Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
ACTL8_chr1_17750333_17832063	17805377	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18984.hp1 NA19083.hp2 others(1): Show NA18943.hp1 NA18984.hp1 NA19083.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0131 a0001c0001t0001g0153 a0001c0001t0001g0154 others(1): Show a0001c0001t0001g0131 a0001c0001t0001g0153 a0001c0001t0001g0154 a0003c0007t0001g0146	4	245	0.0163	-13	c.-24 others(32): Show c.-24-17594_-24-17582delTTTTTTTTTTTTT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTMAP_chr19_40735861_40755477	40753384	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01070.hp2 HG01071.hp2 others(1): Show HG00140.hp1 HG01070.hp2 HG01071.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	4	80	0.0500	-13	c.-35 others(24): Show c.-3594_-3582delAAAAAAAAAAAAA	ACTMAP	ENSG00000188493.15	transcript	ENST00000378313.7	protein_coding		2908		chr19	TogoVar
ACTN1_chr14_68869128_68984302	68982265	TCCAAAAT others(6): Show TCCAAAATGGCACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	282	0.0035	-13	c.-32 others(24): Show c.-3222_-3210delGGTGCCATTTTGG	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding		2964		chr14	TogoVar
ACTN2_chr1_236681499_236769631	236707709	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0185 a0001c0001t0009g0185	1	9	0.1111	-13	c.127 others(32): Show c.127-10141_127-10129delTTTTTTTTTTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236721015	GTTTTTTG others(6): Show GTTTTTTGTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0282 a0001c0001t0003g0282	1	132	0.0076	-13	c.448 others(28): Show c.448+831_448+843delGTTTTTTTTTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN4_chr19_38642649_38736589	38680212	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG00735.hp2 others(29): Show HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01243.hp1 HG01891.hp2 HG02257.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02723.hp1 HG02976.hp2 HG03098.hp1 HG03453.hp1 HG03490.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp2 NA18522.hp1 NA19043.hp1 NA19088.hp2 NA19240.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0010 others(4): Show a0001c0002 a0001c0003 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014	a0001c0002t0001 a0001c0002t0010 a0001c0002t0027 others(9): Show a0001c0002t0001 a0001c0002t0010 a0001c0002t0027 a0001c0002t0042 a0001c0003t0004 a0001c0003t0008 a0001c0003t0045 a0001c0010t0001 a0001c0011t0010 a0001c0012t0004 a0001c0013t0004 a0001c0014t0004	a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0010g0005 others(28): Show a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0010g0005 a0001c0002t0010g0304 a0001c0002t0027g0303 a0001c0002t0042g0186 a0001c0003t0004g0088 a0001c0003t0004g0089 a0001c0003t0004g0090 a0001c0003t0004g0091 a0001c0003t0004g0095 a0001c0003t0004g0177 a0001c0003t0004g0178 a0001c0003t0004g0179 a0001c0003t0004g0180 a0001c0003t0004g0184 a0001c0003t0004g0185 a0001c0003t0004g0188 a0001c0003t0004g0195 a0001c0003t0004g0213 a0001c0003t0008g0176 a0001c0003t0008g0181 a0001c0003t0008g0182 a0001c0003t0008g0183 a0001c0003t0008g0192 a0001c0003t0045g0189 a0001c0010t0001g0295 a0001c0011t0010g0294 a0001c0012t0004g0190 a0001c0013t0004g0187 a0001c0014t0004g0193	32	100	0.3200	-13	c.163 others(32): Show c.163-20367_163-20355delTTTTTTTTTTTTT	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38736012	CTCGGGGG others(6): Show CTCGGGGGTCTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0296 a0001c0002t0001g0296	1	289	0.0035	-13	c.65 others(24): Show c.6581_*6593delTCGGGGGTCTCGG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4424		chr19	TogoVar
