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
ARHGEF17_chr11_73303276_73374388	73329353	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	223	0.0045	-23	c.319 others(44): Show c.3192+17525_3193-17506delATATATATATATATATATATTTT		ARHGEF17	ENSG00000110237.5	transcript	ENST00000263674.4	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF18_chr19_7343937_7477478	7350764	GTGGGTGT others(16): Show GTGGGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0028 a0028	a0028c0031 a0028c0031	a0028c0031t0013 a0028c0031t0013	a0028c0031t0013g0037 a0028c0031t0013g0037	1	295	0.0034	-23	c.-11 others(42): Show c.-111+1524_-111+1546delTGGGTGTGTGTGTGTGTGTGTGT		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28						chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7455510	CCAAGGGG others(16): Show CCAAGGGGGACTGAGGGGCACGAG	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0083 a0003c0003t0002g0083	1	296	0.0034	-23	c.210 others(40): Show c.2105-816_2105-794delCAAGGGGGACTGAGGGGCACGAG		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	17/28						chr19	TogoVar
ARHGEF28_chr5_73621196_73946990	73671716	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0009 a0007c0009t0009	a0007c0009t0009g0164 a0007c0009t0009g0164	1	172	0.0058	-23	c.-11 others(42): Show c.-11-13123_-11-13101delATATATATATATATATATATATT		ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF28_chr5_73621196_73946990	73733956	AGCAAAGG others(16): Show AGCAAAGGGGGACACGTTATACAC	A A	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0037 a0037	a0037c0078 a0037c0078	a0037c0078t0004 a0037c0078t0004	a0037c0078t0004g0051 a0037c0078t0004g0051	1	186	0.0054	-23	c.34- others(40): Show c.34-15880_34-15858delGCAAAGGGGGACACGTTATACAC		ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	2/35						chr5	TogoVar
ARHGEF38_chr4_105547620_105685914	105561401	AATAGAAT others(16): Show AATAGAATAGAATAGAATAGAATG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	181	0.0055	-23	c.196 others(40): Show c.196+8441_196+8463delATAGAATAGAATAGAATAGAATG		ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13						chr4	TogoVar
ARHGEF7_chr13_111110310_111310732	111139572	CGTGGAGC others(16): Show CGTGGAGCACTGGCGGGTGCCTGT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0246 a0001c0001t0003g0246	1	272	0.0037	-23	c.166 others(42): Show c.166-14310_166-14288delTGTGGAGCACTGGCGGGTGCCTG		ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr13	TogoVar
ARID1B_chr6_156772378_157215779	157004890	CTTTTTTC others(16): Show CTTTTTTCTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03041.hp1 HG03195.hp2 others(1): Show HG02647.hp2 HG03041.hp1 HG03195.hp2 NA19043.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0018	a0001c0001 a0002c0014 a0009c0005 others(1): Show a0001c0001 a0002c0014 a0009c0005 a0018c0041	a0001c0001t0006 a0002c0014t0002 a0009c0005t0002 others(1): Show a0001c0001t0006 a0002c0014t0002 a0009c0005t0002 a0018c0041t0005	a0001c0001t0006g0083 a0002c0014t0002g0024 a0009c0005t0002g0046 others(1): Show a0001c0001t0006g0083 a0002c0014t0002g0024 a0009c0005t0002g0046 a0018c0041t0005g0150	4	128	0.0313	-23	c.224 others(44): Show c.2247+69321_2247+69343delCTTTTTTTTTTTTTTTTTTTTTT		ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID3B_chr15_74536220_74603131	74570462	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0009 a0001c0001t0001 a0002c0003t0009	a0001c0001t0001g0261 a0002c0003t0009g0275 a0001c0001t0001g0261 a0002c0003t0009g0275	2	54	0.0370	-23	c.553 others(40): Show c.553-2387_553-2365delAAAAAAAAAAAAAAAAAAAAAAA		ARID3B	ENSG00000179361.18	transcript	ENST00000346246.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
ARID4B_chr1_235161902_235333179	235173770	AAATATAT others(16): Show AAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	253	0.0040	-23	c.366 others(42): Show c.3665-1029_3665-1007delATATATATATATATATATATATT		ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	22/23						chr1	TogoVar
