Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SLC35F3_chr1_233899676_234329511	234058328	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0147 a0001c0002t0005g0147	1	45	0.0222	21	c.283 others(42): Show c.283+152580_283+152600dupTTTTTTTTTTTTTTTTTTTTT	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234326099	A A	AGGAGGAT others(14): Show AGGAGGATGGAGGATGGAGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0127 a0001c0002t0002g0127	1	113	0.0088	21	c.28 others(32): Show c.2856_*2857insGGAGGATGGAGGATGGAGGAT	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding		1589		chr1	TogoVar
SLC35F4_chr14_57558920_57871092	57586717	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	69	0.0145	21	c.587 others(38): Show c.587+2478_587+2498dupTTTTTTTTTTTTTTTTTTTTT	SLC35F4	ENSG00000151812.15	transcript	ENST00000556826.6	protein_coding	3/7			chr14	TogoVar
SLC35F6_chr2_26759284_26786231	26784448	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 NA19070.hp2 NA19086.hp2 HG02083.hp2 NA19070.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	69	0.0435	21	c.59 others(32): Show c.5937_*5938insTTTTTTTTTTTTTTTTTTTTT	SLC35F6	ENSG00000213699.9	transcript	ENST00000344420.10	protein_coding		3218		chr2	TogoVar
SLC36A1_chr5_151442603_151497379	151468266	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0111 a0001c0001t0017g0111	1	278	0.0036	21	c.723 others(36): Show c.723+342_723+343insAAATATATATATATATATATA	SLC36A1	ENSG00000123643.14	transcript	ENST00000243389.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC36A1_chr5_151442603_151497379	151474159	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03130.hp1 HG02145.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0055 a0001c0001t0019g0057 a0001c0001t0019g0055 a0001c0001t0019g0057	2	263	0.0076	21	c.822 others(36): Show c.822+408_822+409insAAAAAAAAAAAAAAAAAAAAA	SLC36A1	ENSG00000123643.14	transcript	ENST00000243389.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC37A1_chr21_42508852_42586426	42530654	A A	ACACACAC others(14): Show ACACACACACACCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	320	0.0031	21	c.139 others(38): Show c.139-4043_139-4042insACACACACACCCCCCCCCCCC	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC37A3_chr7_140328752_140403530	140386449	C C	CAATAATA others(14): Show CAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0093 a0001c0003t0002g0093	1	65	0.0154	21	c.-70 others(38): Show c.-70-3874_-70-3854dupATTATTATTATTATTATTATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC38A10_chr17_81239811_81300307	81245402	T T	TTATACTG others(14): Show TTATACTGTCACTCACACTTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0009 a0002c0001t0009	a0002c0001t0009g0124 a0002c0001t0009g0124	1	212	0.0047	21	c.13 others(30): Show c.133_*153dupCCAAGTGTGAGTGACAGTATA	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	16/16	153		chr17	TogoVar
SLC38A9_chr5_55620848_55717324	55677926	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 NA19000.hp2 HG00140.hp2 HG00280.hp1 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0208 a0002c0002t0001g0265 a0002c0002t0001g0294 a0002c0002t0001g0208 a0002c0002t0001g0265 a0002c0002t0001g0294	3	50	0.0600	21	c.114 others(38): Show c.114-5232_114-5231insCACACACACACACACACACAC	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC39A11_chr17_72640949_73097688	72759111	C C	CAATAATA others(14): Show CAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18747.hp2 NA18999.hp1 HG03942.hp1 NA18747.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0156 a0001c0001t0001g0179 a0001c0001t0016g0086 a0001c0001t0001g0156 a0001c0001t0001g0179 a0001c0001t0016g0086	3	132	0.0227	21	c.602 others(40): Show c.602-22393_602-22392insATTATTATTATTATTATTATT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	6/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	72759129	T T	TAATAATA others(14): Show TAATAATAATAATAATAATAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0075 a0001c0001t0011g0075	1	168	0.0060	21	c.602 others(40): Show c.602-22411_602-22410insTTTATTATTATTATTATTATT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	6/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	72932292	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02451.hp1 others(4): Show HG01109.hp1 HG02145.hp2 HG02451.hp1 HG02922.hp1 HG02922.hp2 HG03139.hp1 HG03486.