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
ASB5_chr4_176208673_176274222	176218955	A A	AATATATA others(33): Show AATATATATTTGTATGATATATAAATATATATATTTGTATG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG03195.hp2 others(2): Show HG02486.hp1 HG02615.hp1 HG03195.hp2 HG03516.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0043 others(2): Show a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0002t0004g0045	5	266	0.0188	40	c.671 others(57): Show c.671-1986_671-1947dupCATACAAATATATATATTTATATATCAT ACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB7_chr15_100597589_100656701	100655382	A A	AGGTGACA others(33): Show AGGTGACAAGTAGGTATCCTTCCCTCCACCAGCCTAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	366	0.0027	40	c.69 others(51): Show c.6920_*6921insGGTGACAAGTAGGTATCCTTCCCTCCACCAGCCT AGAGAG	ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding		3682		chr15	TogoVar
ASCC3_chr6_100503194_100886329	100608714	T T	TTTATACT others(33): Show TTTATACTTTATATATATATTTATACTTTATATATATATAC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0097 a0001c0002t0003g0097	1	194	0.0052	40	c.478 others(59): Show c.4786-1627_4786-1626insGTATATATATATAAAGTATAAATATA TATATAAAGTATAA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCL1_chr12_102952674_102965513	102962440	C C	CTTTCTTT others(33): Show CTTTCTTTCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	216	0.0046	40	c.31 others(51): Show c.3126_*3127insTTTCTTTCTTCCTTCCTTTCTTTCTCTTTCTTTC TTTCTT	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1928		chr12	TogoVar
ASDURF_chr2_189656459_189671401	189665606	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	328	0.0030	40	c.220 others(55): Show c.220+190_220+191insGTGTGTATATATATATATATATATATATAT ATATATATAT	ASDURF	ENSG00000286053.2	transcript	ENST00000607829.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASGR1_chr17_7168431_7184370	7183193	T T	TTTTGGCC others(33): Show TTTTGGCCAGGCATGGTGGCTCATGCCTCTAATCCCAGCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	440	0.0023	40	c.-40 others(51): Show c.-4030_-4029insGTGCTGGGATTAGAGGCATGAGCCACCATGCCTG GCCAAA	ASGR1	ENSG00000141505.12	transcript	ENST00000269299.8	protein_coding		3824		chr17	TogoVar
ASMT_chrX_1610059_1648081	1613176	C C	CTTCTTTC others(33): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0090 a0001c0003t0001g0090	1	91	0.0110	40	c.-20 others(51): Show c.-2024_-2023insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		1882		chrX	TogoVar
ASNSD1_chr2_189656459_189675831	189665606	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	328	0.0030	40	c.-93 others(55): Show c.-93+190_-93+191insGTGTGTATATATATATATATATATATATAT ATATATATAT	ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASS1_chr9_130439961_130506274	130483758	T T	TCCTTTCC others(33): Show TCCTTTCCTCCTCCCTCTCTCCCTTTCCTCCTCCCTCTCTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03098.hp2 HG01891.hp1 HG03098.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0001 a0007c0011t0001 a0001c0001t0001 a0007c0011t0001	a0001c0001t0001g0172 a0007c0011t0001g0168 a0001c0001t0001g0172 a0007c0011t0001g0168	2	99	0.0202	40	c.838 others(57): Show c.838+3323_838+3362dupCTCTCTCCCTTTCCTCCTCCCTCTCTCC CTTTCCTCCTCC	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASTN2_chr9_116418112_117420057	117003530	G G	GGTGTGTG others(33): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG04199.hp2 NA19065.hp1 HG02004.hp1 HG04199.hp2 NA19065.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0020 a0001c0002 a0006c0020	a0001c0002t0003 a0001c0002t0010 a0006c0020t0001 a0001c0002t0003 a0001c0002t0010 a0006c0020t0001	a0001c0002t0003g0022 a0001c0002t0010g0063 a0006c0020t0001g0039 a0001c0002t0003g0022 a0001c0002t0010g0063 a0006c0020t0001g0039	3	8	0.3750	40	c.159 others(59): Show c.1591+4561_1591+4562insACACACACACACACACACACACACAC ACACACACACACAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060442	G G	GAGAGAGA others(33): Show GAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	72	0.0139	40	c.127 others(61): Show c.1277-20478_1277-20477insTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTCTCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASXL3_chr18_33573219_33756195	33601785	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01943.hp1 HG02615.hp2 others(8): Show HG00741.hp1 HG01943.hp1 HG02615.hp2 HG03041.hp1 HG03239.hp1 HG03490.hp2 HG03710.hp1 HG03831.hp2 HG04204.hp1 NA18971.hp1 NA19065.