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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Select column to sort.

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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
ATP10A_chr15_25673712_25868327	25758725	C C	CCTAACTC others(669): Show CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCCAT CACCTGCTCCACCCTAACTCATTCCCACCACCTGCTCCACCCTAACTCAT TCCTATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTA ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCCACCACCTGCT CCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTC CGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp2 HG01071.hp1 HG01106.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0148 a0003c0003t0001g0149	2	300	0.0067	676	c.654 others(695): Show c.654+22293_654+22294insTTAGGGTGGAGCAGGTGGTCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTG GAGCAGGTGGTGGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGA TCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGC AGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGG TGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATAGG AATGAGTTAGGGTGGAGCAGGTGGTGGGAATGAGTTAGGGTGGAGCAGGT GATGGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGA GCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(669): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAG GCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGG GGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	338	0.0030	676	c.300 others(693): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCC GGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGG GGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCG TAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTC GGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGAC GGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(669): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAG GCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGG GGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01168.hp1 HG01257.hp2 others(3): Show HG01106.hp2 HG01168.hp1 HG01257.hp2 HG02145.hp1 HG03704.hp2 NA20805.hp1	a0002 a0018 a0055 a0002 a0018 a0055	a0002c0002 a0018c0027 a0055c0110 a0002c0002 a0018c0027 a0055c0110	a0002c0002t0001 a0018c0027t0001 a0055c0110t0001 a0002c0002t0001 a0018c0027t0001 a0055c0110t0001	a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 others(3): Show a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0018c0027t0001g0145 a0018c0027t0001g0165 a0055c0110t0001g0006	6	338	0.0178	676	c.300 others(693): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGG TACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGC GGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGG AGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGG AGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGG AGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGG AGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTA GGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(669): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATATAATTATATATATATATATATATAAGTATATATATATAAAATT ATATATATAATTATATATATATTATATATAATTATATATAATTATATATA TAATTTTATATATATAATTATATATATTTATATATATATATAATTATATA TATTTATATATATATATAATTATATATATATATAAAATTATATATATAAT TATATATATATTATATATAATTATATATATTATATTATATATAATTTTAT ATATATAATTATATATATAATTTTATATATATAATTTTATATATATAATT TTATATATATAATTTTATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATATAATTATATATATATAATTTTATATATATATAATTATATATAT AATTTTATATATATATAATTATATATATAATTATATATATGATTTTATAT ATATAATTATATATATAATTTTATATATATATAATTATATATATAATTTT ATATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0027 a0002c0002t0003g0027	1	330	0.0030	676	c.907 others(691): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAA ATTATATATATAATTATATATATATAAAATTATATATATAATTATATATA TAAAATCATATATATAATTATATATATAATTATATATATATAAAATTATA TATATAATTATATATATATAAAATTATATATATATAATTATATATATATA AAATTATATATATAATTATATATATATAAAATTATATATATAATTATATA TATATAAAATTATATATATAATTATATATATAAAATTATATATATAAAAT TATATATATAAAATTATATATATAAAATTATATATATAATTATATATATA AAATTATATATAATATAATATATATAATTATATATAATATATATATAATT ATATATATAATTTTATATATATATATAATTATATATATATATAAATATAT ATAATTATATATATATATAAATATATATAATTATATATATAAAATTATAT ATATAATTATATATAATTATATATAATATATATATAATTATATATATAAT TTTATATATATATACTTATATATATATATATATATAATTATATATATATA AAATTATATATATAATTATATATATATAAAATTATATATATAATTATATA TATATAAAATTATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(669): Show AGGGGGTCCTCACAGGGAGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCG GGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCAGGGGGAAGGGGGATC CTCAGGGGGAGGGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAGG GGGGGATCCTCCTCACAGGGAGGTGGATCCTCACGGGGAAGGGATCCTCA GGGGGAGGGGGATCCTCACAGGGAGGGGATCCTCGGGAAGGTGGATCCTC ACGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGAGGAT CCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGG GATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGA GGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGG GGAGGTGGATCCTCACGGGGAGGGGATCCTCAGGCGGAGGGGGATCCTCC TCAGGGGGAGGGGGGATCCTCACGGGGAGTGGGGATCCTCCAAGGGGAGG GGGATCCTCACGGGGAGGGGGATCCTCATGGGGAGAGGGATCCTCACGGG GAGGGGGATCCTCAGAGGGAGGGGGGATCCTTGGGGGGAGGGGGATCCTC ACAGGGTGGGGGGATCCTCACAGGGAG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	58	0.0172	676	c.234 others(697): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGGGTCCTC AGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCA TCCTCAGGGGGAAGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAGGA GGGGGGATCCTCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGTGGATC CTCACGGGGAAGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGA TCCTCGGGAAGGTGGATCCTCACGGGGAGGAGGATCCTCACGGGGAGGGG GATCCTCAGGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGA GGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGGGGATCCTCAGGG GGAGGGGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTC ACGGGGAGGGGATCCTCAGGGGGAGGTGGATCCTCACGGGGAGGGGATCC TCAGGCGGAGGGGGATCCTCCTCAGGGGGAGGGGGGATCCTCACGGGGAG TGGGGATCCTCCAAGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCAT GGGGAGAGGGATCCTCACGGGGAGGGGGATCCTCAGAGGGAGGGGGGATC CTTGGGGGGAGGGGGATCCTCACAGGGTGGGGGGATCCTCACAGGGAGGG GG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC183_chr9_136791338_136812741	136802942	C C	CTGGGGGC others(669): Show CTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	398	0.0025	676	c.666 others(691): Show c.666+156_666+157insTGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13			chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803145	G G	GCCGGGGG others(669): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	398	0.0025	676	c.666 others(691): Show c.666+360_666+361insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803215	G G	GGGGGCCC others(669): Show GGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCAGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCAGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	398	0.0025	676	c.666 others(691): Show c.666+436_666+437insTCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCCCTCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCAGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(669): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0113 a0001c0001t0010g0113	1	334	0.0030	676	c.-25 others(687): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTAC CACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(669): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	334	0.0030	676	c.