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0019 a0002c0002 others(3): Show a0001c0001 a0001c0019 a0002c0002 a0002c0004 a0002c0014 a0006c0013	a0001c0001t0001 a0001c0001t0017 a0001c0019t0003 others(4): Show a0001c0001t0001 a0001c0001t0017 a0001c0019t0003 a0002c0002t0005 a0002c0004t0001 a0002c0014t0001 a0006c0013t0001	a0001c0001t0001g0085 a0001c0001t0017g0078 a0001c0019t0003g0002 others(4): Show a0001c0001t0001g0085 a0001c0001t0017g0078 a0001c0019t0003g0002 a0002c0002t0005g0127 a0002c0004t0001g0060 a0002c0014t0001g0003 a0006c0013t0001g0130	7	152	0.0461	21	c.430 others(40): Show c.430+15459_430+15460insTAATAATAATAATAATAATAA	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	5/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	72949144	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA20129.hp1 NA18982.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0103 a0001c0001t0006g0087 a0001c0001t0002g0103 a0001c0001t0006g0087	2	15	0.1333	21	c.307 others(38): Show c.307-1290_307-1270dupAAAAAAAAAAAAAAAAAAAAA	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73047990	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	97	0.0103	21	c.148 others(40): Show c.148-16277_148-16276insATATATTTTTTTTTTTTTTTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	3/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73047990	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0058 a0001c0001t0004g0058	1	97	0.0103	21	c.148 others(40): Show c.148-16277_148-16276insATATATATTTTTTTTTTTTTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	3/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73062461	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp2 HG02896.hp2 others(1): Show HG02622.hp2 HG02895.hp2 HG02896.hp2 NA19030.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0002c0004 a0007c0024 a0002c0002 a0002c0004 a0007c0024	a0002c0002t0011 a0002c0004t0001 a0007c0024t0007 a0002c0002t0011 a0002c0004t0001 a0007c0024t0007	a0002c0002t0011g0027 a0002c0004t0001g0091 a0002c0004t0001g0092 others(1): Show a0002c0002t0011g0027 a0002c0004t0001g0091 a0002c0004t0001g0092 a0007c0024t0007g0093	4	166	0.0241	21	c.147 others(40): Show c.147+22346_147+22347insTTTTTTTTTTTTTTTTTTTTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	3/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73062475	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02735.hp1 NA18747.hp1 others(1): Show HG02109.hp1 HG02735.hp1 NA18747.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0001c0001t0012 a0003c0003t0001 others(1): Show a0001c0001t0004 a0001c0001t0012 a0003c0003t0001 a0003c0003t0006	a0001c0001t0004g0062 a0001c0001t0012g0138 a0003c0003t0001g0055 others(1): Show a0001c0001t0004g0062 a0001c0001t0012g0138 a0003c0003t0001g0055 a0003c0003t0006g0006	4	43	0.0930	21	c.147 others(40): Show c.147+22332_147+22333insGTTTTTTTTTTTTTTTTTTTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	3/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73062475	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAACAAAAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	40	0.0250	21	c.147 others(40): Show c.147+22332_147+22333insGTTTTGTTTTTTTTTTTTTTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	3/9			chr17	TogoVar