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0011	a0001c0001 a0002c0002 a0005c0007 others(1): Show a0001c0001 a0002c0002 a0005c0007 a0011c0012	a0001c0001t0002 a0001c0001t0005 a0002c0002t0003 others(4): Show a0001c0001t0002 a0001c0001t0005 a0002c0002t0003 a0002c0002t0004 a0002c0002t0023 a0005c0007t0002 a0011c0012t0001	a0001c0001t0002g0124 a0001c0001t0005g0015 a0001c0001t0005g0022 others(8): Show a0001c0001t0002g0124 a0001c0001t0005g0015 a0001c0001t0005g0022 a0002c0002t0003g0111 a0002c0002t0003g0132 a0002c0002t0003g0136 a0002c0002t0003g0217 a0002c0002t0004g0038 a0002c0002t0023g0139 a0005c0007t0002g0134 a0011c0012t0001g0039	11	111	0.0991	40	c.55- others(55): Show c.55-5799_55-5798insTATATATATATATATATATATATATATATA TATATATATA	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33601785	G G	GTTTATAT others(33): Show GTTTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp2 HG01109.hp1 others(4): Show HG00621.hp2 HG00735.hp2 HG01109.hp1 HG02300.hp2 HG02622.hp2 NA19057.hp1 NA20300.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0004c0004 a0005c0007	a0001c0001t0029 a0001c0005t0002 a0002c0002t0003 others(2): Show a0001c0001t0029 a0001c0005t0002 a0002c0002t0003 a0004c0004t0004 a0005c0007t0001	a0001c0001t0029g0164 a0001c0005t0002g0061 a0001c0005t0002g0165 others(4): Show a0001c0001t0029g0164 a0001c0005t0002g0061 a0001c0005t0002g0165 a0002c0002t0003g0108 a0002c0002t0003g0109 a0004c0004t0004g0059 a0005c0007t0001g0107	7	107	0.0654	40	c.55- others(55): Show c.55-5808_55-5807insTTATATATATATATATATATATATATATAT ATATATATAT	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATAD1_chr10_87746512_87823226	87798623	G G	GGTGTGTG others(33): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	319	0.0031	40	c.163 others(57): Show c.163-5869_163-5868insACACACACACACACACACACACACACAC ACACACACACAC	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9			chr10	TogoVar
ATAD1_chr10_87746512_87823226	87798625	G G	GGTGTGTG others(33): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02922.hp2 HG03486.hp2 others(1): Show HG02723.hp2 HG02922.hp2 HG03486.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0074 a0001c0001t0003g0095 others(1): Show a0001c0001t0003g0070 a0001c0001t0003g0074 a0001c0001t0003g0095 a0001c0001t0003g0105	4	147	0.0272	40	c.163 others(57): Show c.163-5871_163-5870insACACACACACACACACACACACACACAC ACACACACACAC	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9			chr10	TogoVar
ATCAY_chr19_3875685_3933082	3933015	T T	TGGTGTCA others(33): Show TGGTGTCACGCTGAGATCCTGTGGCTGGGCCCCCGGTCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	382	0.0026	40	c.84 others(51): Show c.8423_*8424insGGTGTCACGCTGAGATCCTGTGGCTGGGCCCCCG GTCACC	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding		4934		chr19	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCTTT others(33): Show CTTTCTTTCTTTCCTTCTTTCTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	1	149	0.0067	40	c.108 others(57): Show c.108+5681_108+5682insTTTCTTTCTTTCCTTCTTTCTTTCTTTT CTTTTCTTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCTTT others(33): Show CTTTCTTTCTTTCTTTCCTTCTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA19030.hp2 HG00741.hp2 NA19030.