ACTR10_chr14_58195149_58240636	58232398	CTTTTTCT others(6): Show CTTTTTCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	320	0.0031	-13	c.107 others(30): Show c.1072+137_1072+149delCTTTTTTTTTTTT	ACTR10	ENSG00000131966.14	transcript	ENST00000254286.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
ACTR2_chr2_65222831_65276253	65225038	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02572.hp1 others(18): Show HG02257.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp1 NA18522.hp2 NA18906.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0037 others(13): Show a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0037 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0257 a0001c0003t0002g0241	21	258	0.0814	-13	c.-28 others(24): Show c.-2871_-2859delTTTTTTTTTTTTT	ACTR2	ENSG00000138071.15	transcript	ENST00000260641.10	protein_coding		2792		chr2	TogoVar
ACTR3B_chr7_152754752_152860378	152778943	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00558.hp1 others(48): Show HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00738.hp2 HG00741.hp2 HG01257.hp2 HG01515.hp2 HG01516.hp2 HG01934.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG03017.hp2 HG03139.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp2 NA18939.hp1 NA18950.hp1 NA18951.hp2 NA18957.hp1 NA18960.hp1 NA18978.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp2 NA18993.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp2 NA19043.hp1 NA19062.hp1 NA19074.hp2 NA19080.hp2 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0183 a0001c0001t0002g0006 a0001c0001t0002g0007 others(48): Show a0001c0001t0001g0183 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0177	51	55	0.9273	-13	c.45- others(28): Show c.45-4214_45-4202delAAAAAAAAAAAAA	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR6_chr12_100195815_100229424	100228606	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01074.hp1 HG01346.hp1 others(24): Show HG00673.hp1 HG01074.hp1 HG01346.hp1 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02451.hp1 HG02647.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03516.hp1 HG03942.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0001t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0015 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0111 a0001c0001t0001g0144 a0001c0002t0002g0005 a0001c0004t0001g0047 a0001c0004t0001g0048	27	134	0.2015	-13	c.46 others(24): Show c.4692_*4704delAAAAAAAAAAAAA	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding		4183		chr12	TogoVar
ACTRT2_chr1_3016467_3027903	3026208	GATGATGT others(6): Show GATGATGTGATGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	364	0.0027	-13	c.33 others(24): Show c.3389_*3401delATGATGTGATGGT	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		3306		chr1	TogoVar
ACVR1B_chr12_51946699_52002078	51993765	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03453.hp2 HG03490.hp1 others(4): Show HG02723.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp2 NA18951.hp1 NA18952.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0014 a0001c0001t0007g0116 a0001c0001t0007g0123 others(3): Show a0001c0001t0007g0014 a0001c0001t0007g0116 a0001c0001t0007g0123 a0001c0001t0007g0125 a0001c0001t0007g0254 a0001c0001t0007g0255	7	31	0.2258	-13	c.139 others(30): Show c.1393-193_1393-181delAAAAAAAAAAAAA	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1C_chr2_157521767_157633864	157599314	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG02257.hp2 others(16): Show HG01243.hp1 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03471.hp1 HG03486.hp2 HG04115.