Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP10B_chr5_160558120_160857211	160653450	A A	ACATATAT others(23): Show ACATATATATTACATATACATATATACATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(52): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00673.hp2 HG00738.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG02074.hp2 HG02083.hp1 HG02451.hp1 HG02622.hp2 HG02683.hp2 HG03017.hp1 HG03017.hp2 HG03492.hp2 HG03831.hp1 HG03927.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18942.hp1 NA18948.hp2 NA18961.hp1 NA18961.hp2 NA18972.hp1 NA18990.hp2 NA19084.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0010 others(4): Show a0001 a0002 a0010 a0016 a0019 a0021 a0024	a0001c0001 a0001c0002 a0001c0005 others(12): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011 a0001c0033 a0002c0004 a0002c0010 a0002c0013 a0002c0023 a0002c0037 a0010c0014 a0016c0026 a0019c0035 a0021c0034 a0024c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0049 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0005t0014 a0001c0005t0016 a0001c0011t0035 a0001c0033t0016 a0002c0004t0004 a0002c0004t0008 a0002c0010t0002 a0002c0010t0004 a0002c0010t0008 a0002c0013t0043 a0002c0023t0036 a0002c0037t0006 a0010c0014t0050 a0016c0026t0002 a0019c0035t0004 a0021c0034t0004 a0024c0020t0009	a0001c0001t0001g0017 a0001c0001t0002g0009 a0001c0001t0002g0010 others(52): Show a0001c0001t0001g0017 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0020 a0001c0001t0002g0047 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0002g0116 a0001c0001t0002g0130 a0001c0001t0002g0151 a0001c0001t0002g0193 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0216 a0001c0001t0004g0125 a0001c0001t0004g0165 a0001c0001t0004g0232 a0001c0001t0009g0007 a0001c0001t0009g0040 a0001c0001t0009g0080 a0001c0001t0009g0098 a0001c0001t0009g0208 a0001c0001t0049g0132 a0001c0002t0005g0018 a0001c0002t0005g0127 a0001c0002t0006g0068 a0001c0002t0006g0218 a0001c0002t0010g0108 a0001c0002t0010g0111 a0001c0002t0010g0152 a0001c0002t0010g0211 a0001c0005t0014g0022 a0001c0005t0014g0042 a0001c0005t0014g0082 a0001c0005t0016g0110 a0001c0011t0035g0195 a0001c0033t0016g0210 a0002c0004t0004g0149 a0002c0004t0008g0086 a0002c0004t0008g0096 a0002c0010t0002g0200 a0002c0010t0004g0112 a0002c0010t0004g0142 a0002c0010t0008g0014 a0002c0013t0043g0181 a0002c0023t0036g0148 a0002c0037t0006g0015 a0010c0014t0050g0106 a0016c0026t0002g0035 a0019c0035t0004g0062 a0021c0034t0004g0055 a0024c0020t0009g0094	55	236	0.2331	30	c.676 others(47): Show c.676-4195_676-4194insATATGTATATATGTATATGTAATATATA TG	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160704914	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03017.hp1 HG02486.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0001t0002 a0001c0002t0005	a0001c0001t0002g0074 a0001c0002t0005g0021 a0001c0001t0002g0074 a0001c0002t0005g0021	2	236	0.0085	30	c.-20 others(51): Show c.-205+11994_-205+11995insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	3/25			chr5	TogoVar
ATP10D_chr4_47480275_47598486	47482454	C C	CTCTTCCT others(23): Show CTCTTCCTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0049 a0049	a0049c0035 a0049c0035	a0049c0035t0012 a0049c0035t0012	a0049c0035t0012g0027 a0049c0035t0012g0027	1	332	0.0030	30	c.-31 others(41): Show c.-3103_-3102insTCTTCCTCTTCTTCTTCTTCTTCTTCTTCT	ATP10D	ENSG00000145246.14	transcript	ENST00000273859.8	protein_coding		2820		chr4	TogoVar
ATP11A_chr13_112685038_112892168	112804051	T T	TTCCTCCT others(23): Show TTCCTCCTTTCTTCCCTTCCTTCCCTCATTC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0067 a0001c0026t0001g0067	1	254	0.0039	30	c.163 others(45): Show c.163-898_163-897insTCTTCCCTTCCTTCCCTCATTCTCCTCCTT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112828118	G G	GAAACGCC others(23): Show GAAACGCCCAGCAGTGTTGAGTGCGGGGGGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0050 a0001c0004t0050	a0001c0004t0050g0033 a0001c0004t0050g0033	1	254	0.0039	30	c.122 others(49): Show c.1221+1229_1221+1230insACGCCCAGCAGTGTTGAGTGCGGGGG GAAA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112828118	G G	GGAAACGC others(23): Show GGAAACGCCCAGCAGTGTTGAGTGCGGGGGA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0095 a0001c0001t0010g0095	1	254	0.0039	30	c.122 others(49): Show c.1221+1227_1221+1228insGAAACGCCCAGCAGTGTTGAGTGCGG GGGA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	12/29			chr13	TogoVar