-25 others(687): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCAATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTAC CACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CELF4_chr18_37238040_37570798	37283949	T T	TATAGCCC others(669): Show TATAGCCCAACACACACATACGCATACACACACCAATACATGCACCATGC ATATACCCCAACATACACACACACACACACACACACACACTGCAATACAC ACACCACACATACACCCCAACACACACACACACACATACAGACACCAATA CATACACCATGCATATACCCCAACACACACACACCCCCAATACACTCACA ACACATACACCCCAACACACACACACCCCCAATACACACACCACACATAT ACCCCAACACACACACACACACACCCAATACACACACCACACATATACCC CAACACACACACACCAATACATGCACCAACACATATACCCCAACATACAC ACACACCCCCAACACACACCAAAGCATATACGCCAACACACACACACATA CACAGCAATGCATTACCCCAACATACACACACAGACACACACACAATACA CACACCAATACACACCAATGCATATACCCCAACATACACACATATAGCAA CATACACCCTAACACACATACATACACATACACACACCAAATAGACACAC ACCCCAACACACACAACCAACACCCCCACACACCCAACACACACACATAC ACGTACACACACATCAACACATAACTATGCACCCCAACACACACACACAC ACACAACATACACACATATACACATAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01070.hp2 HG01074.hp1 others(35): Show HG00597.hp2 HG01070.hp2 HG01074.hp1 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01433.hp2 HG01934.hp1 HG01978.hp1 HG02074.hp1 HG02129.hp1 HG02148.hp2 HG02155.hp1 HG02451.hp2 HG02523.hp1 HG02602.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03492.hp1 HG03516.hp2 NA18961.hp2 NA18982.hp1 NA18983.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp2 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0040 a0001c0001t0042 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0071 others(35): Show a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0179 a0001c0001t0002g0066 a0001c0001t0002g0074 a0001c0001t0002g0086 a0001c0001t0002g0095 a0001c0001t0002g0133 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0152 a0001c0001t0002g0165 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0003g0100 a0001c0001t0004g0008 a0001c0001t0004g0029 a0001c0001t0004g0042 a0001c0001t0005g0091 a0001c0001t0006g0017 a0001c0001t0006g0041 a0001c0001t0011g0178 a0001c0001t0012g0026 a0001c0001t0013g0003 a0001c0001t0017g0040 a0001c0001t0040g0097 a0001c0001t0042g0123 a0001c0002t0001g0090 a0001c0002t0005g0082 a0001c0002t0005g0174	38	184	0.2065	676	c.449 others(693): Show c.449-8707_449-8706insGTATGTGTATATGTGTGTATGTTGTGTG TGTGTGTGTGTGTTGGGGTGCATAGTTATGTGTTGATGTGTGTGTACGTG TATGTGTGTGTGTTGGGTGTGTGGGGGTGTTGGTTGTGTGTGTTGGGGTG TGTGTCTATTTGGTGTGTGTATGTGTATGTATGTGTGTTAGGGTGTATGT TGCTATATGTGTGTATGTTGGGGTATATGCATTGGTGTGTATTGGTGTGT GTATTGTGTGTGTGTCTGTGTGTGTATGTTGGGGTAATGCATTGCTGTGT ATGTGTGTGTGTGTTGGCGTATATGCTTTGGTGTGTGTTGGGGGTGTGTG TGTATGTTGGGGTATATGTGTTGGTGCATGTATTGGTGTGTGTGTGTTGG GGTATATGTGTGGTGTGTGTATTGGGTGTGTGTGTGTGTGTGTTGGGGTA TATGTGTGGTGTGTGTATTGGGGGTGTGTGTGTGTTGGGGTGTATGTGTT GTGAGTGTATTGGGGGTGTGTGTGTGTTGGGGTATATGCATGGTGTATGT ATTGGTGTCTGTATGTGTGTGTGTGTGTGTTGGGGTGTATGTGTGGTGTG TGTATTGCAGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTGGGGTATATG CATGGTGCATGTATTGGTGTGTGTATGCGTATGTGTGTGTTGGGCTAT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	3/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37283949	T T	TATAGCCC others(669): Show TATAGCCCAACACACACATACGCATACACACACCAATACATGCACCATGC ATATACCCCAACATACACACACACACACACACACACTGCAATACACACAC CACACATACACCCCAACACACACACACACACATACAGACACCAATACATA CACCATGCATATACCCCAACACACACACACCCCCAATACACTCACAACAC ATACACCCCAACACACACACACCCCCAATACACACACCACACATATACCC CAACACACACACACACACACACACCCAATACACACACCACACATATACCC CAACACACACACACCAATACATGCACCAACACATATACCCCAACATACAC ACACACCCCCAACACACACCAAAGCATATACGCCAACACACACACACATA CACAGCAATGCATTACCCCAACATACACACACAGACACACACACAATACA CACACCAATACACACCAATGCATATACCCCAACATACACACATATAGCAA CATACACCCTAACACACATACATACACATACACACACCAAATAGACACAC ACCCCAACACACACAACCAACACCCCCACACACCCAACACACACACATAC ACGTACACACACATCAACACATAACTATGCACCCCAACACACACACACAC ACACAACATACACACATATACACATAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp2 HG02258.hp1 others(10): Show HG01243.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02970.hp2 HG02976.hp2 HG03486.hp2 HG03579.hp1 NA18906.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 others(5): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0030 a0001c0001t0038	a0001c0001t0006g0004 a0001c0001t0006g0005 a0001c0001t0006g0016 others(10): Show a0001c0001t0006g0004 a0001c0001t0006g0005 a0001c0001t0006g0016 a0001c0001t0006g0044 a0001c0001t0006g0045 a0001c0001t0007g0059 a0001c0001t0011g0058 a0001c0001t0011g0176 a0001c0001t0019g0043 a0001c0001t0023g0121 a0001c0001t0024g0049 a0001c0001t0030g0011 a0001c0001t0038g0170	13	184	0.0707	676	c.449 others(693): Show c.449-8707_449-8706insGTATGTGTATATGTGTGTATGTTGTGTG TGTGTGTGTGTGTTGGGGTGCATAGTTATGTGTTGATGTGTGTGTACGTG TATGTGTGTGTGTTGGGTGTGTGGGGGTGTTGGTTGTGTGTGTTGGGGTG TGTGTCTATTTGGTGTGTGTATGTGTATGTATGTGTGTTAGGGTGTATGT TGCTATATGTGTGTATGTTGGGGTATATGCATTGGTGTGTATTGGTGTGT GTATTGTGTGTGTGTCTGTGTGTGTATGTTGGGGTAATGCATTGCTGTGT ATGTGTGTGTGTGTTGGCGTATATGCTTTGGTGTGTGTTGGGGGTGTGTG TGTATGTTGGGGTATATGTGTTGGTGCATGTATTGGTGTGTGTGTGTTGG GGTATATGTGTGGTGTGTGTATTGGGTGTGTGTGTGTGTGTGTGTGTTGG GGTATATGTGTGGTGTGTGTATTGGGGGTGTGTGTGTGTTGGGGTGTATG TGTTGTGAGTGTATTGGGGGTGTGTGTGTGTTGGGGTATATGCATGGTGT ATGTATTGGTGTCTGTATGTGTGTGTGTGTGTGTTGGGGTGTATGTGTGG TGTGTGTATTGCAGTGTGTGTGTGTGTGTGTGTGTATGTTGGGGTATATG CATGGTGCATGTATTGGTGTGTGTATGCGTATGTGTGTGTTGGGCTAT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	3/12			chr18	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(669): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGTCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0118 a0005c0004t0001g0118	1	428	0.0023	676	c.217 others(691): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGTCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(669): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0153 a0005c0004t0001g0153	1	428	0.0023	676	c.217 others(691): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(669): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTT CCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCC TCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCC CTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCT CCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCC TCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0144 a0001c0003t0016g0144	1	270	0.0037	676	c.162 others(697): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCT CCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCC TCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTC CCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCC CCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCC ACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTC TTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCC CT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(669): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTT CCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCC TCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCC CTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCT CCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCC TCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA19064.hp2 NA18612.hp2 NA19064.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0080 a0001c0003t0001 a0001c0003t0080	a0001c0003t0001g0167 a0001c0003t0080g0158 a0001c0003t0001g0167 a0001c0003t0080g0158	2	270	0.0074	676	c.162 others(697): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCT CCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCC TCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTC CCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCC CCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCC ACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTC TTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCC CT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(669): Show CCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTTCCTCCCTCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTTCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCT CCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTC CCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCT TCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTTCCTCCCTCTCCACCTCCCC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCT TCCCTGTCTCCACCTCCCCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	223	0.0045	676	c.-42 others(687): Show c.-4215_-4214insCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTTCCTC CCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTTCCCTCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCT CCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCT CTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTTCCTC CCTCTCCACCTCCCCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