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0012 others(3): Show a0001c0001 a0001c0002 a0001c0012 a0002c0003 a0002c0011 a0002c0013	a0001c0001t0012 a0001c0002t0001 a0001c0002t0005 others(10): Show a0001c0001t0012 a0001c0002t0001 a0001c0002t0005 a0001c0002t0016 a0001c0002t0031 a0001c0012t0003 a0002c0003t0002 a0002c0003t0005 a0002c0003t0007 a0002c0003t0009 a0002c0003t0021 a0002c0011t0002 a0002c0013t0010	a0001c0001t0012g0192 a0001c0002t0001g0063 a0001c0002t0001g0075 others(16): Show a0001c0001t0012g0192 a0001c0002t0001g0063 a0001c0002t0001g0075 a0001c0002t0001g0084 a0001c0002t0005g0092 a0001c0002t0016g0037 a0001c0002t0016g0038 a0001c0002t0031g0083 a0001c0012t0003g0051 a0002c0003t0002g0010 a0002c0003t0005g0008 a0002c0003t0005g0096 a0002c0003t0005g0097 a0002c0003t0007g0012 a0002c0003t0007g0100 a0002c0003t0009g0036 a0002c0003t0021g0099 a0002c0011t0002g0011 a0002c0013t0010g0052	19	57	0.3333	-13	c.74- others(30): Show c.74-11910_74-11898delTTTTTTTTTTTTT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	1/8			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157788809	AGGGTAAA others(6): Show AGGGTAAAAACTTG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG02897.hp1 others(5): Show HG02145.hp1 HG02559.hp1 HG02897.hp1 HG02970.hp2 HG03579.hp2 NA19030.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0002t0015 a0001c0003t0003 a0001c0002t0003 a0001c0002t0015 a0001c0003t0003	a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 others(5): Show a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 a0001c0002t0003g0096 a0001c0002t0003g0130 a0001c0002t0003g0156 a0001c0002t0015g0095 a0001c0003t0003g0144	8	172	0.0465	-13	c.68- others(28): Show c.68-8222_68-8210delCAAGTTTTTACCC	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	3/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157851890	CACACACA others(6): Show CACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0142 a0001c0002t0001g0142	1	172	0.0058	-13	c.-18 others(34): Show c.-183+23893_-183+23905delTGTGTGTGTGTGT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147869917	AGTATGTT others(6): Show AGTATGTTTGCAGT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	336	0.0030	-13	c.55+ others(30): Show c.55+24714_55+24726delTGTTTGCAGTGTA	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147881648	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	336	0.0030	-13	c.56- others(30): Show c.56-14650_56-14638delGTGTGTGTGTGGT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVR2B_chr3_38448890_38498142	38478986	AGCTGGGA others(6): Show AGCTGGGAGGCTGG	A A	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0137 a0001c0001t0137	a0001c0001t0137g0122 a0001c0001t0137g0122	1	408	0.0025	-13	c.667 others(28): Show c.667-140_667-128delCTGGGAGGCTGGG	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38485666	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02040.hp1 HG02129.hp1 NA18960.hp2 others(7): Show HG02040.hp1 HG02129.hp1 NA18960.hp2 NA18968.hp1 NA18985.hp2 NA19009.hp2 NA19011.hp2 NA19070.hp1 NA19078.hp2 NA19083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0068 a0001c0003t0073 a0001c0003t0007 a0001c0003t0068 a0001c0003t0073	a0001c0003t0007g0003 a0001c0003t0007g0051 a0001c0003t0007g0153 others(3): Show a0001c0003t0007g0003 a0001c0003t0007g0051 a0001c0003t0007g0153 a0001c0003t0007g0154 a0001c0003t0068g0003 a0001c0003t0073g0003	10	122	0.0820	-13	c.23 others(24): Show c.2349_*2361delTTTTTTTTTTTTT	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	2349	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACY1_chr3_51978535_51994197	51981894	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01243.hp1 HG02559.hp2 others(5): Show HG01169.hp1 HG01243.hp1 HG02559.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0001g0001 a0001c0001t0002g0001	8	51	0.1569	-13	c.-17 others(24): Show c.-1713_-1701delAAAAAAAAAAAAA	ACY1	ENSG00000243989.9	transcript	ENST00000636358.2	protein_coding		1640		chr3	TogoVar