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0009 a0006c0006t0001 a0001c0001t0009 a0006c0006t0001	a0001c0001t0009g0152 a0006c0006t0001g0123 a0001c0001t0009g0152 a0006c0006t0001g0123	2	150	0.0133	40	c.108 others(57): Show c.108+5681_108+5682insTTTCTTTCTTTCTTTCCTTCTTTCTTTT CTTTTCTTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATG10_chr5_81967023_82261133	81993360	C C	CTTCTTTT others(33): Show CTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0207 a0003c0003t0003g0207	1	48	0.0208	40	c.108 others(57): Show c.108+5714_108+5715insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82121941	G G	GTTTTTTT others(33): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0136 a0001c0001t0009g0136	1	176	0.0057	40	c.217 others(59): Show c.217-42439_217-42438insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG7_chr3_11267397_11562665	11497357	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0196 a0001c0001t0004g0196	1	40	0.0250	40	c.208 others(61): Show c.2080-57419_2080-57418insATATATATATATATATATATATAT ATATATATATATATAT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP10B_chr5_160558120_160857211	160637017	T T	TATCCATC others(33): Show TATCCATCCATCCATCCATCTATCCATCCATCCATCCATGA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0028 a0010c0014t0028	a0010c0014t0028g0141 a0010c0014t0028g0141	1	180	0.0056	40	c.100 others(57): Show c.1001-709_1001-708insTCATGGATGGATGGATGGATAGATGGAT GGATGGATGGAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	10/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112766784	A A	AGGAGGAT others(33): Show AGGAGGATGTGGGAGTGCCTGGGGCCACTGTGGGAAGGTGG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01433.hp2 HG01496.hp1 others(6): Show HG01169.hp2 HG01433.hp2 HG01496.hp1 HG01891.hp1 HG01934.hp2 HG01952.hp2 HG02083.hp2 HG02965.hp1 NA19074.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0003c0008 a0004c0027	a0001c0001t0001 a0001c0002t0012 a0001c0002t0055 others(5): Show a0001c0001t0001 a0001c0002t0012 a0001c0002t0055 a0001c0002t0061 a0001c0004t0002 a0001c0004t0030 a0003c0008t0005 a0004c0027t0074	a0001c0001t0001g0121 a0001c0001t0001g0219 a0001c0002t0012g0026 others(6): Show a0001c0001t0001g0121 a0001c0001t0001g0219 a0001c0002t0012g0026 a0001c0002t0055g0117 a0001c0002t0061g0201 a0001c0004t0002g0195 a0001c0004t0030g0060 a0003c0008t0005g0249 a0004c0027t0074g0155	9	228	0.0395	40	c.40- others(57): Show c.40-18339_40-18338insAGTGCCTGGGGCCACTGTGGGAAGGTGG GGAGGATGTGGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112766784	A A	AGGAGGAT others(33): Show AGGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01099.hp2 HG01106.hp2 others(4): Show HG00280.hp1 HG01099.hp2 HG01106.hp2 HG01934.hp1 HG03942.hp1 NA18962.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0030	a0001c0001t0001 a0001c0002t0007 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0002t0007 a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0030t0001	a0001c0001t0001g0105 a0001c0002t0007g0111 a0001c0004t0001g0107 others(4): Show a0001c0001t0001g0105 a0001c0002t0007g0111 a0001c0004t0001g0107 a0001c0005t0001g0087 a0001c0005t0002g0095 a0001c0006t0001g0164 a0001c0030t0001g0104	7	226	0.0310	40	c.40- others(57): Show c.40-18337_40-18336insTGTTGGGGGCCCCTGTGGGAAGGTGGGG AGGATGTGGGGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767037	C C	CGTTGGGG others(33): Show CGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0030 a0001c0004t0030	a0001c0004t0030g0060 a0001c0004t0030g0060	1	176	0.0057	40	c.40- others(57): Show c.40-18069_40-18068insGATGTGGGGGTGTTGGGGGCCCCTGTGG GAAGGTGGGGAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767116	T T	TGTTGGGG others(33): Show TGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0011 a0011	a0011c0041 a0011c0041	a0011c0041t0001 a0011c0041t0001	a0011c0041t0001g0169 a0011c0041t0001g0169	1	245	0.0041	40	c.40- others(57): Show c.40-18018_40-18017insTTGGGGGCCCCTGTGGGAAGGTGGGGAG GATGTGGGGGCG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767276	T T	TTGGGGGC others(33): Show TTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0063 a0001c0005t0063	a0001c0005t0063g0130 a0001c0005t0063g0130	1	244	0.0041	40	c.40- others(57): Show c.40-17831_40-17830insGTGTGGGAGTGCTGGGGGCCCCTGTGGG AAGGTGGGGAGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112815332	A A	ACACCCTT others(33): Show ACACCCTTCAGACACACAGTCCAGATCTGCGATACCTTCCT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19005.hp2 HG02129.hp1 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0026 a0002c0025 a0001c0026 a0002c0025	a0001c0026t0001 a0002c0025t0002 a0001c0026t0001 a0002c0025t0002	a0001c0026t0001g0067 a0002c0025t0002g0037 a0001c0026t0001g0067 a0002c0025t0002g0037	2	252	0.0079	40	c.442 others(55): Show c.442-728_442-727insATCTGCGATACCTTCCTCACCCTTCAGACA CACAGTCCAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP2B1_chr12_89583049_89713838	89677954	T T	TTATATAT others(33): Show TTATATATATATATGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03834.hp2 HG01361.