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
H2AC4_chr6_26028092_26038618	26031152	G G	GTATGTAT others(21): Show GTATGTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	406	0.0025	28	c.20 others(39): Show c.2023_*2024insTATATATATATATATATATATATACATA	H2AC4	ENSG00000278463.2	transcript	ENST00000615868.2	protein_coding		1939		chr6	TogoVar
H2AX_chr11_119088874_119100465	119089306	A A	AGTCTCTT others(21): Show AGTCTCTTGCTGGGACCCTAGTATGCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	430	0.0023	28	c.56 others(39): Show c.5629_*5656dupCTAGCATACTAGGGTCCCAGCAAGAGAC	H2AX	ENSG00000188486.4	transcript	ENST00000530167.2	protein_coding		4567		chr11	TogoVar
H2BK1_chr7_151202837_151215488	151206719	A A	AAGATAGA others(21): Show AAGATAGATAGATAGATAGATAGATAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02630.hp1 HG02965.hp2 others(6): Show HG00438.hp2 HG02630.hp1 HG02965.hp2 HG02976.hp1 HG03669.hp1 HG04184.hp1 NA18961.hp2 NA18974.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0001g0001 a0001c0001t0003g0002 a0001c0001t0003g0006	9	410	0.0220	28	c.11 others(39): Show c.1151_*1152insATCTATCTATCTATCTATCTATCTATCT	H2BK1	ENSG00000285480.2	transcript	ENST00000644661.2	protein_coding		1117		chr7	TogoVar
H3C2_chr6_26026589_26037099	26031152	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG01106.hp2 others(21): Show HG00323.hp1 HG00558.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01884.hp1 HG02155.hp2 HG02523.hp2 HG02572.hp1 HG02698.hp1 HG02886.hp1 HG02922.hp2 HG03225.hp2 HG03486.hp2 HG03927.hp1 HG03942.hp1 NA18522.hp1 NA18612.hp2 NA18945.hp1 NA18954.hp2 NA18982.hp2 NA19056.hp1 NA19081.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0001g0000 a0001c0001t0006g0000	24	396	0.0606	28	c.49 others(37): Show c.497_*498insTATATATATATATATATATATATATATA	H3C2	ENSG00000286522.2	transcript	ENST00000621411.3	protein_coding		436		chr6	TogoVar
H3C2_chr6_26026589_26037099	26031152	G G	GTATGTAT others(21): Show GTATGTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	396	0.0025	28	c.49 others(37): Show c.497_*498insTATATATATATATATATATATATACATA	H3C2	ENSG00000286522.2	transcript	ENST00000621411.3	protein_coding		436		chr6	TogoVar
H3Y2_chr5_17485967_17497076	17493385	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00642.hp1 HG01099.hp1 others(12): Show HG00544.hp1 HG00642.hp1 HG01099.hp1 HG02027.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02818.hp2 HG02976.hp2 HG03942.hp1 NA18939.hp2 NA18964.hp1 NA18998.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	15	400	0.0375	28	c.-16 others(39): Show c.-1618_-1617insATATATATATATATATATATATATATAT	H3Y2	ENSG00000268799.4	transcript	ENST00000600799.3	protein_coding		1310		chr5	TogoVar
H4C12_chr6_27826174_27836560	27832868	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	419	0.0024	28	c.-13 others(39): Show c.-1342_-1341insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	H4C12	ENSG00000273542.2	transcript	ENST00000611927.2	protein_coding		1309		chr6	TogoVar
H4C2_chr6_26021896_26032283	26031152	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG01106.hp1 others(22): Show HG00323.hp2 HG00558.hp1 HG01106.hp1 HG01109.hp2 HG01192.hp2 HG01884.hp1 HG02155.hp2 HG02523.hp1 HG02572.hp1 HG02698.hp1 HG02886.hp1 HG02922.hp2 HG03041.hp1 HG03225.hp2 HG03486.hp1 HG03927.hp2 HG03942.hp2 NA18522.hp1 NA18945.hp2 NA18954.hp2 NA18962.hp2 NA18982.hp2 NA19056.hp2 NA19081.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0007g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0007g0000 a0001c0002t0002g0000 a0001c0003t0001g0000	25	400	0.0625	28	c.-39 others(39): Show c.-3901_-3900insTATATATATATATATATATATATATATA	H4C2	ENSG00000278705.3	transcript	ENST00000377745.5	protein_coding		3870		chr6	TogoVar
H4C2_chr6_26021896_26032283	26031152	G G	GTATGTAT others(21): Show GTATGTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	400	0.0025	28	c.-39 others(39): Show c.-3901_-3900insTATATATATATATATATATATATACATA	H4C2	ENSG00000278705.3	transcript	ENST00000377745.5	protein_coding		3870		chr6	TogoVar