COL4A1_chr13_110143963_110312157	110255884	A A	AAGGGGGA others(669): Show AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0097 a0002c0097	a0002c0097t0006 a0002c0097t0006	a0002c0097t0006g0294 a0002c0097t0006g0294	1	344	0.0029	676	c.85- others(693): Show c.85-13151_85-13150insCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTC CCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTC CCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL6A1_chr21_45976770_46010048	45987790	G G	GGGGTCCA others(669): Show GGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGA GTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCC AGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGAT GGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAG GGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGG ACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGG CGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGG GGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGG CTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTC CAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAG ATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATG GAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGG GGATGTCGGGGCTCCAGATGGAGGGGACGGCAGGGTCCAGATGGAGGGGA CGGCGGGGTCCAGATGGAGGGGACGGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0086 a0001c0009t0002g0086	1	128	0.0078	676	c.804 others(691): Show c.804+139_804+140insTCCAGATGGAGGGGACGGCGGGGTCCAGAT GGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGA GGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGG ATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG CGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGG GGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTC CAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAG ATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGAT GGAGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGG AGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGG GACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGA TGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC GGGGTCCAGATGGAGGGGATGTCGGGGCTCCAGATGGAGGGGACGGCAGG GTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(669): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAG GGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGA AGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAGGG GAAGGGGGAGACAGAGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0188 a0001c0001t0016g0188	1	216	0.0046	676	c.923 others(695): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCC TCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCC CTCCCTCCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTTCATTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
EFNA2_chr19_1280873_1306431	1282289	G G	GAGAGGGA others(669): Show GAGAGGGAGAGAGGAAGGAAGGGAGGGGGGTATTAAGGGGGAAGAGAGTG GGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGGGGGAAGGAAGGAG GGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAGGAAGGGAGGAGGG AGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGGGAGGGAAGTAGGG AGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAGGGGAGGTGGGAGG GGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGGGGAGGGTGT GAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAG GGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGG GTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGA GGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGA AGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAG GGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGT GTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAGGAGGGAGGGGA GGATTGGAAAGGGGAGGAAGGTGTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0108 a0001c0001t0005g0108	1	294	0.0034	676	c.-38 others(687): Show c.-3880_-3879insAGAGGGAGAGAGGAAGGAAGGGAGGGGGGTATTA AGGGGGAAGAGAGTGGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAA GGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAG AGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGAT GGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGG AGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAG GAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGG GTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGG AGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAG GAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAG GGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAG GAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGA GGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGG GAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAA	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3583		chr19	TogoVar
EFNA2_chr19_1280873_1306431	1282324	G G	GGGGGAAG others(669): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGAT GGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGG AGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAG GAGGGGGGAGGGTGTGAAGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGG TGTGAAGGGAGGAGGGAGGGGAGGAGGGGTGTGAAGGGAGGAAGGAGGGG AGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAG GAGGGTGGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGA GGGTGTGAAGGGAGGAAGGAGGGAGGAGAGGGAGGAGGGTGTGAAGGGAG GAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGA GGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGG GAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAG AGAGGAAGGAAGGGAGGGGGTATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	294	0.0034	676	c.-38 others(687): Show c.-3845_-3844insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGAGGGAGGGGAAGGTGTGAAGGGAA GGAGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGT GTGAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGG AGGGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGAAGAGGGAGGGGAGG AGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGGTGTGAA GGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGG GGAGGAGGGAGGGAGGAGGGTGGTGAAGGGAGGAGGGAGGGGAGGAGGGA GGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGAGGAGAGGGAGG AGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAG GGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGA GGAGGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAG GTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3548		chr19	TogoVar
EFNA2_chr19_1280873_1306431	1282324	G G	GGGGGAAG others(669): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGT GTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAG GAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGA GGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGG TGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGA GGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGGAG GAGGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGG GAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAG AGAGGAAGGAAGGGAGGGGGTATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	294	0.0034	676	c.-38 others(687): Show c.-3845_-3844insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGA GGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGG GAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGG AGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGA GGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAG GGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGG AGGAGGGAGGGGGAGGAGGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGA GGAGGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAG GTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3548		chr19	TogoVar
