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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GUCY1A2_chr11_106669019_107023476	106794155	GAAATATT others(18): Show GAAATATTCAGCCATAATAAAGAACA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	254	0.0039	-25	c.169 others(46): Show c.1692+15813_1692+15837delTGTTCTTTATTATGGCTGAATATT T		GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	5/7						chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	107015561	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0190 a0001c0004t0001g0190	1	7	0.1429	-25	c.303 others(42): Show c.303+2167_303+2191delTTTTTTTTTTTTTTTTTTTTTTTTT		GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	1/7						chr11	TogoVar
GYPA_chr4_144104303_144145718	144123451	CTTTTATT others(18): Show CTTTTATTTTATTTTATTTTATTTTA	C C	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	32	0.0313	-25	c.38- others(40): Show c.38-2888_38-2864delTAAAATAAAATAAAATAAAATAAAA		GYPA	ENSG00000170180.22	transcript	ENST00000641688.3	protein_coding	1/6						chr4	TogoVar
GYPB_chr4_143991104_144024380	144009394	ATTTGTGG others(18): Show ATTTGTGGGCCACAACTACTTTAGGC	A A	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	432	0.0023	-25	c.38- others(40): Show c.38-8136_38-8112delGCCTAAAGTAGTTGTGGCCCACAAA		GYPB	ENSG00000250361.10	transcript	ENST00000502664.6	protein_coding	1/4						chr4	TogoVar
H1-8_chr3_129538175_129556467	129540495	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02897.hp1 HG03453.hp2 others(1): Show HG02630.hp2 HG02897.hp1 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0009 a0001c0005t0001g0009	4	407	0.0098	-25	c.-27 others(36): Show c.-2723_-2699delATATATATATATATATATATATATA		H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding					2679		chr3	TogoVar
H2AC18_chr1_149837218_149847750	149842092	CCCCGCCC others(18): Show CCCCGCCCCGCCCCGTCCCGTCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0000 a0001c0002t0003g0000	1	309	0.0032	-25	c.18 others(34): Show c.189_*213delACGGGACGGGACGGGGCGGGGCGGG		H2AC18	ENSG00000288825.1	transcript	ENST00000369159.3	protein_coding					125		chr1	TogoVar
H2AC18_chr1_149837218_149847750	149842097	CCCCGCCC others(18): Show CCCCGCCCCGTCCCGTCCCGTCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	280	0.0036	-25	c.18 others(34): Show c.184_*208delACGGGACGGGACGGGACGGGGCGGG		H2AC18	ENSG00000288825.1	transcript	ENST00000369159.3	protein_coding					120		chr1	TogoVar
H2AC18_chr1_149837218_149847750	149842102	CCCCGTCC others(18): Show CCCCGTCCCGTCCCGTCCCGTCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	178	0.0056	-25	c.17 others(34): Show c.179_*203delACGGGACGGGACGGGACGGGACGGG		H2AC18	ENSG00000288825.1	transcript	ENST00000369159.3	protein_coding					115		chr1	TogoVar
H2AC19_chr1_149846061_149856594	149851673	TGACGGGA others(18): Show TGACGGGACGGGACGGGACGGGACGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01346.hp2 HG01884.hp2 others(1): Show HG01099.hp2 HG01346.hp2 HG01884.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	184	0.0217	-25	c.16 others(34): Show c.168_*192delGACGGGACGGGACGGGACGGGACGG		H2AC19	ENSG00000288859.1	transcript	ENST00000607355.3	protein_coding					80		chr1	TogoVar
H2AC19_chr1_149846061_149856594	149851685	ACGGGACG others(18): Show ACGGGACGGGACGGGACGGGACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	327	0.0031	-25	c.18 others(34): Show c.180_*204delCGGGACGGGACGGGACGGGACGGGG		H2AC19	ENSG00000288859.1	transcript	ENST00000607355.3	protein_coding					92		chr1	TogoVar