SLC39A12_chr10_17946918_18048285	18036790	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	205	0.0049	21	c.194 others(40): Show c.1948-5914_1948-5913insTTTTTTTTTTTTTTTTTTTTT	SLC39A12	ENSG00000148482.12	transcript	ENST00000377369.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLC39A12_chr10_17946918_18048285	18036792	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	143	0.0070	21	c.194 others(40): Show c.1948-5912_1948-5911insTTTTTTTTTTTTTTTTTTTTT	SLC39A12	ENSG00000148482.12	transcript	ENST00000377369.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLC39A12_chr10_17946918_18048285	18036794	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18955.hp1 NA19064.hp2 HG02886.hp2 NA18955.hp1 NA19064.hp2	a0002 a0013 a0002 a0013	a0002c0003 a0002c0004 a0013c0028 a0002c0003 a0002c0004 a0013c0028	a0002c0003t0003 a0002c0004t0003 a0013c0028t0003 a0002c0003t0003 a0002c0004t0003 a0013c0028t0003	a0002c0003t0003g0120 a0002c0004t0003g0017 a0013c0028t0003g0348 a0002c0003t0003g0120 a0002c0004t0003g0017 a0013c0028t0003g0348	3	39	0.0769	21	c.194 others(40): Show c.1948-5900_1948-5899insTTTTTTTTTTTTTTTTTTTTT	SLC39A12	ENSG00000148482.12	transcript	ENST00000377369.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLC39A14_chr8_22362278_22427736	22391233	G G	GTTCCTTG others(14): Show GTTCCTTGTTGAATTGTTTGCT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0278 a0001c0004t0002g0278	1	322	0.0031	21	c.-15 others(40): Show c.-15-13458_-15-13438dupTTGTTGAATTGTTTGCTTTCC	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC39A6_chr18_36103531_36134340	36106261	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 NA19012.hp1 NA19068.hp1 HG00544.hp1 NA19012.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0008 a0001c0001t0001g0036 a0001c0001t0005g0022 a0001c0001t0001g0008 a0001c0001t0001g0036 a0001c0001t0005g0022	3	114	0.0263	21	c.33 others(32): Show c.3331_*3332insAAAAAAAAAAAAAAAAAAAAA	SLC39A6	ENSG00000141424.13	transcript	ENST00000269187.10	protein_coding		2269		chr18	TogoVar
SLC41A2_chr12_104796801_104963290	104878299	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0036 a0001c0002t0020g0036	1	72	0.0139	21	c.102 others(40): Show c.1027+7993_1027+7994insTATATATATATATATATATAT	SLC41A2	ENSG00000136052.10	transcript	ENST00000258538.8	protein_coding	6/10			chr12	TogoVar
SLC43A2_chr17_1564268_1633834	1600152	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	232	0.0043	21	c.502 others(38): Show c.502-6874_502-6873insATATATATATATATATATATA	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar
SLC43A3_chr11_57401954_57432121	57403470	A A	AGAAGAAG others(14): Show AGAAGAAGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02280.hp1 HG02976.hp1 others(1): Show HG02132.hp1 HG02280.hp1 HG02976.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0002c0002t0001	a0001c0001t0002g0167 a0001c0001t0003g0002 a0001c0001t0008g0174 others(1): Show a0001c0001t0002g0167 a0001c0001t0003g0002 a0001c0001t0008g0174 a0002c0002t0001g0020	4	171	0.0234	21	c.43 others(32): Show c.4321_*4322insCTCTTCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3483		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403565	A A	AGAAGAAG others(14): Show AGAAGAAGAGGAAGAGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	302	0.0033	21	c.42 others(32): Show c.4226_*4227insCTCTTCCTCTTCCTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3388		chr11	TogoVar
SLC44A1_chr9_105239651_105402346	105354039	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0074 a0002c0002t0074	a0002c0002t0074g0118 a0002c0002t0074g0118	1	55	0.0182	21	c.501 others(38): Show c.501-2164_501-2144dupTTTTTTTTTTTTTTTTTTTTT	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC44A2_chr19_10620553_10649557	10629261	C C	CTATTATT others(14): Show CTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp1 HG03927.hp2 others(1): Show HG02145.hp2 HG02922.hp1 HG03927.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0006t0009	a0001c0001t0001g0223 a0001c0001t0002g0167 a0001c0001t0010g0154 others(1): Show a0001c0001t0001g0223 a0001c0001t0002g0167 a0001c0001t0010g0154 a0001c0006t0009g0153	4	111	0.0360	21	c.245 others(38): Show c.245+1277_245+1278insTTATTATTATTATTATTATTA	SLC44A2	ENSG00000129353.15	transcript	ENST00000335757.10	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SLC44A2_chr19_10620553_10649557	10637608	T T	TCCCCCCC others(14): Show TCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0065 a0001c0001t0005g0065	1	399	0.0025	21	c.159 others(36): Show c.1592-32_1592-31insCCCCCCCCCCCCCCCCCCCCC	SLC44A2	ENSG00000129353.15	transcript	