HAAO_chr2_42762089_42797583	42788643	A A	AAGAGGTC others(21): Show AAGAGGTCCCGTGGAGGAGACGTCGACAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	410	0.0024	28	c.81- others(39): Show c.81-37_81-36insCTGTCGACGTCTCCTCCACGGGACCTCT	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding	1/9			chr2	TogoVar
HACD2_chr3_123486554_123590053	123561551	T T	TCACATCT others(21): Show TCACATCTTACCAAGAGTATCTTCAGTTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01978.hp2 HG01081.hp1 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0041 a0001c0002t0001g0022 a0001c0002t0001g0041	2	350	0.0057	28	c.292 others(45): Show c.292+6183_292+6210dupGAACTGAAGATACTCTTGGTAAGATGTG	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	3/6			chr3	TogoVar
HACD2_chr3_123486554_123590053	123570917	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	350	0.0029	28	c.274 others(45): Show c.274-3138_274-3137insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	2/6			chr3	TogoVar
HACL1_chr3_15555699_15606569	15587301	T T	TAAATTTG others(21): Show TAAATTTGATCTAATAAACTATTATTTTC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0355 a0001c0002t0001g0355	1	428	0.0023	28	c.382 others(43): Show c.382-727_382-700dupGAAAATAATAGTTTATTAGATCAAATTT	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	5/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15592528	A A	ACATGTAT others(21): Show ACATGTATACACATGTACGCACATGTGTG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	428	0.0023	28	c.228 others(43): Show c.228-876_228-849dupCACACATGTGCGTACATGTGTATACATG	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15592530	A A	ATGTATAC others(21): Show ATGTATACACATGTACGCACATGTGTGCG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01071.hp1 others(21): Show HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01981.hp1 HG02109.hp2 HG02155.hp2 HG02165.hp2 HG03942.hp2 NA18906.hp2 NA18942.hp1 NA18947.hp2 NA18969.hp1 NA18978.hp2 NA18991.hp1 NA18991.hp2 NA19005.hp2 NA19054.hp1 NA19063.hp1 NA19063.hp2 NA19074.hp2 NA19081.hp2 NA20805.hp2 NA20905.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0013 a0001c0001 a0001c0002 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0008c0013t0001	a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0240 others(20): Show a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0327 a0001c0001t0002g0396 a0001c0001t0002g0400 a0001c0001t0002g0401 a0001c0001t0002g0405 a0001c0002t0001g0013 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0201 a0001c0002t0001g0325 a0001c0002t0001g0350 a0001c0002t0001g0368 a0001c0002t0001g0370 a0008c0013t0001g0243	24	428	0.0561	28	c.228 others(43): Show c.228-878_228-851dupCGCACACATGTGCGTACATGTGTATACA	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15592543	T T	TACGCACA others(21): Show TACGCACATGTGTGCGTGTATACACATGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	428	0.0023	28	c.228 others(43): Show c.228-864_228-863insGCATGTGTATACACGCACACATGTGCGT	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HAGH_chr16_1802629_1831825	1830915	T T	TCTACACA others(21): Show TCTACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0271 a0001c0001t0036g0271	1	436	0.0023	28	c.-41 others(39): Show c.-4129_-4128insGTGTGTGTGTGTGTGTGTGTGTGTGTAG	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding		4091		chr16	TogoVar
HAO1_chr20_7877985_7945458	7909360	C C	CATATATA others(21): Show CATATATATATATATATATGTATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02148.hp1 HG02300.hp1 HG01978.hp1 HG02148.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0092 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0092	3	348	0.0086	28	c.546 others(45): Show c.546-3059_546-3032dupATATATATACATATATATATATATATAT	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	3/7			chr20	TogoVar