ACYP2_chr2_53966113_54310300	53967649	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02895.hp1 NA18906.hp1 HG02886.hp1 HG02895.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0087 a0001c0002t0003g0088 a0001c0002t0003g0098 a0001c0002t0003g0087 a0001c0002t0003g0088 a0001c0002t0003g0098	3	59	0.0508	-13	c.-37 others(24): Show c.-3708_-3696delAAAAAAAAAAAAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding		3463		chr2	TogoVar
ACYP2_chr2_53966113_54310300	53994329	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	115	0.0087	-13	c.62+ others(30): Show c.62+20530_62+20542delAAAAAAAAAAAAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54102638	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0075 a0001c0002t0015g0075	1	6	0.1667	-13	c.278 others(32): Show c.278-32791_278-32779delAAAAAAAAAAAAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54202706	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00544.hp1 others(52): Show HG00099.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01515.hp1 HG01934.hp2 HG01978.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02451.hp1 HG02486.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03540.hp1 HG03669.hp1 HG03831.hp1 HG04115.hp1 HG04228.hp2 NA18941.hp2 NA18945.hp2 NA18951.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18986.hp2 NA18990.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19062.hp1 NA19080.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0015 a0002c0003t0002 a0002c0003t0005	a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0130 others(52): Show a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0167 a0001c0001t0001g0202 a0001c0001t0001g0214 a0001c0001t0001g0248 a0001c0001t0004g0184 a0001c0001t0004g0245 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0057 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0070 a0001c0002t0002g0095 a0001c0002t0002g0100 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0082 a0001c0002t0005g0034 a0001c0002t0005g0038 a0001c0002t0008g0067 a0001c0002t0008g0069 a0001c0002t0015g0075 a0002c0003t0002g0014 a0002c0003t0002g0017 a0002c0003t0002g0020 a0002c0003t0002g0031 a0002c0003t0002g0050 a0002c0003t0002g0104 a0002c0003t0005g0101	55	74	0.7432	-13	c.404 others(32): Show c.404+63987_404+63999delTTTTTTTTTTTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54274625	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	91	0.0110	-13	c.405 others(32): Show c.405-30047_405-30035delAAAAAAAAAAAAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54284194	TAAAAAGC others(6): Show TAAAAAGCATCCAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG03225.hp1 HG01884.hp1 HG01891.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0209 a0001c0001t0001g0250 a0001c0001t0012g0265 a0001c0001t0001g0209 a0001c0001t0001g0250 a0001c0001t0012g0265	3	270	0.0111	-13	c.405 others(32): Show c.405-20492_405-20480delAAAAGCATCCACA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAD1_chr4_122374011_122434784	122378285	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp2 others(29): Show HG00099.hp1 HG00280.hp2 HG00408.hp2 HG00609.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp2 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02717.hp2 HG02738.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG06807.hp1 NA18522.hp2 NA18954.hp1 NA18982.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0039 others(27): Show a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0152 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0190 a0001c0001t0001g0280 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0004t0001g0094 a0001c0004t0001g0095	32	36	0.8889	-13	c.-91 others(22): Show c.-912_-900delAAAAAAAAAAAAA	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding		725		chr4	TogoVar