EFNA2_chr19_1280873_1306431	1282324	G G	GGGGGAAG others(669): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGG TGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGA GGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGG AGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGG GTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGG AGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAG GAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGG AAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGA GAGGAAGGAAGGGAGGGGGGTATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0002	1	294	0.0034	676	c.-38 others(687): Show c.-3845_-3844insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGG AGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAG GGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGG GAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGG AGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGA GGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGG GAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAG GAGGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGG TGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGGTATTAAT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3548		chr19	TogoVar
FAM174C_chr19_1270530_1284228	1282289	G G	GAGAGGGA others(669): Show GAGAGGGAGAGAGGAAGGAAGGGAGGGGGGTATTAAGGGGGAAGAGAGTG GGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGGGGGAAGGAAGGAG GGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAGGAAGGGAGGAGGG AGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGGGAGGGAAGTAGGG AGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAGGGGAGGTGGGAGG GGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGGGGAGGGTGT GAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAG GGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGG GTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGA GGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGA AGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAG GGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGT GTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAGGAGGGAGGGGA GGATTGGAAAGGGGAGGAAGGTGTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	254	0.0039	676	c.35 others(687): Show c.3512_*3513insAGAGGGAGAGAGGAAGGAAGGGAGGGGGGTATTA AGGGGGAAGAGAGTGGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAA GGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAG AGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGAT GGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGG AGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAG GAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGG GTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGG AGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAG GAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAG GGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAG GAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGA GGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGG GAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAA	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3062		chr19	TogoVar
FAM174C_chr19_1270530_1284228	1282324	G G	GGGGGAAG others(669): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGGGGAGGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGG TGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGA GGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGG AGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGG GTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGG AGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAG GAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGG AAAGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGA GAGGAAGGAAGGGAGGGGGGTATTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	254	0.0039	676	c.35 others(687): Show c.3547_*3548insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGGGGAGGGGTGTGAAGGGAAGAGGGAGGGGAGG AGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAG GGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGG GAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGG AGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGA GGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGG GAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAG GAGGGTGTGAAGGGGAAAGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGG TGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGGTATTAAT	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3097		chr19	TogoVar
FAM174C_chr19_1270530_1284228	1282324	G G	GGGGGAAG others(669): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGG TGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGA GGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGG AGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGG GTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGG AGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAG GAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGG AAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGA GAGGAAGGAAGGGAGGGGGGTATTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0021 a0001c0024t0001g0021	1	254	0.0039	676	c.35 others(687): Show c.3547_*3548insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGG AGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAG GGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGG GAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGG AGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGA GGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGG GAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAG GAGGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGG TGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGGTATTAAT	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3097		chr19	TogoVar
FOXJ3_chr1_42171548_42340235	42222040	G G	GGGGAGGG others(669): Show GGGGAGGGGGAGGGGGAGGGGGAGGGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGA GGAGGAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGA AGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAG GAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAA GGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGG AGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGAAGAAGAAA GAAGAAAGAAGAAGAAAGAAGAAAGAAGAAAGAAGAAAGAAGAAAGAAGA AAGAAGAAAGAAGAAAGAAGAAAGAAGAAAGAAGAAAGAAGAAAGAAGAA AGAAGAAAGAAGAAAGAAGAAAGAAGAAAGAAGAAAGAAGAAAGAAGAAA GAAGAAAGAAGAAAGAAGAAAGAAGAAAGAAGAAAGAAGAAAGAAGAAAG AAGAAAGAAGAAAGAAGAAAGAAGAAAGAAGAAAGAAGAAAGAAGAAAGA AGAAAGAAGAAAGAAGAAAGAAGAAAGAAGAAAGAAGAAGAAAGAAGAAA GAAGAAAGAAGAAAGAAGAAAGAAGAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0300 a0001c0001t0002g0300	1	332	0.0030	676	c.528 others(693): Show c.528+5842_528+5843insTTCTTCTTTCTTCTTTCTTCTTTCTTCT TTCTTCTTTCTTCTTCTTTCTTCTTTCTTCTTTCTTCTTTCTTCTTTCTT CTTTCTTCTTTCTTCTTTCTTCTTTCTTCTTTCTTCTTTCTTCTTTCTTC TTTCTTCTTTCTTCTTTCTTCTTTCTTCTTTCTTCTTTCTTCTTTCTTCT TTCTTCTTTCTTCTTTCTTCTTTCTTCTTTCTTCTTTCTTCTTTCTTCTT TCTTCTTTCTTCTTTCTTCTTTCTTCTTTCTTCTTTCTTCTTTCTTCTTT CTTCTTTCTTCTTTCTTCTTTCTTCTTTCTTCTTTCTTCTTCTTTCTTCT TTCTTCTTCTTCTCCTCCTTCTCCTCCTTCTCCTCCTTCTCCTCCTTCTC CTCCTTCTCCTCCTTCTCCTCCTTCTCCTCCTTCTCCTCCTTCTCCTCCT TCTCCTCCTTCTCCTCCTTCTCCTCCTTCTCCTCCTTCTCCTCCTTCTCC TCCTTCTCCTCCTTCTCCTCCTTCTCCTCCTTCTCCTCCTTCTCCTCCTT CTCCTCCTTCTCCTCCTTCTCCTCCTTCTCCTCCTTCTCCTCCTCCTCCT CCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCC	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12			chr1	TogoVar