ENST00000335757.10	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SLC44A5_chr1_75197129_75616114	75445522	T T	TGTATATA others(14): Show TGTATATATTACGTAATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0121 a0001c0003t0001g0121	1	154	0.0065	21	c.14- others(38): Show c.14-48922_14-48902dupTATATATTACGTAATATATAC	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	2/23			chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75537033	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	73	0.0137	21	c.13+ others(36): Show c.13+4401_13+4402insATATATATATTTTTTTTTTTT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	2/23			chr1	TogoVar
SLC45A2_chr5_33939623_33989693	33969063	C C	CCTCTCTC others(14): Show CCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0353	1	438	0.0023	21	c.563 others(38): Show c.563-5048_563-5047insCAGAGAGAGAGAGAGAGAGAG	SLC45A2	ENSG00000164175.15	transcript	ENST00000296589.9	protein_coding	2/6			chr5	TogoVar
SLC45A2_chr5_33939623_33989693	33969066	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0198 a0001c0003t0001g0198	1	437	0.0023	21	c.563 others(38): Show c.563-5051_563-5050insGAGAGAGAGAGAGAGAGAGAG	SLC45A2	ENSG00000164175.15	transcript	ENST00000296589.9	protein_coding	2/6			chr5	TogoVar
SLC45A4_chr8_141202174_141313288	141203178	G G	GGAGAGGG others(14): Show GGAGAGGGAGACCGTGGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0078 a0001c0004t0006g0078	1	184	0.0054	21	c.83 others(32): Show c.8393_*8394insTCTCTCCACGGTCTCCCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3995		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141204597	G G	GACAAGAA others(14): Show GACAAGAATTTTTATCCAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0028 a0001c0014t0028	a0001c0014t0028g0029 a0001c0014t0028g0029	1	186	0.0054	21	c.69 others(32): Show c.6974_*6975insATTTTGGATAAAAATTCTTGT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		2576		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141301734	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0096 a0002c0001t0001g0096	1	19	0.0526	21	c.-40 others(40): Show c.-401+6341_-401+6361dupTTTTTTTTTTTTTTTTTTTTT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding	1/8			chr8	TogoVar
SLC46A3_chr13_28695080_28723970	28717484	A A	AATTTTTT others(14): Show AATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18985.hp1 NA18963.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0196 a0001c0001t0009g0195 a0001c0001t0004g0196 a0001c0001t0009g0195	2	329	0.0061	21	c.189 others(36): Show c.189+325_189+326insAAAAAAAAAAAAAAAAAAAAT	SLC46A3	ENSG00000139508.15	transcript	ENST00000266943.11	protein_coding	2/5			chr13	TogoVar
SLC49A3_chr4_676829_694151	681665	G G	GCCCCCTC others(14): Show GCCCCCTCCAGCGCCGCCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02976.hp1 HG01167.hp2 HG02976.hp1	a0001 a0009 a0001 a0009	a0001c0009 a0009c0015 a0001c0009 a0009c0015	a0001c0009t0003 a0009c0015t0003 a0001c0009t0003 a0009c0015t0003	a0001c0009t0003g0066 a0009c0015t0003g0065 a0001c0009t0003g0066 a0009c0015t0003g0065	2	400	0.0050	21	c.29 others(30): Show c.292_*293insTGAGGGCGGCGCTGGAGGGGG	SLC49A3	ENSG00000169026.13	transcript	ENST00000322224.9	protein_coding		163		chr4	TogoVar
SLC4A1AP_chr2_27658889_27699969	27693124	A A	ATTTTGCA others(14): Show ATTTTGCAACGTAGAGTAGGGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp1 HG01169.hp2 others(21): Show HG00639.hp2 HG01167.hp1 HG01169.hp2 HG01346.hp2 HG01358.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02818.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0013	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0001c0013t0001	a0001c0001t0001g0051 a0001c0001t0001g0071 a0001c0001t0001g0075 others(14): Show a0001c0001t0001g0051 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0002g0007 a0001c0003t0002g0018 a0001c0003t0002g0039 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0045 a0001c0006t0001g0017 a0001c0013t0001g0055	24	332	0.0723	21	c.211 others(38): Show c.2110-550_2110-549insAGAGTAGGGGTTTTGCAACGT	SLC4A1AP	ENSG00000163798.14	transcript	ENST00000326019.11	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC4A1_chr17_44243390_44273135	44263707	C C	CTCCTTCC others(14): Show CTCCTTCCCTCCCTTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	28	0.0357	21	c.-68 others(36): Show c.-68-774_-68-773insAGGAGGGAAGGGAGGGAAGGA	SLC4A1	ENSG00000004939.16	transcript	ENST00000262418.12	protein_coding	1/19			chr17	TogoVar