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0151 a0001c0001t0001g0152	2	166	0.0120	40	c.-22 others(61): Show c.-221-21848_-221-21847insCATATATATATATATATATATATA TACATATATATATATA	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20			chr12	TogoVar
ATP2B3_chrX_153512642_153587929	153584573	A A	AAGGGAGG others(33): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0040 a0001c0003t0040	a0001c0003t0040g0090 a0001c0003t0040g0090	1	260	0.0038	40	c.42 others(51): Show c.4275_*4276insAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1645		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0088 a0001c0001t0005g0088	1	2	0.5000	40	c.42 others(51): Show c.4283_*4284insAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAG GGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	2	0.5000	40	c.42 others(51): Show c.4283_*4284insAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAG GGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 NA19084.hp1 HG02027.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0102 a0001c0002t0001g0004 a0001c0001t0001g0102 a0001c0002t0001g0004	2	3	0.6667	40	c.42 others(51): Show c.4283_*4284insAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAG GGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp2 HG01433.hp1 others(5): Show HG01361.hp1 HG01361.hp2 HG01433.hp1 HG02004.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013	a0001c0001t0002 a0001c0002t0002 a0001c0002t0015 others(2): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0015 a0001c0003t0002 a0001c0013t0002	a0001c0001t0002g0159 a0001c0001t0002g0175 a0001c0002t0002g0015 others(5): Show a0001c0001t0002g0159 a0001c0001t0002g0175 a0001c0002t0002g0015 a0001c0002t0002g0145 a0001c0002t0015g0015 a0001c0003t0002g0032 a0001c0003t0002g0033 a0001c0013t0002g0180	8	9	0.8889	40	c.42 others(51): Show c.4283_*4284insAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(33): Show AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG02976.hp1 HG03831.hp2 others(2): Show HG01975.hp1 HG02976.hp1 HG03831.hp2 NA18961.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0006 a0001c0002t0002 a0001c0002t0010 others(2): Show a0001c0001t0006 a0001c0002t0002 a0001c0002t0010 a0001c0002t0019 a0001c0003t0024	a0001c0001t0006g0066 a0001c0002t0002g0192 a0001c0002t0010g0093 others(2): Show a0001c0001t0006g0066 a0001c0002t0002g0192 a0001c0002t0010g0093 a0001c0002t0019g0144 a0001c0003t0024g0230	5	6	0.8333	40	c.42 others(51): Show c.4283_*4284insAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGGAGG others(33): Show AAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 NA18522.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0034 a0001c0003t0001g0035	2	3	0.6667	40	c.42 others(51): Show c.4283_*4284insAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGGAGG others(33): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG03486.hp2 NA18979.hp1 others(1): Show HG01943.hp1 HG03486.hp2 NA18979.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0006 a0001c0003t0045 a0001c0001t0002 a0001c0001t0006 a0001c0003t0045	a0001c0001t0002g0051 a0001c0001t0002g0068 a0001c0001t0006g0010 others(1): Show a0001c0001t0002g0051 a0001c0001t0002g0068 a0001c0001t0006g0010 a0001c0003t0045g0092	4	5	0.8000	40	c.42 others(51): Show c.4283_*4284insAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP5MC1_chr17_48887787_48900871	48890144	A A	AAAAAGAA others(33): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	153	0.0065	40	c.-27 others(51): Show c.