ARID5B_chr10_61896699_62101944	61940947	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0191 a0001c0001t0008g0191	1	237	0.0042	-23	c.502 others(38): Show c.502+541_502+563delATATATATATATATATATTTTTT		ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr10	TogoVar
ARID5B_chr10_61896699_62101944	62027285	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18906.hp1 HG03041.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0156 a0001c0001t0005g0195 a0001c0001t0002g0156 a0001c0001t0005g0195	2	30	0.0667	-23	c.734 others(42): Show c.734-23584_734-23562delTTTTTTTTTTTTTTTTTTTTTTT		ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr10	TogoVar
ARL10_chr5_176360487_176386909	176375319	TCCATCCA others(16): Show TCCATCCATCCATCCATCATCCAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp2 HG02970.hp2 HG03486.hp2 HG02886.hp2 HG02970.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0030 a0001c0003t0060 a0001c0001t0030 a0001c0003t0060	a0001c0001t0030g0091 a0001c0001t0030g0092 a0001c0003t0060g0074 a0001c0001t0030g0091 a0001c0001t0030g0092 a0001c0003t0060g0074	3	416	0.0072	-23	c.34 others(34): Show c.3442_*3464delATCCACCCATCCATCCATCCATC		ARL10	ENSG00000175414.7	transcript	ENST00000310389.6	protein_coding	4/4				3442	INFO_REALIGN_3_PRIME	chr5	TogoVar
ARL14EPL_chr5_116027472_116064489	116036305	GAAAGCTT others(16): Show GAAAGCTTCTAAAACACATACATC	G G	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	460	0.0022	-23	c.-10 others(40): Show c.-10+3801_-10+3823delAAAGCTTCTAAAACACATACATC		ARL14EPL	ENSG00000268223.7	transcript	ENST00000686077.1	protein_coding	1/3						chr5	TogoVar
ARL15_chr5_53878942_54315573	53899347	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01069.hp2 others(12): Show HG00642.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01346.hp1 HG01496.hp2 HG01884.hp1 HG02602.hp1 HG02602.hp2 HG02922.hp2 HG03130.hp2 HG03704.hp2 HG03834.hp2 HG04115.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006	a0001c0001t0001g0067 a0001c0001t0001g0149 a0001c0001t0001g0195 others(12): Show a0001c0001t0001g0067 a0001c0001t0001g0149 a0001c0001t0001g0195 a0001c0001t0002g0100 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0152 a0001c0001t0006g0121 a0001c0002t0001g0029 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0040 a0001c0002t0006g0032	15	45	0.3333	-23	c.463 others(42): Show c.463-12657_463-12635delTTTTTTTTTTTTTTTTTTTTTTT		ARL15	ENSG00000185305.12	transcript	ENST00000504924.6	protein_coding	4/4						chr5	TogoVar
ARL6IP5_chr3_69079937_69111092	69107453	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03516.hp1 HG02970.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0139 a0001c0001t0009g0128 a0001c0001t0001g0139 a0001c0001t0009g0128	2	52	0.0385	-23	c.28 others(34): Show c.2818_*2840delTTTTTTTTTTTTTTTTTTTTTTT		ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding					1362		chr3	TogoVar
ARMC8_chr3_138182301_138303373	138201436	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	15	0.0667	-23	c.46- others(38): Show c.46-8362_46-8340delTTTTTTTTTTTTTTTTTTTTTTT		ARMC8	ENSG00000114098.18	transcript	ENST00000469044.6	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr3	TogoVar
ARRDC1_chr9_137600686_137620360	137601232	TATATATA others(16): Show TATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	336	0.0030	-23	c.-44 others(34): Show c.-4485_-4463delATATATATATATATATATATATA		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding					4453		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601236	TATATATA others(16): Show TATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 NA19085.hp2 HG02129.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	334	0.0060	-23	c.-44 others(34): Show c.-4481_-4459delATATATATATATATATATATATA		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding					4449		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601237	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG02895.hp1 NA19088.hp1 HG00323.hp2 HG02895.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0014	3	328	0.0091	-23	c.