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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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
TAFA5_chr22_48484553_48756932	48698689	G G	GGCCTGGG others(871): Show GGCCTGGGAGGGTTGTATGTGACCGGAAGCTTGAGTGAGTCTCCAGATGA TGCTGGGGTTTATAATGAGCACGGGACACCTGGGAACAAGGCAGGTCTCC CAGGCAATCATCAGGAACCACCTGGGCAGCGCTGGACCCCTGGTTCTACC TCAGGAATGAGAAGGGTGGAGGCGAGGAGGTCTCTTGGGAGGAAGATGTG CCAGGAGTGCCAGTAGGTCGGGCCTGGGAACTCGTGGAGGCTTCTCACAC CGGAGGATGCTGGATCTGCGCTGAGCACAGCAGGGTGGCTGTGGGGCCTG GCGGCTCCTGTGGAGGGAGCGACTCTGGACCTGGAGACAGGAGTGCCAGG CAGGTGGGCAGCAGGGAGACTTTGCATCCCAGGCTCCTGGGGCCCTGGGG GCCTTAGGAACGCTCTCCCAGGAGGGAGCATCAGGGCTGAGCAGCCTCCA GGCTTAGCGCAGTGCCCTATGAGACCTTCTCTCCTGCTCCACCCTGGCCC TGCCTGGGGTGAAGGAGACAGAGGCAGGGGACCAGGCCCTGCCCGGATGC CCAGCTACAGGCCAGAAGACAATGGCGCTCAGTCAGGTGCTACGTTTTCA TTACTGGGACCAGCATGTAATTACTGCATGAGGCTGCAGTGACCCAGGAG GTTCCCTTACCTCCGAGGGACTAAGATAGCTGGAGTTTGCTAGAATCCCC CAAGCCCAGCAGGGAGCTGCTTTTACCACTGAACAGGATCAAGGGACAGA GGGAGACTAAGTTACATCTTTAAGAAACCCCACACCGTGTGCTTCTCCAG ACACCTGCATCCAGACTCCTGTGTCTTAGGGCTGGGACCCAGCAGTGGGA CCCCAGAGGAGCTGATGCCCGCCTTGGCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00544.hp1 others(46): Show HG00140.hp1 HG00280.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01261.hp1 HG01943.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02735.hp2 HG02886.hp1 HG03098.hp1 HG03130.hp1 HG03453.hp1 HG03471.hp2 HG04228.hp1 NA18612.hp2 NA18906.hp2 NA18944.hp2 NA18945.hp1 NA18952.hp1 NA18979.hp2 NA18980.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0024 a0001c0001t0038	a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0001g0061 others(46): Show a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0233 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0030 a0001c0001t0002g0048 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0200 a0001c0001t0003g0073 a0001c0001t0003g0121 a0001c0001t0003g0198 a0001c0001t0003g0234 a0001c0001t0004g0189 a0001c0001t0009g0045 a0001c0001t0011g0055 a0001c0001t0011g0070 a0001c0001t0014g0052 a0001c0001t0024g0202 a0001c0001t0038g0196	49	258	0.1899	878	c.263 others(895): Show c.263-9027_263-9026insCCTGGGAGGGTTGTATGTGACCGGAAGC TTGAGTGAGTCTCCAGATGATGCTGGGGTTTATAATGAGCACGGGACACC TGGGAACAAGGCAGGTCTCCCAGGCAATCATCAGGAACCACCTGGGCAGC GCTGGACCCCTGGTTCTACCTCAGGAATGAGAAGGGTGGAGGCGAGGAGG TCTCTTGGGAGGAAGATGTGCCAGGAGTGCCAGTAGGTCGGGCCTGGGAA CTCGTGGAGGCTTCTCACACCGGAGGATGCTGGATCTGCGCTGAGCACAG CAGGGTGGCTGTGGGGCCTGGCGGCTCCTGTGGAGGGAGCGACTCTGGAC CTGGAGACAGGAGTGCCAGGCAGGTGGGCAGCAGGGAGACTTTGCATCCC AGGCTCCTGGGGCCCTGGGGGCCTTAGGAACGCTCTCCCAGGAGGGAGCA TCAGGGCTGAGCAGCCTCCAGGCTTAGCGCAGTGCCCTATGAGACCTTCT CTCCTGCTCCACCCTGGCCCTGCCTGGGGTGAAGGAGACAGAGGCAGGGG ACCAGGCCCTGCCCGGATGCCCAGCTACAGGCCAGAAGACAATGGCGCTC AGTCAGGTGCTACGTTTTCATTACTGGGACCAGCATGTAATTACTGCATG AGGCTGCAGTGACCCAGGAGGTTCCCTTACCTCCGAGGGACTAAGATAGC TGGAGTTTGCTAGAATCCCCCAAGCCCAGCAGGGAGCTGCTTTTACCACT GAACAGGATCAAGGGACAGAGGGAGACTAAGTTACATCTTTAAGAAACCC CACACCGTGTGCTTCTCCAGACACCTGCATCCAGACTCCTGTGTCTTAGG GCTGGGACCCAGCAGTGGGACCCCAGAGGAGCTGATGCCCGCCTTGGCTG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48698689	G G	GGCCTGGG others(871): Show GGCCTGGGAGGGTTGTATGTGACCGGAAGCTTGAGTGAGTCTCCAGATGA TGCTGGGGTTTATAATGAGCACGGGACACCTGGGAACAAGGCAGGTCTCC CAGGCAATCATCAGGAACCACCTGGGCAGCGCTGGACCCCTGGTTCTACC TCAGGAATGAGAAGGGTGGAGGCGAGGAGGTCTCTTGGGAGGAAGATGTG CCAGGAGTGCCAGTAGGTCGGGCCTGGGAACTCGTGGAGGCTTCTCACAC CGGAGGATGCTGGATCTGCGCTGAGCACAGCAGGGTGGCTGTGGGGCCTG GCGGCTCCTGTGGAGGGAGCGACTCTGGACCTGGAGACAGGAGTGCCAGG CAGGTGGGCAGCAGGGAGACTTTGCATCCCAGGCTCCTGGGGCCCTGGGG GCCTTAGGAACGCTCTCCCAGGAGGGAGCATCAGGGCTGAGCAGCCTCCA GGCTTAGCGCAGTGCCCTATGAGACCTTCTCTCCTGCTCTACCCTGGCCC TGCCTGGGGTGAAGGAGACAGAGGCAGGGGACCAGGCCCTGCCCGGATGC CCAGCTACAGGCCAGAAGACAATGGCGCTCAGTCAGGTGCTACGTTTTCA TTACTGGGACCAGCATGTAATTACTGCAGGAGGCTGCAGTGACCCAGGAG GTTCCCTTACCTCCGAGGGACTAAGATAGCTGGAGTTTGCTAGAATCCCC CAAGCCCAGCAGGGAGCTGCTTTTACCACTGAACAGGATCAAGGGACAGA GGGAGACTAAGTTACATCTTTAAGAAACCCCACACCGTGTGCTTCTCCAG ACACCTGCATCCAGACTCCTGTGTCTTAGGGCTGGGACCCAGCAGTGGGA CCCCAGAGGAGCTGATGCCCGCCTTGGCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0034 a0001c0001t0033g0034	1	258	0.0039	878	c.263 others(895): Show c.263-9027_263-9026insCCTGGGAGGGTTGTATGTGACCGGAAGC TTGAGTGAGTCTCCAGATGATGCTGGGGTTTATAATGAGCACGGGACACC TGGGAACAAGGCAGGTCTCCCAGGCAATCATCAGGAACCACCTGGGCAGC GCTGGACCCCTGGTTCTACCTCAGGAATGAGAAGGGTGGAGGCGAGGAGG TCTCTTGGGAGGAAGATGTGCCAGGAGTGCCAGTAGGTCGGGCCTGGGAA CTCGTGGAGGCTTCTCACACCGGAGGATGCTGGATCTGCGCTGAGCACAG CAGGGTGGCTGTGGGGCCTGGCGGCTCCTGTGGAGGGAGCGACTCTGGAC CTGGAGACAGGAGTGCCAGGCAGGTGGGCAGCAGGGAGACTTTGCATCCC AGGCTCCTGGGGCCCTGGGGGCCTTAGGAACGCTCTCCCAGGAGGGAGCA TCAGGGCTGAGCAGCCTCCAGGCTTAGCGCAGTGCCCTATGAGACCTTCT CTCCTGCTCTACCCTGGCCCTGCCTGGGGTGAAGGAGACAGAGGCAGGGG ACCAGGCCCTGCCCGGATGCCCAGCTACAGGCCAGAAGACAATGGCGCTC AGTCAGGTGCTACGTTTTCATTACTGGGACCAGCATGTAATTACTGCAGG AGGCTGCAGTGACCCAGGAGGTTCCCTTACCTCCGAGGGACTAAGATAGC TGGAGTTTGCTAGAATCCCCCAAGCCCAGCAGGGAGCTGCTTTTACCACT GAACAGGATCAAGGGACAGAGGGAGACTAAGTTACATCTTTAAGAAACCC CACACCGTGTGCTTCTCCAGACACCTGCATCCAGACTCCTGTGTCTTAGG GCTGGGACCCAGCAGTGGGACCCCAGAGGAGCTGATGCCCGCCTTGGCTG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48698689	G G	GGCCTGGG others(871): Show GGCCTGGGAGGGTTGTATGTGACCGGAAGCTTGAGTGAGTCTCCAGATGA TGCTGGGGTTTATAATGAGCACGGGACACCTGGGAACAAGGCAGGTCTCC CAGGCAATCATCAGGAACCACCTGGGCAGCGCTGGACCCCTGGTTCTACC TCAGGAATGAGAAGGGTGGAGGCGAGGAGGTCTCTTGGGAGGAAGATGTG CCAGGAGTGCCAGTAGGTCGGGCCTGGGAACTCGTGGAGGCTTCTCACAC CGGAGGATGCTGGATCTGCGCTGAGCACAGCAGGGTGGCTGTGGGGCCTG GCGGCTCCTGTGGAGGGAGCGACTCTGGACCTGGAGACAGGAGTGCCAGG CAGGTGGGCAGCAGGGAGACTTTGCATCCCAGGCTCCTGGGGCCCTGGGG GCCTTAGGAACGCTCTCCCAGGAGGGAGCATCAGGGCTGAGCAGCCTCCA GGCTTAGCGCAGTGCCCTATGAGACCTTCTCTCCTGCTCTACCCTGGCCC TGCCTGGGGTGAAGGAGACAGAGGCAGGGGACCAGGCCCTGCCCGGATGC CCAGCTACAGGCCAGAAGACAATGGCGCTCAGTCAGGTGCTACGTTTTCA TTACTGGGACCAGCATGTAATTACTGCATGAGGCTGCAGTGACCCAGGAG GTTCCCTTACCTCCGAGGGACTAAGATAGCTGGAGTTTGCTAGAATCCCC CAAGCCCAGCAGGGAGCTGCTTTTACCACTGAACAGGATCAAGGGACAGA GGGAGACTAAGTTACATCTTTAAGAAACCCCACACCGTGTGCTTCTCCAG ACACCTGCATCCAGACTCCTGTGTCTTAGGGCTGGGACCCAGCAGTGGGA CCCCAGAGGAGCTGATGCCCGCCTTGGCT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02647.hp1 HG03540.hp1 others(1): Show HG01433.hp2 HG02647.hp1 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0015 a0001c0001t0002 a0001c0001t0007 a0001c0001t0015	a0001c0001t0002g0074 a0001c0001t0002g0147 a0001c0001t0007g0148 others(1): Show a0001c0001t0002g0074 a0001c0001t0002g0147 a0001c0001t0007g0148 a0001c0001t0015g0005	4	258	0.0155	878	c.263 others(895): Show c.263-9027_263-9026insCCTGGGAGGGTTGTATGTGACCGGAAGC TTGAGTGAGTCTCCAGATGATGCTGGGGTTTATAATGAGCACGGGACACC TGGGAACAAGGCAGGTCTCCCAGGCAATCATCAGGAACCACCTGGGCAGC GCTGGACCCCTGGTTCTACCTCAGGAATGAGAAGGGTGGAGGCGAGGAGG TCTCTTGGGAGGAAGATGTGCCAGGAGTGCCAGTAGGTCGGGCCTGGGAA CTCGTGGAGGCTTCTCACACCGGAGGATGCTGGATCTGCGCTGAGCACAG CAGGGTGGCTGTGGGGCCTGGCGGCTCCTGTGGAGGGAGCGACTCTGGAC CTGGAGACAGGAGTGCCAGGCAGGTGGGCAGCAGGGAGACTTTGCATCCC AGGCTCCTGGGGCCCTGGGGGCCTTAGGAACGCTCTCCCAGGAGGGAGCA TCAGGGCTGAGCAGCCTCCAGGCTTAGCGCAGTGCCCTATGAGACCTTCT CTCCTGCTCTACCCTGGCCCTGCCTGGGGTGAAGGAGACAGAGGCAGGGG ACCAGGCCCTGCCCGGATGCCCAGCTACAGGCCAGAAGACAATGGCGCTC AGTCAGGTGCTACGTTTTCATTACTGGGACCAGCATGTAATTACTGCATG AGGCTGCAGTGACCCAGGAGGTTCCCTTACCTCCGAGGGACTAAGATAGC TGGAGTTTGCTAGAATCCCCCAAGCCCAGCAGGGAGCTGCTTTTACCACT GAACAGGATCAAGGGACAGAGGGAGACTAAGTTACATCTTTAAGAAACCC CACACCGTGTGCTTCTCCAGACACCTGCATCCAGACTCCTGTGTCTTAGG GCTGGGACCCAGCAGTGGGACCCCAGAGGAGCTGATGCCCGCCTTGGCTG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48698689	G G	GGCCTGGG others(871): Show GGCCTGGGAGGGTTGTATGTGACCGGAAGCTTGAGTGAGTCTCCAGATGA TGCTGGGGTTTATAATGAGCACGGGACACCTGGGAACAAGGCAGGTCTCC CAGGCAATCATCAGGAACCACCTGGGCGGCGCTGGACCCCTGGTTCTACC TCAGGAATGAGAAGGGTGGAGGCGAGGAGGTCTCTTGGGAGGAAGATGTG CCAGGAGTGCCAGTAGGTCGGGCCTGGGAACTCATGGAGGCTTCTCACAC CGGAGGATGCTGGATCTGTGCTGAGCACAGCAGGGTGGCTGTGGGGCCTG GCGGCTCCTGTGGAGGGAGCGACTCTGGACCTGGAGACAGGAGTGCCAGG CAGGTGGGCAGCAGGGAGACTTTGCATCCCAGGCTCCTGGGGCCCTGGGG GCCTTAGGAACGCTCTCCCAGGAGGGAGCATCAGGGCTGAGCAGCCTCCA GGCTTAGCGCAGTGCCCTATGAGACCTTCTCTCCTGCTCCACCCTGGCCC TGCCTGGGGTGAAGGAGACAGAGGCAGGGGACCAGGCCCTGCCCGGATGC CCAGCTACAGGCCAGAAGACAATGGCGCTCAGTCAGGTGCTACGTTTTCA TTACTGGGACCAGCATGTAATTACTGCATGAGGCTGCAGTGACCCAGGAG GTTCCCTTACCTCCGAGGGACTAAGATAGCTGGAGTTTGCTAGAATCCCC CAAGCCCAGCAGGGAGCTGCTTTTACCACTGAACAGGATCAAGGGACAGA GGGAGACTAAGTTACATCTTTAAGAAACCCCACACCGTGTGCTTCTCCAG ACACCTGCATCCAGACTCCTGTGTCTTAGGGCTGGGACCCAGCAGTGGGA CCCCAGAGGAGCTGATGCCCGCCTTGGCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	258	0.0039	878	c.263 others(895): Show c.263-9027_263-9026insCCTGGGAGGGTTGTATGTGACCGGAAGC TTGAGTGAGTCTCCAGATGATGCTGGGGTTTATAATGAGCACGGGACACC TGGGAACAAGGCAGGTCTCCCAGGCAATCATCAGGAACCACCTGGGCGGC GCTGGACCCCTGGTTCTACCTCAGGAATGAGAAGGGTGGAGGCGAGGAGG TCTCTTGGGAGGAAGATGTGCCAGGAGTGCCAGTAGGTCGGGCCTGGGAA CTCATGGAGGCTTCTCACACCGGAGGATGCTGGATCTGTGCTGAGCACAG CAGGGTGGCTGTGGGGCCTGGCGGCTCCTGTGGAGGGAGCGACTCTGGAC CTGGAGACAGGAGTGCCAGGCAGGTGGGCAGCAGGGAGACTTTGCATCCC AGGCTCCTGGGGCCCTGGGGGCCTTAGGAACGCTCTCCCAGGAGGGAGCA TCAGGGCTGAGCAGCCTCCAGGCTTAGCGCAGTGCCCTATGAGACCTTCT CTCCTGCTCCACCCTGGCCCTGCCTGGGGTGAAGGAGACAGAGGCAGGGG ACCAGGCCCTGCCCGGATGCCCAGCTACAGGCCAGAAGACAATGGCGCTC AGTCAGGTGCTACGTTTTCATTACTGGGACCAGCATGTAATTACTGCATG AGGCTGCAGTGACCCAGGAGGTTCCCTTACCTCCGAGGGACTAAGATAGC TGGAGTTTGCTAGAATCCCCCAAGCCCAGCAGGGAGCTGCTTTTACCACT GAACAGGATCAAGGGACAGAGGGAGACTAAGTTACATCTTTAAGAAACCC CACACCGTGTGCTTCTCCAGACACCTGCATCCAGACTCCTGTGTCTTAGG GCTGGGACCCAGCAGTGGGACCCCAGAGGAGCTGATGCCCGCCTTGGCTG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48698689	G G	GGCCTGGG others(871): Show GGCCTGGGAGGGTTGTATGTGACCGGAAGCTTGAGTGAGTCTCCAGATGA TGCTGGGGTTTATAATGAGCACGGGACACCTGGGAACAAGGCAGGTCTCC CAGGCAATCATCAGGAACCACCTGGGCGGCGCTGGACCCCTGGTTCTACC TCAGGAATGAGAAGGGTGGAGGCGAGGAGGTCTCTTGGGAGGAAGATGTG CCAGGAGTGCCAGTAGGTCGGGCCTGGGAACTCGTGGAGGCTTCTCACAC CGGAGGATGCTGGATCTGCGCTGAGCACAGCAGGGTGGCTGTGGGGCCTG GCGGCTCCTGTGGAGGAAGCGACTCTGGACCTGGAGACAGGAGTGCCAGG CAGGTGGGCAGCAGGGAGACTTTGCATCCCAGGCTCCTGGGGCCCTGGGG GCCTTAGGAACGCTCTCCCAGGAGGGAGCATCAGGGCTGAGCAGCCTCCA GGCTTAGCGCAGTGCCCTATGAGACCTTCTCTCCTGCTCCACCCTGGCCC TGCCTGGGGTGAAGGAGACAGAGGCAGGGGACCAGGCCCTGCCCGGATGC CCAGCTACAGGCCAGAAGACAATGGCGCTCAGTCAGGTGCTACGTTTTCA TTACTGGGACCAGCATGTAATTACTGCACGAGGCTGCAGTGACCCAGGAG GTTCCCTTACCTCCGAGGGACTAAGATAGCTGGAGTTTGCTAGAATCCCC CAAGCCCAGCAGGGAGCTGCTTTTACCACTGAACAGGATCAAGGGACAGA GGGAGACTAAGTTACATCTTTAAGAAACCCCACACCGTGTGCTTCTCCAG ACACCTGCATCCAGACTCCTGTGTCTTAGGGCTGGGACCCAGCAGTGGGA CCCCAGAGGAGCTGATGCCCGCCTTGGCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	258	0.0039	878	c.263 others(895): Show c.263-9027_263-9026insCCTGGGAGGGTTGTATGTGACCGGAAGC TTGAGTGAGTCTCCAGATGATGCTGGGGTTTATAATGAGCACGGGACACC TGGGAACAAGGCAGGTCTCCCAGGCAATCATCAGGAACCACCTGGGCGGC GCTGGACCCCTGGTTCTACCTCAGGAATGAGAAGGGTGGAGGCGAGGAGG TCTCTTGGGAGGAAGATGTGCCAGGAGTGCCAGTAGGTCGGGCCTGGGAA CTCGTGGAGGCTTCTCACACCGGAGGATGCTGGATCTGCGCTGAGCACAG CAGGGTGGCTGTGGGGCCTGGCGGCTCCTGTGGAGGAAGCGACTCTGGAC CTGGAGACAGGAGTGCCAGGCAGGTGGGCAGCAGGGAGACTTTGCATCCC AGGCTCCTGGGGCCCTGGGGGCCTTAGGAACGCTCTCCCAGGAGGGAGCA TCAGGGCTGAGCAGCCTCCAGGCTTAGCGCAGTGCCCTATGAGACCTTCT CTCCTGCTCCACCCTGGCCCTGCCTGGGGTGAAGGAGACAGAGGCAGGGG ACCAGGCCCTGCCCGGATGCCCAGCTACAGGCCAGAAGACAATGGCGCTC AGTCAGGTGCTACGTTTTCATTACTGGGACCAGCATGTAATTACTGCACG AGGCTGCAGTGACCCAGGAGGTTCCCTTACCTCCGAGGGACTAAGATAGC TGGAGTTTGCTAGAATCCCCCAAGCCCAGCAGGGAGCTGCTTTTACCACT GAACAGGATCAAGGGACAGAGGGAGACTAAGTTACATCTTTAAGAAACCC CACACCGTGTGCTTCTCCAGACACCTGCATCCAGACTCCTGTGTCTTAGG GCTGGGACCCAGCAGTGGGACCCCAGAGGAGCTGATGCCCGCCTTGGCTG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48698689	G G	GGCCTGGG others(871): Show GGCCTGGGAGGGTTGTATGTGACCGGAAGCTTGAGTGAGTCTCCAGATGA TGCTGGGGTTTATAATGAGCACGGGACACCTGGGAACAAGGCAGGTCTCC CAGGCAATCATCAGGAACCACCTGGGCGGCGCTGGACCCCTGGTTCTACC TCAGGAATGAGAAGGGTGGAGGCGAGGAGGTCTCTTGGGAGGAAGATGTG CCAGGAGTGCCAGTAGGTCGGGCCTGGGAACTCGTGGAGGCTTCTCACAC CGGAGGATGCTGGATCTGCGCTGAGCACAGCAGGGTGGCTGTGGGGCCTG GCGGCTCCTGTGGAGGGAGCAACTCTGGACCTGGAGACAGGAGTGCCAGG CAGGTGGGCAGCAGGGAGACTTTGCATCCCAGGCTCCTGGGGCCCTGGGG GCCTTAGGAACGCTCTCCCAGGAGGGAGCATCAGGGCTGAGCAGCCTCCA GGCTTAGCGCAGTGCCCTATGAGACCTTCTCTCCTGCTCCACCCTGGCCC TGCCTGGGGTGAAGGAGACAGAGGCAGGGGACCAGGCCCTGCCCGGATGC CCAGCTACAGGCCAGAAGACAATGGCGCTCAGTCAGGTGCTACGTTTTCA TTACTGGGACCAGCATGTAATTACTGCATGAGGCTGCAGTGACCCAGGAG GTTCCCTTACCTCCGAGGGACTAAGATAGCTGGAGTTTGCTAGAATCCCC CAAGCCCAGCAGGGAGCTGCTTTTACCACTGAACAGGATCAAGGGACAGA GGGAGACTAAGTTACATCTTTAAGAAACCCCACACCGTGTGCTTCTCCAG ACACCTGCATCCAGACTCCTGTGTCTTAGGGCTGGGACCCAGCAGTGGGA CCCCAGAGGAGCTGATGCCCGCCTTGGCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG02135.hp2 others(2): Show HG00423.hp1 HG00597.hp2 HG02135.hp2 HG02145.