ATP11B_chr3_182788504_182926629	182839604	A A	ATTTATTT others(23): Show ATTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0269 a0001c0002t0010g0269	1	324	0.0031	30	c.656 others(47): Show c.656+2447_656+2448insTATTTTATTTTATTTTATTTTATTTTAT TT	ATP11B	ENSG00000058063.16	transcript	ENST00000323116.10	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP11C_chrX_139721348_139938053	139922223	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0215 a0001c0001t0010g0215	1	234	0.0043	30	c.27+ others(45): Show c.27+9763_27+9792dupATATATATATATATATATATATATATATAT	ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	1/29			chrX	TogoVar
ATP1A4_chr1_160146603_160191980	160151156	A A	ACCTGTAA others(23): Show ACCTGTAAATTTTGGCTAAAATTACAGGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0064 a0001c0003t0001g0064	1	418	0.0024	30	c.-88 others(39): Show c.-885_-884insCCTGTAAATTTTGGCTAAAATTACAGGTGC	ATP1A4	ENSG00000132681.17	transcript	ENST00000368081.9	protein_coding		446		chr1	TogoVar
ATP1A4_chr1_160146603_160191980	160186086	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0177 a0002c0013t0002g0177	1	418	0.0024	30	c.297 others(47): Show c.2970-168_2970-167insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ATP1A4	ENSG00000132681.17	transcript	ENST00000368081.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP1B3_chr3_141871643_141931549	141874438	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0100 a0001c0001t0006g0100	1	408	0.0025	30	c.-23 others(41): Show c.-2364_-2363insAAAAAAAAAAAAAAAAAAAAAAATATATAT	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding		2204		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874438	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0102 a0001c0001t0006g0102	1	408	0.0025	30	c.-23 others(41): Show c.-2364_-2363insAAAAAAAAAAATATATATATATATATATAT	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding		2204		chr3	TogoVar
ATP2B1_chr12_89583049_89713838	89677971	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	332	0.0030	30	c.-22 others(51): Show c.-221-21865_-221-21864insGTGTGTGTATATATATATATATAT ATATAT	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20			chr12	TogoVar
ATP2B1_chr12_89583049_89713838	89677971	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03927.hp2 HG01109.hp1 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0046 a0001c0002t0001g0039 a0001c0002t0001g0046	2	332	0.0060	30	c.-22 others(51): Show c.-221-21865_-221-21864insGTGTGTATATATATATATATATAT ATATAT	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20			chr12	TogoVar
ATP2B4_chr1_203621832_203749081	203744827	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0230 a0001c0001t0004g0230	1	318	0.0031	30	c.49 others(41): Show c.4973_*4974insACACACACACACACACACACACACACACAC	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding		747		chr1	TogoVar
ATP2C1_chr3_130889084_131008150	130903700	C C	CCCTTTCC others(23): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	382	0.0026	30	c.6+8 others(43): Show c.6+8933_6+8962dupTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP2C1_chr3_130889084_131008150	130941252	G G	GTGTGTCT others(23): Show GTGTGTCTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02486.hp1 HG02615.hp2 others(1): Show HG01255.hp1 HG02486.hp1 HG02615.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 others(1): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141	4	382	0.0105	30	c.423 others(45): Show c.423-334_423-333insCTGTGTGTGTGTGTGTGTGTGTGTCTGTGT	ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP2C2_chr16_84363538_84469187	84383735	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0130 a0001c0009t0001g0130	1	432	0.0023	30	c.100 others(49): Show c.100-14749_100-14748insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84397655	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00738.hp1 HG01069.hp1 others(2): Show HG00609.hp1 HG00738.hp1 HG01069.hp1 HG01981.