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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
RSPH1_chr21_42467486_42501224	42477245	C C	CACACCCT others(294): Show CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTC TGTCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACA GCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACA CCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTC CCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCC GGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCC CT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	408	0.0025	301	c.727 others(314): Show c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC AGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT GGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGT GGGGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAG GGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGG CATCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGG TGGAGGGGGCAGAGGGTGT	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(294): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGC CCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGC CCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGC CCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGC CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0229 a0001c0003t0002g0229	1	376	0.0027	301	c.-58 others(308): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCCGCGCCCGCCCGCCCCCACCCCGCGCG CGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCG CGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCG CGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCC CCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(294): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	210	0.0048	301	c.899 others(316): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SAPCD2_chr9_137057127_137075557	137072796	C C	CGCCTGTA others(294): Show CGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAG GTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAATCCCGTCTCTAC TAAAAATACGAAATTAGCCGGGCATGGTGGCCCATGCCTGTAATCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCCGGAGGTGGAGGT TGCGGTGAGCCAAGATCGCGCCATTGCACTCTAGCCTGGTCAAGAAGAGC AAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGGCTGGGCACGGTGGCTC AT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	414	0.0024	301	c.-23 others(312): Show c.-2337_-2336insATGAGCCACCGTGCCCAGCCTTTTTTTTTTTTTT TTTTTGAGATGGAGTTTTGCTCTTCTTGACCAGGCTAGAGTGCAATGGCG CGATCTTGGCTCACCGCAACCTCCACCTCCGGGGTTCAAGCTATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGGGCCACCATGCCCG GCTAATTTCGTATTTTTAGTAGAGACGGGATTTCTCCATGTTGGTCAGGC TGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAA GTGCTGGGATTACAGGC	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		2240		chr9	TogoVar
SBNO2_chr19_1102638_1179268	1156927	C C	CAGGACCC others(294): Show CAGGACCCGCCACCCCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACC CGCCACCCCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACC CCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGA ACGCCCACCCTCTGCAATCCCCCAGGACCCACCACTCCTGAGAACGCCCA CCCTCTGCAATCCCCCAGGACCCGCCACTCCTGAGAACGCCCACCCTCTG CAATCCCTCAGGACCCGCCACTCCTGAGAACGCCCACCCTCTGCAATCCC TT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	203	0.0049	301	c.-12 others(320): Show c.-126-2526_-126-2525insAAGGGATTGCAGAGGGTGGGCGTTCT CAGGAGTGGCGGGTCCTGAGGGATTGCAGAGGGTGGGCGTTCTCAGGAGT GGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGAGTGGTGGGT CCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGG GATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCA GAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTG GGCGTTCTCAGGGGTGGCGGGTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1156927	C C	CAGGACCC others(294): Show CAGGACCCGCCACCCCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACC CGCCACCCCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACC CCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGA ACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACTCCTGAGAACGCCCA CCCTCTGCAATCCCCCAGGACCCGCCACTCCTGAGAACGCCCACCCTCTG CAATCCCTCAGGACCCGCCACTCCTGAGAACGCCCACCCTCTGCAATCCC TT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01099.hp1 HG01255.hp1 others(5): Show HG00733.hp1 HG01099.hp1 HG01255.hp1 HG02647.hp2 HG03471.hp2 HG04228.hp2 NA20129.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0003c0012	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0002c0003t0001 a0003c0012t0002	a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0002t0001g0018 others(5): Show a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0002t0001g0018 a0001c0002t0001g0126 a0001c0006t0001g0013 a0002c0003t0001g0019 a0002c0003t0001g0020 a0003c0012t0002g0178	8	203	0.0394	301	c.-12 others(320): Show c.