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0112 others(2): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0211 a0001c0001t0001g0215	5	258	0.0194	878	c.263 others(895): Show c.263-9027_263-9026insCCTGGGAGGGTTGTATGTGACCGGAAGC TTGAGTGAGTCTCCAGATGATGCTGGGGTTTATAATGAGCACGGGACACC TGGGAACAAGGCAGGTCTCCCAGGCAATCATCAGGAACCACCTGGGCGGC GCTGGACCCCTGGTTCTACCTCAGGAATGAGAAGGGTGGAGGCGAGGAGG TCTCTTGGGAGGAAGATGTGCCAGGAGTGCCAGTAGGTCGGGCCTGGGAA CTCGTGGAGGCTTCTCACACCGGAGGATGCTGGATCTGCGCTGAGCACAG CAGGGTGGCTGTGGGGCCTGGCGGCTCCTGTGGAGGGAGCAACTCTGGAC CTGGAGACAGGAGTGCCAGGCAGGTGGGCAGCAGGGAGACTTTGCATCCC AGGCTCCTGGGGCCCTGGGGGCCTTAGGAACGCTCTCCCAGGAGGGAGCA TCAGGGCTGAGCAGCCTCCAGGCTTAGCGCAGTGCCCTATGAGACCTTCT CTCCTGCTCCACCCTGGCCCTGCCTGGGGTGAAGGAGACAGAGGCAGGGG ACCAGGCCCTGCCCGGATGCCCAGCTACAGGCCAGAAGACAATGGCGCTC AGTCAGGTGCTACGTTTTCATTACTGGGACCAGCATGTAATTACTGCATG AGGCTGCAGTGACCCAGGAGGTTCCCTTACCTCCGAGGGACTAAGATAGC TGGAGTTTGCTAGAATCCCCCAAGCCCAGCAGGGAGCTGCTTTTACCACT GAACAGGATCAAGGGACAGAGGGAGACTAAGTTACATCTTTAAGAAACCC CACACCGTGTGCTTCTCCAGACACCTGCATCCAGACTCCTGTGTCTTAGG GCTGGGACCCAGCAGTGGGACCCCAGAGGAGCTGATGCCCGCCTTGGCTG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48698689	G G	GGCCTGGG others(871): Show GGCCTGGGAGGGTTGTATGTGACCGGAAGCTTGAGTGAGTCTCCAGATGA TGCTGGGGTTTATAATGAGCACGGGACACCTGGGAACAAGGCAGGTCTCC CAGGCAATCATCAGGAACCACCTGGGCGGCGCTGGACCCCTGGTTCTACC TCAGGAATGAGAAGGGTGGAGGCGAGGAGGTCTCTTGGGAGGAAGATGTG CCAGGAGTGCCAGTAGGTCGGGCCTGGGAACTCGTGGAGGCTTCTCACAC CGGAGGATGCTGGATCTGCGCTGAGCACAGCAGGGTGGCTGTGGGGCCTG GCGGCTCCTGTGGAGGGAGCGACTCTGGACCTGGAGACAGGAGTGCCAGG CAGGTGGGCAGCAGGGAGACTTTGCATCCCAGGCTCCTGGGGCCCTGGGG GCCTTAGGAACGCTCTCCCAGGAGGGAGCATCAGGGCTGAGCAGCCTCCA GGCTTAGCGCAGTGCCCTATGAGACCTTCTCTCCTGCTCCACCCTGGCCC TGCCTGGGGTGAAGGAGACAGAGGCAGGGGACCAGGCCCTGCCCGGATGC CCAGCTACAGGCCAGAAGACAATGGCGCTCAGTCAGGTGCTACGTTTTCA TTACTGGGACCAGCATGTAATTACTGCACGAGGCTGCAGTGACCCAGGAG GTTCCCTTACCTCCGAGGGACTAAGATAGCTGGAGTTTGCTAGAATCCCC CAAGCCCAGCAGGGAGCTGCTTTTACCACTGAACAGGATCAAGGGACAGA GGGAGACTAAGTTACATCTTTAAGAAACCCCACACCGTGTGCTTCTCCAG ACACCTGCATCCAGACTCCTGTGTCTTAGGGCTGGGACCCAGCAGTGGGA CCCCAGAGGAGCTGATGCCCGCCTTGGCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01884.hp1 HG02132.hp1 others(13): Show HG01074.hp2 HG01884.hp1 HG02132.hp1 HG02572.hp2 HG02622.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 NA18747.hp1 NA18747.hp2 NA18971.hp2 NA19012.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031	a0001c0001t0001g0093 a0001c0001t0001g0108 a0001c0001t0001g0175 others(13): Show a0001c0001t0001g0093 a0001c0001t0001g0108 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0096 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0237 a0001c0001t0003g0008 a0001c0001t0003g0062 a0001c0001t0004g0020 a0001c0001t0028g0018 a0001c0001t0030g0169 a0001c0001t0031g0141	16	258	0.0620	878	c.263 others(895): Show c.263-9027_263-9026insCCTGGGAGGGTTGTATGTGACCGGAAGC TTGAGTGAGTCTCCAGATGATGCTGGGGTTTATAATGAGCACGGGACACC TGGGAACAAGGCAGGTCTCCCAGGCAATCATCAGGAACCACCTGGGCGGC GCTGGACCCCTGGTTCTACCTCAGGAATGAGAAGGGTGGAGGCGAGGAGG TCTCTTGGGAGGAAGATGTGCCAGGAGTGCCAGTAGGTCGGGCCTGGGAA CTCGTGGAGGCTTCTCACACCGGAGGATGCTGGATCTGCGCTGAGCACAG CAGGGTGGCTGTGGGGCCTGGCGGCTCCTGTGGAGGGAGCGACTCTGGAC CTGGAGACAGGAGTGCCAGGCAGGTGGGCAGCAGGGAGACTTTGCATCCC AGGCTCCTGGGGCCCTGGGGGCCTTAGGAACGCTCTCCCAGGAGGGAGCA TCAGGGCTGAGCAGCCTCCAGGCTTAGCGCAGTGCCCTATGAGACCTTCT CTCCTGCTCCACCCTGGCCCTGCCTGGGGTGAAGGAGACAGAGGCAGGGG ACCAGGCCCTGCCCGGATGCCCAGCTACAGGCCAGAAGACAATGGCGCTC AGTCAGGTGCTACGTTTTCATTACTGGGACCAGCATGTAATTACTGCACG AGGCTGCAGTGACCCAGGAGGTTCCCTTACCTCCGAGGGACTAAGATAGC TGGAGTTTGCTAGAATCCCCCAAGCCCAGCAGGGAGCTGCTTTTACCACT GAACAGGATCAAGGGACAGAGGGAGACTAAGTTACATCTTTAAGAAACCC CACACCGTGTGCTTCTCCAGACACCTGCATCCAGACTCCTGTGTCTTAGG GCTGGGACCCAGCAGTGGGACCCCAGAGGAGCTGATGCCCGCCTTGGCTG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48698689	G G	GGCCTGGG others(871): Show GGCCTGGGAGGGTTGTATGTGACCGGAAGCTTGAGTGAGTCTCCAGATGA TGCTGGGGTTTATAATGAGCACGGGACACCTGGGAACAAGGCAGGTCTCC CAGGCAATCATCAGGAACCACCTGGGCGGCGCTGGACCCCTGGTTCTACC TCAGGAATGAGAAGGGTGGAGGCGAGGAGGTCTCTTGGGAGGAAGATGTG CCAGGAGTGCCAGTAGGTCGGGCCTGGGAACTCGTGGAGGCTTCTCACAC CGGAGGATGCTGGATCTGCGCTGAGCACAGCAGGGTGGCTGTGGGGCCTG GCGGCTCCTGTGGAGGGAGCGACTCTGGACCTGGAGACAGGAGTGCCAGG CAGGTGGGCAGCAGGGAGACTTTGCATCCCAGGCTCCTGGGGCCCTGGGG GCCTTAGGAACGCTCTCCCAGGAGGGAGCATCAGGGCTGAGCAGCCTCCA GGCTTAGCGCAGTGCCCTATGAGACCTTCTCTCCTGCTCCACCCTGGCCC TGCCTGGGGTGAAGGAGACAGAGGCAGGGGACCAGGCCCTGCCCGGATGC CCAGCTACAGGCCAGAAGACAATGGCGCTCAGTCAGGTGCTACGTTTTCA TTACTGGGACCAGCATGTAATTACTGCATGAGGCTGCAGTGACCCAGGAG GTTCCCTTACCTCCGAGGGACTAAGATAGCTGGAGTTTGCTAGAATCCCC CAAGCCCAGCAGGGAGCTGCTTTTACCACTGAACAGGATCAAGGGACAGA GGGAGACTAAGTTACATCTTTAAGAAACCCCACACCGTGTGCTTCTCCAG ACACCTGCATCCAGACTCCTGTGTCTTAGGGCTGGGACCCAGCAGTGGGA CCCCAGAGGAGCTGATGCCCGCCTTGGCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(76): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01258.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02735.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18972.hp1 NA18980.hp2 NA19011.hp1 NA19030.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0027 a0001c0001t0029 a0001c0001t0032 a0001c0001t0036 a0001c0003t0012	a0001c0001t0001g0041 a0001c0001t0001g0097 a0001c0001t0001g0124 others(76): Show a0001c0001t0001g0041 a0001c0001t0001g0097 a0001c0001t0001g0124 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0181 a0001c0001t0001g0204 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0258 a0001c0001t0002g0007 a0001c0001t0002g0024 a0001c0001t0002g0046 a0001c0001t0002g0054 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0239 a0001c0001t0002g0248 a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0022 a0001c0001t0003g0051 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0063 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0088 a0001c0001t0003g0110 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0122 a0001c0001t0003g0129 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0149 a0001c0001t0003g0160 a0001c0001t0003g0168 a0001c0001t0003g0178 a0001c0001t0003g0201 a0001c0001t0003g0206 a0001c0001t0003g0219 a0001c0001t0003g0228 a0001c0001t0003g0231 a0001c0001t0003g0238 a0001c0001t0003g0250 a0001c0001t0004g0027 a0001c0001t0005g0080 a0001c0001t0005g0104 a0001c0001t0005g0143 a0001c0001t0005g0244 a0001c0001t0005g0246 a0001c0001t0006g0071 a0001c0001t0007g0031 a0001c0001t0007g0050 a0001c0001t0007g0155 a0001c0001t0008g0209 a0001c0001t0008g0212 a0001c0001t0008g0221 a0001c0001t0009g0043 a0001c0001t0009g0152 a0001c0001t0010g0176 a0001c0001t0010g0224 a0001c0001t0015g0013 a0001c0001t0019g0090 a0001c0001t0020g0032 a0001c0001t0022g0179 a0001c0001t0027g0118 a0001c0001t0029g0026 a0001c0001t0032g0033 a0001c0001t0036g0190 a0001c0003t0012g0144	79	258	0.3062	878	c.263 others(895): Show c.263-9027_263-9026insCCTGGGAGGGTTGTATGTGACCGGAAGC TTGAGTGAGTCTCCAGATGATGCTGGGGTTTATAATGAGCACGGGACACC TGGGAACAAGGCAGGTCTCCCAGGCAATCATCAGGAACCACCTGGGCGGC GCTGGACCCCTGGTTCTACCTCAGGAATGAGAAGGGTGGAGGCGAGGAGG TCTCTTGGGAGGAAGATGTGCCAGGAGTGCCAGTAGGTCGGGCCTGGGAA CTCGTGGAGGCTTCTCACACCGGAGGATGCTGGATCTGCGCTGAGCACAG CAGGGTGGCTGTGGGGCCTGGCGGCTCCTGTGGAGGGAGCGACTCTGGAC CTGGAGACAGGAGTGCCAGGCAGGTGGGCAGCAGGGAGACTTTGCATCCC AGGCTCCTGGGGCCCTGGGGGCCTTAGGAACGCTCTCCCAGGAGGGAGCA TCAGGGCTGAGCAGCCTCCAGGCTTAGCGCAGTGCCCTATGAGACCTTCT CTCCTGCTCCACCCTGGCCCTGCCTGGGGTGAAGGAGACAGAGGCAGGGG ACCAGGCCCTGCCCGGATGCCCAGCTACAGGCCAGAAGACAATGGCGCTC AGTCAGGTGCTACGTTTTCATTACTGGGACCAGCATGTAATTACTGCATG AGGCTGCAGTGACCCAGGAGGTTCCCTTACCTCCGAGGGACTAAGATAGC TGGAGTTTGCTAGAATCCCCCAAGCCCAGCAGGGAGCTGCTTTTACCACT GAACAGGATCAAGGGACAGAGGGAGACTAAGTTACATCTTTAAGAAACCC CACACCGTGTGCTTCTCCAGACACCTGCATCCAGACTCCTGTGTCTTAGG GCTGGGACCCAGCAGTGGGACCCCAGAGGAGCTGATGCCCGCCTTGGCTG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48698689	G G	GGCCTGGG others(871): Show GGCCTGGGAGGGTTGTATGTGACCGGAAGCTTGAGTGAGTCTCCAGATGA TGCTGGGGTTTATAATGAGCACGGGACACCTGGGAACAAGGCAGGTCTCC CAGGCAATCATCAGGAACCACCTGGGCGGCGCTGGACCCCTGGTTCTACC TCAGGAATGAGAAGGGTGGAGGCGAGGAGGTCTCTTGGGAGGAAGATGTG CCAGGAGTGCCAGTAGGTCGGGCCTGGGAACTCGTGGAGGCTTCTCACAC CGGAGGATGCTGGATCTGTGCTGAGCACAGCAGGGTGGCTGTGGGGCCTG GCGGCTCCTGTGGAGGGAGCGACTCTGGACCTGGAGACAGGAGTGCCAGG CAGGTGGGCAGCAGGGAGACTTTGCATCCCAGGCTCCTGGGGCCCTGGGG GCCTTAGGAACGCTCTCCCAGGAGGGAGCATCAGGGCTGAGCAGCCTCCA GGCTTAGCGCAGTGCCCTATGAGACCTTCTCTCCTGCTCCACCCTGGCCC TGCCTGGGGTGAAGGAGACAGAGGCAGGGGACCAGGCCCTGCCCGGATGC CCAGCTACAGGCCAGAAGACAATGGCGCTCAGTCAGGTGCTACGTTTTCA TTACTGGGACCAGCATGTAATTACTGCATGAGGCTGCAGTGACCCAGGAG GTTCCCTTACCTCCGAGGGACTAAGATAGCTGGAGTTTGCTAGAATCCCC CAAGCCCAGCAGGGAGCTGCTTTTACCACTGAACAGGATCAAGGGACAGA GGGAGACTAAGTTACATCTTTAAGAAACCCCACACCGTGTGCTTCTCCAG ACACCTGCATCCAGACTCCTGTGTCTTAGGGCTGGGACCCAGCAGTGGGA CCCCAGAGGAGCTGATGCCCGCCTTGGCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	258	0.0039	878	c.263 others(895): Show c.263-9027_263-9026insCCTGGGAGGGTTGTATGTGACCGGAAGC TTGAGTGAGTCTCCAGATGATGCTGGGGTTTATAATGAGCACGGGACACC TGGGAACAAGGCAGGTCTCCCAGGCAATCATCAGGAACCACCTGGGCGGC GCTGGACCCCTGGTTCTACCTCAGGAATGAGAAGGGTGGAGGCGAGGAGG TCTCTTGGGAGGAAGATGTGCCAGGAGTGCCAGTAGGTCGGGCCTGGGAA CTCGTGGAGGCTTCTCACACCGGAGGATGCTGGATCTGTGCTGAGCACAG CAGGGTGGCTGTGGGGCCTGGCGGCTCCTGTGGAGGGAGCGACTCTGGAC CTGGAGACAGGAGTGCCAGGCAGGTGGGCAGCAGGGAGACTTTGCATCCC AGGCTCCTGGGGCCCTGGGGGCCTTAGGAACGCTCTCCCAGGAGGGAGCA TCAGGGCTGAGCAGCCTCCAGGCTTAGCGCAGTGCCCTATGAGACCTTCT CTCCTGCTCCACCCTGGCCCTGCCTGGGGTGAAGGAGACAGAGGCAGGGG ACCAGGCCCTGCCCGGATGCCCAGCTACAGGCCAGAAGACAATGGCGCTC AGTCAGGTGCTACGTTTTCATTACTGGGACCAGCATGTAATTACTGCATG AGGCTGCAGTGACCCAGGAGGTTCCCTTACCTCCGAGGGACTAAGATAGC TGGAGTTTGCTAGAATCCCCCAAGCCCAGCAGGGAGCTGCTTTTACCACT GAACAGGATCAAGGGACAGAGGGAGACTAAGTTACATCTTTAAGAAACCC CACACCGTGTGCTTCTCCAGACACCTGCATCCAGACTCCTGTGTCTTAGG GCTGGGACCCAGCAGTGGGACCCCAGAGGAGCTGATGCCCGCCTTGGCTG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48698689	G G	GGCCTGGG others(871): Show GGCCTGGGAGGGTTGTATGTGACCGGAAGCTTGAGTGAGTCTCCGGATGA TGCTGGGGTTTATAATGAGCACGGGACACCTGGGAACAAGGCAGGTCTCC CAGGCAATCATCAGGAACCACCTGGGCGGCGCTGGACCCCTGGTTCTACC TCAGGAATGAGAAGGGTGGAGGCGAGGAGGTCTCTTGGGAGGAAGATGTG CCAGGAGTGCCAGTAGGTCGGGCCTGGGAACTCGTGGAGGCTTCTCACAC CGGAGGATGCTGGATCTGCGCTGAGCACAGCAGGGTGGCTGTGGGGCCTG GCGGCTCCTGTGGAGGGAGCGACTCTGGACCTGGAGACAGGAGTGCCAGG CAGGTGGGCAGCAGGGAGACTTTGCATCCCAGGCTCCTGGGGCCCTGGGG GCCTTAGGAACGCTCTCCCAGGAGGGAGCATCAGGGCTGAGCAGCCTCCA GGCTTAGCGCAGTGCCCTATGAGACCTTCTCTCCTGCTCCACCCTGGCCC TGCCTGGGGTGAAGGAGACAGAGGCAGGGGACCAGGCCCTGCCCGGATGC CCAGCTACAGGCCAGAAGACAATGGCGCTCAGTCAGGTGCTACGTTTTCA TTACTGGGACCAGCATGTAATTACTGCATGAGGCTGCAGTGACCCAGGAG GTTCCCTTACCTCCAAGGGACTAAGATAGCTGGAGTTTGCTAGAATCCCC CAAGCCCAGCAGGGAGCTGCTTTTACCACTGAACAGGATCAAGGGACAGA GGGAGACTAAGTTACATCTTTAAGAAACCCCACACCGTGTGCTTCTCCAG ACACCTGCATCCAGACTCCTGTGTCTTAGGGCTGGGACCCAGCAGTGGGA CCCCAGAGGAGCTGATGCCCGCCTTGGCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0044 a0001c0001t0034g0044	1	258	0.0039	878	c.263 others(895): Show c.263-9027_263-9026insCCTGGGAGGGTTGTATGTGACCGGAAGC TTGAGTGAGTCTCCGGATGATGCTGGGGTTTATAATGAGCACGGGACACC TGGGAACAAGGCAGGTCTCCCAGGCAATCATCAGGAACCACCTGGGCGGC GCTGGACCCCTGGTTCTACCTCAGGAATGAGAAGGGTGGAGGCGAGGAGG TCTCTTGGGAGGAAGATGTGCCAGGAGTGCCAGTAGGTCGGGCCTGGGAA CTCGTGGAGGCTTCTCACACCGGAGGATGCTGGATCTGCGCTGAGCACAG CAGGGTGGCTGTGGGGCCTGGCGGCTCCTGTGGAGGGAGCGACTCTGGAC CTGGAGACAGGAGTGCCAGGCAGGTGGGCAGCAGGGAGACTTTGCATCCC AGGCTCCTGGGGCCCTGGGGGCCTTAGGAACGCTCTCCCAGGAGGGAGCA TCAGGGCTGAGCAGCCTCCAGGCTTAGCGCAGTGCCCTATGAGACCTTCT CTCCTGCTCCACCCTGGCCCTGCCTGGGGTGAAGGAGACAGAGGCAGGGG ACCAGGCCCTGCCCGGATGCCCAGCTACAGGCCAGAAGACAATGGCGCTC AGTCAGGTGCTACGTTTTCATTACTGGGACCAGCATGTAATTACTGCATG AGGCTGCAGTGACCCAGGAGGTTCCCTTACCTCCAAGGGACTAAGATAGC TGGAGTTTGCTAGAATCCCCCAAGCCCAGCAGGGAGCTGCTTTTACCACT GAACAGGATCAAGGGACAGAGGGAGACTAAGTTACATCTTTAAGAAACCC CACACCGTGTGCTTCTCCAGACACCTGCATCCAGACTCCTGTGTCTTAGG GCTGGGACCCAGCAGTGGGACCCCAGAGGAGCTGATGCCCGCCTTGGCTG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TMPRSS2_chr21_41459305_41513158	41474830	A A	AGTAAGGA others(871): Show AGTAAGGAGGTGAGGGGGTGAGTGAGGGGGTGGGTGAGGGGTGGGTGAGG GGATGAGGGAGTGATTCAGAGGGTGAAGGGGTGAGTGAGGGAGTGAAGGC ATGATTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGACTGAGGGGTGAAGG GGGGAGTGAGGAGGAGAGTGAGGGGGTGAAGGCATGAGTGAGGGGGTGAA TGGGTGAGAGACGGGGTGAGTGAGGGGTGAAGGGATGAATGAGGGGGTAA GTAAGGGGTTGAGGGGGTGAGGGGGTGAGTGAGGAGGTGAAGGGTGAGTG AGGGCGTGAGGGGGTGAGGGAGTGAGGGATTAGTGAGGGGGTGAGGGGTT GAGTGAGGAGGTGAGCAGGTGGGTGAGTGGATGAAGGGGTGAGTGAGGGG GTGAGGGGTGAATGAGGGGTTGAGTAGGGGGTGAGTGAGGAGGTGAGGTG GTGAGTGAGGGGGTGAAGGGTGAGTGAGGGGGTGAGGAGGTGAGTGAGGG GGTGACGGGGTGGGGTGAGGGAGGGATGAGGGGGAGAGTGAGGAGGTGAG GAGGTGAGTGAGGGTTGAGGGAGTGAGGGGGTGAGTGAGGGGGCGAAGGG GTGAGTGAGGGGGTGAGGGGGCGAGGGGGTGAGTGAGGGGGCGAGGGGGT GAGTGAGGGGGCGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAG GTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGT GACTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGTGAGTGAGGGGG TGAGGGGGTGAGTGAGGAGGTGAGCGGGTGAGTGAGGGGGTGAGGGGGTG AGTGAGGAGGTGAGCGGGTGAGTGAGGAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0300 a0001c0002t0001g0300	1	382	0.0026	878	c.728 others(895): Show c.728-1335_728-1334insCTCCTCACTCACCCGCTCACCTCCTCAC TCACCCCCTCACCCCCTCACTCACCCGCTCACCTCCTCACTCACCCCCTC ACCCCCTCACTCACCCCTCACCCCCTCACTCACCCCCTCACCTCCTCAGT CACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCA CCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCGCCCCCTCACT CACCCCCTCGCCCCCTCACTCACCCCCTCGCCCCCTCACCCCCTCACTCA CCCCTTCGCCCCCTCACTCACCCCCTCACTCCCTCAACCCTCACTCACCT CCTCACCTCCTCACTCTCCCCCTCATCCCTCCCTCACCCCACCCCGTCAC CCCCTCACTCACCTCCTCACCCCCTCACTCACCCTTCACCCCCTCACTCA CCACCTCACCTCCTCACTCACCCCCTACTCAACCCCTCATTCACCCCTCA CCCCCTCACTCACCCCTTCATCCACTCACCCACCTGCTCACCTCCTCACT CAACCCCTCACCCCCTCACTAATCCCTCACTCCCTCACCCCCTCACGCCC TCACTCACCCTTCACCTCCTCACTCACCCCCTCACCCCCTCAACCCCTTA CTTACCCCCTCATTCATCCCTTCACCCCTCACTCACCCCGTCTCTCACCC ATTCACCCCCTCACTCATGCCTTCACCCCCTCACTCTCCTCCTCACTCCC CCCTTCACCCCTCAGTCACCCCCTCACTCACCCCTTCACCCCCTCAATCA TGCCTTCACTCCCTCACTCACCCCTTCACCCTCTGAATCACTCCCTCATC CCCTCACCCACCCCTCACCCACCCCCTCACTCACCCCCTCACCTCCTTAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS2_chr21_41459305_41513158	41474830	A A	AGTAAGGA others(871): Show AGTAAGGAGGTGAGGGGGTGAGTGAGGGGGTGGGTGAGGGGTGGGTGAGG GGATGAGGGAGTGATTCAGAGGGTGAAGGGGTGAGTGAGGGAGTGAAGGC ATGATTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGACTGAGGGGTGAAGG GGGGAGTGAGGAGGAGAGTGAGGGGGTGAAGGCATGAGTGAGGGGGTGAA TGGGTGAGAGACGGGGTGAGTGAGGGGTGAAGGGATGAATGAGGGGGTAA GTAAGGGGTTGAGGGGGTGAGGGGGTGAGTGAGGAGGTGAAGGGTGAGTG AGGGCGTGAGGGGGTGAGGGAGTGAGGGATTAGTGAGGGGGTGAGGGGTT GAGTGAGGAGGTGAGCAGGTGGGTGAGTGGATGAAGGGGTGAGTGAGGGG GTGAGGGGTGAATGAGGGGTTGAGTAGGGGGTGAGTGAGGAGGTGAGGTG GTGAGTGAGGGGGTGAAGGGTGAGTGAGGGGGTGAGGAGGTGAGTGAGGG GGTGACGGGGTGGGGTGAGGGAGGGATGAGGGGGAGAGTGAGGAGGTGAG GAGGTGAGTGAGGGTTGAGGGAGTGAGGGGGTGAGTGAGGGGGTGAGGGG GTGAAGGCGTGAGTGAGGGGGTAAGGGGATGAGTGAGGGGGTGAGGGGTG AGTGAGGGGGTGAGGGGGTGAGTGAGGGGGCGAGGGGGTGAGTGAGGAGG TGAGCGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTG AGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGG TGAGGGGGTGAGTGAGGGGGCGAGGGGGTGAGTGAGGAGGTGAGCGGGTG AGTGAGGAGGTGAGGGGGTGAGTGAGGAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0348 a0001c0001t0001g0348	1	382	0.0026	878	c.728 others(895): Show c.728-1335_728-1334insCTCCTCACTCACCCCCTCACCTCCTCAC TCACCCGCTCACCTCCTCACTCACCCCCTCGCCCCCTCACTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCGCTC ACCTCCTCACTCACCCCCTCGCCCCCTCACTCACCCCCTCACCCCCTCAC TCACCCCTCACCCCCTCACTCATCCCCTTACCCCCTCACTCACGCCTTCA CCCCCTCACCCCCTCACTCACCCCCTCACTCCCTCAACCCTCACTCACCT CCTCACCTCCTCACTCTCCCCCTCATCCCTCCCTCACCCCACCCCGTCAC CCCCTCACTCACCTCCTCACCCCCTCACTCACCCTTCACCCCCTCACTCA CCACCTCACCTCCTCACTCACCCCCTACTCAACCCCTCATTCACCCCTCA CCCCCTCACTCACCCCTTCATCCACTCACCCACCTGCTCACCTCCTCACT CAACCCCTCACCCCCTCACTAATCCCTCACTCCCTCACCCCCTCACGCCC TCACTCACCCTTCACCTCCTCACTCACCCCCTCACCCCCTCAACCCCTTA CTTACCCCCTCATTCATCCCTTCACCCCTCACTCACCCCGTCTCTCACCC ATTCACCCCCTCACTCATGCCTTCACCCCCTCACTCTCCTCCTCACTCCC CCCTTCACCCCTCAGTCACCCCCTCACTCACCCCTTCACCCCCTCAATCA TGCCTTCACTCCCTCACTCACCCCTTCACCCTCTGAATCACTCCCTCATC CCCTCACCCACCCCTCACCCACCCCCTCACTCACCCCCTCACCTCCTTAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(871): Show ATATTATATATACATTATATATATATATATTATATATACATTATATATAT ATATATTATATATACATTATATATATATATATTATATATACATTATATAT ATATATTATATATACATTATATATATATATTATATATACATTATATATAT ATTATATATACATTATATATACATTATATATATATTATATATACATTATA TATATATTATATATACATTATATATATATTATATATACATTATATATATA TTATATATACATTATATATATATATTATATATACATTATATATATATATT ATATATACATTATATATATATTATATATACATTATATATATATTATATAT ACATTATATATATATTATATATACATTATATATATTATATATACATTATA TATTATATATACATTATATATACATTATATATACATTATATATACATTAT ATATACATTATATATACATTATATATACATTATATATACATTATATATAT ATTATATATACATTATATATATATTATATATACATTATATATATATTATA TATACATTATATATATATTATATATACATTATATATATATATTATATATA CATTATATATATATATTATATATACATTATATATATATTATATATACATT ATATATATATTATATATACATTATATATATATATTATATATACATTATAT ATATATTATATATACATTATATATATATATTATATATACATTATATATAT ATATTATATATACATTATATATATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	224	0.0045	878	c.102 others(897): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATATATATAATGTATATATAA TATATATATATAATGTATATATAATATATATATATAATGTATATATAATA TATATATAATGTATATATAATATATATATATAATGTATATATAATATATA TATAATGTATATATAATATATATATAATGTATATATAATATATATATATA ATGTATATATAATATATATATATAATGTATATATAATATATATATAATGT ATATATAATATATATATAATGTATATATAATATATATATAATGTATATAT AATATATATATAATGTATATATAATGTATATATAATGTATATATAATGTA TATATAATGTATATATAATGTATATATAATGTATATATAATGTATATATA ATATATAATGTATATATAATATATATAATGTATATATAATATATATATAA TGTATATATAATATATATATAATGTATATATAATATATATATAATGTATA TATAATATATATATATAATGTATATATAATATATATATATAATGTATATA TAATATATATATAATGTATATATAATATATATATAATGTATATATAATAT ATATATAATGTATATATAATATATATATAATGTATATATAATGTATATAT AATATATATATAATGTATATATAATATATATATATAATGTATATATAATA TATATATATAATGTATATATAATATATATATATATAATGTATATATAATA TATATATATATAATGTATATATAATATATATATATATAATGTATATATAA TA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TRAF6_chr11_36478769_36515272	36507129	C C	CATACGTA others(871): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTAT ACATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAA TGTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGT ATATATACATGTATTATACATACGTAAATGTATATATGTATATATACATG TATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATA CGTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTAT AATGTATATATACATGTATTATACATACGTAAATGTATAATGTATATATA CATTATACATACGTAAATGTATAATGTATAATGTATATATACATTATACA TACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAAT GTATATATACATTATACATACGTAAATGTATAATGTATATATACATTATA CATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATA TATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19240.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	388	0.0052	878	c.-23 others(895): Show c.-23+2918_-23+2919insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTATACATTTACGTATGTATAAT GTATATATACATTATACATTTACGTATGTATAATACATGTATATATACAT TATACATTTACGTATGTATAATACATGTATATATACATATATACATTTAC GTATGTATAATACATGTATATATACATATATACATTTACGTATGTATAAT ACATGTATATATACATATATACATTTACGTATGTATAATACATGTATATA TACATATATACATTTACGTATGTATAATACATGTATATATACATATATAC ATTTACGTATGTATAATACATGTATATATACATATATACATTTACGTATG TATAATACATGTATATATACATATATACATTTACGTATGTATAATACATG TATATATACATATATACATTTACGTATGTATAATACATGTATATATACAT ATATACATTTACGTATGTATAATACATGTATATATACATATATACATTTA CGTATGTATAATACATGTATATATACATATATACATTTACGTATGTATAA TACATGTATATATACATATATACATTTACGTATGTATAATACATGTATAT ATACATATATACATTTACGTATGTATAATACATGTATATATACATATATA CATTTACGTATGTATAATACATGTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507207	C C	CATACGTA others(871): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTAT ACATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAA TGTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGT ATATATACATGTATTATACATACGTAAATGTATATATGTATATATACATG TATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATA CGTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTAT AATGTATATATACATGTATTATACATACGTAAATGTATAATGTATATATA CATTATACATACGTAAATGTATAATGTATAATGTATATATACATTATACA TACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAAT GTATATATACATTATACATACGTAAATGTATAATGTATATATACATTATA CATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATA TATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	388	0.0026	878	c.-23 others(895): Show c.-23+2840_-23+2841insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTATACATTTACGTATGTATAAT GTATATATACATTATACATTTACGTATGTATAATACATGTATATATACAT TATACATTTACGTATGTATAATACATGTATATATACATATATACATTTAC GTATGTATAATACATGTATATATACATATATACATTTACGTATGTATAAT ACATGTATATATACATATATACATTTACGTATGTATAATACATGTATATA TACATATATACATTTACGTATGTATAATACATGTATATATACATATATAC ATTTACGTATGTATAATACATGTATATATACATATATACATTTACGTATG TATAATACATGTATATATACATATATACATTTACGTATGTATAATACATG TATATATACATATATACATTTACGTATGTATAATACATGTATATATACAT ATATACATTTACGTATGTATAATACATGTATATATACATATATACATTTA CGTATGTATAATACATGTATATATACATATATACATTTACGTATGTATAA TACATGTATATATACATATATACATTTACGTATGTATAATACATGTATAT ATACATATATACATTTACGTATGTATAATACATGTATATATACATATATA CATTTACGTATGTATAATACATGTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
USP2_chr11_119350215_119386690	119351503	C C	CCCTCCCC others(871): Show CCCTCCCCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTC TCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCTCCCCTCCCCTCCTCTCT CCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCC CTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTC CTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTC CGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTC CTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTC CCCTCCCCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTC TCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCC TCCGCTCCTCTCCCCTCCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCC TCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCC TCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCT TCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCC TCCCCTCTCCTCCACTCCTCTCCCCTCTCCTCCACTCCTCTCCCTCCCCT CCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCT CTCCTCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCACG GCTCCCCTCCCCTCCTTTCTCCTCCCTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	202	0.0050	878	c.53 others(889): Show c.5331_*5332insCAAGGGAGGAGAAAGGAGGGGAGGGGAGCCGTGG GAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGAGGAGAGGGG AGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGAGAGGAGGGG AGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGA GCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGGAG GAGAGAGGAGGGGAGGAGAGGGGAAGGGGAGGGGAGAGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGA GAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGG GAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCG GAGGAGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGAGAG AGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGGGAG GAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGAGGGGAGGGGAGG AGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGA GGAGGGGAGGGGAGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAGGGGAGG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3711		chr11	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(871): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCGCTCCCCT CTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCCCCT CCCTTCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTC CCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCT TCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCTC TCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCCCC TCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTC TCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCC TCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTCC TCCACTCCTCTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCC TCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCC TCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCC TCCCCTCCTTTCTCCTCCCTTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	202	0.0050	878	c.53 others(889): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGAAGGGAGGGG AGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGGG AGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGG GGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGG GGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGG GGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGG AGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGG AGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
