02129.hp2 HG02258.hp2 HG02280.hp2 HG02698.hp1 HG02717.hp2 HG02965.hp2 HG02976.hp2 HG03209.hp1 HG03239.hp2 NA18940.hp1 NA18944.hp1 NA18970.hp1 NA18998.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0014 a0001c0001 a0001c0002 a0003c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0020 a0001c0001t0022 a0001c0001t0025 a0001c0001t0050 a0001c0001t0052 a0001c0002t0001 a0003c0014t0035	a0001c0001t0001g0153 a0001c0001t0002g0005 a0001c0001t0002g0278 others(14): Show a0001c0001t0001g0153 a0001c0001t0002g0005 a0001c0001t0002g0278 a0001c0001t0003g0357 a0001c0001t0004g0079 a0001c0001t0005g0092 a0001c0001t0005g0156 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0020g0226 a0001c0001t0022g0169 a0001c0001t0025g0350 a0001c0001t0050g0060 a0001c0001t0052g0089 a0001c0002t0001g0016 a0003c0014t0035g0008	17	28	0.6071	22	c.538 others(39): Show c.538+4877_538+4898dupATATATATATATATATATATAT	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding	1/9			chr16	TogoVar
SLC7A5_chr16_87825023_87874507	87873028	T T	TTCTTCTT others(15): Show TTCTTCTTTTCTTTCTGACAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 NA19240.hp1 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0027 a0001c0002t0006 a0001c0002t0027	a0001c0002t0006g0028 a0001c0002t0027g0019 a0001c0002t0006g0028 a0001c0002t0027g0019	2	308	0.0065	22	c.-36 others(33): Show c.-3607_-3606insTCTTGTCAGAAAGAAAAGAAGA	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		3522		chr16	TogoVar
SLC7A6_chr16_68259526_68306819	68291762	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19081.hp2 NA18994.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0065 a0001c0001t0003g0037 a0001c0001t0003g0065	2	58	0.0345	22	c.102 others(39): Show c.1022+118_1022+139dupGTGTGTGTGTGTGTGTGTGTGT	SLC7A6	ENSG00000103064.15	transcript	ENST00000219343.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC7A7_chr14_22768222_22820435	22795385	G G	GCTTGCTT others(15): Show GCTTGCTTGCTTGCTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	377	0.0027	22	c.500 others(41): Show c.500-15335_500-15334insAAAGAAAAAGCAAGCAAGCAAG	SLC7A7	ENSG00000155465.21	transcript	ENST00000674313.1	protein_coding	2/9			chr14	TogoVar
SLC7A7_chr14_22768222_22820435	22795385	G G	GCTTGCTT others(15): Show GCTTGCTTGCTTTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	377	0.0027	22	c.500 others(41): Show c.500-15335_500-15334insAAAGAAAGAAAAAGCAAGCAAG	SLC7A7	ENSG00000155465.21	transcript	ENST00000674313.1	protein_coding	2/9			chr14	TogoVar
SLC7A7_chr14_22768222_22820435	22812773	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00438.hp2 others(18): Show HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00738.hp2 HG01192.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG02165.hp2 HG02735.hp2 HG03654.hp1 HG03669.hp2 HG04115.hp2 NA18954.hp2 NA18977.hp1 NA18978.hp1 NA19005.hp2 NA19079.hp1 NA19090.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0005 others(2): Show a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0002c0018	a0001c0002t0002 a0001c0004t0002 a0001c0005t0002 others(2): Show a0001c0002t0002 a0001c0004t0002 a0001c0005t0002 a0001c0009t0001 a0002c0018t0001	a0001c0002t0002g0304 a0001c0002t0002g0307 a0001c0002t0002g0312 others(18): Show a0001c0002t0002g0304 a0001c0002t0002g0307 a0001c0002t0002g0312 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0004t0002g0305 a0001c0004t0002g0306 a0001c0004t0002g0308 a0001c0004t0002g0309 a0001c0004t0002g0311 a0001c0005t0002g0255 a0001c0005t0002g0310 a0001c0005t0002g0313 a0001c0009t0001g0108 a0001c0009t0001g0202 a0001c0009t0001g0203 a0002c0018t0001g0206	21	133	0.1579	22	c.499 others(37): Show c.499+126_499+127insTATATATATATATATATATATA	SLC7A7	ENSG00000155465.21	transcript	ENST00000674313.1	protein_coding	2/9			chr14	TogoVar
