Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
ACSL6_chr5_131944973_132016658	131990123	AAGGCTGC others(16): Show AAGGCTGCTTAGGCTTCCTGAAAC	A A	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0207 a0003c0005t0002g0207	1	326	0.0031	-23	c.404 others(30): Show c.404_426delGTTTCAGGAAGCCTAAGCAGCCT	p.Gly others(5): Show p.Gly135fs	ACSL6	ENSG00000164398.15	transcript	ENST00000651883.2	protein_coding	4/21	531/6535	404/2169	135/722			chr5	TogoVar
ACTL6B_chr7_100638097_100661448	100652999	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19056.hp1 HG00408.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	2	360	0.0056	-23	c.369 others(40): Show c.369+1997_369+2019delTTTTTTTTTTTTTTTTTTTTTTT		ACTL6B	ENSG00000077080.10	transcript	ENST00000160382.10	protein_coding	4/13						chr7	TogoVar
ACTL9_chr19_8692400_8703795	8692502	CAGAATGA others(16): Show CAGAATGAGACCCTGTTTCAGAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	356	0.0028	-23	c.49 others(34): Show c.4926_*4948delTTTCTGAAACAGGGTCTCATTCT		ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding					4897		chr19	TogoVar
ACTL9_chr19_8692400_8703795	8695189	ATCATGCG others(16): Show ATCATGCGGCTGCACTCCAGATGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0000 a0009c0013t0001g0000	1	356	0.0028	-23	c.22 others(34): Show c.2239_*2261delCCATCTGGAGTGCAGCCGCATGA		ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding					2210		chr19	TogoVar
ACTN1_chr14_68869128_68984302	68963184	CCTCCTCC others(16): Show CCTCCTCCAGGAAGTCCTACCTGT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp1 HG01099.hp2 others(3): Show HG00642.hp2 HG01074.hp1 HG01099.hp2 HG04115.hp2 HG04204.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0001c0001t0001 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 others(3): Show a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0002t0003g0157 a0001c0002t0003g0158 a0001c0002t0004g0103	6	284	0.0211	-23	c.105 others(42): Show c.105+15745_105+15767delACAGGTAGGACTTCCTGGAGGAG		ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21						chr14	TogoVar
ACTR3B_chr7_152754752_152860378	152778943	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	310	0.0032	-23	c.45- others(38): Show c.45-4224_45-4202delAAAAAAAAAAAAAAAAAAAAAAA		ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR3B_chr7_152754752_152860378	152796860	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	310	0.0032	-23	c.101 others(40): Show c.101-3655_101-3633delTTTTTTTTTTTTTTTTTTTTTTT		ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ACVR1B_chr12_51946699_52002078	51993765	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	324	0.0031	-23	c.139 others(40): Show c.1393-203_1393-181delAAAAAAAAAAAAAAAAAAAAAAA		ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
ACYP2_chr2_53966113_54310300	54102638	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	272	0.0037	-23	c.278 others(42): Show c.278-32801_278-32779delAAAAAAAAAAAAAAAAAAAAAAA		ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAD1_chr4_122374011_122434784	122378285	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02109.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0072 a0001c0001t0002g0213 a0001c0001t0001g0072 a0001c0001t0002g0213	2	376	0.0053	-23	c.-91 others(32): Show c.-912_-890delAAAAAAAAAAAAAAAAAAAAAAA		ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding					725		chr4	TogoVar