-44 others(34): Show c.-4480_-4458delTATATATATATATATATATATAT		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding					4448		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601239	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01943.hp1 HG03209.hp2 HG01167.hp2 HG01943.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0003g0013 a0001c0001t0001g0004 a0001c0001t0003g0013	3	327	0.0092	-23	c.-44 others(34): Show c.-4478_-4456delTATATATATATATATATATATTT		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding					4446		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601241	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG02273.hp1 NA19001.hp2 HG01978.hp1 HG02273.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0049 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0049	3	318	0.0094	-23	c.-44 others(34): Show c.-4476_-4454delTATATATATATATATATATTTTT		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding					4444		chr9	TogoVar
ARRDC4_chr15_97955703_97978833	97977565	GTTCACTG others(16): Show GTTCACTGTTTCTGAGTTTTGCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0027 a0002c0002t0034g0027	1	420	0.0024	-23	c.63 others(34): Show c.6379_*6401delTTCACTGTTTCTGAGTTTTGCTA		ARRDC4	ENSG00000140450.9	transcript	ENST00000268042.7	protein_coding					3733		chr15	TogoVar
ARSB_chr5_78772209_78990310	78911572	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02896.hp1 HG03225.hp1 HG01496.hp1 HG02896.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0013 a0002c0002 a0002c0013	a0002c0002t0006 a0002c0002t0052 a0002c0013t0017 a0002c0002t0006 a0002c0002t0052 a0002c0013t0017	a0002c0002t0006g0011 a0002c0002t0052g0016 a0002c0013t0017g0012 a0002c0002t0006g0011 a0002c0002t0052g0016 a0002c0013t0017g0012	3	40	0.0750	-23	c.899 others(42): Show c.899-25768_899-25746delTTTTTTTTTTTTTTTTTTTTTTT		ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	4/7						chr5	TogoVar
ARSH_chrX_3001546_3039111	3012553	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0176 a0001c0001t0001g0178	2	246	0.0081	-23	c.215 others(38): Show c.215-492_215-470delAAAAAAAAAAAAAAATATATATA		ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding	2/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ART1_chr11_3640128_3669416	3647638	TAAATAAA others(16): Show TAAATAAATAATATATAAATAAAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp1 HG02280.hp2 others(8): Show HG01243.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02965.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 NA19030.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0011 a0003c0003 a0002c0002 a0002c0011 a0003c0003	a0002c0002t0002 a0002c0011t0001 a0003c0003t0001 others(1): Show a0002c0002t0002 a0002c0011t0001 a0003c0003t0001 a0003c0003t0002	a0002c0002t0002g0053 a0002c0011t0001g0054 a0003c0003t0001g0052 others(7): Show a0002c0002t0002g0053 a0002c0011t0001g0054 a0003c0003t0001g0052 a0003c0003t0001g0055 a0003c0003t0001g0059 a0003c0003t0002g0016 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0060	11	392	0.0281	-23	c.-53 others(40): Show c.-53+2461_-53+2483delAATAAATAATATATAAATAAAAA		ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
ART1_chr11_3640128_3669416	3663053	CTCATCTC others(16): Show CTCATCTCATCTCATCTCATCTCA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0053 a0002c0002t0002g0053	1	392	0.0026	-23	c.887 others(40): Show c.887-1023_887-1001delTCATCTCATCATCTCATCTCATC		ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