HAO1_chr20_7877985_7945458	7936503	C C	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA18991.hp1 NA20129.hp1 HG00642.hp2 NA18991.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0215 a0001c0001t0001g0325 a0001c0001t0001g0067 a0001c0001t0001g0215 a0001c0001t0001g0325	3	348	0.0086	28	c.138 others(45): Show c.138-1896_138-1869dupACACACACACACACACACACACACACAC	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	1/7			chr20	TogoVar
HAO2_chr1_119363785_119399130	119389167	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	428	0.0023	28	c.771 others(45): Show c.771+2337_771+2338insTATATATATATATATATATATATATACA	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
HAO2_chr1_119363785_119399130	119394526	T T	TATATATA others(21): Show TATATATACATATGTACTCATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 NA18522.hp2 NA21309.hp1 HG02976.hp1 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0284 a0001c0004t0006g0285 a0001c0004t0006g0287 a0001c0004t0006g0284 a0001c0004t0006g0285 a0001c0004t0006g0287	3	428	0.0070	28	c.68 others(37): Show c.686_*687insATATATACATATGTACTCATATATATAC	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding		397		chr1	TogoVar
HAO2_chr1_119363785_119399130	119394614	C C	CATATATA others(21): Show CATATATATATACTCATATGTATATACTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	428	0.0023	28	c.77 others(37): Show c.774_*775insATATATATATACTCATATGTATATACTT	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding		485		chr1	TogoVar
HAP1_chr17_41717640_41739643	41737065	G G	GAGGGAGG others(21): Show GAGGGAGGAAGAAAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02135.hp1 HG02559.hp2 others(5): Show HG02080.hp2 HG02135.hp1 HG02559.hp2 HG03209.hp2 NA18983.hp2 NA19010.hp1 NA19060.hp2 NA20129.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0008	a0001c0001 a0001c0048 a0003c0003 others(2): Show a0001c0001 a0001c0048 a0003c0003 a0007c0007 a0008c0008	a0001c0001t0001 a0001c0048t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0048t0001 a0003c0003t0001 a0007c0007t0001 a0008c0008t0002	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0234 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0234 a0001c0001t0001g0264 a0001c0048t0001g0249 a0003c0003t0001g0242 a0007c0007t0001g0321 a0008c0008t0002g0342	8	374	0.0214	28	c.-24 others(39): Show c.-2432_-2431insTCCTTCCTTCCTTCCTTTCTTCCTCCCT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding		2423		chr17	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	326	0.0031	28	c.975 others(45): Show c.975+1250_975+1251insATATATATATATATATATATTTTTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAUS2_chr15_42543838_42574994	42544840	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0143 a0001c0001t0027g0143	1	350	0.0029	28	c.-40 others(39): Show c.-4033_-4032insTATATATATATATATATATATATATATA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding		3997		chr15	TogoVar
HAUS2_chr15_42543838_42574994	42544842	C C	CACAATAT others(21): Show CACAATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02976.hp1 HG02451.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0007	2	350	0.0057	28	c.-40 others(39): Show c.-4031_-4030insACAATATATATATATATATATATATATA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding		3995		chr15	TogoVar
HAVCR1_chr5_157024413_157064116	157044603	G G	GAAAGAAA others(21): Show GAAAGAAAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA19012.hp2 HG02148.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0181 a0001c0001t0001g0161 a0001c0001t0001g0181	2	352	0.0057	28	c.782 others(45): Show c.782-1922_782-1921insTTCTTTCTTTCTTTCTTTCTCTTTCTTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044615	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02970.hp1 HG03130.hp2 HG02897.hp1 HG02970.hp1 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0200 a0002c0002t0001g0202 a0002c0002t0001g0203	3	352	0.0085	28	c.782 others(45): Show c.782-1934_782-1933insTTCTTTCTTTTTCTTTCTTTCTTTCTTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044615	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAGAAAAAGAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18906.hp1 HG02451.hp2 NA18906.