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
AADACL2_chr3_151728927_151766339	151732597	A A	AGAGTCTA others(38): Show AGAGTCTAAGGGCATAGGAACTAGGAGCTCTGATATCCAAGGGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00438.hp1 others(51): Show HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00621.hp2 HG01891.hp2 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02647.hp2 HG02723.hp1 HG02738.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03540.hp2 HG03834.hp2 NA18944.hp1 NA18946.hp2 NA18966.hp1 NA18969.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp2 NA18984.hp1 NA18987.hp1 NA18998.hp1 NA19004.hp1 NA19043.hp2 NA19075.hp1 NA19076.hp1 NA19081.hp1 NA19086.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0021 a0001c0001t0023 a0001c0001t0027 a0001c0001t0030 a0001c0001t0048 a0001c0001t0049 a0002c0002t0003	a0001c0001t0001g0037 a0001c0001t0003g0002 a0001c0001t0003g0036 others(24): Show a0001c0001t0001g0037 a0001c0001t0003g0002 a0001c0001t0003g0036 a0001c0001t0003g0059 a0001c0001t0003g0063 a0001c0001t0006g0065 a0001c0001t0007g0002 a0001c0001t0007g0012 a0001c0001t0007g0035 a0001c0001t0007g0062 a0001c0001t0008g0002 a0001c0001t0008g0032 a0001c0001t0008g0035 a0001c0001t0008g0036 a0001c0001t0008g0064 a0001c0001t0008g0068 a0001c0001t0013g0002 a0001c0001t0013g0066 a0001c0001t0021g0002 a0001c0001t0021g0057 a0001c0001t0023g0034 a0001c0001t0027g0034 a0001c0001t0030g0032 a0001c0001t0030g0067 a0001c0001t0048g0060 a0001c0001t0049g0002 a0002c0002t0003g0002	54	428	0.1262	45	c.-14 others(56): Show c.-1439_-1438insGAGTCTAAGGGCATAGGAACTAGGAGCTCTGATA TCCAAGGGCAG	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding		1329		chr3	TogoVar
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(38): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0144 a0002c0002t0013g0144	1	298	0.0034	45	c.236 others(64): Show c.2365+2826_2365+2827insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
ABCA10_chr17_69143007_69233824	69177971	A A	ATATATAT others(38): Show ATATATATATATATATATATGTTATATATATATATATATATATGTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02717.hp1 NA18955.hp1 others(3): Show HG00609.hp1 HG02717.hp1 NA18955.hp1 NA18981.hp2 NA19054.hp1 NA19083.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0017 a0002c0002t0001g0024 a0002c0002t0001g0228 others(3): Show a0002c0002t0001g0017 a0002c0002t0001g0024 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0231 a0003c0003t0001g0129	6	348	0.0172	45	c.277 others(64): Show c.2770-2459_2770-2458insAACATATATATATATATATATATAAC ATATATATATATATATATA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69177971	A A	ATATATAT others(38): Show ATATATATATATATATATATGTTATATATATATATATATATGTTAT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19079.hp2 NA19063.hp1 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0279 a0002c0002t0001g0018 a0002c0002t0001g0279	2	348	0.0058	45	c.277 others(64): Show c.2770-2459_2770-2458insATAACATATATATATATATATATAAC ATATATATATATATATATA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69177973	A A	AAATATAT others(38): Show AAATATATATATATATATGTTATATATATATATATATATATGTTAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0148 a0003c0003t0001g0148	1	348	0.0029	45	c.277 others(64): Show c.2770-2461_2770-2460insATAACATATATATATATATATATATA ACATATATATATATATATT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69177973	A A	ATATATAT others(38): Show ATATATATATATATATATGTTATATATATATATATATATATGTTAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01516.hp1 HG03669.hp1 others(1): Show HG01256.hp1 HG01516.hp1 HG03669.hp1 HG04228.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0088 a0003c0003t0001g0094 a0003c0003t0001g0110 others(1): Show a0003c0003t0001g0088 a0003c0003t0001g0094 a0003c0003t0001g0110 a0003c0003t0001g0249	4	348	0.0115	45	c.277 others(64): Show c.2770-2461_2770-2460insATAACATATATATATATATATATATA ACATATATATATATATATA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38			chr17	TogoVar