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0002c0008	a0001c0001t0003 a0001c0003t0001 a0001c0005t0001 others(2): Show a0001c0001t0003 a0001c0003t0001 a0001c0005t0001 a0001c0010t0003 a0002c0008t0001	a0001c0001t0003g0324 a0001c0003t0001g0179 a0001c0005t0001g0187 others(2): Show a0001c0001t0003g0324 a0001c0003t0001g0179 a0001c0005t0001g0187 a0001c0010t0003g0146 a0002c0008t0001g0153	5	432	0.0116	30	c.100 others(45): Show c.100-826_100-825insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP5MC1_chr17_48887787_48900871	48890144	A A	AAAAAGAA others(23): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02135.hp2 HG02622.hp2 others(3): Show HG02071.hp1 HG02135.hp2 HG02622.hp2 HG02630.hp2 HG03017.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0016 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0003g0005	6	334	0.0180	30	c.-27 others(41): Show c.-2776_-2775insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding		2642		chr17	TogoVar
ATP5MC2_chr12_53660170_53681083	53672083	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01168.hp2 HG00733.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	2	418	0.0048	30	c.39+ others(43): Show c.39+492_39+493insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4			chr12	TogoVar
ATP5PB_chr1_111444464_111467773	111467020	G G	GAGACTGG others(23): Show GAGACTGGATAATTTATAAAGAAAATACAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	434	0.0023	30	c.60 others(41): Show c.6026_*6027insAGACTGGATAATTTATAAAGAAAATACAAT	ATP5PB	ENSG00000116459.11	transcript	ENST00000369722.8	protein_coding		4248		chr1	TogoVar
ATP6AP2_chrX_40575970_40611848	40610862	T T	TATATACA others(23): Show TATATACATATATGTATATGTATATATTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG02717.hp1 others(2): Show HG00642.hp1 HG00741.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0003 a0002c0005t0001 a0001c0002t0003 a0002c0005t0001	a0001c0002t0003g0036 a0001c0002t0003g0196 a0002c0005t0001g0002 others(1): Show a0001c0002t0003g0036 a0001c0002t0003g0196 a0002c0005t0001g0002 a0002c0005t0001g0008	5	299	0.0167	30	c.51 others(41): Show c.5107_*5108insATATACATATATGTATATGTATATATTCAC	ATP6AP2	ENSG00000182220.15	transcript	ENST00000636580.2	protein_coding		4015		chrX	TogoVar
ATP6AP2_chrX_40575970_40611848	40610889	T T	TCACATAT others(23): Show TCACATATACATATATACATCTATGTACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00639.hp1 others(67): Show HG00438.hp2 HG00621.hp1 HG00639.hp1 HG01081.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02145.hp1 HG02155.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18940.hp1 NA18941.hp2 NA18946.hp2 NA18953.hp1 NA18963.hp1 NA18969.hp2 NA18972.hp1 NA18979.hp2 NA18989.hp1 NA18998.hp1 NA19002.hp1 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19078.hp2 NA19084.hp2 NA19086.hp1 NA19240.hp1 NA20300.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0004 a0005c0008 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0003t0003 a0001c0006t0003 a0003c0004t0003 a0005c0008t0002 a0006c0009t0003	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0003g0045 others(52): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0015 a0001c0002t0002g0026 a0001c0002t0002g0037 a0001c0002t0002g0100 a0001c0002t0002g0127 a0001c0002t0002g0148 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0187 a0001c0002t0002g0190 a0001c0002t0003g0038 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0158 a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0180 a0001c0002t0003g0184 a0001c0002t0007g0151 a0001c0002t0008g0005 a0001c0003t0003g0023 a0001c0003t0003g0024 a0001c0003t0003g0080 a0001c0003t0003g0081 a0001c0003t0003g0082 a0001c0006t0003g0078 a0001c0006t0003g0079 a0003c0004t0003g0014 a0003c0004t0003g0170 a0003c0004t0003g0193 a0005c0008t0002g0099 a0006c0009t0003g0179	70	299	0.2341	30	c.51 others(41): Show c.5134_*5135insCACATATACATATATACATCTATGTACATG	ATP6AP2	ENSG00000182220.15	transcript	ENST00000636580.2	protein_coding		4042		chrX	TogoVar
ATP6V0A2_chr12_123707353_123766755	123712055	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 NA20805.hp1 HG00140.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0002 a0001c0001t0014 a0001c0002t0002	a0001c0001t0014g0016 a0001c0002t0002g0004 a0001c0001t0014g0016 a0001c0002t0002g0004	2	222	0.0090	30	c.-51 others(39): Show c.-511_-510insCACACACACACACACACACACACACACACA	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		297		chr12	TogoVar