SLC4A2_chr7_151054589_151081523	151069140	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp2 HG00733.hp1 others(72): Show HG00621.hp1 HG00639.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01109.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02080.hp2 HG02083.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02683.hp2 HG02818.hp2 HG02970.hp2 HG03239.hp2 HG03486.hp1 HG03516.hp2 HG04228.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18972.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18992.hp2 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19056.hp2 NA19065.hp2 NA19067.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0009 others(5): Show a0001c0002 a0001c0003 a0001c0009 a0001c0012 a0002c0001 a0002c0014 a0002c0019 a0002c0022	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(7): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0009t0001 a0001c0012t0001 a0002c0001t0001 a0002c0001t0002 a0002c0014t0002 a0002c0019t0001 a0002c0022t0002	a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0036 others(20): Show a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0036 a0001c0002t0001g0078 a0001c0002t0001g0119 a0001c0002t0001g0144 a0001c0003t0001g0109 a0001c0003t0002g0018 a0001c0003t0002g0188 a0001c0009t0001g0017 a0001c0012t0001g0006 a0002c0001t0001g0045 a0002c0001t0001g0167 a0002c0001t0002g0001 a0002c0001t0002g0008 a0002c0001t0002g0046 a0002c0001t0002g0168 a0002c0001t0002g0178 a0002c0001t0002g0197 a0002c0014t0002g0001 a0002c0014t0002g0151 a0002c0019t0001g0166 a0002c0022t0002g0001	75	97	0.7732	21	c.114 others(38): Show c.1148-788_1148-787insAAAAAAAAAAAAAAAAAAAAA	SLC4A2	ENSG00000164889.15	transcript	ENST00000413384.7	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC5A11_chr16_24840963_24916626	24849593	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	167	0.0060	21	c.-25 others(38): Show c.-25+3156_-25+3157insAAAAAAAAAAAAATATATATA	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A11_chr16_24840963_24916626	24849593	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0175 a0002c0003t0001g0175	1	167	0.0060	21	c.-25 others(38): Show c.-25+3156_-25+3157insAAAAAAAAAAATATATATATA	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A11_chr16_24840963_24916626	24849593	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0323 a0002c0005t0002g0323	1	167	0.0060	21	c.-25 others(38): Show c.-25+3156_-25+3157insAAAAATATATATATATATATA	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A3_chr21_34068578_34111260	34068818	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0175 a0001c0001t0015g0175	1	324	0.0031	21	c.-52 others(32): Show c.-5264_-5263insAAAAAAAAAAAAAAAAAAAAG	SLC5A3	ENSG00000198743.7	transcript	ENST00000381151.5	protein_coding		4759		chr21	TogoVar
SLC5A4_chr22_32213464_32260347	32218406	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0098 a0003c0007t0001g0098	1	25	0.0400	21	c.10 others(30): Show c.107_*108insTTTTTTTTTTTTTTTTTTTTT	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding		57		chr22	TogoVar
SLC5A4_chr22_32213464_32260347	32239581	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	299	0.0033	21	c.478 others(36): Show c.478-492_478-491insTATATATATATATATATATAT	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding	5/14			chr22	TogoVar
SLC66A2_chr18_79897420_79956653	79949285	A A	ACACCTCA others(14): Show ACACCTCAGCATCAGAACTCAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0289 a0001c0001t0003g0289	1	350	0.0029	21	c.203 others(38): Show c.203+1418_203+1438dupATGAGTTCTGATGCTGAGGTG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	2/5			chr18	TogoVar

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