ABCA13_chr7_48166458_48652497	48411291	C C	CTTCTTTT others(38): Show CTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0087 a0087	a0087c0039 a0087c0039	a0087c0039t0001 a0087c0039t0001	a0087c0039t0001g0003 a0087c0039t0001g0003	1	178	0.0056	45	c.122 others(64): Show c.12228+650_12228+651insTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA4_chr1_93987834_94126148	93998744	T T	TTTATTTT others(38): Show TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0040 a0005c0040	a0005c0040t0001 a0005c0040t0001	a0005c0040t0001g0125 a0005c0040t0001g0125	1	306	0.0033	45	c.648 others(62): Show c.6480-635_6480-634insCATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	47/49			chr1	TogoVar
ABCA8_chr17_68862289_68960392	68887925	T T	TATCCATA others(38): Show TATCCATATATATATTATATATGGATATATATGGATATATATATTA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02896.hp1 HG03139.hp2 others(2): Show HG02129.hp2 HG02896.hp1 HG03139.hp2 HG03209.hp2 HG03540.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0002 a0003c0033 a0008c0039 a0001c0002 a0003c0033 a0008c0039	a0001c0002t0001 a0003c0033t0001 a0008c0039t0001 a0001c0002t0001 a0003c0033t0001 a0008c0039t0001	a0001c0002t0001g0027 a0001c0002t0001g0036 a0001c0002t0001g0183 others(2): Show a0001c0002t0001g0027 a0001c0002t0001g0036 a0001c0002t0001g0183 a0003c0033t0001g0056 a0008c0039t0001g0154	5	274	0.0183	45	c.314 others(62): Show c.3145-420_3145-419insTAATATATATATCCATATATATCCATAT ATAATATATATATGGAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	24/39			chr17	TogoVar
ABCB1_chr7_87498017_87605884	87502487	T T	TTATATAA others(38): Show TTATATAATTATATATATTATATATATAATTATATATATATAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0030 a0002c0010t0003g0030	1	352	0.0028	45	c.17 others(56): Show c.1755_*1756insTAATTATATATATATAATTATATATATAATATAT ATAATTATATA	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding		529		chr7	TogoVar
ABCB4_chr7_87396696_87480680	87468941	T T	TAAATAAA others(38): Show TAAATAAAATAAGACAAAATAAGATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03041.hp1 HG03471.hp1 HG02818.hp2 HG03041.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0027 a0001c0002 a0002c0027	a0001c0002t0001 a0002c0027t0001 a0001c0002t0001 a0002c0027t0001	a0001c0002t0001g0251 a0001c0002t0001g0252 a0002c0027t0001g0256 a0001c0002t0001g0251 a0001c0002t0001g0252 a0002c0027t0001g0256	3	290	0.0103	45	c.135 others(62): Show c.135+3679_135+3680insTATTTTATTTTATTTTATTTTATCTTAT TTTGTCTTATTTTATTT	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	3/27			chr7	TogoVar
ABCB4_chr7_87396696_87480680	87468941	T T	TAAATAAA others(38): Show TAAATAAAATAAGATAAAATAAGATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01978.hp2 HG02004.hp1 others(16): Show HG01943.hp1 HG01978.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02451.hp2 HG02647.hp2 HG02818.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03942.hp2 NA18747.hp1 NA18969.hp1 NA19011.hp1 NA19043.hp1 NA19058.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0001c0007 others(3): Show a0001c0002 a0001c0006 a0001c0007 a0002c0004 a0002c0005 a0002c0021	a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 others(3): Show a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 a0002c0004t0001 a0002c0005t0001 a0002c0021t0001	a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0006t0001g0242 others(15): Show a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0006t0001g0242 a0001c0007t0001g0047 a0001c0007t0001g0048 a0001c0007t0001g0049 a0001c0007t0001g0050 a0002c0004t0001g0009 a0002c0004t0001g0044 a0002c0004t0001g0045 a0002c0004t0001g0057 a0002c0004t0001g0058 a0002c0004t0001g0095 a0002c0005t0001g0035 a0002c0005t0001g0036 a0002c0005t0001g0046 a0002c0005t0001g0051 a0002c0021t0001g0107	19	290	0.0655	45	c.135 others(62): Show c.135+3679_135+3680insTATTTTATTTTATTTTATTTTATCTTAT TTTATCTTATTTTATTT	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	3/27			chr7	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAG others(38): Show GAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	376	0.0027	45	c.