GAS6_chr13_113815549_113869076	113817317	T T	TCCTCCCC others(669): Show TCCTCCCCCCACGGGACACATCCCCCCCTCCCCCCACGGGACACATACCC CCTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACCCCC TCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTC CCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCC TCCAGGGAACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCC CACGGGACACATCCCCCCCTCCCCCCCACGGGACACATCCCCCCTCCCTC CAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCA CGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGG GGACACATCCCCCCTCCCCCCCACGGGACACATCCCCCCTCCCCCCAGGG GACACATACCCCCTCCCTCCAGGGGACACATACCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACA CATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACA TACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATC CCCCCTCCCTCCAGGGGACACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	143	0.0070	676	c.35 others(687): Show c.3546_*3547insGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGC CCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCC CGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCC TGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTG GAGGGAGGGGGTATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCCTGGG GGGAGGGGGGATGTGTCCCGTGGGGGGGAGGGGGGATGTGTCCCCTGGAG GGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCGTGGGGGG AGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAG GGGGGATGTGTCCCGTGGGGGGGAGGGGGGGATGTGTCCCGTGGGGGGAG GGGGGATGTGTCCCGAGGAGGGAGGGGGGATGTGTTCCCTGGAGGGAGGG GGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGG GATGTGTCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTA TGTGTCCCGTGGGGGGAGGAGGGATGTGTCCCGTGGGGGGAGGGGGTATG TGTCCCGTGGGGGGAGGGGGGGATGTGTCCCGTGGGGGGAGG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		3231		chr13	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(669): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGTCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	422	0.0024	676	c.31 others(687): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGG CACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGG GCCGGGGGCAGCCACACGGACAGTGTGGTTGGGGGAGAAGGGCACGGGGC CGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCAC ACGGGCAGTGTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACAC GGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGT GTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGT GGTTGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTT GGGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(669): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	422	0.0024	676	c.31 others(687): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGG CACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGG GCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGC CGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCAC ACGGGCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACG GGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAG TGTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG GTTGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTT GGGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(669): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATATATA TATAAATATATATATTTATATTTATTTATATATATATAAATATATATATT TATATTTATATTTATATATTTATATTTATATATATAAATATATATATTTA TATTTATTTATATATATAAATATATATATTAATATATATTTATATATATA AATATATATATTTATATATAAATATATATTTATGTATATTTATATATAAA TATATATATTTATATATATAAATATATATATTTATATATAAATATATATA TTTATATATAAATATATATATAAATATATATATTTATATATAAATATATA TATTTATATATATATTTATATATAAATATATATATTTATATATAAATATA TATATTTATATATATAAATATATATATTTATATATATAAATATATATATA TTTATATTTACAAATATATATATTTATATATATATTTATATTTATATATA TTTATATTTATATATATATATATAAATATATATTTATGTATATTTATATA TAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0040 a0008c0017t0040	a0008c0017t0040g0077 a0008c0017t0040g0077	1	208	0.0048	676	c.-97 others(693): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATATATATATAAATATATATATTTATATTTATTTATATATATATAAATAT ATATATTTATATTTATATTTATATATTTATATTTATATATATAAATATAT ATATTTATATTTATTTATATATATAAATATATATATTAATATATATTTAT ATATATAAATATATATATTTATATATAAATATATATTTATGTATATTTAT ATATAAATATATATATTTATATATATAAATATATATATTTATATATAAAT ATATATATTTATATATAAATATATATATAAATATATATATTTATATATAA ATATATATATTTATATATATATTTATATATAAATATATATATTTATATAT AAATATATATATTTATATATATAAATATATATATTTATATATATAAATAT ATATATATTTATATTTACAAATATATATATTTATATATATATTTATATTT ATATATATTTATATTTATATATATATATATAAATATATATTTATGTATAT TTATATATAAATATAAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(669): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0002 a0012c0017t0002	a0012c0017t0002g0257 a0012c0017t0002g0257	1	268	0.0037	676	c.-28 others(687): Show c.-2852_-2851insAGTAACTATATTAATATAGTTAGTATATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
IFNAR1_chr21_33319970_33364864	33323136	T T	TATATATA others(669): Show TATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGT ATGGAATATATATATATGGAATATATACGTATGGAATATATATATATGGA ATATATACGTATGGAATATATATATATGGAATATATACGTATGGAATATA TATATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGG AATATATATATATGGAATATACGTATGGAATATATATATATGGAATATAC GTATGGAATATATATATATGGAATATACGTATGGAATATATATATATGGA ATATATATGTATGGAATATATATATGGAATATATATGTATGGAATATATA TATGGAATATATATGTATGGAATATATATGTATGGAATATATATGTATGG AATATATATATGGAATATATATGTATGGAATATACATATGGAATATATAT GTTTGGAATATATATATATGGAATATATATGTATGGAATATATATATATG GAATATATGTATGGAATATATATATATGGAATATATGTATGGAATATATA TATGGAATATATGTATGGAATATATATATGGAATATATGTATATGGAATA TATATATGGAATATATATATATGGAATATATATGGAATATATATATATGG AATATATATGGAATATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0031 a0002c0002t0002g0031	1	323	0.0031	676	c.-19 others(687): Show c.-1920_-1919insATATATATGGAATATATACGTATGGAATATATAT ATGGAATATATACGTATGGAATATATATATATGGAATATATACGTATGGA ATATATATATATGGAATATATACGTATGGAATATATATATATGGAATATA TACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGG AATATATACGTATGGAATATATATATATGGAATATACGTATGGAATATAT ATATATGGAATATACGTATGGAATATATATATATGGAATATACGTATGGA ATATATATATATGGAATATATATGTATGGAATATATATATGGAATATATA TGTATGGAATATATATATGGAATATATATGTATGGAATATATATGTATGG AATATATATGTATGGAATATATATATGGAATATATATGTATGGAATATAC ATATGGAATATATATGTTTGGAATATATATATATGGAATATATATGTATG GAATATATATATATGGAATATATGTATGGAATATATATATATGGAATATA TGTATGGAATATATATATGGAATATATGTATGGAATATATATATGGAATA TATGTATATGGAATATATATATGGAATATATATATATGGAATATATATGG AATATATATATATGGAATATATATGGAATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1833		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(669): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGC AGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGG AGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGG CAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAG GGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGA GAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGG AGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAAACGGGCAGGGAGG AGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0095 a0001c0003t0002g0095	1	204	0.0049	676	c.978 others(693): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCA GGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGA GAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACG GGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGG AGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAA ACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCA GGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGG GCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGA GGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAG GGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQSEC1_chr3_12892043_13078429	12896683	T T	TCTGCCAG others(669): Show TCTGCCAGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTAT TTATTTTTTTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATT TGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGT GAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGTCCTTGGCCT TCCGCAGTGTTTGTGTCCCTGGGTACTTAAGATTAGGGAGTGGTGATGAC TCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTG CACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGA GAGCACAGGGTTGGGGATAAGGTCACAGATCAACAGGATCCCAAGGCAGA AGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTC TATCCACAGAGACCCGGCAACCATCCGATTTCTCAATTTTTTCCCCACCC TTCCCGCCTTTCTATTCCACAAAACCACCATTGTCATCATGGCCCATCCC CAATGAGCCGCTGGGCACACCTCCCAGACGGGGTCGTGGCCGGGCAGAGG GGCCCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAAGCGCCCCTCACCTC CCGGATGGGGCGGCTGGCCGGGCCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0060 a0004c0005t0060	a0004c0005t0060g0199 a0004c0005t0060g0199	1	250	0.0040	676	c.42 others(687): Show c.4299_*4300insCCCGGCCCGGCCAGCCGCCCCATCCGGGAGGTGA GGGGCGCTTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGGGCCCCTCTGC CCGGCCACGACCCCGTCTGGGAGGTGTGCCCAGCGGCTCATTGGGGATGG GCCATGATGACAATGGTGGTTTTGTGGAATAGAAAGGCGGGAAGGGTGGG GAAAAAATTGAGAAATCGGATGGTTGCCGGGTCTCTGTGGATAGAAGTAG ACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCT TGGGATCCTGTTGATCTGTGACCTTATCCCCAACCCTGTGCTCTCTGAAA CATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATG TGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCA CCACTCCCTAATCTTAAGTACCCAGGGACACAAACACTGCGGAAGGCCAA GGACGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTT TATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCC CTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAAAAATAAATAAATT AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAACTGGCAG	IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding		359		chr3	TogoVar