H2AC19_chr1_149846061_149856594	149851690	ACGGGACG others(18): Show ACGGGACGGGACGGGACGGGGCGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0000 a0001c0002t0003g0000	1	312	0.0032	-25	c.18 others(34): Show c.185_*209delCGGGACGGGACGGGACGGGGCGGGG		H2AC19	ENSG00000288859.1	transcript	ENST00000607355.3	protein_coding					97		chr1	TogoVar
H2BC17_chr6_27888425_27898891	27898708	TTGGGAAA others(18): Show TTGGGAAATAGCAAATGCACAGAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	410	0.0024	-25	c.48 others(36): Show c.4866_*4890delTGGGAAATAGCAAATGCACAGAGAG		H2BC17	ENSG00000274641.2	transcript	ENST00000616182.2	protein_coding					4818		chr6	TogoVar
H3C11_chr6_27866845_27877346	27876576	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	13	0.0769	-25	c.-42 others(36): Show c.-4286_-4262delTTTTTTTTTTTTTTTTTTTTTTTTT		H3C11	ENSG00000275379.2	transcript	ENST00000616365.2	protein_coding					4231		chr6	TogoVar
H3C14_chr1_149835687_149846208	149842092	CCCCGCCC others(18): Show CCCCGCCCCGCCCCGTCCCGTCCCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	291	0.0034	-25	c.-96 others(34): Show c.-960_-936delACGGGACGGGACGGGGCGGGGCGGG		H3C14	ENSG00000203811.2	transcript	ENST00000369158.2	protein_coding					885		chr1	TogoVar
H3C14_chr1_149835687_149846208	149842097	CCCCGCCC others(18): Show CCCCGCCCCGTCCCGTCCCGTCCCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	264	0.0038	-25	c.-96 others(34): Show c.-965_-941delACGGGACGGGACGGGACGGGGCGGG		H3C14	ENSG00000203811.2	transcript	ENST00000369158.2	protein_coding					890		chr1	TogoVar
H3C14_chr1_149835687_149846208	149842102	CCCCGTCC others(18): Show CCCCGTCCCGTCCCGTCCCGTCCCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	163	0.0061	-25	c.-97 others(34): Show c.-970_-946delACGGGACGGGACGGGACGGGACGGG		H3C14	ENSG00000203811.2	transcript	ENST00000369158.2	protein_coding					895		chr1	TogoVar
H3C15_chr1_149847608_149858125	149851673	TGACGGGA others(18): Show TGACGGGACGGGACGGGACGGGACGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01123.hp1 HG01346.hp2 others(2): Show HG01099.hp2 HG01123.hp1 HG01346.hp2 HG01884.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	188	0.0266	-25	c.-98 others(34): Show c.-981_-957delGACGGGACGGGACGGGACGGGACGG		H3C15	ENSG00000203852.4	transcript	ENST00000403683.2	protein_coding					934		chr1	TogoVar
H3C15_chr1_149847608_149858125	149851685	ACGGGACG others(18): Show ACGGGACGGGACGGGACGGGACGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01243.hp2 HG01123.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	331	0.0060	-25	c.-96 others(34): Show c.-969_-945delCGGGACGGGACGGGACGGGACGGGG		H3C15	ENSG00000203852.4	transcript	ENST00000403683.2	protein_coding					922		chr1	TogoVar
H3C15_chr1_149847608_149858125	149851690	ACGGGACG others(18): Show ACGGGACGGGACGGGACGGGGCGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	315	0.0032	-25	c.-96 others(34): Show c.-964_-940delCGGGACGGGACGGGACGGGGCGGGG		H3C15	ENSG00000203852.4	transcript	ENST00000403683.2	protein_coding					917		chr1	TogoVar
H4C13_chr6_27868148_27878534	27876576	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	13	0.0769	-25	c.-30 others(36): Show c.-3091_-3067delTTTTTTTTTTTTTTTTTTTTTTTTT		H4C13	ENSG00000275126.2	transcript	ENST00000618305.2	protein_coding					3043		chr6	TogoVar
H4C15_chr1_149855764_149866159	149865945	AAAAAAGA others(18): Show AAAAAAGAAAGAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	206	0.0049	-25	c.-48 others(36): Show c.-4839_-4815delCTTTCTTTCTTTCTTCTTTCTTTTT		H4C15	ENSG00000270276.3	transcript	ENST00000579512.3	protein_coding					4787		chr1	TogoVar