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0338 a0005c0008t0001g0340 a0005c0008t0001g0338 a0005c0008t0001g0340	2	352	0.0057	28	c.782 others(45): Show c.782-1934_782-1933insTTCTTTTTCTTTCTTTCTTTCTTTCTTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044615	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG04204.hp2 HG03490.hp1 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0240 a0002c0002t0001g0221 a0002c0002t0001g0240	2	352	0.0057	28	c.782 others(45): Show c.782-1934_782-1933insTTCTCTTTCTTTCTTTCTTTCTTTCTTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044615	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0257 a0002c0002t0001g0257	1	352	0.0028	28	c.782 others(45): Show c.782-1934_782-1933insTTCTTTCTCTTTCTTTCTTTCTTTCTTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157057386	G G	GAGAGAGA others(21): Show GAGAGAGAGAGAGGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp1 HG03453.hp1 others(1): Show HG02258.hp2 HG03130.hp1 HG03453.hp1 NA18906.hp1	a0003 a0005 a0003 a0005	a0003c0004 a0005c0008 a0003c0004 a0005c0008	a0003c0004t0001 a0005c0008t0001 a0003c0004t0001 a0005c0008t0001	a0003c0004t0001g0339 a0005c0008t0001g0340 a0005c0008t0001g0341 others(1): Show a0003c0004t0001g0339 a0005c0008t0001g0340 a0005c0008t0001g0341 a0005c0008t0001g0342	4	352	0.0114	28	c.46+ others(41): Show c.46+511_46+512insTTTCTTTCTTTCTTTCCTCTCTCTCTCT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	2/8			chr5	TogoVar
HAX1_chr1_154267629_154280875	154277309	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	392	0.0026	28	c.16 others(39): Show c.1608_*1609insATATATATATATATATATATATATATAT	HAX1	ENSG00000143575.16	transcript	ENST00000328703.12	protein_coding		1435		chr1	TogoVar
HBA1_chr16_171680_182522	181982	C C	CCACACAC others(21): Show CCACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01175.hp1 HG01255.hp2 others(19): Show HG00673.hp2 HG01175.hp1 HG01255.hp2 HG02559.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03579.hp1 HG04199.hp2 NA18747.hp2 NA18906.hp2 NA18956.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18971.hp1 NA18980.hp2 NA18987.hp2 NA18998.hp1 NA19000.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	22	398	0.0553	28	c.45 others(39): Show c.4571_*4572insCACACACACACACACACACACACACACA	HBA1	ENSG00000206172.8	transcript	ENST00000320868.9	protein_coding		4461		chr16	TogoVar
HBM_chr16_160978_171764	164875	C C	CGGGGTCG others(21): Show CGGGGTCGCGGGGCGGGGCGGGCCGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0001 a0001c0001t0001g0001 a0001c0002t0001g0001	3	370	0.0081	28	c.-11 others(39): Show c.-1123_-1122insGGGGTCGCGGGGCGGGGCGGGCCGGGCA	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1102		chr16	TogoVar
HBQ1_chr16_175459_186179	181982	C C	CCACACAC others(21): Show CCACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01175.hp1 HG01255.hp2 others(20): Show HG00673.hp1 HG01175.hp1 HG01255.hp2 HG02080.hp2 HG02559.hp2 HG02647.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03579.hp1 HG04199.hp1 NA18747.hp1 NA18906.hp2 NA18956.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18971.hp1 NA18980.hp1 NA18998.hp1 NA19000.hp2 NA19054.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0002g0001 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0002t0001g0001	23	384	0.0599	28	c.87 others(37): Show c.874_*875insCACACACACACACACACACACACACACA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		804		chr16	TogoVar
HBZ_chr16_147644_159503	154177	G G	GGCGGGGC others(21): Show GGCGGGGCGGTGCGGGGCGGGGCGGGGTC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	432	0.0023	28	c.300 others(41): Show c.300+87_300+88insCGGTGCGGGGCGGGGCGGGGTCGCGGGG	HBZ	ENSG00000130656.6	transcript	ENST00000252951.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
