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 (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ACCS_chr11_44061270_44089237	44074775	T T	TCTTTCTT others(35): Show TCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0194 a0003c0002t0002g0194	1	438	0.0023	42	c.489 others(55): Show c.489+94_489+95insCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTT TCTTTCTTTC	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14			chr11	TogoVar
ACLY_chr17_41861918_41923951	41915799	C C	CACTTCAA others(35): Show CACTTCAAAGAGATTTTGTTGCCATTGGGAGATGCATGGACAG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	294	0.0034	42	c.-23 others(59): Show c.-23-1904_-23-1903insCTGTCCATGCATCTCCCAATGGCAACAA AATCTCTTTGAAGT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	1/28			chr17	TogoVar
ACOXL_chr2_110727573_111123548	110950810	G G	GGAGAGAG others(35): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0091 a0001c0003t0001g0091	1	150	0.0067	42	c.105 others(63): Show c.1059+17193_1059+17194insAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAG	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110950834	A A	AGAGAGAG others(35): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0084 a0001c0003t0002g0084	1	150	0.0067	42	c.105 others(63): Show c.1059+17193_1059+17194insAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGGG	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACP7_chr19_39079368_39116493	39093172	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCCTTCCTTCCATCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02683.hp1 HG02486.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0253 a0001c0001t0001g0254	2	402	0.0050	42	c.122 others(59): Show c.122-5285_122-5284insTTCTTTCTTTCTTTCCTTCCTTCCATCC TTCCTTCCTTCCTT	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACP7_chr19_39079368_39116493	39093172	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG01074.hp1 others(35): Show HG00280.hp2 HG00544.hp2 HG01074.hp1 HG01106.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01516.hp2 HG01943.hp1 HG02055.hp2 HG02258.hp1 HG02451.hp1 HG02572.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03017.hp2 HG03453.hp2 HG03540.hp1 HG03704.hp1 HG03710.hp2 HG04115.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18964.hp1 NA18965.hp2 NA18970.hp2 NA18998.hp2 NA19009.hp2 NA19074.hp2 NA19081.hp2 NA19091.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0030 a0001c0001t0033 a0001c0002t0031 a0001c0004t0004 a0001c0005t0001 a0001c0005t0006 a0001c0007t0006	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(35): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0341 a0001c0001t0001g0350 a0001c0001t0001g0356 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0399 a0001c0001t0004g0327 a0001c0001t0004g0374 a0001c0001t0006g0094 a0001c0001t0006g0096 a0001c0001t0006g0213 a0001c0001t0013g0252 a0001c0001t0013g0258 a0001c0001t0015g0148 a0001c0001t0030g0093 a0001c0001t0033g0369 a0001c0002t0031g0329 a0001c0004t0004g0071 a0001c0005t0001g0212 a0001c0005t0001g0221 a0001c0005t0006g0131 a0001c0005t0006g0206 a0001c0007t0006g0107 a0001c0007t0006g0110	38	402	0.0945	42	c.122 others(59): Show c.122-5285_122-5284insTTCTTTCTTTCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTT	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSL5_chr10_112369116_112433376	112423219	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp2 HG01071.hp2 HG00323.hp1 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0208 a0001c0001t0001g0004 a0001c0001t0001g0208	3	364	0.0082	42	c.159 others(59): Show c.1593+779_1593+780insTATATATATATATATATATATATATATA TATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAAAAAAA others(35): Show AAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	364	0.0028	42	c.159 others(59): Show c.1593+781_1593+782insAAAAAAAATATATATATATATATATATA TATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAAAAATA others(35): Show AAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	364	0.0028	42	c.159 others(59): Show c.1593+781_1593+782insAAAATATATATATATATATATATATATA TATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAAATATA others(35): Show AAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	364	0.0028	42	c.159 others(59): Show c.1593+781_1593+782insAATATATATATATATATATATATATATA TATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	364	0.0028	42	c.159 others(59): Show c.1593+803_1593+804insTATATATATATATATATATATATATATA TATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSM6_chr10_95189238_95233929	95217216	C C	CACGCACC others(35): Show CACGCACCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02486.hp1 others(2): Show HG02109.hp1 HG02145.hp1 HG02486.hp1 HG03195.hp2 NA18906.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0018 a0004c0004t0001g0161 a0004c0004t0001g0164 a0004c0004t0001g0018 a0004c0004t0001g0161 a0004c0004t0001g0164	5	314	0.0159	42	c.111 others(61): Show c.1119+2243_1119+2284dupCGCACCTGCAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGA	ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSS2_chr20_34871612_34932959	34873991	T T	TCTGTAGT others(35): Show TCTGTAGTGTGGTTGGAATTTTGGAGTGAGATGAGAGGATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0076 a0001c0002t0004g0076	1	312	0.0032	42	c.-26 others(53): Show c.-2655_-2654insCTGTAGTGTGGTTGGAATTTTGGAGTGAGATGAG AGGATGGA	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding		2620		chr20	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp1 HG01952.hp2 others(3): Show HG00280.hp2 HG00673.hp1 HG01952.hp2 HG01975.hp1 HG03017.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0264 a0001c0001t0001g0285 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0264 a0001c0001t0001g0285 a0001c0001t0003g0299 a0001c0001t0003g0324 a0001c0001t0006g0135	6	344	0.0174	42	c.876 others(55): Show c.876+83_876+84insTATATATATATATATATATATATATATATATA TATATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737315	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0064 a0001c0004t0002g0064	1	344	0.0029	42	c.876 others(57): Show c.876+104_876+105insATATATATATATATATATATATATATATAT ATATATATGTAT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN4_chr19_38642649_38736589	38736467	T T	TTTGACCA others(35): Show TTTGACCAAGCCCCAGGGCAGGTTGACCAAGCCCCAGGGCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0310 a0001c0001t0023g0310	1	314	0.0032	42	c.70 others(53): Show c.7035_*7036insTTGACCAAGCCCCAGGGCAGGTTGACCAAGCCCC AGGGCAGG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4879		chr19	TogoVar
ADA2_chr22_17173790_17224435	17184983	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03209.hp2 NA20805.hp2 HG01496.hp1 HG03209.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0001c0008 a0002c0002	a0001c0008t0001 a0001c0008t0002 a0002c0002t0003 a0001c0008t0001 a0001c0008t0002 a0002c0002t0003	a0001c0008t0001g0100 a0001c0008t0002g0110 a0002c0002t0003g0278 a0001c0008t0001g0100 a0001c0008t0002g0110 a0002c0002t0003g0278	3	408	0.0074	42	c.108 others(61): Show c.1082-2223_1082-2222insATATATATATATATATATATATATAT ATATATATATATATAT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9			chr22	TogoVar