YBEY_chr21_46281342_46302751	46293222	G G	GCAAGTTA others(871): Show GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAG ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTC AGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAAC TCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGG ACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	404	0.0025	878	c.339 others(895): Show c.339+1767_339+1768insGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACA GCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGC CACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(871): Show TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCC CCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCC CTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTT CCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCCTTTTCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCT TCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTT CCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCC CCCCTTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0111 a0001c0001t0007g0111	1	246	0.0041	878	c.-10 others(895): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCT CTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTTCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCTTCC CCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCC CCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCC CTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ABR_chr17_998519_1184981	1052419	G G	GGGGCTGG others(872): Show GGGGCTGGGGGACGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCT GGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGAG GGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCA CAGGGTCAGAGGGAGGGTTCCGGAACGGGCTGGGGGAGGGCTCACAGGGT CAGAGGGAGGGTTCCGGGAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGG GAGGGTTCCGGAAGGGGCTGGGGGACGGCTCACAGGGTCAGAGGGAGGGT TCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGA AGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGC TGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGG AGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGCT CACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGG GTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGA GGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGG GTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCG GAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGGGAGGGTTCCGGAACGG GCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGG GGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGG GTCACAGGGTCAGAGGGAGGGTTCCGGAAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03130.hp2 HG03209.hp1 others(2): Show HG02486.hp2 HG03130.hp2 HG03209.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0008 a0001c0002t0011 others(2): Show a0001c0001t0001 a0001c0002t0008 a0001c0002t0011 a0001c0002t0092 a0001c0004t0024	a0001c0001t0001g0226 a0001c0002t0008g0037 a0001c0002t0011g0228 others(2): Show a0001c0001t0001g0226 a0001c0002t0008g0037 a0001c0002t0011g0228 a0001c0002t0092g0336 a0001c0004t0024g0041	5	337	0.0148	879	c.156 others(898): Show c.1562-1786_1562-1785insGTTCCGGAACCCTCCCTCTGACCCTG TGACCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCC CTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTCCCC CAGCCCGTTCCGGAACCCTCCCTCTGACCCTGTGACCCCTCCCCCAGCCC CTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTCCCCCAGCCCCTTCCG GAACCCTCCCTCTGACCCTGTGAACCCTCCCCCAGCCCCTTCCGGAACCC TCCCTCTGACCCTGTGAACCCTCCCCCAGCCCCTTCCGGAACCCTCCCTC TGACCCTGTGAACCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCC TGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAA CCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTCC CCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAACCCTCCCCCAGC CCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTCCCCCAGCCCCTTC CGGAACCCTCCCTCTGACCCTGTGAGCCGTCCCCCAGCCCCTTCCGGAAC CCTCCCTCTGACCCTGTGAGCCCTCCCCCAGCCCCTCCCGGAACCCTCCC TCTGACCCTGTGAGCCCTCCCCCAGCCCGTTCCGGAACCCTCCCTCTGAC CCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTG AGCCCTCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTC CCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCGTCCCCCAG CCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ARSF_chrX_3036471_3117727	3037056	T T	TTATATAT others(872): Show TTATATATAATATTATATATAATATATATTATATATATAAAATATTATAT ATAATATTATATATAATATATATAATATATATATTATATATAAAATATAT ATAATATATATATTATATATATTATATATAAAATATATATAATATATATA TTATATATATTATATATAAAATATATATAATATATATAATATATATATTA TATATAAAATATATATAATATATATATTATATATAAAATATATATAATAT ATATAATATATATATTATATATAAAATATATATAATATATATATTATATA TAAAATATATATAATATATATAATATATATATTATATATAAAATATATAT AATATATATATTATATATAAAATATATATAATATATATAATATATATATT ATATATAAAATATATATAATATATATAATATATATAAAATATATATAATA TATATAATATATATATTATATATAAAATATATATAATATATATAATATAT ATAAAATATATATAATATATATAATATATATATTATATATAAAATATATA TAATATATATAATATATATATTATATATAAAATATATATAATATATATAA TATATATAAAATATATATAATATATATAATATATATAATATATATAAAAT ATATATCATATATATAATATATATATTATATATAAAATATATATCATATA TATAATATATATATTATATATAAAATATATATCATATATATAATATATAT ATTATATATAAAATATATATCATATATATAATATATATATTATATATAAA ATATATATCATATATATAATATATATATTATATATAAAATATATATAATA TATATAATATTATATATAAAATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	193	0.0052	879	c.-46 others(890): Show c.-4636_-4635insTATATATAATATTATATATAATATATATTATATA TATAAAATATTATATATAATATTATATATAATATATATAATATATATATT ATATATAAAATATATATAATATATATATTATATATATTATATATAAAATA TATATAATATATATATTATATATATTATATATAAAATATATATAATATAT ATAATATATATATTATATATAAAATATATATAATATATATATTATATATA AAATATATATAATATATATAATATATATATTATATATAAAATATATATAA TATATATATTATATATAAAATATATATAATATATATAATATATATATTAT ATATAAAATATATATAATATATATATTATATATAAAATATATATAATATA TATAATATATATATTATATATAAAATATATATAATATATATAATATATAT AAAATATATATAATATATATAATATATATATTATATATAAAATATATATA ATATATATAATATATATAAAATATATATAATATATATAATATATATATTA TATATAAAATATATATAATATATATAATATATATATTATATATAAAATAT ATATAATATATATAATATATATAAAATATATATAATATATATAATATATA TAATATATATAAAATATATATCATATATATAATATATATATTATATATAA AATATATATCATATATATAATATATATATTATATATAAAATATATATCAT ATATATAATATATATATTATATATAAAATATATATCATATATATAATATA TATATTATATATAAAATATATATCATATATATAATATATATATTATATAT AAAATATATATAATATATATAATATTATATATAAAATATATATAA	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4414		chrX	TogoVar
ARSH_chrX_3001546_3039111	3037056	T T	TTATATAT others(872): Show TTATATATAATATTATATATAATATATATTATATATATAAAATATTATAT ATAATATTATATATAATATATATAATATATATATTATATATAAAATATAT ATAATATATATATTATATATATTATATATAAAATATATATAATATATATA TTATATATATTATATATAAAATATATATAATATATATAATATATATATTA TATATAAAATATATATAATATATATATTATATATAAAATATATATAATAT ATATAATATATATATTATATATAAAATATATATAATATATATATTATATA TAAAATATATATAATATATATAATATATATATTATATATAAAATATATAT AATATATATATTATATATAAAATATATATAATATATATAATATATATATT ATATATAAAATATATATAATATATATAATATATATAAAATATATATAATA TATATAATATATATATTATATATAAAATATATATAATATATATAATATAT ATAAAATATATATAATATATATAATATATATATTATATATAAAATATATA TAATATATATAATATATATATTATATATAAAATATATATAATATATATAA TATATATAAAATATATATAATATATATAATATATATAATATATATAAAAT ATATATCATATATATAATATATATATTATATATAAAATATATATCATATA TATAATATATATATTATATATAAAATATATATCATATATATAATATATAT ATTATATATAAAATATATATCATATATATAATATATATATTATATATAAA ATATATATCATATATATAATATATATATTATATATAAAATATATATAATA TATATAATATTATATATAAAATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0208 a0001c0002t0002g0208	1	248	0.0040	879	c.36 others(890): Show c.3671_*3672insTATATATAATATTATATATAATATATATTATATA TATAAAATATTATATATAATATTATATATAATATATATAATATATATATT ATATATAAAATATATATAATATATATATTATATATATTATATATAAAATA TATATAATATATATATTATATATATTATATATAAAATATATATAATATAT ATAATATATATATTATATATAAAATATATATAATATATATATTATATATA AAATATATATAATATATATAATATATATATTATATATAAAATATATATAA TATATATATTATATATAAAATATATATAATATATATAATATATATATTAT ATATAAAATATATATAATATATATATTATATATAAAATATATATAATATA TATAATATATATATTATATATAAAATATATATAATATATATAATATATAT AAAATATATATAATATATATAATATATATATTATATATAAAATATATATA ATATATATAATATATATAAAATATATATAATATATATAATATATATATTA TATATAAAATATATATAATATATATAATATATATATTATATATAAAATAT ATATAATATATATAATATATATAAAATATATATAATATATATAATATATA TAATATATATAAAATATATATCATATATATAATATATATATTATATATAA AATATATATCATATATATAATATATATATTATATATAAAATATATATCAT ATATATAATATATATATTATATATAAAATATATATCATATATATAATATA TATATTATATATAAAATATATATCATATATATAATATATATATTATATAT AAAATATATATAATATATATAATATTATATATAAAATATATATAA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2946		chrX	TogoVar
B4GALNT3_chr12_454939_568509	511307	A A	ACCTTCTT others(872): Show ACCTTCTTCCACCTTCGAGCTTCCACCTTCCGCCTTCTGCCTTCCACCTT CCACCTTCCTTCCACCTTCCACCTTCAACCTTCCGCCTTCCGCCTTCCAC CTTCTGTCTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCCACCTTC TTCCACCTTCCACCTTCCACCTTCTTCCACCTTCTTCCACCTTCCACCTT CCACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTC CACCTTCCGCCTTCGACCTTCTTCCACCTTCCACCTTCCGCCTTCCACCT TCGACCTTCTTCCACCTTCGACCTTCCACCTTCCACCTTCTTCCACCTTC GAGCTTCCACCTTCCGCCTTCCGCCTTCCACCTTCTGTCTTCCACCTTCC TTCCACCTTCCGCCTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCT TCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTC CACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCA CCTTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTC CACCTTCCACCTTCTACCTTCCTTCCACCTTCCACCTTCCACCTTCCACC TTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCACCT TCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTC CACCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCT TCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTC TTCCACCTTCCACCTTCCACCTTCTACCTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp1 HG02572.hp2 others(8): Show HG02109.hp2 HG02486.hp1 HG02572.hp2 HG02818.hp1 HG02895.hp1 HG02970.hp2 HG02976.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 NA19240.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0006 a0007 a0020	a0001c0001 a0003c0004 a0004c0005 others(3): Show a0001c0001 a0003c0004 a0004c0005 a0006c0007 a0007c0008 a0020c0038	a0001c0001t0028 a0001c0001t0055 a0003c0004t0029 others(8): Show a0001c0001t0028 a0001c0001t0055 a0003c0004t0029 a0003c0004t0038 a0003c0004t0064 a0004c0005t0017 a0006c0007t0049 a0007c0008t0002 a0007c0008t0017 a0007c0008t0068 a0020c0038t0031	a0001c0001t0028g0208 a0001c0001t0055g0181 a0003c0004t0029g0182 others(8): Show a0001c0001t0028g0208 a0001c0001t0055g0181 a0003c0004t0029g0182 a0003c0004t0038g0148 a0003c0004t0064g0286 a0004c0005t0017g0196 a0006c0007t0049g0226 a0007c0008t0002g0307 a0007c0008t0017g0147 a0007c0008t0068g0308 a0020c0038t0031g0200	11	394	0.0279	879	c.170 others(898): Show c.170-23854_170-23853insTTCCACCTTCGAGCTTCCACCTTCCG CCTTCTGCCTTCCACCTTCCACCTTCCTTCCACCTTCCACCTTCAACCTT CCGCCTTCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCAC CTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCT TCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTC TACCTTCCTTCCACCTTCCACCTTCCGCCTTCGACCTTCTTCCACCTTCC ACCTTCCGCCTTCCACCTTCGACCTTCTTCCACCTTCGACCTTCCACCTT CCACCTTCTTCCACCTTCGAGCTTCCACCTTCCGCCTTCCGCCTTCCACC TTCTGTCTTCCACCTTCCTTCCACCTTCCGCCTTCCACCTTCCTTCCACC TTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTT CCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCC ACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTT CCACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTC CACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTACCT TCCTTCCACCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTT CCACCTTCTTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTTCTTCC ACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCAC CTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCC TTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