HCAR2_chr12_122696293_122708357	122698100	C C	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0000 a0002c0005t0001g0000	1	428	0.0023	28	c.40 others(39): Show c.4091_*4092insAAAAGAAAGAAAGAAAGAAAGAAAGAAA	HCAR2	ENSG00000182782.8	transcript	ENST00000328880.6	protein_coding		3192		chr12	TogoVar
HCK_chr20_32047242_32106856	32094795	A A	AAGAAGGA others(21): Show AAGAAGGAAAGAAAGAAAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	290	0.0035	28	c.124 others(45): Show c.1246+783_1246+784insGGAAAGAAAGAAAGAGAGAGAAAGAGAA	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
HCN1_chr5_45249948_45701380	45372071	A A	ATTATATA others(21): Show ATTATATATAATATAATTATATATATATT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	226	0.0044	28	c.123 others(49): Show c.1231-18853_1231-18826dupAATATATATATAATTATATTATAT ATAA	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN2_chr19_584881_622159	602095	T T	TCCTCCTC others(21): Show TCCTCCTCTCCTGCGTGGACGCCCCACTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00544.hp1 others(58): Show HG00280.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02083.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02280.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02922.hp1 HG02965.hp1 HG03139.hp2 HG03471.hp2 HG03579.hp1 HG03688.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18960.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18979.hp1 NA18990.hp1 NA18990.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp2 NA19063.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19083.hp1 NA19085.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0012 a0014 a0023 a0029 a0034	a0001c0001 a0001c0002 a0001c0003 others(31): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0017 a0001c0018 a0001c0040 a0001c0041 a0001c0043 a0001c0046 a0001c0102 a0001c0127 a0002c0011 a0002c0020 a0002c0035 a0002c0067 a0002c0070 a0002c0071 a0002c0072 a0002c0075 a0002c0079 a0003c0062 a0004c0140 a0004c0143 a0005c0053 a0007c0027 a0007c0107 a0008c0047 a0009c0152 a0012c0125 a0014c0074 a0023c0055 a0029c0069 a0034c0094	a0001c0001t0001 a0001c0002t0003 a0001c0003t0001 others(37): Show a0001c0001t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0005t0001 a0001c0005t0002 a0001c0017t0003 a0001c0018t0004 a0001c0040t0001 a0001c0041t0003 a0001c0043t0008 a0001c0046t0001 a0001c0102t0009 a0001c0127t0006 a0002c0011t0001 a0002c0011t0002 a0002c0020t0003 a0002c0020t0019 a0002c0035t0001 a0002c0035t0024 a0002c0067t0002 a0002c0070t0001 a0002c0071t0002 a0002c0072t0004 a0002c0075t0002 a0002c0079t0005 a0003c0062t0001 a0004c0140t0001 a0004c0143t0004 a0005c0053t0001 a0007c0027t0002 a0007c0027t0004 a0007c0107t0003 a0008c0047t0003 a0009c0152t0001 a0012c0125t0006 a0014c0074t0001 a0023c0055t0004 a0029c0069t0001 a0034c0094t0004	a0001c0001t0001g0188 a0001c0002t0003g0078 a0001c0003t0001g0090 others(57): Show a0001c0001t0001g0188 a0001c0002t0003g0078 a0001c0003t0001g0090 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0231 a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0003t0002g0179 a0001c0003t0002g0192 a0001c0003t0002g0203 a0001c0003t0002g0205 a0001c0003t0002g0232 a0001c0005t0001g0066 a0001c0005t0001g0088 a0001c0005t0001g0165 a0001c0005t0001g0189 a0001c0005t0001g0190 a0001c0005t0001g0193 a0001c0005t0001g0194 a0001c0005t0001g0212 a0001c0005t0002g0086 a0001c0017t0003g0115 a0001c0018t0004g0023 a0001c0040t0001g0153 a0001c0040t0001g0202 a0001c0041t0003g0191 a0001c0041t0003g0195 a0001c0043t0008g0112 a0001c0046t0001g0056 a0001c0102t0009g0097 a0001c0127t0006g0042 a0002c0011t0001g0253 a0002c0011t0001g0262 a0002c0011t0002g0266 a0002c0020t0003g0268 a0002c0020t0019g0269 a0002c0035t0001g0267 a0002c0035t0024g0288 a0002c0067t0002g0361 a0002c0070t0001g0305 a0002c0071t0002g0300 a0002c0072t0004g0250 a0002c0075t0002g0260 a0002c0079t0005g0343 a0003c0062t0001g0230 a0004c0140t0001g0243 a0004c0143t0004g0017 a0005c0053t0001g0048 a0007c0027t0002g0103 a0007c0027t0002g0105 a0007c0027t0004g0104 a0007c0107t0003g0106 a0008c0047t0003g0002 a0009c0152t0001g0320 a0012c0125t0006g0046 a0014c0074t0001g0286 a0023c0055t0004g0102 a0029c0069t0001g0287 