ADAM10_chr15_58583809_58754707	58593149	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00438.hp2 others(12): Show HG00423.hp2 HG00438.hp1 HG00438.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG02615.hp1 HG03017.hp2 HG03195.hp2 NA18940.hp2 NA18964.hp2 NA19012.hp2 NA19064.hp2 NA19068.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0043 a0001c0001t0046 others(5): Show a0001c0001t0010 a0001c0001t0043 a0001c0001t0046 a0001c0001t0072 a0001c0001t0096 a0001c0001t0097 a0001c0001t0101 a0001c0002t0010	a0001c0001t0010g0059 a0001c0001t0010g0113 a0001c0001t0010g0130 others(12): Show a0001c0001t0010g0059 a0001c0001t0010g0113 a0001c0001t0010g0130 a0001c0001t0010g0137 a0001c0001t0010g0160 a0001c0001t0043g0147 a0001c0001t0043g0187 a0001c0001t0046g0085 a0001c0001t0046g0086 a0001c0001t0072g0248 a0001c0001t0096g0277 a0001c0001t0097g0019 a0001c0001t0101g0131 a0001c0002t0010g0114 a0001c0002t0010g0118	15	342	0.0439	-23	c.43 others(34): Show c.4375_*4397delAAAAAAAAAAAAAAAAAAAAAAA		ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	16/16				4375		chr15	TogoVar
ADAM10_chr15_58583809_58754707	58655696	GTATATAT others(16): Show GTATATATATATATAGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG00735.hp2 others(17): Show HG00438.hp1 HG00673.hp1 HG00735.hp2 HG01993.hp2 HG02080.hp1 HG02135.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp2 NA18943.hp2 NA18944.hp1 NA18950.hp1 NA18955.hp2 NA18971.hp2 NA18995.hp1 NA19007.hp1 NA19060.hp1 NA19088.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0044 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0044 a0001c0001t0100	a0001c0001t0001g0007 a0001c0001t0001g0056 a0001c0001t0001g0057 others(17): Show a0001c0001t0001g0007 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0263 a0001c0001t0001g0340 a0001c0001t0010g0059 a0001c0001t0044g0067 a0001c0001t0100g0070	20	342	0.0585	-23	c.585 others(40): Show c.585+9378_585+9400delTATATATACTATATATATATATA		ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15						chr15	TogoVar
ADAM12_chr10_126007391_126393477	126086665	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03209.hp2 HG02647.hp2 HG03209.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0008 a0002c0006t0011 a0002c0006t0008 a0002c0006t0011	a0002c0006t0008g0155 a0002c0006t0011g0021 a0002c0006t0008g0155 a0002c0006t0011g0021	2	252	0.0079	-23	c.114 others(42): Show c.1145+7297_1145+7319delATATATATTTTTTTTTTTTTTTT		ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22						chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086667	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02074.hp2 HG02300.hp2 others(16): Show HG01099.hp2 HG02074.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG03130.hp2 HG03139.hp1 HG03490.hp2 HG03491.hp1 HG04199.hp2 NA18946.hp2 NA18959.hp2 NA18966.hp2 NA18983.hp1 NA19065.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0013	a0001c0002 a0001c0004 a0001c0008 others(7): Show a0001c0002 a0001c0004 a0001c0008 a0001c0014 a0001c0021 a0002c0001 a0002c0006 a0004c0047 a0006c0045 a0013c0041	a0001c0002t0001 a0001c0002t0027 a0001c0004t0002 others(14): Show a0001c0002t0001 a0001c0002t0027 a0001c0004t0002 a0001c0004t0004 a0001c0004t0023 a0001c0004t0041 a0001c0008t0001 a0001c0014t0003 a0001c0014t0009 a0001c0021t0021 a0002c0001t0001 a0002c0001t0006 a0002c0006t0001 a0002c0006t0004 a0004c0047t0004 a0006c0045t0022 a0013c0041t0004	a0001c0002t0001g0205 a0001c0002t0027g0001 a0001c0004t0002g0034 others(16): Show a0001c0002t0001g0205 a0001c0002t0027g0001 a0001c0004t0002g0034 a0001c0004t0004g0093 a0001c0004t0023g0173 a0001c0004t0041g0040 a0001c0008t0001g0078 a0001c0014t0003g0090 a0001c0014t0009g0095 a0001c0021t0021g0076 a0001c0021t0021g0077 a0002c0001t0001g0225 a0002c0001t0006g0197 a0002c0006t0001g0109 a0002c0006t0004g0234 a0002c0006t0004g0240 a0004c0047t0004g0164 a0006c0045t0022g0170 a0013c0041t0004g0015	19	252	0.0754	-23	c.114 others(42): Show c.1145+7295_1145+7317delATATATATATTTTTTTTTTTTTT		ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22						chr10	TogoVar