CMIP_chr16_81439808_81716762	81577154	C C	CATTACCA others(872): Show CATTACCACTACATTATTATCACTATCACCATCACCATCATCACCATCAT AACCATCACCTTTATCACCACCATCATCCCCATTACCACTACATTATTAT CACTATCACCATCACCACCATCATCACCATCACCTTCATCACCACCATCA TCCCCATTACCACTACATTATTATCACTATCACCATCACCATCATCACCA TCACCACCATCATAACCATCACCTTCATCACCACCATCATCCCCATTACC ACTACATTATTATCACTATCACCATCACCATCATCACCATCACCTTCATC ACCACCATCATCCCCATTACAACTATATTATTATCACTATCACCATCATC ACCATCACCTTCATCACCACCATCATCCCCATTACCACTACATTATTATC ACTATCACCATCACCACCATCATCACCATCACCTTCATCACCACCATCAT CCCCATTACCACTACATTATTATCACTATCACCATCACCATCATCACCAT CACCTTCATCATCACCGTCATCCCCATTACCACTACGCTATTATCACTAT CACCATCACCATCATCACCATCACCTTCATCATCACCATCATCCCCATTA CCACTACGCTATTATCACTGTCACCATCACCATCATCACCATCACCTTCA TCATCACCATCATCCCCATTACCACTACGCTATTATCACTGTCACCATCA CCATCATCACCATCACCTTCATCACCACCATCATCCCCATTACCACTACA TTATTATCACTATCACCATCACCATCATCACCATCACCTTCATCACCACC ATCATCCCCATTACCACTACTTTATTATCACTATCACCATCACCATCATC ACCATCACCTTCATCACCACCATCATCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00438.hp1 others(46): Show HG00099.hp1 HG00099.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01928.hp1 HG02027.hp1 HG02257.hp2 HG02293.hp1 HG02523.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18947.hp2 NA18953.hp1 NA18995.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0026 a0001c0001t0028 a0001c0001t0035 a0001c0001t0041 a0001c0001t0048 a0001c0001t0050 a0001c0006t0001	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0033 others(46): Show a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0109 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0232 a0001c0001t0003g0089 a0001c0001t0003g0094 a0001c0001t0003g0098 a0001c0001t0005g0023 a0001c0001t0005g0036 a0001c0001t0005g0045 a0001c0001t0005g0054 a0001c0001t0005g0096 a0001c0001t0007g0226 a0001c0001t0010g0257 a0001c0001t0011g0031 a0001c0001t0012g0055 a0001c0001t0012g0135 a0001c0001t0014g0061 a0001c0001t0014g0128 a0001c0001t0016g0236 a0001c0001t0026g0113 a0001c0001t0028g0083 a0001c0001t0035g0064 a0001c0001t0041g0220 a0001c0001t0048g0074 a0001c0001t0050g0082 a0001c0006t0001g0065	49	268	0.1828	879	c.301 others(898): Show c.301-30130_301-30129insCACCATCACCTTCATCACCACCATCA TCCCCATTACAACTATATTATTATCACTATCACCATCATCACCATCACCT TCATCACCACCATCATCCCCATTACCACTACATTATTATCACTATCACCA TCACCACCATCATCACCATCACCTTCATCACCACCATCATCCCCATTACC ACTACATTATTATCACTATCACCATCACCATCATCACCATCACCTTCATC ATCACCGTCATCCCCATTACCACTACGCTATTATCACTATCACCATCACC ATCATCACCATCACCTTCATCATCACCATCATCCCCATTACCACTACGCT ATTATCACTGTCACCATCACCATCATCACCATCACCTTCATCATCACCAT CATCCCCATTACCACTACGCTATTATCACTGTCACCATCACCATCATCAC CATCACCTTCATCACCACCATCATCCCCATTACCACTACATTATTATCAC TATCACCATCACCATCATCACCATCACCTTCATCACCACCATCATCCCCA TTACCACTACTTTATTATCACTATCACCATCACCATCATCACCATCACCT TCATCACCACCATCATCCCAATTACCACTACATTATTATCACTATCACCA TCACCATCATCACCATCATAACCATCACCTTTATCACCACCATCATCCCC ATTACCACTACATTATTATCACTATCACCATCACCACCATCATCACCATC ACCTTCATCACCACCATCATCCCCATTACCACTACATTATTATCACTATC ACCATCACCATCATCACCATCACCACCATCATAACCATCACCTTCATCAC CACCATCATCCCCATTACCACTACATTATTATCACTATCACCATCACCAT CAT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL4A1_chr13_110143963_110312157	110255704	G G	GGGCAGGC others(872): Show GGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGA AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGA AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGG GAAGGCAGGAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0106 a0002c0106	a0002c0106t0001 a0002c0106t0001	a0002c0106t0001g0242 a0002c0106t0001g0242	1	344	0.0029	879	c.85- others(896): Show c.85-12971_85-12970insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT TCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCC TTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGC C	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
DCDC2C_chr2_3698575_3853008	3725467	C C	CGGTGGAT others(872): Show CGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGA TCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCAGGTGGATCCCAG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAG ACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGC AGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGA GGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGC CAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTG GATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCC AGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGA AGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGA GCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAG AGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGAGAGGGAG GAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCT GCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGG TGGATCCTGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATC CCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAG GGAGATGAGCAGAGAGTGAGGAGGCTGCCA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0258 a0001c0001t0004g0258	1	324	0.0031	879	c.340 others(896): Show c.340-1527_340-1526insTGGAGGGAGACCGCCAGAGTGACGAGGA TGGCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCA GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGA TCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAG ACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGC AGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGA GGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGC CAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTG GATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCC GGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGA AGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGA GCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAG AGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAG GAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGAGAGGGAGGAGGCT GCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGG TGGATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGCTGCCAGGTGGATC C	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DOCK8_chr9_209865_470255	400638	C C	CCACCATC others(872): Show CCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACC ACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTCCACCAC CATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCT TCACCATCACCACCACCACCTCCACCACCACCACCTCCACCATCACCACC ACCACCTCCACCACCATCACCACCACCTCCACCATCACCACCACCTCCAC CACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCACCT CCACCATCACCACCACCACCTCCACCACCACCAGCATCTTCACCATCACC ACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTCCAC CATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCATCACCA CCACCTCCACCATCACCACCTCCTCCACCATCACCACCACCTCCACCACC ACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACCACAACATCCAC CACCACCATCACCACCACCACCACCACCTCCTCCACCATCACCACCTCCT TCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACC ACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCACCTCCAC CACCACCACCTCCACCATCACCACCTCCACCTCCACCATCACCACCACCT CCACCATCACCACCACCACCACCATCACCACCTCCTCCACCATCACCACC TCCTTCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCAGCATCTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0098 a0001c0003t0001g0098	1	256	0.0039	879	c.323 others(898): Show c.3234+1480_3234+1481insTCACCACCACCTCCACCATCACCACC ACCTCCACCACCACCAGCATCTTCACCATCACCACCACCACCTCCACCAC CACCACCTCCACCATCACCACCACCACCTCCACCACCATCACCACCACCT CCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACC ACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTCCACCAC CACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCACCTCCA CCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACC ACCTCCACCATCACCATCACCACCACCTCCACCATCACCACCTCCTCCAC CATCACCACCACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCT TCACCATCACCACAACATCCACCACCACCATCACCACCACCACCACCACC TCCTCCACCATCACCACCTCCTTCACCATCACCACCACCTCCACCATCAC CACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCA CCATCACCACCACCACCTCCACCACCACCACCTCCACCATCACCACCTCC ACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCACCATCAC CACCTCCTCCACCATCACCACCTCCTTCACCATCACCACCACCTCCACCA TCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATC TTCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCAC CACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTCCACCA CCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCTCCT others(872): Show CACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCTCCACCA CCACCAGCTCCACCATCACCACCATCTTCACCATCACCACCACCACCTCC TCCACCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCAC CACAACATCCACCACCACCATCACCACCACCACCACCACCTCCACCACCA CCACCTCCTCCACCATCACCACCAGCTCCACCACCACCACCTCCTCCACC ACCACCACCTCCTCCACCACCACCACCTCCTCCACCACCACCACCACCTC CCCCACTACCAACAGCTCCTTCACCATCAACACAATATCCACCACCACCA TCACCACCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACC ACCACCACCACCACCACCACCACCTCCACCATCACCACCTCCTTCACCAT CACCATCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCA TCACCACCACCTCCACCATCACCACCTCCACCATCACCACCACCTCCACC ATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTC CACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCT CCACCATCACCACCACCTCCACCACCACCACCACCACCACCACCACCACC TCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCATCAC CACCACCTCCACCACCACCACCACCTCCACCACCACCCTCACCACCTTCT CCACCACCACCATCTTCACCATCACCACCATCGCCCTGCCCACCTCTAGC AATATTATCACCTTTCCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0021 a0021	a0021c0147 a0021c0147	a0021c0147t0002 a0021c0147t0002	a0021c0147t0002g0178 a0021c0147t0002g0178	1	256	0.0039	879	c.323 others(898): Show c.3234+1717_3234+1718insCCTCCTCCACCATCACCACCAGCTCC ACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACCACCATCTT CACCATCACCACCACCACCTCCTCCACCACCACCACCACCTCCCCCACTA CCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCATCACCACC ACCACCACCACCTCCACCACCACCACCTCCTCCACCATCACCACCAGCTC CACCACCACCACCTCCTCCACCACCACCACCTCCTCCACCACCACCACCT CCTCCACCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATC AACACAATATCCACCACCACCATCACCACCACCTCCACCACCACCTCCTC CACCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCTCCA CCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCACCACCACC TCCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCTC CACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCA CCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCACCACCACC ACCTCCACCACCACCACCTCCTCCACCATCACCACCACCTCCACCACCAC CACCACCACCACCACCACCACCTCCACCACCAGCACTTCCACCATCACCA CCTCCTTCACCATCACCATCACCACCACCTCCACCACCACCACCACCTCC ACCACCACCCTCACCACCTTCTCCACCACCACCATCTTCACCATCACCAC CATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCA ATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
FCMR_chr1_206898317_206926941	206924611	T T	TGAGTGTG others(872): Show TGAGTGTGTGAGTGTGTGGTGTGTAGTTATGAGTGTGTGTGTTCTCTGTC TAGTGTGTGTGTGGTTATGTGTGTGTGATTGTGTGTGTGGTGTGTGTCCA TGAGTGTGTGTGTGCTCTGTAGAGTGTGTAAGTGTGTGGCGTGTGGCTAT GAGTGTGTGTGTGCACTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTG TGTGTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGT GTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGTGCT CTGTCTAGTGTGTGTGTGGTGTGTGGTTATGTGTGTGTGATTGTGTGTGT GATGTGTGTCCATGAGTGTGTGTGTGCTCCGTGGAGTGTGTGAATGTGTG GTGTGTGGCTATGAGTGTGTGTGAATGTGTGGTGTGTGGCTATGTGTGTG TGCTATGTGTTGTGTGTGGTATGTAGTTATGAGTGTGTGTCACTGCGTGG TGTGTGGCTATGAGTGTGTGTGTGCGCACTCTATGCTCTGTCTAGTGTGT GTGTGGTTGAGTGTGTGAGTGTGTGGTGTGTAGTTATGAGTGTGTGTGTT CTCTGTCTAGTGTGTGTGGTGTGTGGTTATGTGTGTGTGATTGTGTGTGT GGTGTGTGTCCATGAGTGTGTGTGCTCTGTAGAGTGTGTGAGTGTGTGGC GTGTGGCTATGAGTGTGTGTGTGCACTGTGGAGTGTGTGTGTGGTGTGTG GCTATGAGTGTGTGTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTAC GAGTGTGTGTGTGCTGTCTAGTGTGTGTGGTGTGTGGTTATGTGTGTGGT GTGCATCCATGAGTGTGTGTATGCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	380	0.0026	879	c.-27 others(890): Show c.-2758_-2757insCACAGAGCATACACACACTCATGGATGCACACCA CACACATAACCACACACCACACACACTAGACAGCACACACACACTCGTAG CCACACACCACACACACACTCCACAGAGCACACACACACTCATAGCCACA CACCACACACACACTCCACAGTGCACACACACACTCATAGCCACACGCCA CACACTCACACACTCTACAGAGCACACACACTCATGGACACACACCACAC ACACAATCACACACACATAACCACACACCACACACACTAGACAGAGAACA CACACACTCATAACTACACACCACACACTCACACACTCAACCACACACAC ACTAGACAGAGCATAGAGTGCGCACACACACACTCATAGCCACACACCAC GCAGTGACACACACTCATAACTACATACCACACACAACACATAGCACACA CACATAGCCACACACCACACATTCACACACACTCATAGCCACACACCACA CATTCACACACTCCACGGAGCACACACACACTCATGGACACACATCACAC ACACAATCACACACACATAACCACACACCACACACACACTAGACAGAGCA CACACACTCATAGCCACACACCACACACACACTCCACAGAGCACACACAC ACACTCATAGCCACACACCACACACACACTCCACAGAGCACACACACACT CATAGCCACACACCACACACACACTCCACAGTGCACACACACACTCATAG CCACACGCCACACACTTACACACTCTACAGAGCACACACACACTCATGGA CACACACCACACACACAATCACACACACATAACCACACACACACTAGACA GAGAACACACACACTCATAACTACACACCACACACTCACACACTC	FCMR	ENSG00000162894.12	transcript	ENST00000367091.8	protein_coding		2671		chr1	TogoVar