ASB15_chr7_123596821_123644481	123620532	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03579.hp2 NA18747.hp1 others(2): Show HG02165.hp1 HG03579.hp2 NA18747.hp1 NA18943.hp2 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0022 a0002c0003t0002 a0002c0003t0008 a0001c0002t0022 a0002c0003t0002 a0002c0003t0008	a0001c0002t0022g0214 a0002c0003t0002g0186 a0002c0003t0008g0002 others(1): Show a0001c0002t0022g0214 a0002c0003t0002g0186 a0002c0003t0008g0002 a0002c0003t0008g0014	5	372	0.0134	-23	c.451 others(40): Show c.451+2797_451+2819delATATATATATATATATATATATT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620534	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18981.hp2 NA18984.hp2 others(1): Show HG02055.hp2 NA18981.hp2 NA18984.hp2 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0002 a0001c0002t0003 a0002c0003t0002	a0001c0002t0003g0151 a0002c0003t0002g0002 a0002c0003t0002g0137 a0001c0002t0003g0151 a0002c0003t0002g0002 a0002c0003t0002g0137	4	372	0.0108	-23	c.451 others(40): Show c.451+2799_451+2821delATATATATATATATATATATTTT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620536	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	369	0.0027	-23	c.451 others(40): Show c.451+2801_451+2823delATATATATATATATATATTTTTT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB5_chr4_176208673_176274222	176218324	TATATATA others(16): Show TATATATATTTGTATGATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0331 a0001c0002t0002g0331	1	408	0.0025	-23	c.671 others(40): Show c.671-1338_671-1316delTTATATATCATACAAATATATAT		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASB5_chr4_176208673_176274222	176219241	AATATATA others(16): Show AATATATATGTATGATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	407	0.0025	-23	c.670 others(40): Show c.670+1891_670+1913delATTTATATATCATACATATATAT		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASB5_chr4_176208673_176274222	176219396	TTGTATGA others(16): Show TTGTATGATATATAAATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01123.hp2 HG01346.hp2 others(19): Show HG00673.hp2 HG01123.hp2 HG01346.hp2 HG02572.hp2 HG02683.hp2 HG02886.hp1 HG03130.hp1 HG03579.hp1 HG04184.hp1 HG06807.hp1 NA18939.hp1 NA18945.hp1 NA18952.hp1 NA18956.hp1 NA18960.hp1 NA18961.hp1 NA18972.hp1 NA18986.hp1 NA19003.hp1 NA19068.hp2 NA19084.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0113 others(19): Show a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0201 a0001c0001t0001g0221 a0001c0001t0001g0239 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0334 a0001c0004t0001g0355 a0001c0004t0001g0356	22	408	0.0539	-23	c.670 others(40): Show c.670+1736_670+1758delTATATATATTTATATATCATACA		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASCC1_chr10_72091032_72221276	72218166	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02895.hp2 HG03453.hp2 others(2): Show HG02723.hp2 HG02895.hp2 HG03453.hp2 HG03540.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0009 a0001c0001t0002g0153 a0001c0001t0002g0156 others(2): Show a0001c0001t0002g0009 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0003g0127	5	187	0.0267	-23	c.-20 others(34): Show c.-2016_-1994delATATATATATATATATATATATA		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding					1891		chr10	TogoVar
ASCC3_chr6_100503194_100886329	100870211	AAATGCAT others(16): Show AAATGCATTTTTAATGCATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG01952.hp2 HG00738.hp1 HG01081.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0015t0001g0281 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0015t0001g0281	3	312	0.0096	-23	c.-41 others(40): Show c.-41-2196_-41-2174delAAAAAATGCATTAAAAATGCATT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	1/41						chr6	TogoVar
ASGR2_chr17_7096326_7119822	7098427	AACTTCTA others(16): Show AACTTCTAGTTTTATAGACTTTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00738.hp2 HG01074.hp1 others(61): Show HG00609.hp1 HG00738.hp2 HG01074.hp1 HG01168.hp2 HG01169.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01993.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02109.hp2 HG02148.hp1 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03704.hp1 NA18747.hp1 NA18944.hp1 NA18949.hp1 NA18951.hp2 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA18972.hp2 NA18983.hp2 NA18985.hp1 NA18990.hp2 NA18992.hp2 NA18997.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp2 NA19030.hp1 NA19062.hp2 NA19072.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19091.hp1 NA20129.