ISOC2_chr19_55447985_55466642	55449121	G G	GACCACAC others(669): Show GACCACACACCACACACACCACACACATACACCACACATGCACCACACAC ACACCACACACACCACACACACACCACACATACACCACACACCTCACACA CATCACACAGCCCACACACCACACACTGCACACACCGCACACACACACCA ACATACCACACACCAGAGACACACACGACACACCACACACAGACCACACA CACCACACACACACCACACACACACCCCACACACCACAAACACCCCACAC ACTCCACACACTGCACACACCGCACACGCCGCACATGCCACACACACCAC ACACCACACACACACCACACTGCACACACTGCACACACCACACACCCCAC ATACCACATTCACACACCACACACCACACATACCACATTCACACACCACA CATACCACACACACCACACACACCCCAGACACTGCACACACTGTACACAC CACACACACCCCACACACCACACACAGTGCACAAACCACACACCACACAC ACACCACACCACACCCCCCACACATAACCATACACAGACCACACATACAC ACACCACACACCACACATACCACACACACCAGATACACACACACCACATA CCACACACACACAAACCACACAACACACACACACATACACACCACAAGCA CACCACACACACACAAACCACAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	380	0.0026	676	c.41 others(687): Show c.4186_*4187insGTGTTTGTGGTTTGTGTGTGTGTGGTGTGCTTGT GGTGTGTATGTGTGTGTGTGTTGTGTGGTTTGTGTGTGTGTGGTATGTGG TGTGTGTGTATCTGGTGTGTGTGGTATGTGTGGTGTGTGGTGTGTGTATG TGTGGTCTGTGTATGGTTATGTGTGGGGGGTGTGGTGTGGTGTGTGTGTG GTGTGTGGTTTGTGCACTGTGTGTGGTGTGTGGGGTGTGTGTGGTGTGTA CAGTGTGTGCAGTGTCTGGGGTGTGTGTGGTGTGTGTGGTATGTGTGGTG TGTGAATGTGGTATGTGTGGTGTGTGGTGTGTGAATGTGGTATGTGGGGT GTGTGGTGTGTGCAGTGTGTGCAGTGTGGTGTGTGTGTGGTGTGTGGTGT GTGTGGCATGTGCGGCGTGTGCGGTGTGTGCAGTGTGTGGAGTGTGTGGG GTGTTTGTGGTGTGTGGGGTGTGTGTGTGGTGTGTGTGTGGTGTGTGTGG TCTGTGTGTGGTGTGTCGTGTGTGTCTCTGGTGTGTGGTATGTTGGTGTG TGTGTGCGGTGTGTGCAGTGTGTGGTGTGTGGGCTGTGTGATGTGTGTGA GGTGTGTGGTGTATGTGTGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGTG GTGCATGTGTGGTGTATGTGTGTGGTGTGTGTGGTGTGTGGT	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		3863		chr19	TogoVar
ISOC2_chr19_55447985_55466642	55449121	G G	GACCACAC others(669): Show GACCACACACCACACACACCACACACATACACCACACATGCACCACACAC ACACCACACACACCACACACACACCACACATACACCACACACCTCACACA CATCACACAGCCCACACACCACACACTGCACACACCGCACACACACACCA ACATACCACACACCAGAGACACACACGACACACCACACACAGACCACACA CACCACACACACCACACACACACCCCACACACCACAAACACCCCACACAC TCCACACACTGCACACACCGCACACGCCGCACATGCCACACACACCACAC ACCACACACACACCACACTGCACACACTGCACACACCACACACCCCACAT ACCACATTCACACACCACACACCACACATACCACATTCACACACCACACA TACCACACACACCACACACACCCCAGACACTGCACACACTGTACACACCA CACACACCCCACACACCACACACAGTGCACAAACCACACACCACACACAC ACCACACCACACCCCCCACACATAACCATACACAGACCACACATACACAC ACCACACACCACACATACCACACACACCAGATACACACACACCACATACC ACACACACACAAACCACACAACACACACACACACATACACACCACAAGCA CACCACACACACACAAACCACAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01258.hp2 HG01361.hp1 others(1): Show HG00140.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	4	380	0.0105	676	c.41 others(687): Show c.4186_*4187insGTGTTTGTGGTTTGTGTGTGTGTGGTGTGCTTGT GGTGTGTATGTGTGTGTGTGTGTTGTGTGGTTTGTGTGTGTGTGGTATGT GGTGTGTGTGTATCTGGTGTGTGTGGTATGTGTGGTGTGTGGTGTGTGTA TGTGTGGTCTGTGTATGGTTATGTGTGGGGGGTGTGGTGTGGTGTGTGTG TGGTGTGTGGTTTGTGCACTGTGTGTGGTGTGTGGGGTGTGTGTGGTGTG TACAGTGTGTGCAGTGTCTGGGGTGTGTGTGGTGTGTGTGGTATGTGTGG TGTGTGAATGTGGTATGTGTGGTGTGTGGTGTGTGAATGTGGTATGTGGG GTGTGTGGTGTGTGCAGTGTGTGCAGTGTGGTGTGTGTGTGGTGTGTGGT GTGTGTGGCATGTGCGGCGTGTGCGGTGTGTGCAGTGTGTGGAGTGTGTG GGGTGTTTGTGGTGTGTGGGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGG TCTGTGTGTGGTGTGTCGTGTGTGTCTCTGGTGTGTGGTATGTTGGTGTG TGTGTGCGGTGTGTGCAGTGTGTGGTGTGTGGGCTGTGTGATGTGTGTGA GGTGTGTGGTGTATGTGTGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGTG GTGCATGTGTGGTGTATGTGTGTGGTGTGTGTGGTGTGTGGT	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		3863		chr19	TogoVar
ISOC2_chr19_55447985_55466642	55449123	C C	CCACACAC others(669): Show CCACACACCACACACACCACACACATACACCACACATGCACCACACACAC ACCACACACACCACACACACACCACACATACACCACACACCTCACACACA TCACACAGCCCACACACCACACACTGCACACACCGCACACACACACCAAC ATACCACACACCAGAGACACACACGACACACCACACACAGACCACACACA CCACACACACCACACACACACCCCACACACCACAAACACCCCACACACTC CACACACTGCACACACCGCACACGCCGCACATGCCACACACACCACACAC CACACACACACCACACTGCACACACTGCACACACCACACACCCCACATAC CACATTCACACACCACACACCACACATACCACATTCACACACCACACATA CCACACACACCACACACACCCCAGACACTGCACACACTGTACACACCACA CACACCCCACACACCACACACAGTGCACAAACCACACACCACACACACAC CACACCACACCCCCCACACATAACCATACACAGACCACACATACACACAC CACACACCACACATACCACACACACCAGATACACACACACCACATACCAC ACACACACAAACCACACAACACACACACACATACACACCACAAGCACACC ACACACACACAAACCACAAACACACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	2	380	0.0053	676	c.41 others(687): Show c.4184_*4185insTGGTGTGTTTGTGGTTTGTGTGTGTGTGGTGTGC TTGTGGTGTGTATGTGTGTGTGTGTTGTGTGGTTTGTGTGTGTGTGGTAT GTGGTGTGTGTGTATCTGGTGTGTGTGGTATGTGTGGTGTGTGGTGTGTG TATGTGTGGTCTGTGTATGGTTATGTGTGGGGGGTGTGGTGTGGTGTGTG TGTGGTGTGTGGTTTGTGCACTGTGTGTGGTGTGTGGGGTGTGTGTGGTG TGTACAGTGTGTGCAGTGTCTGGGGTGTGTGTGGTGTGTGTGGTATGTGT GGTGTGTGAATGTGGTATGTGTGGTGTGTGGTGTGTGAATGTGGTATGTG GGGTGTGTGGTGTGTGCAGTGTGTGCAGTGTGGTGTGTGTGTGGTGTGTG GTGTGTGTGGCATGTGCGGCGTGTGCGGTGTGTGCAGTGTGTGGAGTGTG TGGGGTGTTTGTGGTGTGTGGGGTGTGTGTGTGGTGTGTGTGGTGTGTGT GGTCTGTGTGTGGTGTGTCGTGTGTGTCTCTGGTGTGTGGTATGTTGGTG TGTGTGTGCGGTGTGTGCAGTGTGTGGTGTGTGGGCTGTGTGATGTGTGT GAGGTGTGTGGTGTATGTGTGGTGTGTGTGTGGTGTGTGTGGTGTGTGTG TGGTGCATGTGTGGTGTATGTGTGTGGTGTGTGTGGTGTGTG	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		3861		chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45228891	A A	ACCCCCGC others(669): Show ACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCA CCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAA AGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCA CCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCCAAC CACCACTCACCCGAAAGATCCCTCTCCACCCCCGCCATCACCACTCACCC GAAAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTC TCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAAC CACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCG AAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTC CACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCA CCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACC TGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCT CTTCACCCCCCAACCACCACTCACCCGAAAGATCCCTCCCCATCCCCCCC CACCACTCACCCGAAAGATCCCTCTCC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	398	0.0025	676	c.64+ others(693): Show c.64+11748_64+11749insGGAGAGGGATCTTTCGGGTGAGTGGTGG GGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGA GGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAG GTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGT GGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGG AGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTC GGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGG TTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAG AGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTTTCG GGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGG TTGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGT GGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTT TCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGT GGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45228913	A A	AAGATCCC others(669): Show AAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCC ACCCCCCAACCACCACTCACCCGAAAGATCCCTCCCCATCCCCCCCACCA CTCACCCGAAAGATCCCTCTCCACCCCCCTACCACCACTCACCCGAAAGA TCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCC ACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTCCACCCTCCAACCA CCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAA AGATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTC TCCACCCCCGCCACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAA CCACCACTCACCCGAAAGATCCCTCTCCACCCCCGCCATCACCACTCACC CGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTC TCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCC GCCATCACCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTC ACCCGAAAGATCCCTCCCCATCCCCCCCCACCACTCACCCGAAAGATCCC TCTCCACCCCCCAACCACTCACCTGAG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0072 a0001c0001t0025g0072	1	398	0.0025	676	c.64+ others(693): Show c.64+11726_64+11727insCTCAGGTGAGTGGTTGGGGGGTGGAGAG GGATCTTTCGGGTGAGTGGTGGGGGGGGATGGGGAGGGATCTTTCGGGTG AGTGGTGGTTGGGGGGTGAAGAGGGATCTTTCGGGTGAGTGGTGATGGCG GGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAG AGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGG GTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGT TGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAG AGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTT TCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGT GGTTGGAGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTG GAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGAT CTTTCGGGTGAGTGGTGGTAGGGGGGTGGAGAGGGATCTTTCGGGTGAGT GGTGGGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTG GAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCT	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(669): Show CAAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAG CTCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGA TGGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACT AAAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAAC AATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATG TTTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAA TTCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTT GAGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGC AGTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGAT CATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCC GTCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTG TAATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGA AGGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAG CAAGGCTCTGTCTAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0118 a0001c0001t0025g0118	1	286	0.0035	676	c.52 others(687): Show c.5260_*5261insTTTTTTTTTTTTTTAGACAGAGCCTTGCTCTGGC TGGAATGCAGTGGTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGT TCAAGTGATTCTCCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGC ATGTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTT CACCATGTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACC CGTTCGGCCTCCCAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCA GCCTACAACTTTTATTCTGATACCCATCATATCTGTATTTCTCAACGCAG AGTTCCAACCATCTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAA CTGAACAAGTGCAAATCTGAATACATTGTCTACTCCCCCAAAACATGCCA CTTATCTTCTCTGTATTATCTGGCTTTACCATTGCCTACAATTGTTCATG TATAACCTCGGCATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCAT CCAGTTCTAGCACTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATAC TGTCCTAGTTCAGACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTG ATCATCTACCTCCATCATCCACTTTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
LGR6_chr1_202188799_202324761	202204775	C C	CACACACA others(669): Show CACACACACACCTCCAAACACACACACACCCCTAACACACACCTCCTCCA AACACAAACCTCCAAACACACACACACCTCCAAACACACACACACCTAAC ACACACCTCCTCCAAACACACACACACTTCCAAACACACACACACCTCCA AACACACATACATCTCCAAACACACACACACCTAACACACGCACCTAACA CACACTTCCTTCAAACACACACACCTCCAAAGACACACACACACCTAACA CACACCTCCTTCAAACACACACACCTAACACACACCTCCTTCAAACACAC ACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACAC ACACACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACAC ACACACCTCTCCAAACACACACACACCTAACACACCCCCCTTCAAACACA CACACCTCTCCAAAAACACACACACACCTAACACACACCTCCTTCAAACA CACACACACCTCCAAACACAAACACACCTAACACACCCCTCCTTCAAACA CACACACCTCAAAACACACACACCTCAAAACACACACACCTCCAAAAACA CACACATACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACA CACACACCTAACACACACCTCTTTCAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00741.hp2 HG01256.hp1 others(14): Show HG00408.hp1 HG00741.hp2 HG01256.hp1 HG01891.hp1 HG02145.hp2 HG02155.hp1 HG02486.hp2 HG02559.hp1 HG02896.hp1 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp2 NA19068.hp2 NA20129.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0010	a0001c0001 a0002c0002 a0002c0032 others(7): Show a0001c0001 a0002c0002 a0002c0032 a0003c0004 a0003c0031 a0004c0003 a0007c0009 a0008c0010 a0009c0016 a0010c0017	a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 others(8): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0002c0032t0002 a0003c0004t0001 a0003c0031t0001 a0004c0003t0003 a0007c0009t0004 a0008c0010t0001 a0009c0016t0004 a0010c0017t0002	a0001c0001t0001g0103 a0001c0001t0001g0138 a0001c0001t0001g0164 others(14): Show a0001c0001t0001g0103 a0001c0001t0001g0138 a0001c0001t0001g0164 a0001c0001t0001g0253 a0002c0002t0002g0139 a0002c0002t0002g0163 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0032t0002g0261 a0003c0004t0001g0165 a0003c0031t0001g0137 a0004c0003t0003g0053 a0007c0009t0004g0018 a0007c0009t0004g0019 a0008c0010t0001g0104 a0009c0016t0004g0046 a0010c0017t0002g0166	17	262	0.0649	676	c.212 others(695): Show c.212+10584_212+10585insCTCCAAACACACACACACCCCTAACA CACACCTCCTCCAAACACAAACCTCCAAACACACACACACCTCCAAACAC ACACACACCTAACACACACCTCCTCCAAACACACACACACTTCCAAACAC ACACACACCTCCAAACACACATACATCTCCAAACACACACACACCTAACA CACGCACCTAACACACACTTCCTTCAAACACACACACCTCCAAAGACACA CACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACACCTCCAAACACACACACACCTAACACACAC CTCCTTCAAACACACACACACCTCCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACCTCTCCAAACACACACACACCTAACACACCC CCCTTCAAACACACACACCTCTCCAAAAACACACACACACCTAACACACA CCTCCTTCAAACACACACACACCTCCAAACACAAACACACCTAACACACC CCTCCTTCAAACACACACACCTCAAAACACACACACCTCAAAACACACAC ACCTCCAAAAACACACACATACCTAACACACACCTCCTTCAAACACACAC ACCTCCAAACACACACACACCTAACACACACCTCTTTCAAACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202205150	C C	CCACACAC others(669): Show CCACACACACACACCTAACACGCACCTCGTTCAAACGCACACACCCCCTT CAAACACACACACCTCCAAACACACACACACCTAACACACACCTTCAAGC ACACACTCCTCCAAACACACACACACCTAACACACACCTCCTCCAAACAC ACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACAC ACACACCTAACACACCCGTCCTTCAAACACACACACACCACACACACATC TAACACACACCTCCTTCAGACACACACCTCCAAACACACACACACCTTAC ACACACCTTCAAACACACACACACACCTAACACACACCTCCTTCAAACAC ACACACCTCCAAACACACACATCTAACACACACCTCCTTCAAACACACAC ACACACCTCCACACACACACACCTAACACACACCTCCTTCAAACACACAC ACCTCCAAACACACACACACCTAACACAGCTTCTTCAAACACACACACAC CTCCAAACACACACACACCTAACACACACCTCCTTCAAACACACAAACCT CCAGCACACACACCTAACACACACCTCCTTCAAACACACACCTCCACACA CACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACA CACACCTAACACACACACCTTCAAACA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	262	0.0038	676	c.212 others(695): Show c.212+10958_212+10959insACACCTAACACGCACCTCGTTCAAAC GCACACACCCCCTTCAAACACACACACCTCCAAACACACACACACCTAAC ACACACCTTCAAGCACACACTCCTCCAAACACACACACACCTAACACACA CCTCCTCCAAACACACACACACCTCCAAACACACACACACCTAACACACA CCTCCTTCAAACACACACACCTAACACACCCGTCCTTCAAACACACACAC ACCACACACACATCTAACACACACCTCCTTCAGACACACACCTCCAAACA CACACACACCTTACACACACCTTCAAACACACACACACACCTAACACACA CCTCCTTCAAACACACACACCTCCAAACACACACATCTAACACACACCTC CTTCAAACACACACACACACCTCCACACACACACACCTAACACACACCTC CTTCAAACACACACACCTCCAAACACACACACACCTAACACAGCTTCTTC AAACACACACACACCTCCAAACACACACACACCTAACACACACCTCCTTC