GALR1_chr18_77244848_77282900	77252884	C C	CCACCACC others(872): Show CCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCATCAC CACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCA CCACCACCACCACCACCACCTCCATCACCACCACCACCACCACCACCACC TCCATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCTCC ATCACCACCACCACCACCACCACCACCACCATCACCATCACCACCACCAC CATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCATCACCACCACCACCACCATCACCATCACCACCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCATCAC CATCACCACCACCACCACCACCACCACCACCTCCATCACCACCACCATCA CCACCACCACCACCATCACCATCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCTCCATCACCACCACCACCAC CACCACCATCACCACCACCATCACCACCACCACCATCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCATCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0319 a0001c0001t0016g0319	1	366	0.0027	879	c.666 others(896): Show c.666+1681_666+1682insCCACCACCACCACCATCACCACCATCAC CACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCA CCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ACCATCACCACCACCACCACCACCACCACCTCCATCACCACCACCACCAC CACCACCACCTCCATCACCACCACCACCACCACCACCATCACCACCACCA CCATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCTCCATCACCACCACCACCACCACCACCACCACCATCACCATCA CCACCACCACCATCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCATCACCACCACCACCACCATCACCAT CACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCA CCACCATCACCATCACCACCACCACCACCACCACCACCACCTCCATCACC ACCACCATCACCACCACCACCACCATCACCATCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCTCCATCACCA CCACCACCACCACCACCATCACCACCACCATCACCACCACCACCATCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACC A	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77252992	C C	CCACCACC others(872): Show CCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ACCATCACCACCATCACCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCATCACCACCATCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCATCAC CACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACC ACCATCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCACCA CCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCACCACCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	366	0.0027	879	c.666 others(896): Show c.666+1792_666+1793insTCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCA CCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCATCACCACCATCACC ACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCA CCACCACCACCACCACCACCACCATCACCACCACCATCACCACCACCACC A	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
ICA1_chr7_8108184_8267167	8152562	A A	ACCACCAC others(872): Show ACCACCACCACCACCATCTCCTCCACCACCACTACCACCACCACCATTAT CTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCTTCCACCA CTACCACCATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCC TTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCAC CACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTA TCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAACACCACT ACCCCCACCACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTC CACCACCACTACCACCACCACCACCATTATCTCCTTCATCACCACTACCC CCACCACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAACC ACCATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCATCAC CTCCACCACCACCACCACCACCACCACCATCTCCTTCAACACCACTACCC CCACCACTACCACCATCACCTCCACCACCACCACCATCTCCTTCAACACC ACTACCCCCACCACTACCACCATCACCATCACCTCCACCACCACCACCAT CTCCTTCATCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCA CTACCACCATCTCCTCCACCACCACTACCCCCACCACTATCACCATCACC ATCACCTCCACCACCACCACCATCTCCTTCAACACCACTACCCCCAGCAC TACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTA CCACCACCACTATCACCATCACCATCACCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	274	0.0037	879	c.804 others(896): Show c.804+4553_804+4554insAGGTGATGGTGATGGTGATAGTGGTGGT GGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGG TAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTG ATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGGTGGAGGAGATGGTGGT AGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGATGAAGG AGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTA GTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGGTAGTGGT GGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGTGGTGGTGGTGG AGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATG GTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGT GGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGG TGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGG GTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGT GATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGG TGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATG AAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGT AGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGG AGATAATGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTGGTGGTG G	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(872): Show TAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0115 a0002c0003t0001g0115	1	308	0.0033	879	c.127 others(898): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTT CTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KIRREL3_chr11_126418358_127005770	126632686	G G	GCCACAAG others(872): Show GCCACAAGCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGC AGCCCTGGGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACA TGGGTGAGAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGT AAAGCCTGCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGG GAGATAAAAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCT AATATGCAGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAG AAGAAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAAGGAAGGA ACGGTAGCGGCTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTTATGC AGCTCAGATGCCCACTCCATGACAGGTATGCGACCTGGGCATGCATTCTC TGCAGGGAGACAATTACTGTTGCTGTGTGTGACAGGGTTGATACATCCTG CTGAAGGTAGGCATCTCTGTGTTTCCTTATTTTGTAATCCTTTCAAGCCT TCTGAATCCAGCCTCTGTCTCCAGCTGTCCAGTTCTGGACAAGCCTGCTA CTCAGTGGAACCCCTCGTTTCTACCCCCAGGTGGTCTAGGCACTGAGGCT ACAGAGGGCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCCTCCTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCTTTTTC TTCTTCTTTTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0031 a0001c0009t0031	a0001c0009t0031g0028 a0001c0009t0031g0028	1	114	0.0088	879	c.56- others(896): Show c.56-69775_56-69774insGGAGAGAGAGAGAGAGAGAGAAAAGAAG AAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAACGGTAGCGGCTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTCT GTAGCCTCAGTGCCTAGACCACCTGGGGGTAGAAACGAGGGGTTCCACTG AGTAGCAGGCTTGTCCAGAACTGGACAGCTGGAGACAGAGGCTGGATTCA GAAGGCTTGAAAGGATTACAAAATAAGGAAACACAGAGATGCCTACCTTC AGCAGGATGTATCAACCCTGTCACACACAGCAACAGTAATTGTCTCCCTG CAGAGAATGCATGCCCAGGTCGCATACCTGTCATGGAGTGGGCATCTGAG CTGCATAAGGGCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACC GTTCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTC TTCTTTTCTCTCTCTCTCTCTCTCTCCCCACAAGCCTCCTCCACTGCATA TTAGCCACTGCTGTAACAAGTATACTAATGTCTCCTCATCAATTTTTATC TCCCAATGCCCAGTATGCAGCAACGATATGAACAAGAGTTCAGGCAGGCT TTACAGGATTCCCACCAGGTTGGGTGGGAGGTGCGGACATGCTTCTCACC CATGTTTTCTGGCATTCGCAGTCCCTCACTCAATTGCCCCCTCCCCAGGG CTGCTCTTGGGCAGGACAGAAAAGCAGCTGCACAGGGAAGGAGGCTTGTG G	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(872): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGACGGTGATGATGGGGGT GGGGGGGTGATGACGGTGATGATGGGGGTGGGGGGGTGATGACGGTGATG TGGGGGTGATGACGGTGATGGTGGGGGTGATGACGGTGATGGTGGGGGTG ATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGT GGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTAG GGGTGATGATGGTAGGGGTGATGATGGTAGGGTGGGGGTGATGATGGTGG GGGTGATGATGGTGAGGGTGATGATGGTGGGGGTAATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGGTGA TGACGGTGATGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGATG GTGGGGGTAATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGT GATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGG TGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGG GGGTGGGGGTGATGACGGTGATGGTGGGGGGTGATGACGGTGATGGTGGG GGTGATGACGGTGATGGCGGTGGGGGTGATGATGGTGGGGGTAATGACGG TGGGGGTGGGGGTGATGACGGTGGGGGTGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0070 a0070	a0070c0079 a0070c0079	a0070c0079t0001 a0070c0079t0001	a0070c0079t0001g0053 a0070c0079t0001g0053	1	186	0.0054	879	c.956 others(896): Show c.956+1962_956+1963insCCACCCCCACCGTCATCACCCCCACCCC CACCGTCATTACCCCCACCATCATCACCCCCACCGCCATCACCGTCATCA CCCCCACCATCACCGTCATCACCCCCCACCATCACCGTCATCACCCCCAC CCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCG TCATCACCCCCACCCCCACCGTCATCACCCCCACCATCACCGTCATCACC CCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCC CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATTACCCCC ACCATCATCACCCCCACCGCCATCACCGTCATCACCCCCACCATCACCGT CATCACCCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACC CCCACCCCCACCGTCATTACCCCCACCATCATCACCCTCACCATCATCAC CCCCACCATCATCACCCCCACCCTACCATCATCACCCCTACCATCATCAC CCCTACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCC CCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTC ATCACCCCCACCATCACCGTCATCACCCCCACCATCACCGTCATCACCCC CACATCACCGTCATCACCCCCCCACCCCCATCATCACCGTCATCACCCCC CCACCCCCATCATCACCGTCATCACCCCCAGCCCCACCGTCATCACCCCC ACCATCACCATCATCACCCCCACCCCCACCATCACCACCCCCACCCCCAC C	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATTTAT others(872): Show ATATTTATATATATTTATATATATATTTATATATATATTTATATATATAT TATTTATATATATATTTATATATATTTATATATATTTATATATATTTATA TATATTTATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TATTTATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATATATTTTTATATATATTTATATATATTTTTATATATAGTTATA TATATTTATATATAGTTATATATATTTATGTATAGTTATATATATTTATG TATAGTTATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTA TATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATA TTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATA TATATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGT TATATATATATTTATATATATAGTTATATATTTATATATATTTATATATA TTTATATATATATTTATATATTTATTTATATATATTTATATATGTATTTA TATATATTTATATATATTTATATGTATTTATATATATTTATATATATTTA TATATATATATATAAATATATTTATATATATAAATATAAATATTTATATA TATTTATATATATTTATATATATATTTATGTATATTTATATATATTTATA TATATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	260	0.0039	879	c.125 others(896): Show c.125+9673_125+9674insTTATATATATTTATATATATATTTATAT ATATATTTATATATATATTATTTATATATATATTTATATATATTTATATA TATTTATATATATTTATATATATTTATTTATATATATATTTATATATATT TATATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATTTATATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATTTATATATATATTTATATATATATATTTTTATATATATTTATATATA TTTTTATATATAGTTATATATATTTATATATAGTTATATATATTTATGTA TAGTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATA TATAGTTATGTATAGTTATATATATAGTTATATATATATATTTTTATATA TATAGTTATATATATATATTTTTATATATATAGTTATATATATATATTTT TATATATATAGTTATATATATATATTTTTATATATATAGTTATATATATA TATTTTTATATATATAGTTATATATATATTTATATATATAGTTATATATT TATATATATTTATATATATTTATATATATATTTATATATTTATTTATATA TATTTATATATGTATTTATATATATTTATATATATTTATATGTATTTATA TATATTTATATATATTTATATATATATATATAAATATATTTATATATATA AATATAAATATTTATATATATTTATATATATTTATATATATATTTATGTA TATTTATATATATTTATATATATATTTATGTATATTTATATATGTATTTA T	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LINGO2_chr9_27932617_29218601	28189719	G G	GGGAGGGA others(872): Show GGGAGGGAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGG GAGGAAGGAAGGGAGGGAAGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGG GAAGAAGGAAGGAAGGGAGGGAGGGAGGAGGGAAGGGAGGAAGGAAGGAA GGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAGG GAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAA GGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGG GAAGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAA GGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAAGAAGGAAGGAAGG GAGGGAGGGAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAG GGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGG GAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGA AGAAGGAAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGAAGGAAGGAAGG GAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAG GGAGAAGGAAGGAAGGGAGGGAGGGAGAGGGAGGGAGGGAGGAAAGGAAG GGAGGGAAGCAGGAAGGACGGGAGGGCCGGGCGCGCAGGGAGGGAGGGAG GCTCGGCAGGCAGGGCGGACGGCAGGCAGGCGGGCGGGCCGCAGGCAGGC CGGACGGCCTCCCTGGCAGGACGGCCGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	62	0.0161	879	c.-36 others(900): Show c.