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0017 others(1): Show a0001c0001 a0001c0002 a0001c0017 a0003c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0017t0001 a0003c0015t0001	a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0161 others(48): Show a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0161 a0001c0001t0001g0203 a0001c0001t0001g0249 a0001c0001t0002g0103 a0001c0001t0003g0050 a0001c0001t0003g0279 a0001c0001t0003g0295 a0001c0001t0004g0020 a0001c0001t0004g0301 a0001c0001t0004g0303 a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0005g0018 a0001c0001t0005g0265 a0001c0001t0005g0266 a0001c0001t0005g0267 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0014g0293 a0001c0002t0001g0011 a0001c0002t0001g0017 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0214 a0001c0002t0001g0230 a0001c0002t0002g0074 a0001c0002t0002g0108 a0001c0002t0003g0019 a0001c0002t0003g0047 a0001c0002t0003g0278 a0001c0002t0003g0280 a0001c0002t0003g0282 a0001c0002t0003g0285 a0001c0002t0003g0286 a0001c0002t0003g0289 a0001c0002t0003g0294 a0001c0002t0003g0296 a0001c0002t0004g0300 a0001c0017t0001g0253 a0003c0015t0001g0213	64	430	0.1488	-23	c.31 others(34): Show c.3125_*3147delATAAAGTCTATAAAACTAGAAGT		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding					2898		chr17	TogoVar
ASH1L_chr1_155330268_155567803	155490968	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp2 HG03486.hp1 others(2): Show HG02280.hp2 HG02922.hp2 HG03486.hp1 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 others(2): Show a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0107 a0001c0001t0001g0165	5	58	0.0862	-23	c.421 others(40): Show c.421-8542_421-8520delTTTTTTTTTTTTTTTTTTTTTTT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	2/27						chr1	TogoVar
ASMT_chrX_1610059_1648081	1633238	GGCAAAGC others(16): Show GGCAAAGCAGCACTTCTCATTCCA	G G	frameshift_variant frameshift_variant	HIGH	NA18963.hp1 NA18963.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0108 a0008c0010t0001g0108	1	220	0.0045	-23	c.737 others(30): Show c.737_759delCAAAGCAGCACTTCTCATTCCAG	p.Ala others(5): Show p.Ala246fs	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	7/9	878/1330	737/1122	246/373		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASPHD2_chr22_26424260_26450015	26427812	CGTTCTGG others(16): Show CGTTCTGGAAGAGGGAGGAGGTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01496.hp2 HG01978.hp2 others(19): Show HG00544.hp2 HG01496.hp2 HG01978.hp2 HG01993.hp2 HG02056.hp2 HG02148.hp2 HG03492.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18983.hp2 NA18990.hp1 NA19054.hp1 NA19086.hp2 NA19087.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0042 a0001c0001t0001 a0001c0001t0002 a0001c0001t0042	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0017 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0002g0005 a0001c0001t0042g0003	22	426	0.0516	-23	c.-18 others(34): Show c.-1898_-1876delGTTCTGGAAGAGGGAGGAGGTGG		ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding					1447		chr22	TogoVar
ASPHD2_chr22_26424260_26450015	26428136	CTCTGGAA others(16): Show CTCTGGAAGAGGGAGGAGGTGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02257.hp2 others(10): Show HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0019 a0001c0001t0029 a0001c0001t0007 a0001c0001t0019 a0001c0001t0029	a0001c0001t0007g0013 a0001c0001t0007g0024 a0001c0001t0007g0129 others(8): Show a0001c0001t0007g0013 a0001c0001t0007g0024 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0007g0131 a0001c0001t0007g0132 a0001c0001t0007g0133 a0001c0001t0007g0134 a0001c0001t0007g0146 a0001c0001t0019g0024 a0001c0001t0029g0013	13	426	0.0305	-23	c.-15 others(34): Show c.-1574_-1552delTCTGGAAGAGGGAGGAGGTGGGT		ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding					1123		chr22	TogoVar
ASPH_chr8_61495556_61719592	61495655	TTAACAGC others(16): Show TTAACAGCAGCATGGCAGCATGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0217 a0001c0001t0011g0217	1	256	0.0039	-23	c.76 others(34): Show c.7681_*7703delCACATGCTGCCATGCTGCTGTTA		ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding					4900		chr8	TogoVar