ADAM12_chr10_126007391_126393477	126113688	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp2 HG02145.hp2 HG02717.hp2	a0001 a0003 a0001 a0003	a0001c0012 a0003c0027 a0001c0012 a0003c0027	a0001c0012t0014 a0003c0027t0011 a0001c0012t0014 a0003c0027t0011	a0001c0012t0014g0079 a0003c0027t0011g0179 a0001c0012t0014g0079 a0003c0027t0011g0179	2	252	0.0079	-23	c.604 others(40): Show c.604-3871_604-3849delATATATATATATATATATATATA		ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22						chr10	TogoVar
ADAM12_chr10_126007391_126393477	126374353	AATCCACA others(16): Show AATCCACAGTAATACAGAATCAGC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02145.hp1 HG02647.hp2 others(1): Show HG01175.hp1 HG02145.hp1 HG02647.hp2 HG03195.hp2	a0002 a0002	a0002c0001 a0002c0006 a0002c0001 a0002c0006	a0002c0001t0008 a0002c0001t0017 a0002c0006t0005 others(1): Show a0002c0001t0008 a0002c0001t0017 a0002c0006t0005 a0002c0006t0008	a0002c0001t0008g0157 a0002c0001t0017g0156 a0002c0006t0005g0154 others(1): Show a0002c0001t0008g0157 a0002c0001t0017g0156 a0002c0006t0005g0154 a0002c0006t0008g0155	4	252	0.0159	-23	c.88+ others(40): Show c.88+13682_88+13704delGCTGATTCTGTATTACTGTGGAT		ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	1/22						chr10	TogoVar
ADAMTS14_chr10_70667506_70767441	70765892	TTCATGGC others(16): Show TTCATGGCAGCCCCTCCCATCACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0007 a0013c0020t0007	a0013c0020t0007g0027 a0013c0020t0007g0027	1	354	0.0028	-23	c.50 others(34): Show c.5040_*5062delTCATGGCAGCCCCTCCCATCACA		ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding					3452		chr10	TogoVar
ADAMTS16_chr5_5135330_5325304	5299346	TAGGCAGC others(16): Show TAGGCAGCAGCTCGGGCCCAGACC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01256.hp1 HG01192.hp1 HG01256.hp1	a0001 a0002 a0001 a0002	a0001c0023 a0002c0002 a0001c0023 a0002c0002	a0001c0023t0001 a0002c0002t0001 a0001c0023t0001 a0002c0002t0001	a0001c0023t0001g0228 a0002c0002t0001g0273 a0001c0023t0001g0228 a0002c0002t0001g0273	2	332	0.0060	-23	c.279 others(42): Show c.2790-3918_2790-3896delCAGCAGCTCGGGCCCAGACCAGG		ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	18/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS17_chr15_99966437_100346975	99977377	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0126 a0003c0009t0001g0126	1	228	0.0044	-23	c.295 others(42): Show c.2950-1178_2950-1156delTATATATATATATATATATATAT		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	20/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100190477	CTTCCAGA others(16): Show CTTCCAGAGGCCACAGGTTGGGTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0163 a0004c0008t0001g0163	1	228	0.0044	-23	c.118 others(42): Show c.1181+8818_1181+8840delAACCCAACCTGTGGCCTCTGGAA		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	8/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100270108	CAGCCATT others(16): Show CAGCCATTTCTTCTGTGACTCTGG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01358.hp2 HG02055.hp1 others(10): Show HG01243.hp1 HG01358.hp2 HG02055.hp1 HG02630.hp2 HG02895.hp2 HG02970.hp2 HG03209.hp2 HG03225.hp2 HG03654.hp2 HG03704.hp2 NA18906.hp1 NA20805.hp1 NA20805.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0009	a0001c0005 a0001c0007 a0001c0021 others(7): Show a0001c0005 a0001c0007 a0001c0021 a0001c0025 a0001c0033 a0001c0043 a0003c0006 a0003c0009 a0005c0026 a0009c0027	a0001c0005t0005 a0001c0007t0006 a0001c0021t0006 others(10): Show a0001c0005t0005 a0001c0007t0006 a0001c0021t0006 a0001c0021t0016 a0001c0025t0008 a0001c0033t0015 a0001c0043t0052 a0003c0006t0003 a0003c0006t0045 a0003c0009t0001 a0003c0009t0003 a0005c0026t0004 a0009c0027t0001	a0001c0005t0005g0193 a0001c0007t0006g0202 a0001c0021t0006g0171 others(10): Show a0001c0005t0005g0193 a0001c0007t0006g0202 a0001c0021t0006g0171 a0001c0021t0016g0113 a0001c0025t0008g0208 a0001c0033t0015g0178 a0001c0043t0052g0124 a0003c0006t0003g0027 a0003c0006t0045g0115 a0003c0009t0001g0126 