-11 others(56): Show c.-1192_-1191insAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50871022	A A	AGAAAGAA others(38): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0044 a0002c0002t0002g0044	1	376	0.0027	45	c.-11 others(56): Show c.-1153_-1152insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAGG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1030		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0173 a0001c0002t0007g0173	1	316	0.0032	45	c.422 others(60): Show c.422+943_422+944insAAAAATATATATATATATATATATATATAT ATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABLIM1_chr10_114426112_114663275	114644313	A A	ATATGTAT others(38): Show ATATGTATATATTGTATATATACATATATATGTATATATACAATTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02647.hp1 NA18522.hp1 others(1): Show HG01109.hp1 HG02647.hp1 NA18522.hp1 NA19030.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0002 a0002c0005 a0010c0014 a0001c0002 a0002c0005 a0010c0014	a0001c0002t0020 a0001c0002t0099 a0002c0005t0092 others(1): Show a0001c0002t0020 a0001c0002t0099 a0002c0005t0092 a0010c0014t0084	a0001c0002t0020g0154 a0001c0002t0099g0155 a0002c0005t0092g0156 others(1): Show a0001c0002t0020g0154 a0001c0002t0099g0155 a0002c0005t0092g0156 a0010c0014t0084g0148	4	256	0.0156	45	c.244 others(64): Show c.244+13643_244+13644insCAATTGTATATATACATATATATGTA TATATACAATATATACATA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	1/22			chr10	TogoVar
ABR_chr17_998519_1184981	1036451	A A	ACAAGAAG others(38): Show ACAAGAAGGTGCTGGAGGAGAGCAGGGCGGACCCGAGGCTGGGGGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01884.hp2 HG02145.hp2 others(11): Show HG01261.hp2 HG01884.hp2 HG02145.hp2 HG02572.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0002t0007 a0001c0002t0042 a0001c0002t0060 a0001c0003t0016 a0001c0003t0017 a0001c0003t0021 a0001c0003t0051 a0001c0003t0052 a0001c0004t0024	a0001c0001t0001g0135 a0001c0001t0001g0226 a0001c0001t0006g0118 others(11): Show a0001c0001t0001g0135 a0001c0001t0001g0226 a0001c0001t0006g0118 a0001c0001t0008g0007 a0001c0001t0008g0020 a0001c0002t0007g0295 a0001c0002t0042g0016 a0001c0002t0060g0234 a0001c0003t0016g0163 a0001c0003t0017g0120 a0001c0003t0021g0276 a0001c0003t0051g0106 a0001c0003t0052g0220 a0001c0004t0024g0041	14	337	0.0415	45	c.179 others(66): Show c.1791+13554_1791+13598dupCCCCCCAGCCTCGGGTCCGCCCTG CTCTCCTCCAGCACCTTCTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABTB2_chr11_34145987_34363010	34325950	A A	AAAAATAA others(38): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	246	0.0041	45	c.883 others(64): Show c.883+30706_883+30750dupATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ACACA_chr17_37079992_37411836	37099530	A A	AGGAGGGC others(38): Show AGGAGGGCTGATGGCGGGAGGGCTGAGGGATGGAGGGCTGATGGCG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0296 a0001c0001t0032g0296	1	299	0.0033	45	c.656 others(64): Show c.6566-1547_6566-1546insCGCCATCAGCCCTCCATCCCTCAGCC CTCCCGCCATCAGCCCTCC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	52/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37099530	A A	AGGAGGGT others(38): Show AGGAGGGTTGATGGGAGGAGGGCTGATGGTGGGAGGGCTGAGGGAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00735.hp1 HG00438.hp2 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0223 a0001c0001t0001g0200 a0001c0001t0001g0223	2	299	0.0067	45	c.656 others(64): Show c.6566-1547_6566-1546insATCCCTCAGCCCTCCCACCATCAGCC CTCCTCCCATCAACCCTCC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	52/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTTTATAT others(38): Show TTTTATATATATATATATTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18977.hp1 NA19005.hp1 HG01106.hp2 NA18977.