-126-2526_-126-2525insAAGGGATTGCAGAGGGTGGGCGTTCT CAGGAGTGGCGGGTCCTGAGGGATTGCAGAGGGTGGGCGTTCTCAGGAGT GGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGAGTGGCGGGT CCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGG GATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCA GAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTG GGCGTTCTCAGGGGTGGCGGGTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1284181	G G	GTGAGGGG others(294): Show GTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGG GTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGG GTTGGGTGAGGGGTTGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGG GTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTG AGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTG AGTGAGGGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGG TT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	290	0.0035	301	c.464 others(314): Show c.464+91_464+92insTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGGGGTTGGGTGAGGGGTTGGTGTTGGGTGAGGGGTT GGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTT GGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGG GTGGGGTGGGGGGGTTGAGTGAGGGGGGTTGGGGTTGGGTGAGGGGGGTG GGGTGTTGGGTGAGGGGTT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17			chr1	TogoVar
SEC16B_chr1_177923788_177975058	177955137	T T	TAAAAAAT others(294): Show TAAAAAATATTCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0019 a0019	a0019c0024 a0019c0024	a0019c0024t0010 a0019c0024t0010	a0019c0024t0010g0054 a0019c0024t0010g0054	1	408	0.0025	301	c.136 others(318): Show c.1366-762_1366-761insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTGGAATATTTTTT	SEC16B	ENSG00000120341.19	transcript	ENST00000308284.11	protein_coding	10/25			chr1	TogoVar
SH3BP1_chr22_37634669_37661117	37656829	A A	AAATTTTT others(294): Show AAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 NA19240.hp2 HG03195.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0002 a0001c0016t0002 a0001c0001t0002 a0001c0016t0002	a0001c0001t0002g0028 a0001c0016t0002g0124 a0001c0001t0002g0028 a0001c0016t0002g0124	2	412	0.0049	301	c.11 others(312): Show c.1145_*1146insAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	SH3BP1	ENSG00000100092.24	transcript	ENST00000649765.2	protein_coding		713		chr22	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(294): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0057 a0001c0001t0048g0057	1	214	0.0047	301	c.691 others(320): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SKI_chr1_2223319_2315213	2281653	A A	AGACAGGC others(294): Show AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG CGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGC GGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATC TTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGAGATCTTCAGAG AGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGAC GCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAG AG	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA18984.hp2 HG02004.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0026 a0001c0001t0001g0029	2	330	0.0061	301	c.970 others(320): Show c.970-21316_970-21315insCGGCGGCGATCTTCAGAGAGAGGACG CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGG CGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGC GGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATC TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAG AGCGGACGCCCGAGAGGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC22A18_chr11_2897278_2930246	2921552	A A	AAGCCTGT others(294): Show AAGCCTGTCCCACCGAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTG TCCCACCGAGCCCATCCCAGGGAGCAGCCTGCGGCCAAGCCTGTCCCACC GAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCA TCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGG GAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGC CTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGC CG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0139 a0002c0002t0001g0139	1	405	0.0025	301	c.865 others(316): Show c.865-534_865-533insTCCATCCCCGGGAGCAGCCTGCGGCCGAGC CTGTCCCACCGAGCCCATCCCAGGGAGCAGCCTGCGGCCAAGCCTGTCCC ACCGAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGC CCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCC CGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGC AGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGC GGCCGAGCCTGTCCCACCGAG	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A18_chr11_2897278_2930246	2921552	A A	AAGCCTGT others(294): Show AAGCCTGTCCCACCGAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTG TCCCACCGAGCCCATCCCAGGGAGCAGCCTGCGGCCGAGCCTGTCCCACC GAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCA TCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGG GAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGC CTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGC CG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0144 a0002c0002t0001g0144	1	405	0.0025	301	c.865 others(316): Show c.865-534_865-533insTCCATCCCCGGGAGCAGCCTGCGGCCGAGC CTGTCCCACCGAGCCCATCCCAGGGAGCAGCCTGCGGCCGAGCCTGTCCC ACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGC CCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCC CGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGC AGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGC GGCCGAGCCTGTCCCACCGAG	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A18_chr11_2897278_2930246	2921552	A A	AAGCCTGT others(294): Show AAGCCTGTCCCACCGAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTG TCCCACCGAGCCCATCCCAGGGAGCAGCCTGCGGCCGAGCCTGTCCCACC GAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCA TCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGG GAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGC CTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGC CG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	405	0.0025	301	c.865 others(316): Show c.865-534_865-533insTCCATCCCCGGGAGCAGCCTGCGGCCGAGC CTGTCCCACCGAGCCCATCCCAGGGAGCAGCCTGCGGCCGAGCCTGTCCC ACCGAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGC CCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCC CGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGC AGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGC GGCCGAGCCTGTCCCACCGAG	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTATATAT others(294): Show GTATATATATACACATAGTATATATATTCTACGTATATATATACACATAG TATATATATTCTACGTGTGTGTATATATATACACATAGTATATATATTCT ACGTGTGTATATATATACACATAGTATATATATTCTACGTGTGTATATAT ATACACATAGTATATATATTCTACGTGTATGTATACACATATATACATAG AATATATATACTATGTATATATATATATACACACGTAGAATATATATACT ATGTGTATATATACGTAGAATATATATACTATGTGTATATATATACGTAG AA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG02818.hp1 others(4): Show HG02055.hp1 HG02559.hp2 HG02818.hp1 HG03098.hp1 HG03209.hp2 HG03540.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0001t0032	a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0008g0010 others(4): Show a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0008g0010 a0001c0001t0008g0014 a0001c0001t0014g0049 a0001c0001t0014g0051 a0001c0001t0032g0018	7	182	0.0385	301	c.174 others(320): Show c.174-83373_174-83372insTACACATAGTATATATATTCTACGTA TATATATACACATAGTATATATATTCTACGTGTGTGTATATATATACACA TAGTATATATATTCTACGTGTGTATATATATACACATAGTATATATATTC TACGTGTGTATATATATACACATAGTATATATATTCTACGTGTATGTATA CACATATATACATAGAATATATATACTATGTATATATATATATACACACG TAGAATATATATACTATGTGTATATATACGTAGAATATATATACTATGTG TATATATATACGTAGAATATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(294): Show TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03130.hp1 HG03516.hp2 HG02970.hp1 HG03130.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0019 a0001c0001t0008g0154 a0001c0001t0008g0019 a0001c0001t0008g0154	3	380	0.0079	301	c.-13 others(318): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGT AGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(294): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTG GGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0157 a0001c0002t0003g0157	1	380	0.0026	301	c.-13 others(318): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCT CAGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATATAAT others(294): Show CATATAATGATATACAATATATATCATTATATAACATAATGATATATATT ATATATCATTATATAACATATAATGATATATATTATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA TATCATTATATAACATATAATGATATATAATATATATCATTATATAACAT ATAATGATATATAATATATATCATTATATAACATATAATGATATATAATA TATATCATTATATAACATATAATGATATATAATATATATCATTATATAAC AT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG00544.hp1 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0164 a0001c0004t0001g0045 a0001c0001t0002g0164 a0001c0004t0001g0045	2	356	0.0056	301	c.-11 others(322): Show c.-112+29091_-112+29092insTAATGATATACAATATATATCATT ATATAACATAATGATATATATTATATATCATTATATAACATATAATGATA TATATTATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATATATCATTATATAACATATAATGATATAT AATATATATCATTATATAACATATAATGATATATAATATATATCATTATA TAACATATAATGATATATAATATATATCATTATATAACATATAATGATAT ATAATATATATCATTATATAACATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TAATGATA others(294): Show TAATGATATATAATATATATCATTATATAACATAATGATATATAATATAT ATCATTATATAACATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATTATATAACATGA TG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0038 a0001c0006t0038	a0001c0006t0038g0187 a0001c0006t0038g0187	1	356	0.0028	301	c.-11 others(322): Show c.-112+29223_-112+29224insATGATATATAATATATATCATTAT ATAACATAATGATATATAATATATATCATTATATAACATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATTATATAACATGATGA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(294): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTT TTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTT GT	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18906.hp2 HG03195.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0328 a0001c0001t0003g0329 a0001c0001t0001g0328 a0001c0001t0003g0329	2	356	0.0056	301	c.245 others(318): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGG CTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAG GCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(294): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGAGG GGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AG	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0114 a0003c0003t0002g0114	1	260	0.0039	301	c.138 others(320): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SS18L1_chr20_62138769_62187514	62166667	A A	ATAATCCC others(294): Show ATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGCCAG GAATTTGAGACCAGCCTGACCAACGTGGCGAAACCCCATCTCTACCAAAA AATACAAATATTAGCTGGCCATGGTGGTGCACGCCTGTAGTCCCAGTTAC