SLC7A9_chr19_32825511_32874767	32844857	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19003.hp2 HG02165.hp1 NA19003.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0003t0002g0036 a0002c0003t0002g0037	2	79	0.0253	22	c.978 others(37): Show c.978-928_978-907dupTTTTTTTTTTTTTTTTTTTTTT	SLC7A9	ENSG00000021488.13	transcript	ENST00000023064.9	protein_coding	9/12			chr19	TogoVar
SLC8A1_chr2_40092270_40457090	40107279	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp2 HG03225.hp2 HG02965.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0072 a0001c0001t0015g0157 a0001c0001t0015g0072 a0001c0001t0015g0157	2	21	0.0952	22	c.79 others(33): Show c.7973_*7974insTTTTTTTTTTTTTTTTTTTTTT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	11/11	7973		chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40277794	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0047 a0001c0001t0107g0047	1	78	0.0128	22	c.180 others(43): Show c.1809-99323_1809-99302dupTATATATATATATATATATATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40287582	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01106.hp2 HG02129.hp2 others(11): Show HG00642.hp2 HG01106.hp2 HG02129.hp2 HG02155.hp2 HG02280.hp1 HG02886.hp1 HG03225.hp2 HG03831.hp1 NA18939.hp1 NA18955.hp1 NA18995.hp1 NA19000.hp2 NA19043.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0016 others(10): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0016 a0001c0001t0029 a0001c0001t0033 a0001c0001t0058 a0001c0001t0065 a0001c0001t0112 a0001c0001t0139 a0001c0001t0158 a0001c0001t0162 a0001c0001t0167 a0001c0001t0191	a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0015g0157 others(11): Show a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0015g0157 a0001c0001t0016g0152 a0001c0001t0029g0057 a0001c0001t0033g0095 a0001c0001t0058g0112 a0001c0001t0065g0063 a0001c0001t0112g0001 a0001c0001t0139g0216 a0001c0001t0158g0115 a0001c0001t0162g0208 a0001c0001t0167g0175 a0001c0001t0191g0187	14	51	0.2745	22	c.180 others(45): Show c.1809-109111_1809-109090dupCACACACACACACACACACACA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40288834	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp2 HG03225.hp2 others(2): Show HG02257.hp2 HG02965.hp2 HG03225.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0074 others(1): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0074 a0001c0001t0113	a0001c0001t0004g0158 a0001c0001t0015g0072 a0001c0001t0015g0157 others(2): Show a0001c0001t0004g0158 a0001c0001t0015g0072 a0001c0001t0015g0157 a0001c0001t0074g0151 a0001c0001t0113g0045	5	197	0.0254	22	c.180 others(45): Show c.1809-110342_1809-110341insATATATATATATATATATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40302031	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0160 a0001c0001t0160	a0001c0001t0160g0008 a0001c0001t0160g0008	1	53	0.0189	22	c.180 others(45): Show c.1809-123560_1809-123539dupCACACACACACACACACACACA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40391190	T T	TTACACAC others(15): Show TTACACACACACGTATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0157 a0001c0001t0157	a0001c0001t0157g0200 a0001c0001t0157g0200	1	68	0.0147	22	c.180 others(43): Show c.1808+37282_1808+37283insTATATATATACGTGTGTGTGTA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40417870	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18959.hp2 HG02109.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0178 a0001c0001t0023 a0001c0001t0178	a0001c0001t0023g0123 a0001c0001t0178g0012 a0001c0001t0023g0123 a0001c0001t0178g0012	2	103	0.0194	22	c.180 others(43): Show c.1808+10581_1808+10602dupGTGTGTGTGTGTGTGTGTGTGT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A3_chr14_70039215_70193951	70192046	T T	TAATAATA others(15): Show TAATAATAATAATAATAATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	288	0.0035	22	c.-37 others(33): Show c.-3731_-3730insTATTATTATTATTATTATTATT	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding		3096		chr14	TogoVar