H4C9_chr6_27134282_27144678	27141536	TAGTAGAT others(18): Show TAGTAGATAGATAAGCCATCACAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	389	0.0026	-25	c.19 others(36): Show c.1917_*1941delAGTAGATAGATAAGCCATCACAGAG		H4C9	ENSG00000276180.2	transcript	ENST00000615353.2	protein_coding					1859		chr6	TogoVar
HACD3_chr15_65525463_65583349	65537947	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG01167.hp2 others(5): Show HG00735.hp1 HG01109.hp1 HG01167.hp2 HG01516.hp2 HG01891.hp1 NA19030.hp1 NA19060.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0096 a0001c0001t0001g0101 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0139 a0001c0001t0001g0177 a0001c0001t0005g0266	8	310	0.0258	-25	c.87+ others(40): Show c.87+7231_87+7255delAAAAAAAAAAATATATATATATATA		HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537949	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02004.hp2 HG02896.hp2 others(8): Show HG00408.hp1 HG02004.hp2 HG02896.hp2 HG02897.hp2 NA18941.hp2 NA18949.hp2 NA18965.hp1 NA18990.hp2 NA19001.hp1 NA19002.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0063 a0001c0001t0001g0099 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0167 a0001c0001t0012g0040 a0001c0001t0012g0041	11	259	0.0425	-25	c.87+ others(40): Show c.87+7233_87+7257delAAAAAAAAATATATATATATATATA		HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537951	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02109.hp1 HG02486.hp2 others(4): Show HG00323.hp2 HG02109.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG03831.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0002	a0001c0001t0001g0075 a0001c0001t0001g0103 a0001c0001t0002g0004 others(4): Show a0001c0001t0001g0075 a0001c0001t0001g0103 a0001c0001t0002g0004 a0001c0001t0002g0199 a0001c0001t0002g0215 a0001c0001t0011g0158 a0001c0002t0002g0025	7	316	0.0222	-25	c.87+ others(40): Show c.87+7235_87+7259delAAAAAAATATATATATATATATATA		HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537953	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01934.hp1 HG02145.hp2 others(17): Show HG01515.hp1 HG01934.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02723.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA19030.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0018 a0001c0001t0002 a0001c0002t0018	a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0027 others(16): Show a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0181 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0002t0018g0029	20	321	0.0623	-25	c.87+ others(40): Show c.87+7237_87+7261delAAAAATATATATATATATATATATA		HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537955	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02258.hp2 HG02809.hp1 others(1): Show HG01993.hp1 HG02258.hp2 HG02809.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0190 a0001c0001t0002g0196 others(1): Show a0001c0001t0002g0030 a0001c0001t0002g0190 a0001c0001t0002g0196 a0001c0001t0002g0209	4	325	0.0123	-25	c.87+ others(40): Show c.87+7239_87+7263delAAATATATATATATATATATATATA		HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
HAGH_chr16_1802629_1831825	1817170	TGTCCGGG others(18): Show TGTCCGGGGGGAGCCGGCCCAAGACC	T T	frameshift_variant frameshift_variant	HIGH	NA18968.hp2 NA18968.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0005 a0009c0013t0005	a0009c0013t0005g0274 a0009c0013t0005g0274	1	434	0.0023	-25	c.618 others(32): Show c.618_642delGGTCTTGGGCCGGCTCCCCCCGGAC	p.Val others(5): Show p.Val207fs	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding	6/9	680/2619	618/927	206/308			chr16	TogoVar