TCAGGCGGAGGCGGGAGAATCGCTTAAACCTGGGAAGTGGAGGTTGCAGT GAGCCGAGATCGTGCCACTGCATTCCAGCCTTGCGACAGGATAAGACCCT GTCTCAAAAAAAAAAAAAAAAAAAATTAGCTCGGTGCATTAGTTCACACC TG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	316	0.0032	301	c.916 others(318): Show c.916+1168_916+1169insGGGAGGCCAAGGCAGGCGGATCACTTGA GGCCAGGAATTTGAGACCAGCCTGACCAACGTGGCGAAACCCCATCTCTA CCAAAAAATACAAATATTAGCTGGCCATGGTGGTGCACGCCTGTAGTCCC AGTTACTCAGGCGGAGGCGGGAGAATCGCTTAAACCTGGGAAGTGGAGGT TGCAGTGAGCCGAGATCGTGCCACTGCATTCCAGCCTTGCGACAGGATAA GACCCTGTCTCAAAAAAAAAAAAAAAAAAAATTAGCTCGGTGCATTAGTT CACACCTGTAATCCCAGCACTTT	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18L1_chr20_62138769_62187514	62166667	A A	ATAATCCC others(294): Show ATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGCCAG GAATTTGAGACCAGCCTGACCAACGTGGCGAAACCCCATCTCTACCAAAA AATACAAATATTAGCTGGCCATGGTGGTGCACGCCTGTAGTCCCAGTTAC TCAGGCGGAGGCGGGAGAATCGCTTAAACCTGGGAAGTGGAGGTTGCAGT GAGCCGAGATTGTGCCACTGCATTCCAGCCTTGCGACAGGATAAGACCCT GTCTCAAAAAAAAAAAAAAAAAAAATTAGCTCGGTGCATTAGTTCACACC TG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02257.hp1 HG02280.hp2 others(8): Show HG01167.hp1 HG02257.hp1 HG02280.hp2 HG02572.hp1 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG06807.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0002c0006 others(1): Show a0001c0001 a0001c0004 a0002c0006 a0005c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0004t0006 a0002c0006t0007 a0005c0014t0024	a0001c0001t0002g0290 a0001c0001t0003g0017 a0001c0001t0003g0018 others(8): Show a0001c0001t0002g0290 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0008g0032 a0001c0001t0015g0289 a0001c0004t0006g0294 a0001c0004t0006g0295 a0001c0004t0006g0296 a0001c0004t0006g0297 a0002c0006t0007g0220 a0005c0014t0024g0031	11	316	0.0348	301	c.916 others(318): Show c.916+1168_916+1169insGGGAGGCCAAGGCAGGCGGATCACTTGA GGCCAGGAATTTGAGACCAGCCTGACCAACGTGGCGAAACCCCATCTCTA CCAAAAAATACAAATATTAGCTGGCCATGGTGGTGCACGCCTGTAGTCCC AGTTACTCAGGCGGAGGCGGGAGAATCGCTTAAACCTGGGAAGTGGAGGT TGCAGTGAGCCGAGATTGTGCCACTGCATTCCAGCCTTGCGACAGGATAA GACCCTGTCTCAAAAAAAAAAAAAAAAAAAATTAGCTCGGTGCATTAGTT CACACCTGTAATCCCAGCACTTT	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76390943	T T	TGTATTTT others(294): Show TGTATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0035 a0002c0002t0008g0035	1	102	0.0098	301	c.214 others(320): Show c.214-21051_214-21050insTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCGTATTTTTTTTTTT	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STK32A_chr5_147230026_147392855	147258153	T T	TAACCTTT others(294): Show TAACCTTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02976.hp1 HG02896.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0070 a0001c0001t0002g0069 a0001c0001t0001g0070 a0001c0001t0002g0069	2	316	0.0063	301	c.52+ others(318): Show c.52+18484_52+18485insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCAACCTTTTATAATTTTT	STK32A	ENSG00000169302.16	transcript	ENST00000397936.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(294): Show GATTATAAAATATAATCATATATAATATATGATTATAAAATATAATCATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATTATATATGATTATAAAATATAATTATATATATTATAT ATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTA TATATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0059 a0001c0002t0002g0059	1	268	0.0037	301	c.75 others(312): Show c.7501_*7502insATTATAAAATATAATCATATATAATATATGATTA TAAAATATAATCATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAA TTATATATATTATATATGATTATAAAATATAATTATATATTATATATGAT TATAAAATATAATTATATATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SYK_chr9_90796819_90903549	90884880	T T	TGTGTGTA others(294): Show TGTGTGTATATACATATACACACATATGTGTGTATATACATATATACATA TATACATATATACATATATACACATATGTGTACATATGTGTATATATACA TATATACACATATATATGTATATATACACATATGTGAATATATATGTGTT ATATATACACATATGTGTATATGTATATATGTATATATACACATATGTGT ATATATACATATATACATATACACATATGTGTATATATAACACATATATA TACACATATGTGTATATATACATATATACATATACACATATGTGTATATA TA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03834.hp1 HG04115.hp2 HG02559.hp2 HG03834.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0273 a0001c0001t0003g0328 a0001c0001t0003g0043 a0001c0001t0003g0273 a0001c0001t0003g0328	3	376	0.0080	301	c.158 others(320): Show c.1582-2869_1582-2868insGTGTGTATATACATATACACACATAT GTGTGTATATACATATATACATATATACATATATACATATATACACATAT GTGTACATATGTGTATATATACATATATACACATATATATGTATATATAC ACATATGTGAATATATATGTGTTATATATACACATATGTGTATATGTATA TATGTATATATACACATATGTGTATATATACATATATACATATACACATA TGTGTATATATAACACATATATATACACATATGTGTATATATACATATAT ACATATACACATATGTGTATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13			chr9	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATATACA others(294): Show TATATACACATATGTGTACATATGTGTATATATACATATATATACACATA TATATGTATATATACACATATGTGAATATGTATATATGTGTTATATATAC ACATATGTGTATATGTATATATACATATATACACATATGTGTATATATAC ATATATACATATACACATATGTGTATATATAACACATATATACACATATG TGTATATATAACACATATATACACATATGTGTATATATAACACATATATA CACATATGTGTATATATACATATATACATATACACATATGTGTATATATA AC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03492.hp2 others(5): Show HG02896.hp2 HG02897.hp1 HG03492.hp2 NA18962.hp1 NA18975.hp2 NA18979.