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0150 a0001c0002t0001g0154 a0001c0002t0001g0113 a0001c0002t0001g0150 a0001c0002t0001g0154	3	299	0.0100	45	c.38+ others(62): Show c.38+15957_38+15958insTATATATATATATATATATATATATATA ATATATATATATATAAA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACER1_chr19_6301142_6338612	6321931	T T	TGGATCAC others(38): Show TGGATCACTGCTGTGTCCTCAGAGCCTGGAGCAGAGCCTGGTGCTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0346 a0001c0001t0001g0346	1	396	0.0025	45	c.94- others(60): Show c.94-9477_94-9433dupGAGCACCAGGCTCTGCTCCAGGCTCTGAGG ACACAGCAGTGATCC	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ACER1_chr19_6301142_6338612	6329356	T T	TATAGAAT others(38): Show TATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	396	0.0025	45	c.93+ others(60): Show c.93+4058_93+4102dupTCTATTCTATTCTATTCTATTCTATTCTAT TCTATTCTATTCTAT	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ACSS3_chr12_81073079_81266210	81213840	T T	TCTCTTCT others(38): Show TCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTCCTCTC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0276 a0003c0007t0005g0276	1	290	0.0035	45	c.135 others(64): Show c.1355-3057_1355-3056insTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTTCTCTCCTCTCCTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTG2_chr2_73888008_73924865	73923641	C C	CAAGAAAA others(38): Show CAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03225.hp1 HG01884.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0004 a0001c0001t0005 a0001c0002t0004	a0001c0001t0005g0392 a0001c0002t0004g0006 a0001c0001t0005g0392 a0001c0002t0004g0006	2	416	0.0048	45	c.40 others(56): Show c.4066_*4067insAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding		3777		chr2	TogoVar
ACTN4_chr19_38642649_38736589	38735767	G G	GGGGGCGG others(38): Show GGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGCGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0284 a0001c0001t0017g0284	1	314	0.0032	45	c.63 others(56): Show c.6335_*6336insGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG GTTCTGCGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4179		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735843	G G	GGGGCGGG others(38): Show GGGGCGGGGCGGGGGTTCTGCGGGCGGGGCGGGGCGGTGGTTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0302 a0001c0001t0016g0302	1	314	0.0032	45	c.64 others(56): Show c.6411_*6412insGGGCGGGGCGGGGGTTCTGCGGGCGGGGCGGGGC GGTGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4255		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735912	C C	CGGGGCGG others(38): Show CGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	314	0.0032	45	c.64 others(56): Show c.6480_*6481insGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG CGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4324		chr19	TogoVar
ACTRT3_chr3_169761921_169774561	169770352	A A	ATATATTT others(38): Show ATATATTTATATTTATTATATGTATAAATATAAATATATAAAAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01192.hp1 HG01256.hp1 others(49): Show HG00735.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG02040.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0006 a0006c0010 a0001c0001 a0004c0006 a0006c0010	a0001c0001t0001 a0004c0006t0001 a0006c0010t0001 a0001c0001t0001 a0004c0006t0001 a0006c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0036 a0004c0006t0001g0017 a0006c0010t0001g0035	52	418	0.1244	45	c.-83 others(54): Show c.-833_-832insAATTTTTATATATTTATATTTATACATATAATAAAT ATAAATATA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		792		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770455	T T	TATTATAT others(38): Show TATTATATGTATAAATATAAATATATAAAAATATATTTATTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	418	0.0024	45	c.-93 others(54): Show c.-936_-935insCATATAATAAATATATTTTTATATATTTATATTTAT ACATATAAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		895		chr3	TogoVar