ADAM10_chr15_58583809_58754707	58655702	A A	ATATATAC others(35): Show ATATATACTATATATAGTATATATATATACTATATATAGTGTG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19068.hp1 NA18951.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0175 a0001c0001t0010g0113 a0001c0001t0001g0175 a0001c0001t0010g0113	2	342	0.0059	42	c.585 others(59): Show c.585+9394_585+9395insCACACTATATATAGTATATATATATACT ATATATAGTATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM17_chr2_9483486_9560830	9520964	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA20129.hp1 HG01517.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0005 a0001c0001t0001g0029	2	234	0.0086	42	c.957 others(57): Show c.957+238_957+239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	8/18			chr2	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0215 a0002c0002t0001g0215	1	230	0.0044	42	c.324 others(61): Show c.324-36161_324-36160insAAAAAAAAAAAAAAAATATATATATA TATATATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0213 a0002c0002t0002g0213	1	230	0.0044	42	c.324 others(61): Show c.324-36161_324-36160insAAAAAAAAAAAAAATATATATATATA TATATATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(35): Show AAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	230	0.0044	42	c.324 others(61): Show c.324-36161_324-36160insAAAAAAAAAATATATATATATATATA TATATATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM32_chr8_39102734_39289917	39154033	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0254 a0002c0003t0001g0254	1	257	0.0039	42	c.525 others(59): Show c.525+2501_525+2502insATATATATATATATATATATATATATAT ATATATATATATAT	ADAM32	ENSG00000197140.15	transcript	ENST00000379907.9	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM9_chr8_38991973_39110261	39045069	C C	CCTATGTA others(35): Show CCTATGTATGTGTATGTGTGTGTGCACACATACCTATGTATGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02965.hp1 HG03139.hp2 HG02559.hp1 HG02965.hp1 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193	3	332	0.0090	42	c.130 others(61): Show c.1302+2952_1302+2953insCTATGTATGTGTATGTGTGTGTGCAC ACATACCTATGTATGT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21			chr8	TogoVar
ADAM9_chr8_38991973_39110261	39045262	A A	ACACACAC others(35): Show ACACACACCTATATGTGCGTGTGTACACACACCTATATGTGCG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	332	0.0030	42	c.130 others(61): Show c.1302+3145_1302+3146insCACACACCTATATGTGCGTGTGTACA CACACCTATATGTGCG	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21			chr8	TogoVar
ADAMTS12_chr5_33518535_33896990	33849591	C C	CATATGTA others(35): Show CATATGTATTGCATAGCAATATATATGTATTGCATAGCAATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp1 HG03139.hp2 HG02572.hp1 HG02809.hp1 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0024 a0003c0005 a0001c0024 a0003c0005	a0001c0024t0001 a0003c0005t0006 a0003c0005t0010 a0001c0024t0001 a0003c0005t0006 a0003c0005t0010	a0001c0024t0001g0050 a0003c0005t0006g0192 a0003c0005t0010g0193 a0001c0024t0001g0050 a0003c0005t0006g0192 a0003c0005t0010g0193	3	224	0.0134	42	c.489 others(61): Show c.489+31486_489+31527dupATATTGCTATGCAATACATATATATT GCTATGCAATACATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS15_chr11_130443645_130481645	130470149	T T	TATATATA others(35): Show TATATATATATATACACATGTATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0020 a0004c0010t0020	a0004c0010t0020g0089 a0004c0010t0020g0089	1	398	0.0025	42	c.172 others(59): Show c.1720+712_1720+713insATATATATATACACATGTATATATATAT ATATATATATACAT	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130470182	G G	GTATATAT others(35): Show GTATATATATATACATATATATATATGTATATATATATACATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0017 a0017	a0017c0025 a0017c0025	a0017c0025t0003 a0017c0025t0003	a0017c0025t0003g0100 a0017c0025t0003g0100	1	398	0.0025	42	c.172 others(59): Show c.1721-737_1721-736insATATATATATACATATATATATATGTAT ATATATATACATAT	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS16_chr5_5135330_5325304	5305067	A A	ACACACAC others(35): Show