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0072 a0001c0001t0001 a0001c0001t0005 a0001c0001t0072	a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0105 others(5): Show a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0266 a0001c0001t0001g0295 a0001c0001t0001g0301 a0001c0001t0005g0116 a0001c0001t0072g0143	8	376	0.0213	301	c.158 others(320): Show c.1582-2860_1582-2859insCACATATGTGTACATATGTGTATATA TACATATATATACACATATATATGTATATATACACATATGTGAATATGTA TATATGTGTTATATATACACATATGTGTATATGTATATATACATATATAC ACATATGTGTATATATACATATATACATATACACATATGTGTATATATAA CACATATATACACATATGTGTATATATAACACATATATACACATATGTGT ATATATAACACATATATACACATATGTGTATATATACATATATACATATA CACATATGTGTATATATAACATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TAFA5_chr22_48484553_48756932	48620783	C C	CATCCTAT others(294): Show CATCCTATTCATCCATCCATCCACCCACCCAGTCTATCCACCCACCCACC TATCCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCACCCACA CACCCACACTATCCACCCACCCACACACCCTATCTACCCACCCAATATAT CCACCCACCCACCTACACCATCCACCCACCCACCCTATCTATCCACCCAC CCACACTATCCATCCACCCACCTATCCTATTCATCCATCCATCCACCTAC CCAGCCAATTTATCCACCCACCCACCTACCCTATCTATCCACCCATCCAC CT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00639.hp2 others(25): Show HG00140.hp2 HG00323.hp1 HG00639.hp2 HG01074.hp2 HG01106.hp1 HG01167.hp2 HG01175.hp1 HG01358.hp2 HG01952.hp2 HG01993.hp2 HG02132.hp2 HG02486.hp2 HG02647.hp2 HG02735.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp1 HG03540.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp2 NA19030.hp1 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0022 a0001c0001t0032 a0001c0004t0003	a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0134 others(25): Show a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0134 a0001c0001t0001g0256 a0001c0001t0002g0030 a0001c0001t0002g0074 a0001c0001t0002g0084 a0001c0001t0002g0098 a0001c0001t0002g0105 a0001c0001t0002g0117 a0001c0001t0002g0139 a0001c0001t0002g0159 a0001c0001t0002g0195 a0001c0001t0002g0253 a0001c0001t0003g0021 a0001c0001t0003g0062 a0001c0001t0003g0077 a0001c0001t0003g0088 a0001c0001t0003g0129 a0001c0001t0003g0168 a0001c0001t0003g0201 a0001c0001t0004g0042 a0001c0001t0005g0104 a0001c0001t0005g0246 a0001c0001t0010g0176 a0001c0001t0022g0179 a0001c0001t0032g0033 a0001c0004t0003g0226	28	258	0.1085	301	c.113 others(320): Show c.113-25796_113-25795insTCCACCCACCCAGTCTATCCACCCAC CCACCTATCCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCAC CCACACACCCACACTATCCACCCACCCACACACCCTATCTACCCACCCAA TATATCCACCCACCCACCTACACCATCCACCCACCCACCCTATCTATCCA CCCACCCACACTATCCATCCACCCACCTATCCTATTCATCCATCCATCCA CCTACCCAGCCAATTTATCCACCCACCCACCTACCCTATCTATCCACCCA TCCACCTATCCTATTCATCCATCCA	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(294): Show CCCTCCCCTCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCC CCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTC TCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTC CCCCCCTCTCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCC CT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	268	0.0037	301	c.186 others(318): Show c.186-2265_186-2264insTCCCCTCCCTCCCCATCCCCTCCCTTCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCC CTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCC CCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCC CTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCCCGTCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF3_chr19_1604292_1657615	1627913	G G	GGGGGTGA others(294): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAG GGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCA CAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGA AGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC AC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03041.hp1 HG02145.hp2 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0178 a0001c0002t0005g0330 a0001c0002t0001g0178 a0001c0002t0005g0330	2	352	0.0057	301	c.299 others(316): Show c.299-488_299-487insGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGT CCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGT CCCCTTCCCGCCTCATCCCCTGTGAGCTCTACTGTCCCCTTCCCGCCTCA CCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCT GTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1627946	C C	CGGGGGTG others(294): Show CGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGGGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCT CACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGG AAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCT CA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0015 a0002c0001t0015	a0002c0001t0015g0155 a0002c0001t0015g0155	1	352	0.0028	301	c.299 others(316): Show c.299-521_299-520insTGAGCTCTGCTGTCCCCTTCCCACCTCACC CCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTC CCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTG TCCCCTTCCCGCCTCACCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1627946	C C	CGGGGGTG others(294): Show CGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGGGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTC ACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCT CACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGG AAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCT CA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0019 a0002c0001t0019	a0002c0001t0019g0084 a0002c0001t0019g0084	1	352	0.0028	301	c.299 others(316): Show c.299-521_299-520insTGAGCTCTGCTGTCCCCTTCCCACCTCACC CCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTC CCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTG TCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTG TCCCCTTCCCGCCTCACCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628664	A A	ACGGGGAT others(294): Show ACGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGA AGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGG AAGGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAA CT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0016 a0016	a0016c0027 a0016c0027	a0016c0027t0004 a0016c0027t0004	a0016c0027t0004g0020 a0016c0027t0004g0020	1	352	0.0028	301	c.299 others(318): Show c.299-1239_299-1238insAGTTCTGCTGTCCCCTTCCCGCCTCACC CCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCA CCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTC ACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCT GTCCCCTTCCCGCCTCATCCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628712	C C	CGGGAAAG others(294): Show CGGGAAAGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACAGGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAG GCGGGAAGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAG AGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTG AGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGACAGC AGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAG GT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0106 a0001c0004t0003g0106	1	352	0.0028	301	c.299 others(318): Show c.299-1287_299-1286insACCTCACCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCTTCCCGCCTCACCCCGTG AGTTCTGCTGTCCCTTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCC GTGAGCTCTGCTGTCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCT TTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGTTCTGCTGTCCCTTTCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TEX29_chr13_111315642_111349248	111341164	A A	AATCATAA others(294): Show AATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	416	0.0024	301	c.239 others(318): Show c.239+1274_239+1275insAATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGT GTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGT GAGCACCTGTGCTTGTTGATGAA	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX29_chr13_111315642_111349248	111341207	C C	CATCATAA others(294): Show CATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	416	0.0024	301	c.240 others(318): Show c.240-1410_240-1409insGTGTTTAGTGAGCACCTGTGCTTGTTGA TGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAAT CATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACC CGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTT AGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGC ACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTG CTTGTTGATGAACATCATAACCC	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
THBS3_chr1_155190588_155212897	155191012	G G	GTCCGGGG others(294): Show GTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGG CCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGT GGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTG CGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACA CCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGC CGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGC TC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	298	0.0034	301	c.48 others(312): Show c.4828_*4829insGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCA GCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCAC CGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCC CGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGC AGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGG CCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGT GTCACCTCGGCCCCGGA	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4575		chr1	TogoVar
THBS3_chr1_155190588_155212897	155191039	T T	TGGGGGGG others(294): Show TGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGA CACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGG GCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCT GCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCG GGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCG GTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGC TG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	298	0.0034	301	c.48 others(312): Show c.4801_*4802insCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAG GCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCC CGGAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTC ACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAGC CCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCG CGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCG GGCTCCACCGCCCCCCC	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4548		chr1	TogoVar