ADAD1_chr4_122374011_122434784	122418306	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp1 HG01884.hp2 others(30): Show HG01109.hp2 HG01192.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0010 a0001c0002t0001g0011 others(23): Show a0001c0002t0001g0003 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0209	33	108	0.3056	-13	c.148 others(32): Show c.1487+2699_1487+2711delTTTTTTTTTTTTT	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADAD2_chr16_84186157_84202166	84196461	GCAACCCC others(6): Show GCAACCCCTTCGCT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(175): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03927.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18960.hp2 NA18963.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0014 a0016	a0001c0004 a0001c0007 a0001c0024 others(15): Show a0001c0004 a0001c0007 a0001c0024 a0001c0035 a0002c0005 a0002c0038 a0003c0001 a0003c0034 a0004c0009 a0005c0010 a0006c0016 a0006c0027 a0007c0018 a0008c0014 a0009c0020 a0011c0040 a0014c0026 a0016c0025	a0001c0004t0003 a0001c0004t0004 a0001c0007t0004 others(19): Show a0001c0004t0003 a0001c0004t0004 a0001c0007t0004 a0001c0024t0004 a0001c0035t0001 a0002c0005t0001 a0002c0005t0003 a0002c0038t0002 a0003c0001t0001 a0003c0001t0006 a0003c0034t0001 a0004c0009t0002 a0005c0010t0006 a0006c0016t0007 a0006c0027t0007 a0007c0018t0003 a0007c0018t0004 a0008c0014t0001 a0009c0020t0003 a0011c0040t0007 a0014c0026t0001 a0016c0025t0001	a0001c0004t0003g0006 a0001c0004t0003g0011 a0001c0004t0003g0032 others(43): Show a0001c0004t0003g0006 a0001c0004t0003g0011 a0001c0004t0003g0032 a0001c0004t0004g0011 a0001c0004t0004g0012 a0001c0004t0004g0020 a0001c0004t0004g0024 a0001c0004t0004g0033 a0001c0007t0004g0031 a0001c0024t0004g0012 a0001c0035t0001g0049 a0002c0005t0001g0046 a0002c0005t0003g0014 a0002c0038t0002g0038 a0003c0001t0001g0003 a0003c0001t0001g0004 a0003c0001t0001g0017 a0003c0001t0001g0021 a0003c0001t0001g0055 a0003c0001t0001g0056 a0003c0001t0001g0066 a0003c0001t0001g0068 a0003c0001t0001g0069 a0003c0001t0001g0071 a0003c0001t0001g0072 a0003c0001t0001g0073 a0003c0001t0001g0074 a0003c0001t0001g0075 a0003c0001t0001g0076 a0003c0001t0006g0013 a0003c0001t0006g0077 a0003c0034t0001g0003 a0004c0009t0002g0022 a0004c0009t0002g0028 a0004c0009t0002g0044 a0005c0010t0006g0013 a0006c0016t0007g0062 a0006c0016t0007g0064 a0006c0027t0007g0047 a0007c0018t0003g0048 a0007c0018t0004g0006 a0008c0014t0001g0030 a0009c0020t0003g0006 a0011c0040t0007g0060 a0014c0026t0001g0003 a0016c0025t0001g0003	178	468	0.3803	-13	c.152 others(30): Show c.1526+115_1526+127delGCTCAACCCCTTC	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADAL_chr15_43325672_43359569	43326034	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG03017.hp1 HG02055.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0027 a0001c0001t0002 a0001c0001t0027	a0001c0001t0002g0001 a0001c0001t0027g0204 a0001c0001t0002g0001 a0001c0001t0027g0204	2	87	0.0230	-13	c.-52 others(24): Show c.-5213_-5201delTTTTTTTTTTTTT	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding		4637		chr15	TogoVar
ADAM10_chr15_58583809_58754707	58593149	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01169.hp2 HG01346.hp1 HG02055.hp2 others(4): Show HG01169.hp2 HG01346.hp1 HG02055.hp2 HG02074.hp1 HG02818.hp2 HG03453.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0039 a0001c0001t0047 a0001c0001t0015 a0001c0001t0039 a0001c0001t0047	a0001c0001t0015g0335 a0001c0001t0015g0338 a0001c0001t0015g0339 others(4): Show a0001c0001t0015g0335 a0001c0001t0015g0338 a0001c0001t0015g0339 a0001c0001t0039g0029 a0001c0001t0039g0075 a0001c0001t0047g0091 a0001c0001t0047g0094	7	11	0.6364	-13	c.43 others(24): Show c.4385_*4397delAAAAAAAAAAAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	16/16	4385		chr15	TogoVar
ADAM10_chr15_58583809_58754707	58738585	TTGAAATC others(6): Show TTGAAATCAGCTAG	T T	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0292 a0001c0001t0111g0292	1	340	0.0029	-13	c.55+ others(30): Show c.55+10882_55+10894delCTAGCTGATTTCA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	1/15			chr15	TogoVar