ACYP2_chr2_53966113_54310300	54197942	A A	ATATTGTA others(38): Show ATATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTG	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0161 a0001c0001t0004g0161	1	272	0.0037	45	c.404 others(64): Show c.404+59244_404+59288dupGTATTGTATTGTATTGTATTGTATTG TATTGTATTGTATTGTATT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0131 a0002c0011t0002g0131	1	408	0.0025	45	c.973 others(60): Show c.973-422_973-421insATATATATATATATATATATATATATATAT ATATTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(38): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0180 a0002c0002t0009g0180	1	408	0.0025	45	c.973 others(60): Show c.973-422_973-421insATATATATATATATATATATATATATATAT ATATATTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADAM12_chr10_126007391_126393477	126121102	T T	TTATATAT others(38): Show TTATATATAGTATATATAGTATATATAGTATATATAGTATATATAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02132.hp1 HG02165.hp1 others(16): Show HG00423.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02896.hp1 HG02897.hp2 HG03688.hp2 HG04228.hp2 NA18942.hp2 NA18944.hp2 NA18980.hp2 NA18982.hp2 NA18989.hp2 NA19002.hp2 NA19011.hp1 NA19084.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0015	a0001c0002 a0001c0003 a0001c0013 others(7): Show a0001c0002 a0001c0003 a0001c0013 a0002c0001 a0002c0016 a0002c0054 a0003c0029 a0004c0022 a0007c0056 a0015c0035	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(12): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0003 a0001c0013t0001 a0002c0001t0001 a0002c0001t0032 a0002c0016t0001 a0002c0016t0029 a0002c0054t0001 a0003c0029t0005 a0004c0022t0002 a0004c0022t0020 a0007c0056t0028 a0015c0035t0003	a0001c0002t0001g0044 a0001c0002t0001g0097 a0001c0002t0001g0212 others(16): Show a0001c0002t0001g0044 a0001c0002t0001g0097 a0001c0002t0001g0212 a0001c0002t0002g0186 a0001c0002t0005g0210 a0001c0003t0003g0025 a0001c0013t0001g0023 a0001c0013t0001g0026 a0001c0013t0001g0027 a0002c0001t0001g0200 a0002c0001t0032g0003 a0002c0016t0001g0118 a0002c0016t0029g0004 a0002c0054t0001g0011 a0003c0029t0005g0037 a0004c0022t0002g0168 a0004c0022t0020g0167 a0007c0056t0028g0002 a0015c0035t0003g0171	19	252	0.0754	45	c.417 others(62): Show c.417-2879_417-2878insCTATATATACTATATATACTATATATAC TATATATACTATATATA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	5/22			chr10	TogoVar
ADAM17_chr2_9483486_9560830	9520964	C C	CAAAAAAA others(38): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	234	0.0043	45	c.957 others(60): Show c.957+238_957+239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	8/18			chr2	TogoVar
ADAM17_chr2_9483486_9560830	9521840	T T	TCTTCCCT others(38): Show TCTTCCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0042 a0002c0003t0042	a0002c0003t0042g0057 a0002c0003t0042g0057	1	234	0.0043	45	c.844 others(60): Show c.844-525_844-524insGCAGGCAGGCAGGCAGGCAGGCAGGCAGGC AGGCAGGCAGGGAAG	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	7/18			chr2	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03490.hp2 HG00673.hp1 HG03490.