a0003c0009t0003g0052 a0005c0026t0004g0195 a0009c0027t0001g0196	13	228	0.0570	-23	c.790 others(40): Show c.790-7696_790-7674delCCAGAGTCACAGAAGAAATGGCT		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100270171	GCTCTGGA others(16): Show GCTCTGGAGCCATTTCTTCTGTGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00642.hp1 others(9): Show HG00140.hp2 HG00323.hp2 HG00642.hp1 HG01106.hp2 HG01255.hp1 HG01361.hp2 HG03491.hp1 HG03704.hp1 HG03710.hp2 NA18984.hp1 NA18988.hp2 NA19070.hp2	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0002 a0001c0007 a0003c0009 others(3): Show a0001c0002 a0001c0007 a0003c0009 a0003c0015 a0003c0042 a0013c0044	a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 others(9): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0002t0019 a0001c0007t0007 a0003c0009t0001 a0003c0015t0001 a0003c0015t0003 a0003c0015t0046 a0003c0042t0001 a0013c0044t0003	a0001c0002t0002g0063 a0001c0002t0004g0081 a0001c0002t0005g0148 others(9): Show a0001c0002t0002g0063 a0001c0002t0004g0081 a0001c0002t0005g0148 a0001c0002t0009g0028 a0001c0002t0019g0026 a0001c0007t0007g0066 a0003c0009t0001g0064 a0003c0015t0001g0159 a0003c0015t0003g0044 a0003c0015t0046g0065 a0003c0042t0001g0102 a0013c0044t0003g0023	12	228	0.0526	-23	c.790 others(40): Show c.790-7759_790-7737delTCACAGAAGAAATGGCTCCAGAG		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100310723	GGCTTTAC others(16): Show GGCTTTACTGGGCTTTTCCCCTAA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18984.hp1 NA19043.hp1 HG03704.hp1 NA18984.hp1 NA19043.hp1	a0001 a0013 a0001 a0013	a0001c0002 a0013c0044 a0001c0002 a0013c0044	a0001c0002t0004 a0001c0002t0012 a0013c0044t0003 a0001c0002t0004 a0001c0002t0012 a0013c0044t0003	a0001c0002t0004g0081 a0001c0002t0012g0106 a0013c0044t0003g0023 a0001c0002t0004g0081 a0001c0002t0012g0106 a0013c0044t0003g0023	3	228	0.0132	-23	c.616 others(42): Show c.616+20143_616+20165delTTAGGGGAAAAGCCCAGTAAAGC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	3/21						chr15	TogoVar
ADAMTS20_chr12_43348866_43557203	43514560	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp2 HG01109.hp1 others(4): Show HG00140.hp2 HG01106.hp2 HG01109.hp1 HG02132.hp1 HG02293.hp2 HG04184.hp1 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0004c0006 a0001c0002 a0001c0003 a0004c0006	a0001c0002t0001 a0001c0003t0001 a0004c0006t0001 a0001c0002t0001 a0001c0003t0001 a0004c0006t0001	a0001c0002t0001g0135 a0001c0002t0001g0138 a0001c0002t0001g0139 others(4): Show a0001c0002t0001g0135 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0003t0001g0183 a0004c0006t0001g0136 a0004c0006t0001g0137	7	306	0.0229	-23	c.614 others(42): Show c.614-12178_614-12156delTTTTTTTTTTTTTTTTTTTTTTT		ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	3/38						chr12	TogoVar
ADAMTS2_chr5_179105853_179350461	179217834	GCAGACAG others(16): Show GCAGACAGGCACACTCACTAGGTA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0069 a0001c0069	a0001c0069t0002 a0001c0069t0002	a0001c0069t0002g0046 a0001c0069t0002g0046	1	276	0.0036	-23	c.689 others(42): Show c.689-10142_689-10120delTACCTAGTGAGTGTGCCTGTCTG		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179278075	CCCCCCGA others(16): Show CCCCCCGAGACCAAAGGCTGACCA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG03490.hp1 others(2): Show HG00735.hp2 HG01106.hp1 HG03490.hp1 HG03492.hp2 NA20805.hp2	a0005 a0009 a0012 a0005 a0009 a0012	a0005c0033 a0005c0077 a0009c0026 others(1): Show a0005c0033 a0005c0077 a0009c0026 a0012c0054	a0005c0033t0003 a0005c0077t0017 a0009c0026t0003 others(1): Show a0005c0033t0003 a0005c0077t0017 a0009c0026t0003 a0012c0054t0001	a0005c0033t0003g0140 a0005c0077t0017g0135 a0009c0026t0003g0137 others(2): Show a0005c0033t0003g0140 a0005c0077t0017g0135 a0009c0026t0003g0137 a0009c0026t0003g0138 a0012c0054t0001g0045	5	276	