ADAM11_chr17_44753988_44786846	44784273	TCAAAAAA others(6): Show TCAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0002 a0001c0001t0009g0002	1	334	0.0030	-13	c.45 others(24): Show c.4520_*4532delCAAAAAAAAAAAA	ADAM11	ENSG00000073670.14	transcript	ENST00000200557.11	protein_coding		2428		chr17	TogoVar
ADAM12_chr10_126007391_126393477	126113686	AAATATAT others(6): Show AAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02886.hp2 HG02809.hp2 HG02886.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0010 a0002c0001t0042 a0001c0004t0010 a0002c0001t0042	a0001c0004t0010g0199 a0002c0001t0042g0032 a0001c0004t0010g0199 a0002c0001t0042g0032	2	243	0.0082	-13	c.604 others(30): Show c.604-3859_604-3847delATATATATATATT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126113688	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00738.hp2 others(7): Show HG00438.hp1 HG00597.hp2 HG00738.hp2 HG02071.hp2 HG02976.hp2 HG03710.hp1 NA18961.hp2 NA18979.hp1 NA19079.hp2 NA19090.hp2	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001 a0002c0005 a0002c0011 a0016c0030	a0001c0002t0001 a0001c0002t0041 a0001c0003t0005 others(6): Show a0001c0002t0001 a0001c0002t0041 a0001c0003t0005 a0001c0004t0019 a0002c0001t0001 a0002c0005t0003 a0002c0005t0005 a0002c0011t0003 a0016c0030t0001	a0001c0002t0001g0038 a0001c0002t0041g0233 a0001c0003t0005g0130 others(7): Show a0001c0002t0001g0038 a0001c0002t0041g0233 a0001c0003t0005g0130 a0001c0004t0019g0202 a0002c0001t0001g0043 a0002c0001t0001g0076 a0002c0005t0003g0052 a0002c0005t0005g0168 a0002c0011t0003g0095 a0016c0030t0001g0113	10	194	0.0515	-13	c.604 others(30): Show c.604-3861_604-3849delATATATATATATA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126163569	ACTTTAAC others(6): Show ACTTTAACTTTACC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02723.hp2 others(9): Show HG02280.hp1 HG02486.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03453.hp1 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0004 a0001c0008 others(5): Show a0001c0002 a0001c0004 a0001c0008 a0001c0012 a0001c0021 a0001c0037 a0002c0054 a0004c0022	a0001c0002t0001 a0001c0004t0010 a0001c0004t0020 others(7): Show a0001c0002t0001 a0001c0004t0010 a0001c0004t0020 a0001c0008t0034 a0001c0012t0012 a0001c0021t0017 a0001c0037t0010 a0002c0054t0001 a0004c0022t0002 a0004c0022t0016	a0001c0002t0001g0245 a0001c0004t0010g0199 a0001c0004t0020g0017 others(9): Show a0001c0002t0001g0245 a0001c0004t0010g0199 a0001c0004t0020g0017 a0001c0004t0020g0195 a0001c0008t0034g0015 a0001c0012t0012g0192 a0001c0021t0017g0109 a0001c0021t0017g0110 a0001c0037t0010g0246 a0002c0054t0001g0011 a0004c0022t0002g0183 a0004c0022t0016g0182	12	250	0.0480	-13	c.261 others(30): Show c.261-8277_261-8265delGGTAAAGTTAAAG	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126174008	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0023 a0001c0004t0002g0023	1	118	0.0085	-13	c.261 others(32): Show c.261-18716_261-18704delAAAAAAAAAAAAA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126190989	CCTTTTTT others(6): Show CCTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00673.hp2 others(45): Show HG00423.hp2 HG00558.hp2 HG00673.hp2 HG01099.hp1 HG01109.hp2 HG01175.hp1 HG02055.hp1 HG02074.hp2 HG02132.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02559.hp1 HG02615.hp1 HG02723.hp1 HG02738.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03710.hp1 HG04199.hp1 HG04199.hp2 NA18612.hp2 NA18747.hp2 NA18944.hp1 NA18952.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18982.hp1 NA18989.hp1 NA18994.hp1 NA19009.hp2 NA19011.hp2 NA19065.hp2 NA19070.hp2 NA19074.hp2 NA19084.