THBS3_chr1_155190588_155212897	155191099	T T	TGGGGGGG others(294): Show TGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGA CACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGG GCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCT GCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCG GGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCG GTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGC TG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	298	0.0034	301	c.47 others(312): Show c.4741_*4742insCAGCCCACGGTGTCACCTCGGCCCCGGACACCAG GCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCC CGGAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTC ACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAGC CCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCG CGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCG GGCTCCACCGCCCCCCC	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4488		chr1	TogoVar
THBS3_chr1_155190588_155212897	155191105	C C	CGCGGTGG others(294): Show CGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGT GGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAG GTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTC CGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCC GGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGA GCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTTGGG GG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	298	0.0034	301	c.47 others(312): Show c.4735_*4736insCCCCCAAGCCCACGGTGTCACCTCGGCCCCGGAC ACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTC GGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCAC GGTGTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCC CCCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCT CCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCG GCCCCGGGCTCCACCGC	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4482		chr1	TogoVar
THBS3_chr1_155190588_155212897	155191159	T T	TGGGGGGG others(294): Show TGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGA CACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGG GCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCT GCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCG GGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCG GTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGC TG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	298	0.0034	301	c.46 others(312): Show c.4681_*4682insCAGCCCACGGTGTCACCTCGGCCCCGGACACCAG GCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCC CGGAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTC ACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAGC CCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCG CGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCG GGCTCCACCGCCCCCCC	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4428		chr1	TogoVar
TMEM132D_chr12_129066726_129909025	129089176	A A	ATGACCGG others(294): Show ATGACCGGGGCGTCCTCCCTGACCGGGATGTCCTCCATGACCGGGATGTC CTCCATGACCGGGTGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTG TCCTCCATGACCGGGGCGTCCTCCATGACCGGGGCGTCCTCCATGACCGG GATGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCATGAC CGGGTGTCCTCCCTGACCGGGGCGTCCTCCATGACCGGGGCGTCCTCCAT GACCGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGGTGTCCTC CC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG04204.hp1 NA20752.hp2 HG03834.hp2 HG04204.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0039 a0001c0001t0002g0078 a0001c0001t0002g0021 a0001c0001t0002g0039 a0001c0001t0002g0078	3	94	0.0319	301	c.144 others(320): Show c.1444-4475_1444-4474insGGGAGGACACCCCGGTCATGGAGGAC ACCCCGGTCATGGAGGACACCCGGTCATGGAGGACGCCCCGGTCATGGAG GACGCCCCGGTCAGGGAGGACACCCGGTCATGGAGGACACCCGGTCATGG AGGACATCCCGGTCATGGAGGACATCCCGGTCATGGAGGACGCCCCGGTC ATGGAGGACGCCCCGGTCATGGAGGACACCCGGTCATGGAGGACATCCCG GTCATGGAGGACACCCGGTCATGGAGGACATCCCGGTCATGGAGGACATC CCGGTCAGGGAGGACGCCCCGGTCA	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129089176	A A	ATGACCGG others(294): Show ATGACCGGGGCGTCCTCCCTGACCGGGATGTCCTCCATGACCGGGATGTC CTCCATGACCGGGTGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTG TCCTCCATGACCGGGGCGTCCTCCATGACCGGGGCGTCCTCCATGACCGG GATGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCATGAC CGGGTGTCCTCCCTGACCGGGGCGTCCTCCATGACCGGGGCGTCCTCCAT GACCGGGTGTCCTCCATGACCGGGGTGTCCTCCCTGACCGGGGTGTCCTC CC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	94	0.0106	301	c.144 others(320): Show c.1444-4475_1444-4474insGGGAGGACACCCCGGTCAGGGAGGAC ACCCCGGTCATGGAGGACACCCGGTCATGGAGGACGCCCCGGTCATGGAG GACGCCCCGGTCAGGGAGGACACCCGGTCATGGAGGACACCCGGTCATGG AGGACATCCCGGTCATGGAGGACATCCCGGTCATGGAGGACGCCCCGGTC ATGGAGGACGCCCCGGTCATGGAGGACACCCGGTCATGGAGGACATCCCG GTCATGGAGGACACCCGGTCATGGAGGACATCCCGGTCATGGAGGACATC CCGGTCAGGGAGGACGCCCCGGTCA	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMPRSS2_chr21_41459305_41513158	41474577	G G	GAGTGAGT others(294): Show GAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGA GGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGT GAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGA GGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGT GAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGA GGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAAG GC	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18994.hp2 NA19065.hp2 HG00621.hp1 NA18994.hp2 NA19065.