SLC8B1_chr12_113293771_113340109	113317827	A A	ATTGTGTA others(15): Show ATTGTGTATGTGAGTGCATGAAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02809.hp1 HG02886.hp1 others(2): Show HG02717.hp1 HG02809.hp1 HG02886.hp1 HG03195.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0006 a0001c0001t0004 a0001c0004t0006	a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0004t0006g0019 others(1): Show a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0004t0006g0019 a0001c0004t0006g0066	5	282	0.0177	22	c.803 others(37): Show c.803-848_803-827dupATTCATGCACTCACATACACAA	SLC8B1	ENSG00000089060.12	transcript	ENST00000680972.1	protein_coding	8/15			chr12	TogoVar
SLC9A2_chr2_102614553_102716355	102646764	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0341 a0001c0001t0024g0341	1	341	0.0029	22	c.290 others(41): Show c.290-10800_290-10799insATATATATATATATATATATAT	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	1/11			chr2	TogoVar
SLC9A2_chr2_102614553_102716355	102695781	T T	TATATATA others(15): Show TATATATATTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02615.hp1 others(2): Show HG01884.hp2 HG02055.hp2 HG02615.hp1 HG03098.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0018	a0001c0001t0002g0188 a0001c0001t0003g0342 a0001c0001t0004g0284 others(2): Show a0001c0001t0002g0188 a0001c0001t0003g0342 a0001c0001t0004g0284 a0001c0001t0015g0288 a0001c0001t0018g0265	5	337	0.0148	22	c.158 others(39): Show c.1586+687_1586+688insATAATATATATTATATATATAT	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A3_chr5_465456_529449	507166	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02165.hp1 HG03471.hp1 others(3): Show HG01517.hp2 HG02165.hp1 HG03471.hp1 HG03710.hp2 NA18979.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0009 others(1): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002	a0001c0001t0024 a0001c0003t0009 a0001c0009t0009 others(2): Show a0001c0001t0024 a0001c0003t0009 a0001c0009t0009 a0002c0002t0002 a0002c0002t0003	a0001c0001t0024g0119 a0001c0003t0009g0007 a0001c0009t0009g0081 others(3): Show a0001c0001t0024g0119 a0001c0003t0009g0007 a0001c0009t0009g0081 a0002c0002t0002g0075 a0002c0002t0002g0082 a0002c0002t0003g0183	6	46	0.1304	22	c.212 others(41): Show c.212-15096_212-15095insAAAAAAAAAAAAAAAAAAAAAA	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A5_chr16_67243979_67277191	67260354	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0021	1	113	0.0088	22	c.184 others(39): Show c.1842+410_1842+431dupAAAAAAAAAAAAAAAAAAAAAA	SLC9A5	ENSG00000135740.17	transcript	ENST00000299798.16	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC9A5_chr16_67243979_67277191	67268658	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	77	0.0130	22	c.221 others(41): Show c.2219-2048_2219-2027dupATATATATATATATATATATAT	SLC9A5	ENSG00000135740.17	transcript	ENST00000299798.16	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC9A7_chrX_46594251_46764118	46730670	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG01993.hp1 others(10): Show HG00423.hp1 HG00673.hp1 HG01993.hp1 HG02273.hp1 NA18939.hp2 NA18944.hp1 NA18948.hp1 NA18969.hp1 NA18975.hp1 NA19012.hp1 NA19062.hp1 NA19063.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0031 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0072 a0001c0001t0001g0107 a0001c0001t0004g0058 others(10): Show a0001c0001t0001g0072 a0001c0001t0001g0107 a0001c0001t0004g0058 a0001c0001t0004g0073 a0001c0001t0005g0095 a0001c0001t0005g0097 a0001c0001t0014g0096 a0001c0001t0031g0098 a0001c0002t0002g0217 a0001c0002t0002g0229 a0001c0002t0002g0247 a0001c0003t0002g0094 a0001c0003t0002g0112	13	22	0.5909	22	c.325 others(41): Show c.325+28013_325+28034dupTATATATATATATATATATATA	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	1/16			chrX	TogoVar