-36+105488_-36+105489insGGCCGGCCGTCCTGCCAGGGAGGC CGTCCGGCCTGCCTGCGGCCCGCCCGCCTGCCTGCCGTCCGCCCTGCCTG CCGAGCCTCCCTCCCTCCCTGCGCGCCCGGCCCTCCCGTCCTTCCTGCTT CCCTCCCTTCCTTTCCTCCCTCCCTCCCTCTCCCTCCCTCCCTTCCTTCC TTCTCCCTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCC TCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTT CCTTCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCC TTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTT CCTCCCCTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTCCC TCCCTCCCTTCCTTCCTTCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCTT CCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTCTTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTC CCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTTCC TTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTC CCTCCCTTCCTTCCTTCCTCCCTTCCCTCCTCCCTCCCTCCCTTCCTTCC TTCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTT CCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCTTCCCTCCCTTCC TTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTC CCTCC	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCTCCA others(872): Show CCTCTCCATCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCTCCATCC ACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTCCCACTG CCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGTCCCCTC TCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCCCCTTCC CCTTTCCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCCCCCTC CCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCTTCCCCCTCCTC CTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTCTCCC TCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTTCCCC CTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCCTCCCCC TCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCTCTCCAT CCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTCTCCAT CCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTTCCCCCCTTCCCTCT CCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCCCCACTCT CCTCCCCCACTCCCATCCCCATCTCCCCCTCCCCATCTCCCCCTCCTCCT CTTCCCCTCCCCCTCTCCCCCTCCCCACTCTGCCTCCCCATCTCCCCCTC CTCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCCCTCCCCCTCTCCCC CTCTCCCCCCTTCTCCCCCACCCCTCCCCACTCTCCCTCCCCCTCTCCCC CTCTCCCCCTTCTCCCCCACCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	276	0.0036	879	c.100 others(898): Show c.1005+3273_1005+3274insTCCATCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTC CCCCTTCCCTCTCCCCTTCCCCTTTCCCCCTCTCCCCCTCCCTCTCTCCC ACTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCC TCCCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCC CATCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCT TCCCCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCC TCTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCC CATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCC CCATTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCC CTCTTTCCCCCCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCC CCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCATCCCCATCTCCCCCT CCCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTC TGCCTCCCCATCTCCCCCTCCTCCTCTCCCCCTCCCCACTCTCCCTCCCC CTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCA CTCTCCCTCCCCCTCTCCCCCTCTCCCCCTTCTCCCCCACCCCTCCCCCT CTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94348442	T T	TCTCCCTC others(872): Show TCTCCCTCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCTCCATCCAC CTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTCCCACTGCC TCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGTCCCCTCTC CCTCTCTTCCCTTTCCCTTTTCCCCTTCCCCCTTCCCTCTCCCCTTCCCC TTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCCCCCTCCCT CTCCCCCTTTCCCCTCCCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTC TCCATCCCCCTCCCCATCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCC CCTCCCCCTCCCCTTCCCCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCCC TCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCCTCCCCCT CTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCTCTCCATC CCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTCTCATCC TCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCTTCCCTCTC CCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCCCCACTCTC CTCCCCCACTCCCCTCCCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTC TCCCCCTCCCCACTCTCCCTCCCCCTCTCCCTCCCCCTCTCCCTCCCCCT CTCCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCC TCCCCACTCTCCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCCTTCTCC CCCACCCCTCCCCCTCCCCCTCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0022 a0004c0008t0022	a0004c0008t0022g0168 a0004c0008t0022g0168	1	276	0.0036	879	c.100 others(898): Show c.1005+3279_1005+3280insTCCCTCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCTTTTCCCCTTC CCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCA CTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCCCCCTCTTCCCC CTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCC TCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTC TTCCCCCTCCCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCC CTCTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCC CCATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCC CCCATTCCCCTCCCTCTCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCC CTCTTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCC CCCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCC TCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCT CCCTCCCCCTCTCCCTCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCCTTCTCCCCCACCCCTCCCCACTCTCCCTCCCCCTCTCCCCCT CTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCCTCCCCCTCTCCCCC TCC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(872): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCTCCTCCGCTCCGCTCCCCT CTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCCCCT CCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCT CCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCC TTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCT CTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCCC CTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCT CTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTC CTCCACTCCTCTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTC CTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCC CTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCC CTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0165 a0001c0008t0001g0165	1	318	0.0031	879	c.-49 others(890): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGG GAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGG GAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAG GAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAG GAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAG GAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(872): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCGCTCCCCT CTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCCCCT CCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCT CCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCC TTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCT CTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCCC CTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCT CTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTC CTCCACTCCTCTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTC CTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCC CTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCC CTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG03831.hp2 NA18945.hp2 HG02683.hp1 HG03831.hp2 NA18945.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0009 a0001c0001t0001 a0002c0002t0001 a0002c0002t0009	a0001c0001t0001g0037 a0002c0002t0001g0135 a0002c0002t0009g0138 a0001c0001t0001g0037 a0002c0002t0001g0135 a0002c0002t0009g0138	3	318	0.0094	879	c.-49 others(890): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGG GAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGG GAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAG GAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAG GAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(872): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCTCCCCTCCCCTCCTCTCTCCTCCC CTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCC CTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCC CTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCC TCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCGCTCC CCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCC CCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCTC CCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTC CTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTC CCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTC CTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTC TCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTC TCCTCCACTCCTCTCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCT CCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCC CCTCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCC CTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	318	0.0031	879	c.-49 others(890): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGAGGGGAG GAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGAG AGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGAGAGGAGTGGAGGAGAGG GGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGG GGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGG GGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGC GGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGC GGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGG GAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGAG AGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGAG CGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGA GGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGA GGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGA GGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGA GGAGAGAGGAGGGGAGGGGAGGGAGGAGAGAGGAGGGGAGGGGAGGGGAG GAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(872): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCC CTCCCCTCCCCTCCTCTCTCCTCCCCTCCCTCCTCTCTCCTCCCCTCCCC TCCCCTCCTCTCTCCTCCCCTCCCCTCCCCCTCCTCTCTCCTCCCCTCCC CTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCC CTCCCCTCCCCTCTCCTCCCCTCCCCTCCCTCTCTCTCCTCCGCTCCGCT CCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTC TCCCCTCCTTCCCCTCTCCTCCCCTCCCCTCCCCCCTCTCTCCTCCCCTC CCCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCC TCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGC TCCTCTCCCCTCCCTTCCCCTCTCTCCCCTCCTCTCTCCTCCCCTCCGCT CCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCTCTCCTCCCCTC CTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTC TCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTC TCCTCCACTCCTTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCT CCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCC CCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCACGGCTCCC CTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0125 a0007c0011t0001g0125	1	318	0.0031	879	c.