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0104 a0002c0003t0004g0288 a0002c0003t0004g0308 a0002c0003t0004g0104 a0002c0003t0004g0288 a0002c0003t0004g0308	3	382	0.0079	301	c.728 others(318): Show c.728-1082_728-1081insGCCTTCACCCCCTCACCCCCTCACTCAC CCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTC ACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCAC CCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTC ACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTCACCCCCTCACTCAC CCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCT CCTCACCCACCCCCTCACTCACT	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS9_chr19_2355265_2431261	2418776	C C	CCTCCCTT others(294): Show CCTCCCTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTCTCCTCCCTCC CTTCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATT CCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCC CTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTT CCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTC CCTCCCTCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCCTCCCTCCCT TT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0005 a0005	a0005c0028 a0005c0028	a0005c0028t0002 a0005c0028t0002	a0005c0028t0002g0080 a0005c0028t0002g0080	1	114	0.0088	301	c.215 others(318): Show c.2154+639_2154+640insTCCCTTTCCTTCCCTCCCTCCCTCCCTT TCCTTCCCTCTCCTCCCTCCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCT CCCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCT CCGTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTT TCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCT TCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCCCATCC CTTTCCTTCCCTCCCTCCCTTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2419018	C C	CCCTCCCT others(294): Show CCCTCCCTCCCTTTCCTTTCCTCCCTCCCTCCCTTTCCTTCCCTCTCCTT CCCTCTCCTCCCTCTCCTTCCCTCTCCTCCCTCCCTTTCCTTCCCTTCCC TCCCTCCCTTTCCTTCCCTTCCCTCCCTCTGTTTCCTTTCCTCTCTCCCT TTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCC TTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCC CTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCACCGTCTCCTTCCCTCC CT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0015 a0007c0008t0003g0015	1	114	0.0088	301	c.215 others(318): Show c.2154+882_2154+883insTCCCTCCCTTTCCTTTCCTCCCTCCCTC CCTTTCCTTCCCTCTCCTTCCCTCTCCTCCCTCTCCTTCCCTCTCCTCCC TCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCTG TTTCCTTTCCTCTCTCCCTTTCCTTCCCTTCCCTCCCTCCCTCTCCTTCC CTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTC CCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTC CCACCGTCTCCTTCCCTCCCTCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNPO3_chr7_128949185_129060111	129059138	T T	TATTTTTA others(294): Show TATTTTTAAAAGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTTCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0181 a0001c0003t0002g0181	1	338	0.0030	301	c.-43 others(312): Show c.-4369_-4368insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGAACTCCAGCCT GGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA AAAGAACTTTTAAAAAT	TNPO3	ENSG00000064419.14	transcript	ENST00000265388.10	protein_coding		4028		chr7	TogoVar
TRIM46_chr1_155168849_155189970	155189932	T T	TGGGGGGG others(294): Show TGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGA CACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGG GCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCT GCTCTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCG GGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCG GTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGC TG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	348	0.0029	301	c.57 others(312): Show c.5742_*5743insGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCT CCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCC GGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGA GCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGGGG GGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCG TGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGA GGTGACACCGTGGGCTG	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4963		chr1	TogoVar
TUBGCP5_chr15_22994177_23044569	23042106	C C	CTGGGGGT others(294): Show CTGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCCGGGGGGGATT TCATAACCCCACCTGGCCAGGGGTGCTGGGGGGACATCATAACCTCACCT GGCCAGAGGTGCTGGGGGGTATCACAATCTGACCTGGCCAGAGATGCTGG GGGGGACATCATAACCCCACCTGGCCAGAGGTGCTGTGGGGCCATCATAA CCCCAGCTGGCCGGAGGTGCTGGGGGCTGGGGGAACTTCTTAACCCCACC TGGCCAGAGGTGCTGAGGGTGACTTCATAAATGTCACCTGGCCAGAGGTG CT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	351	0.0029	301	c.-25 others(312): Show c.-2564_-2563insAGCACCTCTGGCCAGGTGACATTTATGAAGTCAC CCTCAGCACCTCTGGCCAGGTGGGGTTAAGAAGTTCCCCCAGCCCCCAGC ACCTCCGGCCAGCTGGGGTTATGATGGCCCCACAGCACCTCTGGCCAGGT GGGGTTATGATGTCCCCCCCAGCATCTCTGGCCAGGTCAGATTGTGATAC CCCCCAGCACCTCTGGCCAGGTGAGGTTATGATGTCCCCCCAGCACCCCT GGCCAGGTGGGGTTATGAAATCCCCCCCGGCACCTCTGGCCAGGTGACAT TTATGAAGTCACCCCCA	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		2538		chr15	TogoVar

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Search Results (Total: 10000 hits)