ATP6V0A4_chr7_138701294_138803196	138704324	C C	CGGTGGCT others(23): Show CGGTGGCTCACACCTGTAATCCCAGCACTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0068 a0003c0004t0008g0068	1	376	0.0027	30	c.22 others(41): Show c.2299_*2300insAAAGTGCTGGGATTACAGGTGTGAGCCACC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding		1969		chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138707363	T T	TTATATAT others(23): Show TTATATATATATTTATATATATATTATATTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0150 a0002c0003t0001g0150	1	376	0.0027	30	c.243 others(47): Show c.2430-647_2430-646insTAATATAATATATATATAAATATATATA TA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718577	C C	CATGGGGA others(23): Show CATGGGGAGGAATGGGGAGGAATGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0354 a0003c0004t0002g0354	1	376	0.0027	30	c.214 others(49): Show c.2140-2697_2140-2696insTCCTCCCCATTCCTCCCCATTCCTCC CCAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138803166	T T	TCTTCTGT others(23): Show TCTTCTGTTGTTGTTGACTATGCGTCGAGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	376	0.0027	30	c.-52 others(41): Show c.-5254_-5253insTACTCGACGCATAGTCAACAACAACAGAAG	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding		4971		chr7	TogoVar
ATP6V0D2_chr8_86093910_86159225	86126236	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG00738.hp1 others(6): Show HG00099.hp1 HG00621.hp1 HG00738.hp1 HG00741.hp1 HG01243.hp1 HG02080.hp1 NA18988.hp1 NA19060.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0022 others(6): Show a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0101 a0001c0001t0001g0313	9	360	0.0250	30	c.302 others(49): Show c.302+12383_302+12384insATATATATATATATATATATATATAT ATAT	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86126236	C C	CTATATAT others(23): Show CTATATATATATATATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	360	0.0028	30	c.302 others(49): Show c.302+12371_302+12372insGTATATATATATATATATATATATAT ATAT	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86158900	A A	AGGTTAGA others(23): Show AGGTTAGACAGCAATAAATGGAAAAGAATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	360	0.0028	30	c.59 others(41): Show c.5923_*5924insGGTTAGACAGCAATAAATGGAAAAGAATTT	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding		4676		chr8	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546451	C C	CATATATA others(23): Show CATATATATATATATATATATGTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02809.hp1 HG00639.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0076 a0001c0001t0004g0123 a0001c0001t0001g0076 a0001c0001t0004g0123	2	410	0.0049	30	c.-46 others(41): Show c.-4609_-4608insATATATATACATATATATATATATATATAT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		3875		chr2	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CACACATA others(23): Show CACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0308 a0001c0001t0012g0308	1	310	0.0032	30	c.50- others(45): Show c.50-8674_50-8673insATATATATATATATATATATATATATGTGT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0202 a0001c0001t0005g0202	1	310	0.0032	30	c.50- others(45): Show c.50-8674_50-8673insATATATATATATATATATATATATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(23): Show CCTCCCTCCCTCTCTCTCTCTCTCTCTCTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0024 a0001c0018t0024	a0001c0018t0024g0066 a0001c0018t0024g0066	1	122	0.0082	30	c.77- others(45): Show c.77-3226_77-3225insCCTCCCTCTCTCTCTCTCTCTCTCTTTCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25892478	G G	GTCTCTCT others(23): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03041.hp1 HG03098.hp2 others(1): Show HG02280.hp1 HG03041.hp1 HG03098.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0010 a0001c0001 a0001c0009 a0001c0010	a0001c0001t0046 a0001c0009t0037 a0001c0010t0012 others(1): Show a0001c0001t0046 a0001c0009t0037 a0001c0010t0012 a0001c0010t0056	a0001c0001t0046g0045 a0001c0009t0037g0008 a0001c0010t0012g0091 others(1): Show a0001c0001t0046g0045 a0001c0009t0037g0008 a0001c0010t0012g0091 a0001c0010t0056g0006	4	122	0.0328	30	c.318 others(51): Show c.3183+30096_3183+30097insTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57648882	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18984.hp1 NA19090.hp1 others(1): Show HG03139.hp1 NA18984.hp1 NA19090.