HARS2_chr5_140686455_140704305	140699857	ATGCTGAT others(18): Show ATGCTGATTAAATTATGTTCTACTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	382	0.0026	-25	c.13 others(36): Show c.1306_*1330delTGCTGATTAAATTATGTTCTACTAT		HARS2	ENSG00000112855.17	transcript	ENST00000230771.9	protein_coding					553		chr5	TogoVar
HAUS5_chr19_35607735_35630355	35617481	GGACTTCC others(18): Show GGACTTCCAGGCTGGGAATAGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0059 a0010c0016t0001g0059	1	428	0.0023	-25	c.638 others(40): Show c.638+116_638+140delTTCCAGGCTGGGAATAGAAGGAGAC		HAUS5	ENSG00000249115.9	transcript	ENST00000203166.10	protein_coding	8/18					INFO_REALIGN_3_PRIME	chr19	TogoVar
HAUS8_chr19_17044729_17080452	17055142	AAATATAT others(18): Show AAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0230 a0002c0001t0002g0230	1	374	0.0027	-25	c.787 others(40): Show c.787+694_787+718delATATATATATATATATATATATATT		HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10						chr19	TogoVar
HAUS8_chr19_17044729_17080452	17055144	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0211 a0002c0001t0001g0211	1	319	0.0031	-25	c.787 others(40): Show c.787+692_787+716delATATATATATATATATATATATATA		HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10						chr19	TogoVar
HBM_chr16_160978_171764	164917	TCGCGGGG others(18): Show TCGCGGGGCGGGGTCGCGGGGCGGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA19087.hp2 NA21309.hp2 NA18945.hp2 NA19087.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0001 a0001c0005t0001g0001 a0001c0001t0001g0001 a0001c0005t0001g0001	3	368	0.0082	-25	c.-10 others(36): Show c.-1080_-1056delCGCGGGGCGGGGTCGCGGGGCGGGG		HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding					1060		chr16	TogoVar
HBZ_chr16_147644_159503	154183	GAGGGGCG others(18): Show GAGGGGCGGGGTCGCGGGGCGGATGC	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03098.hp1 HG03486.hp2 HG02074.hp1 HG03098.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0019 a0001c0001t0001g0038	3	432	0.0069	-25	c.300 others(38): Show c.300+88_301-64delAGGGGCGGGGTCGCGGGGCGGATGC		HBZ	ENSG00000130656.6	transcript	ENST00000252951.3	protein_coding	2/2						chr16	TogoVar
HCK_chr20_32047242_32106856	32054475	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0207 a0001c0001t0001g0208	2	33	0.0606	-25	c.62+ others(40): Show c.62+2014_62+2038delAAAAAAAAAAAAAAAAAAAAAAAAA		HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
HCN1_chr5_45249948_45701380	45372440	TATATAAA others(18): Show TATATAAAAATATATAAAACATTTAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG00735.hp2 others(14): Show HG00280.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG02132.hp2 HG02738.hp2 HG02965.hp1 HG03704.hp2 HG03710.hp1 NA18945.hp1 NA18953.hp1 NA18961.hp2 NA18962.hp1 NA18992.hp1 NA18993.hp2 NA19011.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0013 a0001c0001t0001g0040 a0001c0001t0001g0134 others(14): Show a0001c0001t0001g0013 a0001c0001t0001g0040 a0001c0001t0001g0134 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0002g0100 a0001c0001t0002g0142 a0001c0001t0002g0149 a0001c0001t0002g0182 a0001c0001t0003g0120 a0001c0001t0011g0155 a0001c0001t0011g0156	17	212	0.0802	-25	c.123 others(46): Show c.1231-19219_1231-19195delGTAAATGTTTTATATATTTTTATA T		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7						chr5	TogoVar