ACACACACACATCCCACACCACACATACACACACATCCCACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02895.hp2 HG00639.hp1 HG02895.hp2	a0003 a0004 a0003 a0004	a0003c0017 a0004c0009 a0003c0017 a0004c0009	a0003c0017t0013 a0004c0009t0040 a0003c0017t0013 a0004c0009t0040	a0003c0017t0013g0239 a0004c0009t0040g0135 a0003c0017t0013g0239 a0004c0009t0040g0135	2	332	0.0060	42	c.318 others(61): Show c.3186+1311_3186+1312insTCCCACACCACACATACACACACATC CCACACCACACACACA	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS18_chr16_77277128_77440034	77314753	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0007 a0003c0002t0007	a0003c0002t0007g0247 a0003c0002t0007g0247	1	326	0.0031	42	c.253 others(61): Show c.2532+5095_2532+5096insATATATATATATATATATATATATAT ATATATATATATATAT	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	16/22			chr16	TogoVar
ADAMTS18_chr16_77277128_77440034	77334748	G G	GTATACTA others(35): Show GTATACTATAGTATATATACTGTATACTATAGTATACAGTATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02922.hp2 HG03195.hp1 others(1): Show HG02723.hp1 HG02922.hp2 HG03195.hp1 HG03453.hp2	a0004 a0022 a0004 a0022	a0004c0003 a0004c0029 a0022c0030 a0004c0003 a0004c0029 a0022c0030	a0004c0003t0005 a0004c0003t0011 a0004c0029t0022 others(1): Show a0004c0003t0005 a0004c0003t0011 a0004c0029t0022 a0022c0030t0049	a0004c0003t0005g0317 a0004c0003t0011g0155 a0004c0029t0022g0305 others(1): Show a0004c0003t0005g0317 a0004c0003t0011g0155 a0004c0029t0022g0305 a0022c0030t0049g0316	4	326	0.0123	42	c.185 others(61): Show c.1859+1007_1859+1008insTATACTGTATACTATAGTATACAGTA TATATACTATAGTATA	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	12/22			chr16	TogoVar
ADAMTS19_chr5_129455298_129743683	129578139	T T	TATATATA others(35): Show TATATATACATATGCATGTATATGTACGTATACGTACATATAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA20300.hp1 HG03471.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0018 a0001c0001t0007g0041 a0001c0001t0002g0018 a0001c0001t0007g0041	2	226	0.0089	42	c.137 others(63): Show c.1373-18416_1373-18415insATACATATGCATGTATATGTACGT ATACGTACATATACATAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	306	0.0033	42	c.161 others(61): Show c.1614+1906_1614+1907insAAAAAAAAAAAAAATATATATATATA TATATATATATATATA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38			chr12	TogoVar
ADAMTS3_chr4_72275969_72574221	72550008	A A	AAGGAGAA others(35): Show AAGGAGAAGGAGAAGGAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18942.hp1 NA18950.hp2 others(4): Show HG02027.hp2 NA18942.hp1 NA18950.hp2 NA18962.hp1 NA18971.hp2 NA18977.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0020	a0001c0001t0001g0141 a0001c0001t0002g0048 a0001c0001t0002g0049 others(4): Show a0001c0001t0001g0141 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0005g0012 a0001c0001t0020g0047	7	182	0.0385	42	c.98- others(57): Show c.98-1125_98-1124insCCTTCTCCTTCTCCTTCTCCTTCTCCTCCT TCTCCTTCTCCT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550014	A A	AAGGAGAA others(35): Show AAGGAGAAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01175.hp2 NA18998.hp1 others(1): Show HG00609.hp2 HG01175.hp2 NA18998.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0023	a0001c0001t0001g0108 a0001c0001t0002g0052 a0001c0001t0016g0013 others(1): Show a0001c0001t0001g0108 a0001c0001t0002g0052 a0001c0001t0016g0013 a0001c0001t0023g0064	4	182	0.0220	42	c.98- others(57): Show c.98-1131_98-1130insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTCCTTCTCCT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550114	A A	AGAAGAAG others(35): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0131 a0002c0002t0004g0131	1	182	0.0055	42	c.98- others(57): Show