SLC9A8_chr20_49807828_49897242	49884227	C C	CACACACG others(15): Show CACACACGACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0142 a0001c0001t0024g0142	1	265	0.0038	22	c.149 others(39): Show c.1491+167_1491+168insGACACACACACACACGACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A8_chr20_49807828_49897242	49884233	C C	CACACACG others(15): Show CACACACGACACACACACACACG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03927.hp2 HG01934.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0280 a0001c0001t0001g0282	2	332	0.0060	22	c.149 others(39): Show c.1491+173_1491+174insGACACACACACACACGACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A8_chr20_49807828_49897242	49884250	C C	CACACACG others(15): Show CACACACGACACACACACACACG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	302	0.0033	22	c.149 others(39): Show c.1491+190_1491+191insGACACACACACACACGACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A9_chr3_143260222_143853468	143606436	C C	CTCTATAT others(15): Show CTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0097 a0001c0005t0012g0097	1	30	0.0333	22	c.756 others(41): Show c.756-27714_756-27713insTATATATATATATATATATAGA	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	6/15			chr3	TogoVar
SLC9A9_chr3_143260222_143853468	143606436	C C	CTCTCTAT others(15): Show CTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	30	0.0333	22	c.756 others(41): Show c.756-27714_756-27713insTATATATATATATATATAGAGA	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	6/15			chr3	TogoVar
SLC9A9_chr3_143260222_143853468	143652810	C C	CACACACA others(15): Show CACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	47	0.0213	22	c.650 others(37): Show c.650-451_650-450insATGTGTGTGTGTGTGTGTGTGT	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	5/15			chr3	TogoVar
SLC9B2_chr4_103017253_103081761	103045690	A A	ACCCCACT others(15): Show ACCCCACTGCCTCTTTCCTTTCT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0019 a0004c0009t0019	a0004c0009t0019g0171 a0004c0009t0019g0171	1	354	0.0028	22	c.890 others(37): Show c.890-716_890-695dupAGAAAGGAAAGAGGCAGTGGGG	SLC9B2	ENSG00000164038.16	transcript	ENST00000394785.9	protein_coding	7/11			chr4	TogoVar
SLC9C1_chr3_112135898_112299216	112271393	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG01071.hp2 others(22): Show HG00639.hp2 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp2 HG01978.hp2 HG02083.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02738.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 NA18747.hp1 NA18943.hp2 NA18973.hp1 NA18986.hp1 NA18994.hp2 NA19066.hp1 NA19079.hp1 NA19081.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0001c0006 a0001c0013 others(3): Show a0001c0002 a0001c0006 a0001c0013 a0001c0017 a0002c0001 a0007c0010	a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 others(5): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0006t0001 a0001c0013t0001 a0001c0017t0001 a0002c0001t0001 a0007c0010t0001	a0001c0002t0001g0061 a0001c0002t0001g0074 a0001c0002t0001g0083 others(21): Show a0001c0002t0001g0061 a0001c0002t0001g0074 a0001c0002t0001g0083 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0106 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0286 a0001c0002t0004g0085 a0001c0002t0005g0088 a0001c0002t0005g0089 a0001c0002t0005g0317 a0001c0006t0001g0114 a0001c0013t0001g0290 a0001c0013t0001g0292 a0001c0017t0001g0312 a0001c0017t0001g0313 a0002c0001t0001g0285 a0002c0001t0001g0291 a0002c0001t0001g0316 a0007c0010t0001g0002 a0007c0010t0001g0058	25	171	0.1462	22	c.614 others(39): Show c.614-1317_614-1316insTATATATATATATATATATATA	SLC9C1	ENSG00000172139.15	transcript	ENST00000305815.10	protein_coding	6/28			chr3	TogoVar
SLC9C1_chr3_112135898_112299216	112271409	A A	ATATATAT others(15): Show ATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18953.hp2 NA18977.hp2 others(1): Show NA18946.hp1 NA18953.hp2 NA18977.hp2 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0144 a0001c0002t0001g0148 a0001c0002t0001g0005 a0001c0002t0001g0144 a0001c0002t0001g0148	4	369	0.0108	22	c.614 others(39): Show c.614-1333_614-1332insGATATATATATATATATATATA	SLC9C1	ENSG00000172139.15	transcript	ENST00000305815.10	protein_coding	6/28			chr3	TogoVar