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0008 a0009 a0015 a0016	a0001c0002 a0001c0003 a0001c0004 others(14): Show a0001c0002 a0001c0003 a0001c0004 a0001c0013 a0001c0021 a0001c0042 a0002c0001 a0002c0005 a0002c0006 a0002c0007 a0002c0017 a0003c0029 a0006c0044 a0008c0043 a0009c0039 a0015c0051 a0016c0030	a0001c0002t0001 a0001c0002t0008 a0001c0002t0010 others(33): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0015 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0040 a0001c0013t0001 a0001c0021t0017 a0001c0042t0003 a0002c0001t0001 a0002c0001t0007 a0002c0001t0008 a0002c0001t0009 a0002c0001t0011 a0002c0005t0003 a0002c0005t0005 a0002c0006t0001 a0002c0006t0002 a0002c0006t0006 a0002c0006t0007 a0002c0006t0010 a0002c0006t0021 a0002c0007t0002 a0002c0017t0002 a0003c0029t0007 a0006c0044t0036 a0008c0043t0001 a0009c0039t0006 a0015c0051t0004 a0016c0030t0001	a0001c0002t0001g0200 a0001c0002t0008g0127 a0001c0002t0010g0201 others(45): Show a0001c0002t0001g0200 a0001c0002t0008g0127 a0001c0002t0010g0201 a0001c0002t0011g0150 a0001c0002t0015g0209 a0001c0003t0003g0081 a0001c0003t0003g0211 a0001c0003t0004g0234 a0001c0003t0005g0230 a0001c0004t0001g0237 a0001c0004t0002g0111 a0001c0004t0010g0199 a0001c0004t0040g0090 a0001c0013t0001g0083 a0001c0021t0017g0109 a0001c0021t0017g0110 a0001c0042t0003g0086 a0002c0001t0001g0033 a0002c0001t0001g0043 a0002c0001t0001g0047 a0002c0001t0007g0035 a0002c0001t0007g0045 a0002c0001t0007g0153 a0002c0001t0008g0103 a0002c0001t0009g0020 a0002c0001t0009g0024 a0002c0001t0009g0118 a0002c0001t0011g0009 a0002c0005t0003g0042 a0002c0005t0003g0104 a0002c0005t0005g0037 a0002c0005t0005g0064 a0002c0006t0001g0050 a0002c0006t0002g0142 a0002c0006t0006g0163 a0002c0006t0006g0177 a0002c0006t0007g0100 a0002c0006t0010g0021 a0002c0006t0010g0194 a0002c0006t0021g0062 a0002c0007t0002g0179 a0002c0017t0002g0071 a0003c0029t0007g0241 a0006c0044t0036g0197 a0008c0043t0001g0251 a0009c0039t0006g0210 a0015c0051t0004g0034 a0016c0030t0001g0113	48	102	0.4706	-13	c.261 others(32): Show c.261-35697_261-35685delAAAAAAAAAAAAG	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126302648	GTCTAGAG others(6): Show GTCTAGAGTCAGTT	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0050 a0002c0050	a0002c0050t0006 a0002c0050t0006	a0002c0050t0006g0148 a0002c0050t0006g0148	1	250	0.0040	-13	c.187 others(32): Show c.187-23673_187-23661delAACTGACTCTAGA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	2/22			chr10	TogoVar
ADAM17_chr2_9483486_9560830	9518259	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03540.hp2 HG03195.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0065 a0001c0001t0062 a0001c0001t0065	a0001c0001t0062g0140 a0001c0001t0065g0141 a0001c0001t0062g0140 a0001c0001t0065g0141	2	139	0.0144	-13	c.958 others(26): Show c.958-25_958-13delTTTTTTTTTTTTT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	8/18			chr2	TogoVar
ADAM18_chr8_39579568_39735065	39661319	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01975.hp2 others(3): Show HG01069.hp1 HG01070.hp2 HG01975.hp2 HG02602.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0113 a0001c0002t0001g0136 others(3): Show a0001c0002t0001g0045 a0001c0002t0001g0113 a0001c0002t0001g0136 a0001c0002t0001g0145 a0001c0002t0001g0285 a0001c0002t0001g0286	6	16	0.3750	-13	c.123 others(32): Show c.1231-2460_1231-2448delTTTTTTTTTTTTT	ADAM18	ENSG00000168619.16	transcript	ENST00000265707.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM18_chr8_39579568_39735065	39701117	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02572.hp2 others(4): Show HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02895.hp2 HG03098.hp2 NA20129.