c.98-1231_98-1230insCTCCTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTSL2_chr9_133529704_133580519	133564314	A A	AAGAGAGA others(35): Show AAGAGAGAGGGAGAGAGAGAAAGAGAGAGAAAGAGAGAGGGAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0016 a0002c0009t0001g0016	1	152	0.0066	42	c.174 others(61): Show c.1748-2603_1748-2562dupAAAGAGAGAGAAAGAGAGAGGGAGAG AGAGAGGGAGAGAGAG	ADAMTSL2	ENSG00000197859.11	transcript	ENST00000651351.2	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL3_chr15_83649123_84044842	83674766	C C	CATATATA others(35): Show CATATATACACACATATATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01099.hp1 others(17): Show HG00738.hp2 HG01069.hp2 HG01099.hp1 HG01099.hp2 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG02004.hp2 HG02451.hp1 HG03130.hp2 HG03654.hp2 HG03669.hp2 HG06807.hp1 NA18522.hp2 NA18950.hp1 NA18957.hp1 NA19043.hp2 NA19063.hp2 NA20805.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009	a0001c0001 a0001c0058 a0002c0002 others(7): Show a0001c0001 a0001c0058 a0002c0002 a0002c0016 a0002c0054 a0003c0003 a0005c0005 a0006c0006 a0008c0011 a0009c0009	a0001c0001t0001 a0001c0001t0006 a0001c0058t0001 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0058t0001 a0002c0002t0001 a0002c0016t0001 a0002c0054t0001 a0003c0003t0001 a0005c0005t0002 a0006c0006t0001 a0008c0011t0001 a0009c0009t0001	a0001c0001t0001g0053 a0001c0001t0006g0136 a0001c0058t0001g0031 others(17): Show a0001c0001t0001g0053 a0001c0001t0006g0136 a0001c0058t0001g0031 a0002c0002t0001g0012 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0118 a0002c0016t0001g0125 a0002c0016t0001g0126 a0002c0054t0001g0024 a0003c0003t0001g0147 a0005c0005t0002g0007 a0005c0005t0002g0015 a0005c0005t0002g0016 a0005c0005t0002g0027 a0006c0006t0001g0109 a0008c0011t0001g0005 a0008c0011t0001g0008 a0008c0011t0001g0030 a0009c0009t0001g0006	20	274	0.0730	42	c.69+ others(59): Show c.69+18943_69+18944insCACACATATATACATATATATATATATA TATATATATATATA	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83801651	A A	AATATAAA others(35): Show AATATAAATATATATATATATATATATATATAAATATAAATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0246 a0003c0003t0001g0246	1	274	0.0037	42	c.318 others(59): Show c.318-2994_318-2993insAATATATATATATATATATATATATAAA TATAAATATATATA	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903920	A A	AGGAAGGA others(35): Show AGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 NA18962.hp1 others(5): Show HG00099.hp2 HG00544.hp1 NA18962.hp1 NA18969.hp1 NA18986.hp1 NA19058.hp2 NA19068.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0206 a0001c0001t0001g0207 others(5): Show a0001c0001t0001g0146 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0231 a0001c0001t0001g0264	8	274	0.0292	42	c.170 others(61): Show c.1700+4189_1700+4190insGGAAGGAAGGAAGGAAGGGAGGGAGG GAGGGAGGGAGGAAGG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29			chr15	TogoVar
ADARB1_chr21_45069580_45231560	45074598	T T	TGGCGGCG others(35): Show TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0127 a0001c0002t0127	a0001c0002t0127g0185 a0001c0002t0127g0185	1	350	0.0029	42	c.-39 others(51): Show c.-391_-390insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGC	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	1/11	97034	INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB2_chr10_1172313_1742525	1239212	T T	TCCCTCCC others(35): Show TCCCTCCCGGTGTTCACTCCCCTCTGCATCCCGGTGTTTACTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0006 a0009c0010t0006	a0009c0010t0006g0014 a0009c0010t0006g0014	1	106	0.0094	42	c.136 others(61): Show c.1361+2918_1361+2919insGAGTAAACACCGGGATGCAGAGGGGA GTGAACACCGGGAGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239212	T T	TGCATCCC others(35): Show