-49 others(890): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGAG GAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGAG AGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAAGGAGTGGAGGAGAGG GGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGG GGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGG GGAGGAGAGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCG GAGGGGAGGAGAGAGGAGGGGAGAGAGGGGAAGGGAGGGGAGAGGAGCGG AGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGG AGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGAGG GGAGGAGAGAGGGGGGAGGGGAGGGGAGGAGAGGGGAAGGAGGGGAGAGG AGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGGAGCG GAGCGGAGGAGAGAGAGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGA GGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGA GGGGAGGAGAGAGGAGGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGG AGGGGAGGAGAGAGGAGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGA GGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGAG GAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MLPH_chr2_237482251_237560322	237543110	G G	GGGGGGAC others(872): Show GGGGGGACAGTGGTGAGGGGACAGTAGTGAGTAGGGGACAGTGGTGAGTT GGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAG TGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGACAGTGGTGA GTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGA GTGGGGACAGTGGTGAGTGGGGGGATGGTGAGTGGGCACGGTGGTGAGTG GGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTG GGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAG TTGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGACAGTGGTGAGTGGACAGTAGTGAGTAGGGGACAGTGGTGAGTTG GGGCACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTG GGGGGATGGTGAGTGGGCACGGTGGTGAGTGGGGACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGG GCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGTGTGGGGG GACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGGGGTACAGTGAGTGGG GACAGTGGTGAGTGGGGACAGTAATGAGTC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	286	0.0035	879	c.153 others(896): Show c.1539+455_1539+456insGACAGTGGTGAGGGGACAGTAGTGAGTA GGGGACAGTGGTGAGTTGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGT TGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGATGGTGAGT GGGCACGGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGG GGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGCAA GTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGGCACAGTGGTGAGTTGGGGGACAGTGGCAAGTGGGCACAGTGGTGA GTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGACAGTAGTGAGTAG GGGACAGTGGTGAGTTGGGGCACAGTGGTGAGTGGGGGGACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGT GGGGACAGTGGTGAGTGGGGGGATGGTGAGTGGGCACGGTGGTGAGTGGG GACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGG GGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGG GGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTG GGGGTACAGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGG G	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(872): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC CGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCACTCACCCCCTACCCCTGCCCCCGGCTCTCACCTCCTACCCCGG CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTAC CCCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCC GCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19065.hp1 NA18959.hp2 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0107 a0001c0002t0001g0108	2	394	0.0051	879	c.-8+ others(892): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCC GGGGTAGGAGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGTGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGG GGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGC CGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGA GCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(872): Show GGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACGGTGCGGGGG GGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGGG GATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGG CAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGA CAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGG GGGTGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGC AGGGACAGTGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAG TGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAAGGACAGTGGGGG GTGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGG CAGGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGCGATGGGCAGGGAC AGTGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACGGTG AGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAG GGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGC AGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGGGCAGGG ACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGG GGGCGATGGGCAGGGACAGTGGGGGGGGGATGGGCAGGGACAGTGGGGGG GGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGC AGGGACAGTGGGGGGTGGGCAGGGACAGTA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0026 a0026	a0026c0070 a0026c0070	a0026c0070t0004 a0026c0070t0004	a0026c0070t0004g0171 a0026c0070t0004g0171	1	324	0.0031	879	c.141 others(896): Show c.141-4415_141-4414insTACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAT CCCCCCCCACTGTCCCTGCCCATCCCCCCCCCACTGTCCCTGCCCATCGC CCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACT GTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCC CCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCC CTCACCGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCCATCCCCCCCA CTGTCCCTGCCCATCGCCCCACTGTCCTTGCCCATCCCCCTCACTGTCCC TGCCCATCCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCC ACCCCCCACTGTCCTTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCC CACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAC CCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCAC TGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCC TGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCA TCCCCCCCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCAT CCCCCCCGCACCGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCC C	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
P2RX5_chr17_3668227_3701155	3686319	G G	GAGAACAG others(872): Show GAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACCCCC AGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACA GCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTC AGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCC CGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGG GACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACA CACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAG CCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGT CCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCC CAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAG AACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGC CCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGG CCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACA GGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCC CCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCT CCCAACGTCCCCCGCCCCCCGCCCAGCCTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	362	0.0028	879	c.981 others(896): Show c.981+1692_981+1693insGAGGCTGGGCGGGGGGCGGGGGACGTTG GGAGGGTCCCTGGGGGCCCAGCTGTGTGTTCTCCTGTTCTGAGGCTGGGC GGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAGCTGTGTGTTCT CCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGG GGCCCAGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGAC GTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCTGAGGCT GGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCG TTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCC TGGGGGCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGG GGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCTGA GGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAGCTG TGTGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGG TCCCTGGGGGCCCAGCTGTGTGTTCTCCTGTTCTGAGGCTGGGCGGGGGG CGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAGCTGTGTGTTCTCCTGTT CTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCA GCTGTGTGTTCTCCTGTTCTCAGGCTGGGAGGGGGACGTTGGGAGGGTCC CTGGGGGTCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGGGC GGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTC T	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(872): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC CGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCACTCACCCCCTACCCCTGCCCCCGGCTCTCACCTCCTACCCCGG CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTAC CCCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCC GCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA19065.hp1 NA18959.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	376	0.0053	879	c.15 others(890): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGTGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGG CCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGA GCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PIGR_chr1_206923522_206951466	206924611	T T	TGAGTGTG others(872): Show TGAGTGTGTGAGTGTGTGGTGTGTAGTTATGAGTGTGTGTGTTCTCTGTC TAGTGTGTGTGTGGTTATGTGTGTGTGATTGTGTGTGTGGTGTGTGTCCA TGAGTGTGTGTGTGCTCTGTAGAGTGTGTAAGTGTGTGGCGTGTGGCTAT GAGTGTGTGTGTGCACTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTG TGTGTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGT GTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGTGCT CTGTCTAGTGTGTGTGTGGTGTGTGGTTATGTGTGTGTGATTGTGTGTGT GATGTGTGTCCATGAGTGTGTGTGTGCTCCGTGGAGTGTGTGAATGTGTG GTGTGTGGCTATGAGTGTGTGTGAATGTGTGGTGTGTGGCTATGTGTGTG TGCTATGTGTTGTGTGTGGTATGTAGTTATGAGTGTGTGTCACTGCGTGG TGTGTGGCTATGAGTGTGTGTGTGCGCACTCTATGCTCTGTCTAGTGTGT GTGTGGTTGAGTGTGTGAGTGTGTGGTGTGTAGTTATGAGTGTGTGTGTT CTCTGTCTAGTGTGTGTGGTGTGTGGTTATGTGTGTGTGATTGTGTGTGT GGTGTGTGTCCATGAGTGTGTGTGCTCTGTAGAGTGTGTGAGTGTGTGGC GTGTGGCTATGAGTGTGTGTGTGCACTGTGGAGTGTGTGTGTGGTGTGTG GCTATGAGTGTGTGTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTAC GAGTGTGTGTGTGCTGTCTAGTGTGTGTGGTGTGTGGTTATGTGTGTGGT GTGCATCCATGAGTGTGTGTATGCTCTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0032 a0003c0005t0032	a0003c0005t0032g0101 a0003c0005t0032g0101	1	402	0.0025	879	c.57 others(890): Show c.5706_*5707insCACAGAGCATACACACACTCATGGATGCACACCA CACACATAACCACACACCACACACACTAGACAGCACACACACACTCGTAG CCACACACCACACACACACTCCACAGAGCACACACACACTCATAGCCACA CACCACACACACACTCCACAGTGCACACACACACTCATAGCCACACGCCA CACACTCACACACTCTACAGAGCACACACACTCATGGACACACACCACAC ACACAATCACACACACATAACCACACACCACACACACTAGACAGAGAACA CACACACTCATAACTACACACCACACACTCACACACTCAACCACACACAC ACTAGACAGAGCATAGAGTGCGCACACACACACTCATAGCCACACACCAC GCAGTGACACACACTCATAACTACATACCACACACAACACATAGCACACA CACATAGCCACACACCACACATTCACACACACTCATAGCCACACACCACA CATTCACACACTCCACGGAGCACACACACACTCATGGACACACATCACAC ACACAATCACACACACATAACCACACACCACACACACACTAGACAGAGCA CACACACTCATAGCCACACACCACACACACACTCCACAGAGCACACACAC ACACTCATAGCCACACACCACACACACACTCCACAGAGCACACACACACT CATAGCCACACACCACACACACACTCCACAGTGCACACACACACTCATAG CCACACGCCACACACTTACACACTCTACAGAGCACACACACACTCATGGA CACACACCACACACACAATCACACACACATAACCACACACACACTAGACA GAGAACACACACACTCATAACTACACACCACACACTCACACACTC	PIGR	ENSG00000162896.6	transcript	ENST00000356495.5	protein_coding		3910		chr1	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(872): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGG GGGAGAGAAGGGGAGGGGGAGACAAGGGGGAGAGAAGGGGAGGGGGAGAG GGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGAGAGGGGGAGAGAG GGGGAGGGGGAGAGAGGGGGAGAGAAAGGGAGAGGGGGAGAGGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGGGAGA GGGGGAGAGGTGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGA GAGGGGGAGGAGGGGGGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGA GAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGG AGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGA AGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGA GAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGA GAAAGAGAGGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGG GCGAGAGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGG GTGAGAGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGA GAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGAGAGGGAGAGA GAGGGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGGGA GAGAAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0112 a0009c0013t0001g0112	1	308	0.0033	879	c.371 others(896): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCCC TCTCTCTCCCTCTCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCTCTC ACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTC GCCCTCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTT TCTCTCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTC TCTCACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCC CTTCCCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCT CTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCC TCTCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCCTCCCCC TCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCACCTCTCCC CCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCC TTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCC TTCTCTCCCCCTCTCCCCCTCTCCCTTTCTCTCCCCCTCTCTCCCCCTCC CCCTCTCTCCCCCTCTCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCC CCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTC CCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCC C	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar

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