HDAC1_chr1_32287083_32338626	32309674	GAGTCTCA others(18): Show GAGTCTCAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01261.hp1 HG01070.hp1 HG01071.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022	3	144	0.0208	-25	c.162 others(42): Show c.162+6943_163-6965delGTCTCAAAAAAAAAAAAAAAAAAAA		HDAC1	ENSG00000116478.12	transcript	ENST00000373548.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
HDAC9_chr7_18490749_19007416	18985729	CTGTTGTT others(18): Show CTGTTGTTTCCTGACTTTTTAGTGAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0006 a0001c0003t0005g0006	1	154	0.0065	-25	c.317 others(44): Show c.3170+9777_3170+9801delTGTTGTTTCCTGACTTTTTAGTGAT		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	25/25						chr7	TogoVar
HEATR4_chr14_73473484_73563947	73477070	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03195.hp2 HG03130.hp2 HG03195.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0003 a0007c0010t0003	a0007c0010t0003g0008 a0007c0010t0003g0008	2	364	0.0055	-25	c.15 others(36): Show c.1511_*1535delATATATATATATATATATATATATA		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding					1413		chr14	TogoVar
HEATR4_chr14_73473484_73563947	73477072	ATATATAT others(18): Show ATATATATATATATATATATATATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0147 a0001c0004t0006g0147	1	358	0.0028	-25	c.15 others(36): Show c.1509_*1533delAAATATATATATATATATATATATA		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding					1411		chr14	TogoVar
HEATR4_chr14_73473484_73563947	73477076	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG03130.hp1 HG03471.hp1 others(2): Show HG02572.hp2 HG03130.hp1 HG03471.hp1 NA18522.hp2 NA18906.hp1	a0003 a0009 a0010 a0003 a0009 a0010	a0003c0007 a0009c0015 a0010c0024 others(1): Show a0003c0007 a0009c0015 a0010c0024 a0010c0028	a0003c0007t0003 a0009c0015t0001 a0009c0015t0008 others(2): Show a0003c0007t0003 a0009c0015t0001 a0009c0015t0008 a0010c0024t0003 a0010c0028t0003	a0003c0007t0003g0154 a0009c0015t0001g0034 a0009c0015t0008g0354 others(2): Show a0003c0007t0003g0154 a0009c0015t0001g0034 a0009c0015t0008g0354 a0010c0024t0003g0213 a0010c0028t0003g0215	5	362	0.0138	-25	c.15 others(36): Show c.1505_*1529delAAAAAAATATATATATATATATATA		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding					1407		chr14	TogoVar
HEATR4_chr14_73473484_73563947	73477078	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	363	0.0028	-25	c.15 others(36): Show c.1503_*1527delAAAAAAAAATATATATATATATATA		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding					1405		chr14	TogoVar
HEATR4_chr14_73473484_73563947	73477080	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00673.hp2 HG00738.hp1 others(12): Show HG00408.hp2 HG00673.hp2 HG00738.hp1 HG02040.hp2 HG02080.hp2 HG02135.hp2 HG02523.hp1 NA18954.hp1 NA18975.hp2 NA18978.hp1 NA18984.hp1 NA18986.hp2 NA19000.hp1 NA19088.hp2 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0012 a0001c0001 a0001c0003 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0004c0012t0004	a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0074 others(12): Show a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0002g0292 a0001c0003t0003g0219 a0004c0012t0004g0164	15	364	0.0412	-25	c.15 others(36): Show c.1501_*1525delAAAAAAAAAAATATATATATATATA		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding					1403		chr14	TogoVar