TGCATCCCGGTGTTTACTCCCCTCTCCCTCCCAGTGTTTACTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02055.hp1 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0043 a0002c0002t0005g0033 a0002c0002t0002g0043 a0002c0002t0005g0033	2	106	0.0189	42	c.136 others(61): Show c.1361+2918_1361+2919insGAGTAAACACTGGGAGGGAGAGGGGA GTAAACACCGGGATGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239212	T T	TGTCTCCC others(35): Show TGTCTCCCGGTGTTTACTCCCCTCTGTCTCCCGGTGTTTACTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0043 a0002c0002t0043	a0002c0002t0043g0053 a0002c0002t0043g0053	1	106	0.0094	42	c.136 others(61): Show c.1361+2918_1361+2919insGAGTAAACACCGGGAGACAGAGGGGA GTAAACACCGGGAGAC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239216	T T	TCCCGGTG others(35): Show TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0050 a0002c0002t0002g0050	1	106	0.0094	42	c.136 others(61): Show c.1361+2914_1361+2915insGGGGGAGTAAACACCGGGAGGGAGAG GGGAGTAAACACCGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1293228	G G	GGGAGGGA others(35): Show GGGAGGGAGAGAGGGACGGGGGGAGAGGGACAGAGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG00639.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0048 a0002c0002t0027 a0002c0002t0048	a0002c0002t0027g0021 a0002c0002t0048g0068 a0002c0002t0027g0021 a0002c0002t0048g0068	2	106	0.0189	42	c.107 others(63): Show c.1078-22201_1078-22160dupTTCCCTCCCTCTGTCCCTCTCCCC CCGTCCCTCTCTCCCTCC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1340069	C C	CCCACCAG others(35): Show CCCACCAGAGAACCACGCGCCCCACAGCGGCAATAACCAGCAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0051 a0001c0001t0051g0051	1	106	0.0094	42	c.107 others(63): Show c.1077+22958_1077+22959insATGCTGGTTATTGCCGCTGTGGGG CGCGTGGTTCTCTGGTGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1340255	A A	ACCCCACA others(35): Show ACCCCACAGCGGCAATAACCGGCATCCACCAGAGAACCACGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0051 a0001c0001t0051g0051	1	106	0.0094	42	c.107 others(63): Show c.1077+22772_1077+22773insCACGTGGTTCTCTGGTGGATGCCG GTTATTGCCGCTGTGGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1340255	A A	ACCCCACA others(35): Show ACCCCACAGTGGCAATAACCGGCATCCACCAGAGAACCACGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG02055.hp1 others(5): Show HG00639.hp2 HG01081.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 NA18522.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0022 a0001c0001t0029 a0002c0002t0002 others(3): Show a0001c0001t0022 a0001c0001t0029 a0002c0002t0002 a0002c0002t0005 a0002c0002t0027 a0002c0002t0048	a0001c0001t0022g0015 a0001c0001t0029g0031 a0002c0002t0002g0043 others(5): Show a0001c0001t0022g0015 a0001c0001t0029g0031 a0002c0002t0002g0043 a0002c0002t0002g0067 a0002c0002t0005g0022 a0002c0002t0005g0033 a0002c0002t0027g0021 a0002c0002t0048g0068	8	106	0.0755	42	c.107 others(63): Show c.1077+22772_1077+22773insCACGTGGTTCTCTGGTGGATGCCG GTTATTGCCACTGTGGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1340275	G G	GGCATCCA others(35): Show GGCATCCACCAGAGAACCACGCGCCCCACAGCGGCAATAACCA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03041.hp1 HG03139.hp2 others(1): Show HG02717.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0017 a0001c0001t0019 a0001c0003t0032 others(1): Show a0001c0001t0017 a0001c0001t0019 a0001c0003t0032 a0001c0003t0039	a0001c0001t0017g0030 a0001c0001t0019g0038 a0001c0003t0032g0071 others(1): Show a0001c0001t0017g0030 a0001c0001t0019g0038 a0001c0003t0032g0071 a0001c0003t0039g0044	4	106	0.0377	42	c.107 others(63): Show c.1077+22752_1077+22753insTGGTTATTGCCGCTGTGGGGCGCG TGGTTCTCTGGTGGATGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar

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Search Results (Total: 5093 hits)