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0039	a0001c0001t0004g0103 a0001c0001t0007g0300 a0001c0001t0008g0142 others(1): Show a0001c0001t0004g0103 a0001c0001t0007g0300 a0001c0001t0008g0142 a0001c0001t0039g0149	4	314	0.0127	30	c.353 others(47): Show c.3532-171_3532-170insTACACACACACACACACACACACACACA CA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	27/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57672978	C C	CACATATA others(23): Show CACATATAAATATATGTATATATATAAATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0109 a0001c0001t0006g0109	1	314	0.0032	30	c.182 others(49): Show c.1820-1399_1820-1398insATATTTATATATATACATATATTTAT ATGT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57672978	C C	CATATATA others(23): Show CATATATAAATATATGTATATATATAAATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0006 a0010c0010t0006	a0010c0010t0006g0028 a0010c0010t0006g0028	1	314	0.0032	30	c.182 others(49): Show c.1820-1399_1820-1398insATATTTATATATATACATATATTTAT ATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57680277	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0253 a0001c0001t0009g0253	1	314	0.0032	30	c.163 others(49): Show c.1630+3758_1630+3759insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756192	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0148 a0001c0001t0040g0148	1	314	0.0032	30	c.-25 others(49): Show c.-25-24361_-25-24360insATATATATATATATATATATATATAT ATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756305	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA20300.hp1 HG03540.hp1 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0048 a0006c0009t0033 a0001c0001t0048 a0006c0009t0033	a0001c0001t0048g0312 a0006c0009t0033g0080 a0001c0001t0048g0312 a0006c0009t0033g0080	2	314	0.0064	30	c.-25 others(49): Show c.-25-24474_-25-24473insCATATATATATATATATATATATATA TATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57800148	T T	TTAAGTGC others(23): Show TTAAGTGCTTAAGCAATTTAAAAGGCATCTC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	314	0.0032	30	c.-26 others(47): Show c.-26+2820_-26+2849dupGAGATGCCTTTTAAATTGCTTAAGCACT TA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B4_chr15_49853238_50124233	50072980	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0010 a0012c0013t0010	a0012c0013t0010g0223 a0012c0013t0010g0223	1	254	0.0039	30	c.87+ others(45): Show c.87+1146_87+1147insTATATATAGAGAGAGAGAGAGAGAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51718814	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0132 a0001c0001t0012g0132	1	312	0.0032	30	c.328 others(47): Show c.328-5770_328-5741dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	3/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01952.hp1 NA19030.hp2 HG01071.hp2 HG01952.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0024 a0001c0001 a0001c0004 a0001c0024	a0001c0001t0001 a0001c0004t0003 a0001c0024t0004 a0001c0001t0001 a0001c0004t0003 a0001c0024t0004	a0001c0001t0001g0059 a0001c0004t0003g0060 a0001c0024t0004g0058 a0001c0001t0001g0059 a0001c0004t0003g0060 a0001c0024t0004g0058	3	298	0.0101	30	c.119 others(47): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79224928	G G	GCGACCTG others(23): Show GCGACCTGTCTCCAGCAGCTCCCAGGAACCA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp2 HG02630.hp2 others(1): Show HG01952.hp2 HG02055.hp2 HG02630.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0003 a0001c0004t0002 a0001c0004t0003	a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097 others(1): Show a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097 a0001c0004t0003g0098	4	298	0.0134	30	c.110 others(51): Show c.1107+10896_1107+10925dupTGTCTCCAGCAGCTCCCAGGAACC ACGACC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79231803	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02970.hp2 HG02809.hp1 HG02970.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0105 a0001c0011t0006g0107 a0001c0011t0006g0105 a0001c0011t0006g0107	2	298	0.0067	30	c.110 others(51): Show c.1107+17766_1107+17767insTATATATATATATATATATACACA CACACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256257	C C	CCATATAT others(23): Show CCATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0004 a0003c0021t0004	a0003c0021t0004g0284 a0003c0021t0004g0284	1	298	0.0034	30	c.126 others(49): Show c.1268+2716_1268+2717insCATATATATATATATATATATATATA TATA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29			chr18	TogoVar