a0034c0094t0004g0368	61	408	0.1495	28	c.633 others(45): Show c.633-1444_633-1443insTCTCCTGCGTGGACGCCCCACTCCCTCC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602139	C C	CCTCCTGC others(21): Show CCTCCTGCGTGGACGCCCCACTTCCTCCT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	408	0.0025	28	c.633 others(45): Show c.633-1383_633-1356dupTCCTCCTCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602200	C C	CCTCCTGC others(21): Show CCTCCTGCGTGGACGCCCCACTTCCTCCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0107 a0001c0007t0002g0107	1	408	0.0025	28	c.633 others(45): Show c.633-1323_633-1322insTCCTCCTCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602233	C C	CCTCCTGC others(21): Show CCTCCTGCGTGGACGCCCCACTTCCTCCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0068 a0002c0068	a0002c0068t0011 a0002c0068t0011	a0002c0068t0011g0360 a0002c0068t0011g0360	1	408	0.0025	28	c.633 others(45): Show c.633-1290_633-1289insTCCTCCTCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602266	C C	CCTCCTGC others(21): Show CCTCCTGCGTGGACGCCCCACTTCCTCCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02809.hp1 others(2): Show HG01256.hp1 HG01258.hp2 HG02809.hp1 HG03041.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0007 a0002c0036 others(1): Show a0001c0003 a0001c0007 a0002c0036 a0002c0081	a0001c0003t0006 a0001c0007t0002 a0002c0036t0001 others(1): Show a0001c0003t0006 a0001c0007t0002 a0002c0036t0001 a0002c0081t0004	a0001c0003t0006g0201 a0001c0007t0002g0020 a0002c0036t0001g0008 others(1): Show a0001c0003t0006g0201 a0001c0007t0002g0020 a0002c0036t0001g0008 a0002c0081t0004g0362	5	408	0.0123	28	c.633 others(45): Show c.633-1257_633-1256insTCCTCCTCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602393	C C	CCTCCTGC others(21): Show CCTCCTGCGTGGACGCCCCACTTCCTCCT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0004 a0004	a0004c0144 a0004c0144	a0004c0144t0001 a0004c0144t0001	a0004c0144t0001g0119 a0004c0144t0001g0119	1	408	0.0025	28	c.633 others(45): Show c.633-1147_633-1120dupCTGCGTGGACGCCCCACTTCCTCCTCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN3_chr1_155272463_155294848	155283784	A A	AAGAAACT others(21): Show AAGAAACTGCTTTGCATTAGCTATACATG	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0002 a0013c0018t0002	a0013c0018t0002g0054 a0013c0018t0002g0054	1	339	0.0030	28	c.709 others(43): Show c.709-189_709-162dupAGAAACTGCTTTGCATTAGCTATACATG	HCN3	ENSG00000143630.10	transcript	ENST00000368358.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
HCN4_chr15_73314859_73373958	73316252	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01123.hp1 HG02258.hp1 others(4): Show HG00609.hp1 HG01123.hp1 HG02258.hp1 HG02523.hp1 NA18939.hp1 NA18967.hp1 NA19077.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0015c0022 a0001c0001 a0015c0022	a0001c0001t0001 a0001c0001t0002 a0015c0022t0002 a0001c0001t0001 a0001c0001t0002 a0015c0022t0002	a0001c0001t0001g0061 a0001c0001t0002g0168 a0001c0001t0002g0188 others(4): Show a0001c0001t0001g0061 a0001c0001t0002g0168 a0001c0001t0002g0188 a0001c0001t0002g0195 a0001c0001t0002g0201 a0001c0001t0002g0250 a0015c0022t0002g0107	7	344	0.0204	28	c.62 others(39): Show c.6228_*6229insATATATATATATATATATATATATATAT	HCN4	ENSG00000138622.4	transcript	ENST00000261917.4	protein_coding		3606		chr15	TogoVar
HCRTR2_chr6_55169515_55287617	55226711	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02896.hp2 HG01069.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0187 a0001c0001t0001g0188	2	368	0.0054	28	c.224 others(47): Show c.224-21904_224-21903insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
HCRTR2_chr6_55169515_55287617	55274255	A A	AATGAAAT others(21): Show AATGAAATATATATACTTATACATATATT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	368	0.0027	28	c.763 others(45): Show c.763-3125_763-3124insATGAAATATATATACTTATACATATATT	HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	4/6			chr6	TogoVar

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