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0002c0002t0002 a0001c0001t0012 a0002c0002t0002	a0001c0001t0012g0094 a0002c0002t0002g0182 a0001c0001t0012g0094 a0002c0002t0002g0182	2	230	0.0087	45	c.324 others(64): Show c.324-36161_324-36160insAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATATATATATA	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(38): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA19074.hp1 HG02015.hp1 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0013 a0002c0002t0001g0123 a0001c0001t0001g0013 a0002c0002t0001g0123	2	230	0.0087	45	c.324 others(64): Show c.324-36161_324-36160insAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATATATATA	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(38): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA20300.hp1 HG00140.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0160 a0002c0002t0002g0183 a0001c0001t0002g0160 a0002c0002t0002g0183	2	230	0.0087	45	c.324 others(64): Show c.324-36161_324-36160insAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM33_chr20_3662975_3687010	3667833	G G	GCCACCAC others(38): Show GCCACCACCCCGTCAGCCACCACCCCACCAACCACCACCCCGCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0014 a0014	a0014c0044 a0014c0044	a0014c0044t0004 a0014c0044t0004	a0014c0044t0004g0129 a0014c0044t0004g0129	1	462	0.0022	45	c.11 others(56): Show c.1129_*1130insTTGGCGGGGTGGTGGTTGGTGGGGTGGTGGCTGA CGGGGTGGTGG	ADAM33	ENSG00000149451.19	transcript	ENST00000356518.7	protein_coding		141		chr20	TogoVar
ADAMTS13_chr9_133417367_133464386	133460459	A A	AGGGCGGG others(38): Show AGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGCGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01978.hp1 HG02300.hp1 HG00738.hp1 HG01978.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0096 a0002c0002t0001g0110 a0002c0002t0001g0076 a0002c0002t0001g0096 a0002c0002t0001g0110	3	364	0.0082	45	c.12 others(56): Show c.1279_*1280insGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGG GGGCGGGGGGG	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding		1074		chr9	TogoVar
ADAMTS18_chr16_77277128_77440034	77285455	G G	GAGGCACA others(38): Show GAGGCACACCCCCGGCCATTTTACTGTATTTTTAAGGCACAGTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0005 a0011c0011t0005	a0011c0011t0005g0004 a0011c0011t0005g0004	1	326	0.0031	45	c.355 others(64): Show c.3551-1429_3551-1385dupAAAACTGTGCCTTAAAAATACAGTAA AATGGCCGGGGGTGTGCCT	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	22/22			chr16	TogoVar
ADAMTS18_chr16_77277128_77440034	77290936	A A	AAAGACTC others(38): Show AAAGACTCGAGTGGTAGTTTCCGTAGCAACAGCAATGACCAACATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00558.hp2 others(41): Show HG00280.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG00741.hp2 HG01074.hp1 HG01106.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01943.hp2 HG02027.hp1 HG02083.hp2 HG02129.hp2 HG02148.hp1 HG02165.hp1 HG02300.hp1 HG02602.hp2 HG03017.hp2 HG03239.hp2 HG03490.hp2 HG03654.hp1 HG03710.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18747.hp2 NA18948.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18977.hp2 NA18986.hp2 NA18993.hp2 NA18994.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19012.hp2 NA19054.hp2 NA19081.hp1 NA19087.hp1	a0001 a0006 a0007 others(5): Show a0001 a0006 a0007 a0008 a0010 a0018 a0028 a0030	a0001c0023 a0001c0025 a0006c0005 others(9): Show a0001c0023 a0001c0025 a0006c0005 a0006c0061 a0007c0021 a0008c0008 a0008c0040 a0010c0013 a0018c0031 a0018c0063 a0028c0039 a0030c0044	a0001c0023t0003 a0001c0025t0003 a0006c0005t0003 others(12): Show a0001c0023t0003 a0001c0025t0003 a0006c0005t0003 a0006c0005t0012 a0006c0005t0037 a0006c0061t0003 a0007c0021t0002 a0008c0008t0003 a0008c0040t0003 a0010c0013t0003 a0018c0031t0003 a0018c0031t0039 a0018c0063t0008 a0028c0039t0003 a0030c0044t0003	a0001c0023t0003g0172 a0001c0023t0003g0174 a0001c0025t0003g0264 others(41): Show a0001c0023t0003g0172 a0001c0023t0003g0174 a0001c0025t0003g0264 a0001c0025t0003g0278 a0006c0005t0003g0032 a0006c0005t0003g0036 a0006c0005t0003g0077 a0006c0005t0003g0120 a0006c0005t0003g0143 a0006c0005t0003g0157 a0006c0005t0003g0204 a0006c0005t0003g0238 