-2776_-2775insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAG	ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding		2642		chr17	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737115	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02922.hp2 others(4): Show HG01891.hp2 HG02258.hp1 HG02922.hp2 HG03098.hp1 NA18970.hp2 NA18979.hp1 NA18983.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0005 a0001c0010 a0005c0006 others(1): Show a0001c0005 a0001c0010 a0005c0006 a0007c0017	a0001c0005t0004 a0001c0010t0002 a0005c0006t0001 others(1): Show a0001c0005t0004 a0001c0010t0002 a0005c0006t0001 a0007c0017t0001	a0001c0005t0004g0177 a0001c0010t0002g0363 a0005c0006t0001g0264 others(4): Show a0001c0005t0004g0177 a0001c0010t0002g0363 a0005c0006t0001g0264 a0005c0006t0001g0291 a0005c0006t0001g0332 a0007c0017t0001g0311 a0007c0017t0001g0353	7	119	0.0588	40	c.157 others(59): Show c.1572+2424_1572+2425insATATATATATATATATATATATATAT ATATATATATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21			chr7	TogoVar
ATP7A_chrX_77905693_78055395	77932271	G G	GGTTGCCA others(33): Show GGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGATGGGGCA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0020 a0001c0001t0021g0020	1	231	0.0043	40	c.-22 others(59): Show c.-22+21437_-22+21438insTTGCCAGGCAGAGGGTCTCCTCACTT CTCAGATGGGGCAG	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(33): Show CCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTCTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0068 a0001c0004t0068	a0001c0004t0068g0071 a0001c0004t0068g0071	1	36	0.0278	40	c.77- others(55): Show c.77-3226_77-3225insCCTCCCTCCCTCCCTCTCTCTCTCTCTCTC TCTCTTTCTC	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(33): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0087 a0001c0002t0003g0087	1	55	0.0182	40	c.318 others(61): Show c.3183+30096_3183+30097insTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57713189	T T	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0283 a0001c0001t0007g0283	1	312	0.0032	40	c.182 others(57): Show c.182-6603_182-6602insGAGAAAGAAAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713193	T T	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0101 a0001c0001t0008g0101	1	310	0.0032	40	c.182 others(57): Show c.182-6607_182-6606insGAGAAAGAAAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713196	T T	TTTCTTTC others(33): Show TTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0002 a0001c0001t0021g0002	1	180	0.0056	40	c.182 others(57): Show c.182-6610_182-6609insGGAAGGAAGGAAGGAAGGAAGGAAGGAA AGAAAGAAAGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713240	C C	CTTCCTTC others(33): Show CTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0263 a0001c0001t0007g0263	1	194	0.0052	40	c.182 others(57): Show c.182-6654_182-6653insAGAAAGAAAGAAAGAAAGAAGGAAGGAA GGAAGGAAGGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756192	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	142	0.0070	40	c.-25 others(59): Show c.-25-24361_-25-24360insATATATATATATATATATATATATAT ATATATATATATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B2_chr1_154320525_154356304	154348720	A A	AGGTGCTG others(33): Show AGGTGCTGTGGGTCGGAGGCCTCTGTGTCAGCCTGGTCCCG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0143 a0001c0004t0005g0143	1	368	0.0027	40	c.329 others(56): Show c.3295-106_3295-67dupGGAGGCCTCTGTGTCAGCCTGGTCCCGGG TGCTGTGGGTC	ATP8B2	ENSG00000143515.20	transcript	ENST00000368489.6	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP8B2_chr1_154320525_154356304	154349792	G G	GGAGTAAA others(33): Show GGAGTAAAGACCCATCAGTGTGCTGTATTCAGGAAACCCAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0137 a0001c0004t0021g0137	1	380	0.0026	40	c.67 others(49): Show c.674_*675insGAGTAAAGACCCATCAGTGTGCTGTATTCAGGAAAC CCAT	ATP8B2	ENSG00000143515.20	transcript	ENST00000368489.6	protein_coding	28/28	675		chr1	TogoVar
ATP9A_chr20_51591514_51773390	51635802	G G	GAGGAAGG others(33): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0144 a0001c0002t0004g0144	1	56	0.0179	40	c.166 others(59): Show c.1668+3540_1668+3541insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar

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