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0004c0019 a0001c0002 a0004c0005 a0004c0019	a0001c0002t0001 a0004c0005t0001 a0004c0019t0001 a0001c0002t0001 a0004c0005t0001 a0004c0019t0001	a0001c0002t0001g0290 a0004c0005t0001g0288 a0004c0005t0001g0292 others(4): Show a0001c0002t0001g0290 a0004c0005t0001g0288 a0004c0005t0001g0292 a0004c0005t0001g0307 a0004c0005t0001g0314 a0004c0005t0001g0318 a0004c0019t0001g0080	7	67	0.1045	-13	c.190 others(32): Show c.1903-5653_1903-5641delAAAAAAAAAAAAA	ADAM18	ENSG00000168619.16	transcript	ENST00000265707.10	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM23_chr2_206438532_206626127	206508655	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	162	0.0062	-13	c.510 others(32): Show c.510-22225_510-22213delAAAAAAAAAAAAA	ADAM23	ENSG00000114948.13	transcript	ENST00000264377.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAM30_chr1_119888533_119901515	119892944	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02723.hp2 HG03195.hp2 HG02630.hp2 HG02723.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	3	48	0.0625	-13	c.10 others(24): Show c.1007_*1019delTTTTTTTTTTTTT	ADAM30	ENSG00000134249.7	transcript	ENST00000369400.2	protein_coding		588		chr1	TogoVar
ADAM32_chr8_39102734_39289917	39185933	TCTGCTGG others(6): Show TCTGCTGGCAAGGG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02615.hp2 others(7): Show HG02257.hp2 HG02258.hp2 HG02615.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG03209.hp2 HG03225.hp2 HG06807.hp1	a0003 a0011 a0003 a0011	a0003c0004 a0011c0011 a0003c0004 a0011c0011	a0003c0004t0001 a0011c0011t0001 a0003c0004t0001 a0011c0011t0001	a0003c0004t0001g0134 a0003c0004t0001g0135 a0003c0004t0001g0136 others(7): Show a0003c0004t0001g0134 a0003c0004t0001g0135 a0003c0004t0001g0136 a0003c0004t0001g0137 a0003c0004t0001g0139 a0003c0004t0001g0140 a0003c0004t0001g0141 a0003c0004t0001g0142 a0003c0004t0001g0143 a0011c0011t0001g0138	10	256	0.0391	-13	c.916 others(28): Show c.916-975_916-963delCTGCTGGCAAGGG	ADAM32	ENSG00000197140.15	transcript	ENST00000379907.9	protein_coding	10/24			chr8	TogoVar
ADAM32_chr8_39102734_39289917	39285625	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0241 a0002c0005t0001g0241	1	33	0.0303	-13	c.82 others(22): Show c.827_*839delTTTTTTTTTTTTT	ADAM32	ENSG00000197140.15	transcript	ENST00000379907.9	protein_coding		709		chr8	TogoVar
ADAM8_chr10_133257423_133281868	133277068	AGCCCCGA others(6): Show AGCCCCGAGAGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA19010.hp2 NA18948.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0089 a0001c0001t0001g0003 a0001c0001t0001g0089	2	384	0.0052	-13	c.-26 others(22): Show c.-264_-252delCCCCTCTCGGGGC	ADAM8	ENSG00000151651.16	transcript	ENST00000445355.8	protein_coding		201		chr10	TogoVar
ADAM9_chr8_38991973_39110261	39068675	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01361.hp1 HG02055.hp2 others(10): Show HG01192.hp1 HG01361.hp1 HG02055.hp2 HG02109.hp1 HG02135.hp1 HG02148.hp1 HG02572.hp1 NA18961.hp2 NA18965.hp2 NA18967.hp1 NA19066.hp2 NA19077.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0060 others(10): Show a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0137 a0001c0001t0001g0239 a0001c0001t0001g0271 a0001c0001t0003g0133	13	41	0.3171	-13	c.159 others(32): Show c.1592-2596_1592-2584delAAAAAAAAAAAAA	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS10_chr19_8575240_8615715	8598565	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03209.hp1 HG03225.hp2 others(1): Show HG02630.hp1 HG03209.hp1 HG03225.hp2 HG03516.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0004c0006t0004 a0004c0006t0009 a0001c0001t0002 a0004c0006t0004 a0004c0006t0009	a0001c0001t0002g0292 a0004c0006t0004g0121 a0004c0006t0004g0193 others(1): Show a0001c0001t0002g0292 a0004c0006t0004g0121 a0004c0006t0004g0193 a0004c0006t0009g0030	4	19	0.2105	-13	c.811 others(30): Show c.811-1261_811-1249delAAAAAAAAAAAAA	ADAMTS10	ENSG00000142303.14	transcript	ENST00000597188.6	protein_coding	6/25			chr19	TogoVar

Search by Variant

Search

Search Results