SLC9C1_chr3_112135898_112299216	112295668	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02965.hp1 HG03239.hp1 others(1): Show HG02040.hp1 HG02965.hp1 HG03239.hp1 NA18939.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0003 a0002c0001 a0003c0003	a0002c0001t0001 a0003c0003t0002 a0002c0001t0001 a0003c0003t0002	a0002c0001t0001g0200 a0002c0001t0001g0218 a0002c0001t0001g0240 others(1): Show a0002c0001t0001g0200 a0002c0001t0001g0218 a0002c0001t0001g0240 a0003c0003t0002g0183	4	27	0.1481	22	c.-16 others(33): Show c.-1664_-1663insTATATATATATATATATATATA	SLC9C1	ENSG00000172139.15	transcript	ENST00000305815.10	protein_coding		1453		chr3	TogoVar
SLC9C2_chr1_173495460_173608072	173550872	A A	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01884.hp2 HG02896.hp1 others(3): Show HG01192.hp1 HG01884.hp2 HG02896.hp1 HG03209.hp2 HG03453.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0027 a0003c0003t0002g0031 a0003c0003t0002g0033 others(3): Show a0003c0003t0002g0027 a0003c0003t0002g0031 a0003c0003t0002g0033 a0003c0003t0002g0037 a0003c0003t0002g0199 a0003c0003t0002g0221	6	83	0.0723	22	c.129 others(41): Show c.1298-2342_1298-2321dupCTCTCTCTCTCTCTCTCTCTCT	SLC9C2	ENSG00000162753.13	transcript	ENST00000367714.4	protein_coding	11/27			chr1	TogoVar
SLCO1A2_chr12_21259600_21339917	21299776	A A	ATATATAT others(15): Show ATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0040 a0003c0010t0040	a0003c0010t0040g0273 a0003c0010t0040g0273	1	308	0.0032	22	c.910 others(37): Show c.910+571_910+572insCACACATATATATATATATATA	SLCO1A2	ENSG00000084453.17	transcript	ENST00000683939.1	protein_coding	8/14			chr12	TogoVar
SLCO1B3_chr12_20805705_20921911	20918434	G G	GTATGTGT others(15): Show GTATGTGTGTGTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02027.hp2 HG02074.hp1 others(12): Show HG01978.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02135.hp1 NA18946.hp1 NA18978.hp1 NA18981.hp2 NA18984.hp2 NA18985.hp1 NA19000.hp1 NA19002.hp2 NA19056.hp1 NA19057.hp1 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0002c0003t0005 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0005 a0002c0003t0009	a0001c0001t0001g0151 a0001c0001t0001g0177 a0002c0003t0001g0073 others(12): Show a0001c0001t0001g0151 a0001c0001t0001g0177 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0082 a0002c0003t0001g0160 a0002c0003t0001g0190 a0002c0003t0001g0199 a0002c0003t0001g0224 a0002c0003t0005g0016 a0002c0003t0005g0017 a0002c0003t0005g0256 a0002c0003t0009g0083 a0002c0003t0009g0115	15	84	0.1786	22	c.21 others(33): Show c.2187_*2188insTATGTGTGTGTATATATATATA	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding		1524		chr12	TogoVar
SLCO1C1_chr12_20690332_20758386	20740783	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA18983.hp2 NA18989.hp1 HG00642.hp2 NA18983.hp2 NA18989.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0012 a0001c0001 a0001c0006 a0003c0012	a0001c0001t0004 a0001c0006t0008 a0003c0012t0001 a0001c0001t0004 a0001c0006t0008 a0003c0012t0001	a0001c0001t0004g0283 a0001c0006t0008g0203 a0003c0012t0001g0131 a0001c0001t0004g0283 a0001c0006t0008g0203 a0003c0012t0001g0131	3	162	0.0185	22	c.173 others(39): Show c.1733+418_1733+419insATATATATATATATATATATAT	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLCO1C1_chr12_20690332_20758386	20740787	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02572.hp1 HG02976.hp2 HG00639.hp2 HG02572.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0078 a0001c0001t0001g0105 a0001c0001t0001g0110	3	8	0.3750	22	c.173 others(39): Show c.1733+429_1733+450dupATATATATATATATATATATAT	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLCO1C1_chr12_20690332_20758386	20740787	T T	TTTTATAT others(15): Show TTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0009 a0001c0020t0009	a0001c0020t0009g0018 a0001c0020t0009g0018	1	6	0.1667	22	c.173 others(39): Show c.1733+420_1733+421insTTATATATATATATATATATAT	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr12	TogoVar

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