0.0181	-23	c.535 others(40): Show c.535-5034_535-5012delTGGTCAGCCTTTGGTCTCGGGGG		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179278086	CAAAGGCT others(16): Show CAAAGGCTGACCACCCCCGAGACA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0031 a0031	a0031c0082 a0031c0082	a0031c0082t0002 a0031c0082t0002	a0031c0082t0002g0197 a0031c0082t0002g0197	1	276	0.0036	-23	c.535 others(40): Show c.535-5045_535-5023delTGTCTCGGGGGTGGTCAGCCTTT		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65146625	CTTCTTTT others(16): Show CTTCTTTTTCTACCTGAACAAGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02451.hp2 NA19043.hp2 others(2): Show HG01884.hp1 HG02451.hp2 NA19043.hp2 NA19240.hp2 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0002 a0006c0007t0002 a0001c0001t0002 a0006c0007t0002	a0001c0001t0002g0077 a0001c0001t0002g0170 a0001c0001t0002g0171 others(2): Show a0001c0001t0002g0077 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0006c0007t0002g0106	5	204	0.0245	-23	c.51 others(34): Show c.5188_*5210delATCTTGTTCAGGTAGAAAAAGAA		ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding					2112		chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65230831	ATATATAT others(16): Show ATATATATATAATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02976.hp2 HG03139.hp2 HG02630.hp1 HG02976.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0002g0071 a0001c0001t0002g0172 a0001c0001t0001g0019 a0001c0001t0002g0071 a0001c0001t0002g0172	3	204	0.0147	-23	c.193 others(42): Show c.1934-4635_1934-4613delCATATATATGTATTATATATATA		ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24						chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65398805	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0192 a0001c0001t0004g0192	1	204	0.0049	-23	c.107 others(44): Show c.1073+52647_1073+52669delCTTTCTTTCTTTCTTTCTTTCTT		ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	7/24						chr5	TogoVar
ADAMTSL3_chr15_83649123_84044842	83906615	CCACACAC others(16): Show CCACACACCACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01243.hp2 HG02486.hp1 others(8): Show HG00738.hp2 HG01243.hp2 HG02486.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG03195.hp2 HG03486.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2	a0001 a0002 a0012 others(1): Show a0001 a0002 a0012 a0034	a0001c0058 a0002c0002 a0002c0008 others(4): Show a0001c0058 a0002c0002 a0002c0008 a0002c0016 a0002c0039 a0012c0034 a0034c0050	a0001c0058t0001 a0002c0002t0001 a0002c0008t0001 others(4): Show a0001c0058t0001 a0002c0002t0001 a0002c0008t0001 a0002c0016t0001 a0002c0039t0001 a0012c0034t0001 a0034c0050t0001	a0001c0058t0001g0031 a0002c0002t0001g0114 a0002c0008t0001g0115 others(8): Show a0001c0058t0001g0031 a0002c0002t0001g0114 a0002c0008t0001g0115 a0002c0008t0001g0128 a0002c0008t0001g0129 a0002c0016t0001g0124 a0002c0016t0001g0125 a0002c0016t0001g0126 a0002c0039t0001g0058 a0012c0034t0001g0055 a0034c0050t0001g0003	11	274	0.0402	-23	c.170 others(42): Show c.1701-6469_1701-6447delCACACACACACACACACACACAC		ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29					INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAP1_chr7_892900_959680	918912	GGAGTTGG others(16): Show GGAGTTGGGGACTGCTGGGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02280.hp1 HG03579.hp2 others(2): Show HG01993.hp2 HG02280.hp1 HG03579.hp2 HG03654.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0003t0004g0011	5	14	0.3571	-23	c.388 others(40): Show c.388+1033_388+1055delTGCCCCCCAGCAGTCCCCAACTC		ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10						chr7	TogoVar