ASPH_chr8_61495556_61719592	61704194	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	13	0.0769	-23	c.103 others(42): Show c.103+10052_103+10074delTTTTTTTTTTTTTTTTTTTTTTT		ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	1/24						chr8	TogoVar
ASRGL1_chr11_62332448_62398412	62362891	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	2	0.5000	-23	c.491 others(40): Show c.491+5770_491+5792delTTTTTTTTTTTTTTTTTTTTTTT		ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62398251	CCCTGCGC others(16): Show CCCTGCGCCACCACCAGGAAAGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0348 a0001c0001t0010g0348	1	368	0.0027	-23	c.59 others(34): Show c.5968_*5990delCCTGCGCCACCACCAGGAAAGGA		ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding					4840		chr11	TogoVar
ASTN1_chr1_176856067_177169712	176991412	TCAAAAAA others(16): Show TCAAAAAAAAAAAAAAAAAAAAAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00673.hp2 others(16): Show HG00408.hp1 HG00408.hp2 HG00673.hp2 HG01255.hp1 HG01978.hp1 HG02074.hp1 HG02074.hp2 HG02717.hp1 HG03239.hp2 HG03834.hp2 HG04115.hp1 HG04204.hp2 NA18960.hp1 NA18974.hp1 NA18974.hp2 NA18981.hp1 NA19062.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0008 a0003c0010 others(1): Show a0001c0001 a0002c0008 a0003c0010 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0002c0008t0003 a0003c0010t0006 a0005c0015t0001	a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0028 others(16): Show a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0002g0046 a0001c0001t0008g0085 a0001c0001t0010g0101 a0001c0001t0017g0019 a0002c0008t0003g0017 a0002c0008t0003g0094 a0003c0010t0006g0030 a0003c0010t0006g0031 a0005c0015t0001g0048	19	110	0.1727	-23	c.152 others(44): Show c.1523+23356_1523+23378delGTTTTTTTTTTTTTTTTTTTTTG		ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	8/22						chr1	TogoVar
ASTN2_chr9_116418112_117420057	116803506	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0004 a0002c0004t0001g0004	1	100	0.0100	-23	c.239 others(42): Show c.2396+2103_2396+2125delAAAAAAATATATATATATATATA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116803508	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0017 a0001c0014t0017	a0001c0014t0017g0049 a0001c0014t0017g0049	1	100	0.0100	-23	c.239 others(42): Show c.2396+2101_2396+2123delAAAAAAAAATATATATATATATA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22						chr9	TogoVar
ASXL1_chr20_32353331_32444319	32418809	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02615.hp1 others(7): Show HG02145.hp2 HG02451.hp1 HG02615.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02896.hp2 HG03139.hp1 HG03453.hp2 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0024 a0003c0004 a0003c0024	a0003c0004t0003 a0003c0004t0011 a0003c0024t0011 a0003c0004t0003 a0003c0004t0011 a0003c0024t0011	a0003c0004t0003g0017 a0003c0004t0003g0095 a0003c0004t0003g0096 others(7): Show a0003c0004t0003g0017 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0098 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0003g0189 a0003c0004t0011g0102 a0003c0024t0011g0103	10	30	0.3333	-23	c.253 others(40): Show c.253-9300_253-9278delTTTTTTTTTTTTTTTTTTTTTTT		ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL3_chr18_33573219_33756195	33713229	GTTTTTTT others(16): Show GTTTTTTTTGTTTTGTTTTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	188	0.0053	-23	c.880 others(42): Show c.880-18730_880-18708delGTTTTGTTTTGTTTTTTTTTTTT		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATAD3B_chr1_1466765_1502848	1492263	GATCACTT others(16): Show GATCACTTGAGGTCAGGAGTTCAA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0177 a0003c0005t0004g0177	1	274	0.0036	-23	c.161 others(42): Show c.1614+1593_1614+1615delATCACTTGAGGTCAGGAGTTCAA		ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	15/15						chr1	TogoVar

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