a0006c0005t0003g0248 a0006c0005t0003g0269 a0006c0005t0003g0270 a0006c0005t0003g0277 a0006c0005t0003g0300 a0006c0005t0003g0303 a0006c0005t0003g0313 a0006c0005t0012g0056 a0006c0005t0037g0299 a0006c0061t0003g0314 a0007c0021t0002g0131 a0008c0008t0003g0017 a0008c0008t0003g0040 a0008c0008t0003g0064 a0008c0008t0003g0080 a0008c0008t0003g0081 a0008c0008t0003g0082 a0008c0008t0003g0113 a0008c0008t0003g0138 a0008c0008t0003g0145 a0008c0008t0003g0190 a0008c0008t0003g0201 a0008c0008t0003g0279 a0008c0008t0003g0289 a0008c0008t0003g0290 a0008c0040t0003g0109 a0010c0013t0003g0301 a0018c0031t0003g0097 a0018c0031t0039g0266 a0018c0063t0008g0038 a0028c0039t0003g0262 a0030c0044t0003g0114	44	326	0.1350	45	c.340 others(62): Show c.3402+285_3402+329dupAATGTTGGTCATTGCTGTTGCTACGGAA ACTACCACTCGAGTCTT	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	21/22			chr16	TogoVar
ADAMTS2_chr5_179105853_179350461	179264954	G G	GCTGACCC others(38): Show GCTGACCCCTGCACCAACAGCAGCATGCCGGGCGGGGCTGAGCACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0122	1	276	0.0036	45	c.688 others(62): Show c.688+7912_688+7956dupTGTGCTCAGCCCCGCCCGGCATGCTGCT GTTGGTGCAGGGGTCAG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179264989	G G	GGCTGAGC others(38): Show GGCTGAGCACACTGACCCCTGCACCAACAGCAGCATGCCGGGTGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(67): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG01074.hp2 HG01099.hp1 HG01167.hp1 HG01167.hp2 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG02004.hp2 HG02083.hp1 HG02145.hp2 HG02165.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02735.hp2 HG02886.hp1 HG02896.hp2 HG02970.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18957.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18982.hp2 NA18998.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp2 NA19074.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0017 a0022 a0030 a0034	a0001c0001 a0001c0004 a0001c0014 others(41): Show a0001c0001 a0001c0004 a0001c0014 a0001c0022 a0001c0035 a0001c0046 a0001c0048 a0001c0051 a0001c0064 a0001c0065 a0001c0068 a0001c0069 a0002c0002 a0002c0007 a0002c0012 a0002c0017 a0002c0030 a0002c0042 a0002c0058 a0003c0003 a0004c0006 a0004c0102 a0004c0103 a0005c0015 a0005c0019 a0005c0033 a0005c0073 a0006c0009 a0006c0056 a0006c0061 a0007c0005 a0008c0010 a0009c0021 a0010c0036 a0010c0078 a0010c0079 a0011c0020 a0012c0055 a0014c0038 a0015c0086 a0017c0027 a0022c0089 a0030c0085 a0034c0066	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0024 a0001c0004t0004 a0001c0014t0002 a0001c0022t0002 a0001c0035t0004 a0001c0046t0002 a0001c0048t0004 a0001c0051t0001 a0001c0064t0001 a0001c0065t0002 a0001c0068t0001 a0001c0069t0002 a0002c0002t0001 a0002c0002t0004 a0002c0002t0022 a0002c0007t0002 a0002c0012t0001 a0002c0012t0007 a0002c0012t0013 a0002c0017t0001 a0002c0030t0008 a0002c0042t0001 a0002c0058t0002 a0003c0003t0001 a0003c0003t0002 a0004c0006t0004 a0004c0102t0001 a0004c0103t0002 a0005c0015t0005 a0005c0019t0003 a0005c0033t0003 a0005c0073t0003 a0006c0009t0003 a0006c0056t0003 a0006c0061t0003 a0007c0005t0003 a0008c0010t0003 a0009c0021t0009 a0010c0036t0004 a0010c0078t0001 a0010c0079t0011 a0011c0020t0003 a0012c0055t0001 a0014c0038t0002 a0015c0086t0004 a0017c0027t0004 a0022c0089t0006 a0030c0085t0002 a0034c0066t0004	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0054 others(67): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0054 a0001c0001t0001g0067 a0001c0001t0002g0036 a0001c0001t0004g0064 a0001c0001t0006g0094 a0001c0001t0024g0055 a0001c0004t0004g0004 a0001c0004t0004g0144 a0001c0004t0004g0157 a0001c0004t0004g0187 a0001c0014t0002g0131 a0001c0022t0002g0102 a0001c0035t0004g0022 a0001c0046t0002g0194 a0001c0048t0004g0195 a0001c0051t0001g0182 a0001c0064t0001g0057 a0001c0065t0002g0118 a0001c0068t0001g0023 a0001c0069t0002g0046 a0002c0002t0001g0008 