ADAP1_chr7_892900_959680	943154	GAGGAGGA others(16): Show GAGGAGGAGGAAGGGAGAGAGGAT	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 homoSapiens_chm13v2.hp1 HG01346.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0003g0003 a0001c0001t0001g0004 a0001c0001t0003g0003	2	14	0.1429	-23	c.83- others(38): Show c.83-7672_83-7650delATCCTCTCTCCCTTCCTCCTCCT		ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	1/10						chr7	TogoVar
ADARB1_chr21_45069580_45231560	45191868	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0077 a0001c0002t0077	a0001c0002t0077g0221 a0001c0002t0077g0221	1	350	0.0029	-23	c.156 others(42): Show c.1565+6779_1565+6801delATATATATATATTTTTTTTTTTT		ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB2_chr10_1172313_1742525	1236648	CCCCTCTG others(16): Show CCCCTCTGCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0012 a0002c0002t0005g0012	1	106	0.0094	-23	c.136 others(42): Show c.1362-2826_1362-2804delAGTAAACACCGGGAGGCAGAGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237188	CCGGGTGT others(16): Show CCGGGTGTTAACTCCCCTCTCCCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0029 a0002c0004t0005g0029	1	106	0.0094	-23	c.136 others(42): Show c.1362-3366_1362-3344delAGGGAGAGGGGAGTTAACACCCG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237393	CCCCTCTC others(16): Show CCCCTCTCCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0020 a0008c0013t0020	a0008c0013t0020g0037 a0008c0013t0020g0037	1	106	0.0094	-23	c.136 others(42): Show c.1362-3571_1362-3549delAGTAAACACCGGGAGGGAGAGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237921	CCCCTCTC others(16): Show CCCCTCTCCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0044 a0002c0002t0044	a0002c0002t0044g0049 a0002c0002t0044g0049	1	106	0.0094	-23	c.136 others(42): Show c.1362-4099_1362-4077delAGTAAACACCGGGAGGGAGAGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238586	CCCCTCTG others(16): Show CCCCTCTGCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0018 a0002c0002t0006g0018	1	106	0.0094	-23	c.136 others(42): Show c.1361+3522_1361+3544delAGTAAACACCGGGAGGCAGAGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239405	CCCCTCTC others(16): Show CCCCTCTCCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	106	0.0094	-23	c.136 others(42): Show c.1361+2703_1361+2725delAGTAAACACCGGGAGGGAGAGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239717	CCCCCCTC others(16): Show CCCCCCTCCCTCCCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	106	0.0094	-23	c.136 others(42): Show c.1361+2391_1361+2413delAGTGAACACCGGGAGGGAGGGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239813	CCCCTCTC others(16): Show CCCCTCTCCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0002 a0002c0002t0007g0002	1	106	0.0094	-23	c.136 others(42): Show c.1361+2295_1361+2317delAGTAAACACCGGGAGGGAGAGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1254170	CATGGTGG others(16): Show CATGGTGGGCTCTGTGGTTAGGAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp2 HG02109.hp1 others(8): Show HG01081.hp1 HG01243.hp2 HG02109.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02886.hp1 HG03209.hp2 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0019 a0001c0001t0022 others(8): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0030 a0001c0001t0049 a0001c0001t0052 a0001c0003t0001 a0001c0003t0060 a0001c0007t0066	a0001c0001t0001g0045 a0001c0001t0019g0038 a0001c0001t0022g0015 others(8): Show a0001c0001t0001g0045 a0001c0001t0019g0038 a0001c0001t0022g0015 a0001c0001t0023g0023 a0001c0001t0029g0031 a0001c0001t0030g0034 a0001c0001t0049g0040 a0001c0001t0052g0062 a0001c0003t0001g0070 a0001c0003t0060g0104 a0001c0007t0066g0105	11	106	0.1038	-23	c.119 others(44): Show c.1193-11894_1193-11872delATCCTAACCACAGAGCCCACCAT		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	4/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1298720	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18522.hp2 NA18982.hp2 others(1): Show HG03540.hp1 NA18522.hp2 NA18982.hp2 NA21309.