AAACACACAAACCTCCAGCACACACACCTAACACACACCTCCTTCAAACA CACACCTCCACACACACACACCTAACACACACCTCCTTCAAACACACACA CCTCCAAACACACACACACCTAACACACACACCTTCAAACACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHFPL3_chr7_104323603_104913561	104824168	T T	TATATATT others(669): Show TATATATTATATATATAATATATATATTATATATTATATATTATATATAT AATATATATATTATATATTATATATAATATATTATATATTATATATATTA TATATTATATATTATATATATAATATATAATATATTATATATATATTATA TAATATATTATATATTATATATATATTATATTATATATTATATATAATTA TATATATTTTATATATTATATTATATATTATATATTATATATTATATATA TTATATATTATATATTATATATTATATATTATATGTATTATATATTATAT ATACAATTATATATATTATATATATTATATATTATATAATATATTATATA TATAATATATATTATATATTATATATTATATAATATATTATATATATAAT ATATTATATATTATATATTATATATTATATATAATATATATTATATATTA TATTATATAATATATTATATATATAATATATATTATATATTATATATTAT ATATATATTATATATATAATATATATTATATATAATATATATAATTGTAT ATATAATATATAATATATAATATATATAATATATAATATATAATATATAA TATATATAATATATAATATATAATATATAATATATAAAATATATATATAA AATATATTATATATTATATATTATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	86	0.0116	676	c.683 others(695): Show c.683-81995_683-81994insATTATATATTATATATTATATATATA ATATATATATTATATATTATATATAATATATTATATATTATATATATTAT ATATTATATATTATATATATAATATATAATATATTATATATATATTATAT AATATATTATATATTATATATATATTATATTATATATTATATATAATTAT ATATATTTTATATATTATATTATATATTATATATTATATATTATATATAT TATATATTATATATTATATATTATATATTATATGTATTATATATTATATA TACAATTATATATATTATATATATTATATATTATATAATATATTATATAT ATAATATATATTATATATTATATATTATATAATATATTATATATATAATA TATTATATATTATATATTATATATTATATATAATATATATTATATATTAT ATTATATAATATATTATATATATAATATATATTATATATTATATATTATA TATATATTATATATATAATATATATTATATATAATATATATAATTGTATA TATAATATATAATATATAATATATATAATATATAATATATAATATATAAT ATATATAATATATAATATATAATATATAATATATAAAATATATATATAAA ATATATTATATATTATATATTATATAATATATTATATATATAATATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(669): Show ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATATTTTTATATATATTTATATATATTTTTATATATAGTTATATATATTT ATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTATAGTT ATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTATATATAT AGTTATATATATATTTTTATATATATAGTTATATATATATATTTTTATAT ATATAGTTATATATATATATTTTTATATATATAGTTATATATATATATTT TTATATATATAGTTATATATATATATTTTTATATATATAGTTATATATAT ATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTAT ATATATATTTATATATATAGTTATATATTTATATATATTTATATATATTT ATATATATATTTATATATTTATTTATATATATTTATATATGTATTTATAT ATATTTATATATATTTATATGTATTTATATATATTTATATATATTTATAT ATATATATATAAATATATTTATATATATAAATATAAATATTTATATATAT TTATATATATTTATATATATATTTATGTATATTTATATATATTTATATAT ATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	260	0.0039	676	c.125 others(693): Show c.125+9673_125+9674insATTTATATATATATTTATATATATTTAT ATATATATTTATATATATATATTTTTATATATATTTATATATATTTTTAT ATATAGTTATATATATTTATATATAGTTATATATATTTATGTATAGTTAT ATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATATAGTT ATGTATAGTTATATATATAGTTATATATATATTTTTATATATATAGTTAT ATATATATATTTTTATATATATAGTTATATATATATATTTTTATATATAT AGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTAT ATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATAT TTTTATATATATAGTTATATATATATTTATATATATAGTTATATATTTAT ATATATTTATATATATTTATATATATATTTATATATTTATTTATATATAT TTATATATGTATTTATATATATTTATATATATTTATATGTATTTATATAT ATTTATATATATTTATATATATATATATAAATATATTTATATATATAAAT ATAAATATTTATATATATTTATATATATTTATATATATATTTATGTATAT TTATATATATTTATATATATATTTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	859824	T T	TCGGGACG others(669): Show TCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGATGTCTCG GGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGG TGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCG AGTGGTGTCACGGGACGGGTGCGAGTGGTGTCACGGGAGGGGTGCGAGTG GTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGT CTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGA CGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGG TGTGAGTGGTGTCACGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTG AGTGGTGTCTCGGGGTGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAG TGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGGTGGGTGTGCAGTG GTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTG TCTCGGGATGGGTGTGCAGTGATGTCA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0111 a0001c0005t0001g0111	1	294	0.0034	676	c.153 others(695): Show c.1530-5119_1530-5118insTGACATCACTGCACACCCATCCCGAG ACACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACA CCACTGCACACCCACCCCGAGACACCACTGCACACCCATCCCGAGACACC ACTGCACACCCATCCCGAGACACCACTGCACACCCACCCCGAGACACCAC TCACACCCACCCCGAGACACCACTCACACCCACCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCC GTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTC CCGAGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCGA GACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACA CCACTCGCACCCCTCCCGTGACACCACTCGCACCCGTCCCGTGACACCAC TCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGC ACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTCACACC CGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTC CCGAGACATCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(669): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGG GAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGG GTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGG GAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGGGAGGGTAGGGGGGAGGGGGAGGGTAGGGGGGAGGGGGAGGGGAGG GGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGG GGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGA GGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGG AGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGG AGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGG GAGGGAGGGGAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0183 a0002c0002t0002g0183	1	272	0.0037	676	c.250 others(691): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCC CTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCT CCCCTCCCCCTCCCCCCTACCCTCCCCCTCCCCCCTACCCTCCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCC CTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCC TTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCC CTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTC CCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NCAPG2_chr7_158626169_158709804	158667608	T T	TCCCTTAC others(669): Show TCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTC CCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCA CTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTC CTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCT CCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTAC TGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCT TACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCC GCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGG GTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCC ACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCC TCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCC CTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACT ACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	378	0.0027	676	c.148 others(695): Show c.1480-2859_1480-2858insCGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGA GGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGG AGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAG TGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGG CGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGT AAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCG GAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTA GTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(669): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0276 a0002c0002t0001g0276	1	422	0.0024	676	c.195 others(693): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGT TACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATATACTAACTATATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar

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Search Results (Total: 10000 hits)