a0002c0002t0001g0086 a0002c0002t0001g0113 a0002c0002t0004g0006 a0002c0002t0004g0107 a0002c0002t0004g0123 a0002c0002t0022g0136 a0002c0007t0002g0034 a0002c0007t0002g0038 a0002c0007t0002g0082 a0002c0007t0002g0097 a0002c0012t0001g0056 a0002c0012t0007g0120 a0002c0012t0013g0071 a0002c0017t0001g0189 a0002c0030t0008g0121 a0002c0042t0001g0145 a0002c0058t0002g0068 a0003c0003t0001g0224 a0003c0003t0002g0237 a0004c0006t0004g0228 a0004c0006t0004g0270 a0004c0102t0001g0251 a0004c0103t0002g0235 a0005c0015t0005g0076 a0005c0019t0003g0152 a0005c0033t0003g0139 a0005c0073t0003g0142 a0006c0009t0003g0078 a0006c0009t0003g0079 a0006c0056t0003g0106 a0006c0061t0003g0039 a0007c0005t0003g0222 a0008c0010t0003g0241 a0008c0010t0003g0245 a0009c0021t0009g0093 a0010c0036t0004g0063 a0010c0078t0001g0017 a0010c0079t0011g0018 a0011c0020t0003g0047 a0011c0020t0003g0124 a0012c0055t0001g0019 a0014c0038t0002g0219 a0015c0086t0004g0201 a0017c0027t0004g0098 a0022c0089t0006g0217 a0030c0085t0002g0202 a0034c0066t0004g0099	70	276	0.2536	45	c.688 others(62): Show c.688+7921_688+7922insTCCACCCGGCATGCTGCTGTTGGTGCAG GGGTCAGTGTGCTCAGC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179265045	C C	CTGACCCC others(38): Show CTGACCCCTGCACCAACAGCAGCATGCCGGGTGGAGCTGAGCACAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp1 HG02258.hp1 others(14): Show HG01243.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0013 a0015 a0020 a0028 a0032	a0001c0014 a0001c0049 a0001c0052 others(13): Show a0001c0014 a0001c0049 a0001c0052 a0002c0012 a0002c0028 a0002c0043 a0002c0060 a0003c0107 a0004c0039 a0004c0110 a0004c0111 a0013c0037 a0015c0087 a0020c0113 a0028c0112 a0032c0045	a0001c0014t0002 a0001c0014t0013 a0001c0049t0004 others(14): Show a0001c0014t0002 a0001c0014t0013 a0001c0049t0004 a0001c0052t0002 a0002c0012t0001 a0002c0028t0004 a0002c0043t0014 a0002c0060t0001 a0003c0107t0011 a0004c0039t0002 a0004c0110t0002 a0004c0111t0004 a0013c0037t0001 a0015c0087t0001 a0020c0113t0029 a0028c0112t0001 a0032c0045t0003	a0001c0014t0002g0073 a0001c0014t0013g0112 a0001c0049t0004g0149 others(14): Show a0001c0014t0002g0073 a0001c0014t0013g0112 a0001c0049t0004g0149 a0001c0052t0002g0148 a0002c0012t0001g0060 a0002c0028t0004g0119 a0002c0043t0014g0193 a0002c0060t0001g0091 a0003c0107t0011g0212 a0004c0039t0002g0204 a0004c0110t0002g0205 a0004c0111t0004g0211 a0013c0037t0001g0048 a0015c0087t0001g0200 a0020c0113t0029g0276 a0028c0112t0001g0206 a0032c0045t0003g0171	17	276	0.0616	45	c.688 others(62): Show c.688+7865_688+7866insATGTGCTCAGCTCCACCCGGCATGCTGC TGTTGGTGCAGGGGTCA	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCGCCCCC others(38): Show CCGCCCCCGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0013 a0002c0007t0002g0013	1	276	0.0036	45	c.535 others(62): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGGGGGCGGTCAGC CTTTGGTCTCGGGGGCG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277979	C C	CCTCCGAG others(38): Show CCTCCGAGACCAAAGGCTGACACCCCCCGAGACCAAAGGCTGACCG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0274 a0003c0003t0001g0274	1	276	0.0036	45	c.535 others(62): Show c.535-4916_535-4915insCGGTCAGCCTTTGGTCTCGGGGGGTGTC AGCCTTTGGTCTCGGAG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72550081	G G	GGAAGAAG others(38): Show GGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	182	0.0055	45	c.98- others(60): Show c.98-1198_98-1197insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCCTCTTCTTCTTC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688689	A A	AAAAATAT others(38): Show AAAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0055 a0001c0008t0004g0055	1	218	0.0046	45	c.157 others(64): Show c.1574+3890_1574+3891insAAATATATATATATATATATATATAT ATATATATATATATATATA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr9	TogoVar

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