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0003 a0007c0011 others(1): Show a0001c0001 a0001c0003 a0007c0011 a0008c0013	a0001c0001t0003 a0001c0003t0009 a0007c0011t0034 others(1): Show a0001c0001t0003 a0001c0003t0009 a0007c0011t0034 a0008c0013t0020	a0001c0001t0003g0098 a0001c0003t0009g0046 a0007c0011t0034g0076 others(1): Show a0001c0001t0003g0098 a0001c0003t0009g0046 a0007c0011t0034g0076 a0008c0013t0020g0037	4	106	0.0377	-23	c.107 others(44): Show c.1078-27674_1078-27652delAAAAAAAAAAAAAAAAAAAAAAA		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1327444	CCCACGGC others(16): Show CCCACGGCCCAGCGCCTCCTCACT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02083.hp2 HG02257.hp1 others(4): Show HG02027.hp1 HG02083.hp2 HG02257.hp1 HG02683.hp1 HG02717.hp1 HG02886.hp1 HG03540.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0010	a0001c0001 a0001c0007 a0002c0002 others(3): Show a0001c0001 a0001c0007 a0002c0002 a0004c0005 a0008c0013 a0010c0009	a0001c0001t0009 a0001c0007t0066 a0002c0002t0005 others(4): Show a0001c0001t0009 a0001c0007t0066 a0002c0002t0005 a0002c0002t0064 a0004c0005t0037 a0008c0013t0020 a0010c0009t0024	a0001c0001t0009g0055 a0001c0007t0066g0105 a0002c0002t0005g0012 others(4): Show a0001c0001t0009g0055 a0001c0007t0066g0105 a0002c0002t0005g0012 a0002c0002t0064g0100 a0004c0005t0037g0064 a0008c0013t0020g0037 a0010c0009t0024g0016	7	106	0.0660	-23	c.107 others(44): Show c.1077+35561_1077+35583delAGTGAGGAGGCGCTGGGCCGTGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1327537	ACTGCCCA others(16): Show ACTGCCCAGCGCCTCCTCACGGCC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG02055.hp1 others(10): Show HG00639.hp2 HG01081.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02717.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 NA18522.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0007c0011	a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 others(8): Show a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0029 a0001c0003t0032 a0001c0003t0039 a0002c0002t0002 a0002c0002t0005 a0002c0002t0027 a0002c0002t0048 a0007c0011t0034	a0001c0001t0017g0030 a0001c0001t0019g0038 a0001c0001t0022g0015 others(10): Show a0001c0001t0017g0030 a0001c0001t0019g0038 a0001c0001t0022g0015 a0001c0001t0029g0031 a0001c0003t0032g0071 a0001c0003t0039g0044 a0002c0002t0002g0043 a0002c0002t0002g0067 a0002c0002t0005g0022 a0002c0002t0005g0033 a0002c0002t0027g0021 a0002c0002t0048g0068 a0007c0011t0034g0076	13	106	0.1226	-23	c.107 others(44): Show c.1077+35468_1077+35490delGGCCGTGAGGAGGCGCTGGGCAG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1493729	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0012 a0002c0002t0005g0012	1	106	0.0094	-23	c.101 others(44): Show c.101-114592_101-114570delAAAAAAAAAAAAAAAAAAAAAAA		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADCY1_chr7_45569368_45728116	45612185	CAAGTGGG others(16): Show CAAGTGGGTGGAAAGTAGCTGAAG	C C	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	278	0.0036	-23	c.908 others(40): Show c.908+1690_908+1712delAGTGGGTGGAAAGTAGCTGAAGA		ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCY3_chr2_24814169_24925237	24853006	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0072 a0001c0002t0004g0072	1	272	0.0037	-23	c.826 others(42): Show c.826-10645_826-10623delACACACACACACACACACACACA		ADCY3	ENSG00000138031.15	transcript	ENST00000679454.1	protein_coding	3/21						chr2	TogoVar
ADCY5_chr3_123277296_123454090	123449203	CGGGGGGG others(16): Show CGGGGGGGAGGGTCCTGGAGCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	260	0.0039	-23	c.-68 others(32): Show c.-681_-659delCGGGCTCCAGGACCCTCCCCCCC		ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding					114		chr3	TogoVar

Search by Variant

Search

Search Results (Total: 4709 hits)