HEATR4_chr14_73473484_73563947	73477082	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18998.hp2 NA19056.hp2 others(1): Show NA18971.hp1 NA18998.hp2 NA19056.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0027 a0001c0001t0001g0072 a0001c0001t0003g0222 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0072 a0001c0001t0003g0222 a0001c0001t0003g0223	4	351	0.0114	-25	c.14 others(36): Show c.1499_*1523delAAAAAAAAAAAAATATATATATATA		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding					1401		chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31288782	CCTAATAC others(18): Show CCTAATACCATAAAAAGTAGCCCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG02970.hp2 others(3): Show HG02630.hp1 HG02723.hp1 HG02970.hp2 HG03225.hp1 HG06807.hp1 NA18522.hp1	a0003 a0004 a0025 a0003 a0004 a0025	a0003c0003 a0004c0004 a0025c0032 a0003c0003 a0004c0004 a0025c0032	a0003c0003t0001 a0004c0004t0001 a0025c0032t0001 a0003c0003t0001 a0004c0004t0001 a0025c0032t0001	a0003c0003t0001g0215 a0004c0004t0001g0018 a0004c0004t0001g0019 others(3): Show a0003c0003t0001g0215 a0004c0004t0001g0018 a0004c0004t0001g0019 a0004c0004t0001g0020 a0004c0004t0001g0021 a0025c0032t0001g0255	6	354	0.0169	-25	c.44 others(36): Show c.4498_*4522delCCTGGGCTACTTTTTATGGTATTAG		HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding					3005		chr14	TogoVar
HECTD4_chr12_112155195_112387431	112287500	AAAATAGC others(18): Show AAAATAGCAATAAAATTGTCACTAAT	A A	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0090 a0001c0003t0002g0090	1	268	0.0037	-25	c.133 others(44): Show c.1336-4223_1336-4199delATTAGTGACAATTTTATTGCTATTT		HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	7/75						chr12	TogoVar
HECW1_chr7_43107647_43571001	43314937	GTCACACA others(18): Show GTCACACAGCTGCCTCCCCTGGCTCA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	180	0.0056	-25	c.352 others(42): Show c.352+2851_352+2875delTCACACAGCTGCCTCCCCTGGCTCA		HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	4/29						chr7	TogoVar
HELT_chr4_185013490_185025953	185023051	CTCTCTCT others(18): Show CTCTCTCTCTCTCTCTCTCTCTCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	452	0.0022	-25	c.22 others(36): Show c.2280_*2304delTCTCTCTCTCTCTCTCTCTCTCTCT		HELT	ENSG00000187821.9	transcript	ENST00000515777.6	protein_coding					2099		chr4	TogoVar
HELT_chr4_185013490_185025953	185023053	CTCTCTCT others(18): Show CTCTCTCTCTCTCTCTCTCTCTCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG00673.hp2 others(54): Show HG00099.hp1 HG00609.hp1 HG00673.hp2 HG01123.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG03041.hp1 HG03041.hp2 HG03239.hp1 HG03453.hp2 HG03579.hp1 HG03688.hp2 HG06807.hp2 NA18940.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18963.hp1 NA18967.hp2 NA18975.hp2 NA18976.hp1 NA18988.hp2 NA18995.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19010.hp2 NA19054.hp2 NA19056.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0016 a0002c0002t0001g0002 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0002c0002t0001g0002 a0002c0002t0001g0004 a0003c0003t0001g0013	57	452	0.1261	-25	c.22 others(36): Show c.2282_*2306delTCTCTCTCTCTCTCTCTCTCTCTCT		HELT	ENSG00000187821.9	transcript	ENST00000515777.6	protein_coding					2101		chr4	TogoVar
HELZ2_chr20_63553086_63579239	63570988	ACCCACTC others(18): Show ACCCACTCCTGTGCTCCCGGGACAAG	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0111 a0002c0002t0111	a0002c0002t0111g0323 a0002c0002t0111g0323	1	388	0.0026	-25	c.279 others(40): Show c.279-145_279-121delCTTGTCCCGGGAGCACAGGAGTGGG		HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19						chr20	TogoVar

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