Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CFAP20DC_chr3_58737008_59055025	58786706	T T	TAAGATAT others(787): Show TAAGATATGCCAAAGAGCGACCCCTCTCCAAGAGGGATCACTCACAGGCA CTGGTTATTGGCTGGGAGCTCAGCCTGGATTGAGAGATAGGAACTTCATT CCTCTCCATGTGGGTCTCTTCATGTAGCCCAGGCTTCCTCACTGCACGGT GGCTGGCTGCTGAGGGAAAGTGACTCAAGGACCGTATTGCCTCTTAAGAC CCAGGCTTGGAAGTTATACAGTGTTGTCTATCACGTGTGTCAGTCTAATG ACACACAAATTAAGGGGAAGGGACATAACCCCCACCTCTTGAGGGTGAGT GGCAAAGTTTTGGAAGAGCATGTGGGATGGGATATATTGTTGTAGTTATT TTTGAAAAATACAATTTGCTACGTCAGGTATGACATTTTATTACATTCTT TAAAATGTGACAATTGTCCTTCCCTTTTTAAGTTACAAACAAAAAGTAAA ACTAAAGAAGTATCGTGATTTTCTTTAGGCAAAAATCAGTCAACTAGTTT GAAAGTCATTAGTGAAAATATGGAGAAATATTAATTCCAGATAATCAGGT TAAAATGGAGACCTAGCATTATTTGGCCAATTAATTGACAGAATGTTACA AGATGCCAAAGACTGGTAGCATCAAATACTGTATTCCAGACTATAATAGG CAGTAAACTGGAAACATAATCTGTAATTCTGTAAATTGAATTATTGTTGA ATGAATTAATTTTTCCGTATCTGTAATATTTTTACCTTATGTAATAAAAA CCATAAATCTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18945.hp2 NA18941.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0144 a0001c0002t0002g0036 a0001c0002t0002g0144	2	204	0.0098	794	c.223 others(815): Show c.2237+19688_2237+19689insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTCCAGATTTATGGTTTTTATTACATAAGGTAAAAATATTACA GATACGGAAAAATTAATTCATTCAACAATAATTCAATTTACAGAATTACA GATTATGTTTCCAGTTTACTGCCTATTATAGTCTGGAATACAGTATTTGA TGCTACCAGTCTTTGGCATCTTGTAACATTCTGTCAATTAATTGGCCAAA TAATGCTAGGTCTCCATTTTAACCTGATTATCTGGAATTAATATTTCTCC ATATTTTCACTAATGACTTTCAAACTAGTTGACTGATTTTTGCCTAAAGA AAATCACGATACTTCTTTAGTTTTACTTTTTGTTTGTAACTTAAAAAGGG AAGGACAATTGTCACATTTTAAAGAATGTAATAAAATGTCATACCTGACG TAGCAAATTGTATTTTTCAAAAATAACTACAACAATATATCCCATCCCAC ATGCTCTTCCAAAACTTTGCCACTCACCCTCAAGAGGTGGGGGTTATGTC CCTTCCCCTTAATTTGTGTGTCATTAGACTGACACACGTGATAGACAACA CTGTATAACTTCCAAGCCTGGGTCTTAAGAGGCAATACGGTCCTTGAGTC ACTTTCCCTCAGCAGCCAGCCACCGTGCAGTGAGGAAGCCTGGGCTACAT GAAGAGACCCACATGGAGAGGAATGAAGTTCCTATCTCTCAATCCAGGCT GAGCTCCCAGCCAATAACCAGTGCCTGTGAGTGATCCCTCTTGGAGAGGG GTCGCTCTTTGGCATATCTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CFAP61_chr20_20047532_20365698	20337583	T T	TGGGTGGG others(787): Show TGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTG GATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATG GATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGG TGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATAGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATG GATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03225.hp2 HG02965.hp2 HG03225.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0003 a0006c0011t0003 a0001c0001t0003 a0006c0011t0003	a0001c0001t0003g0124 a0006c0011t0003g0098 a0001c0001t0003g0124 a0006c0011t0003g0098	2	236	0.0085	794	c.342 others(813): Show c.3423-4247_3423-4246insGGTGGGTGGATGGATGGATGGATGGA TGGATGGATGGATAGATGGGTGGATGGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGG TGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATG GATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHRNA3_chr15_78590309_78625996	78599758	T T	TAATCCTA others(787): Show TAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGG AGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCC ACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACA CCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCC CAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATG TGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAATTAAAA AAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTT GGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGG GCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGC ATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAG AGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCA AGCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAG CCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAA AACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCC GGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGA AACTCAAGAATAGTAAAACTGGCCGGGTGCAGTGGCTCACACCTG	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0062 a0003c0007t0004g0062	1	410	0.0024	794	c.138 others(813): Show c.1389+1494_1389+1495insCAGGTGTGAGCCACTGCACCCGGCCA GTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTATATAAAC TTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGTGGAACTT CAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTAAGTGAGG CTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGATTGGAAGG CCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGCCTGGGCA ACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAAGTGAGGG GATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAG ATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATG GCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTGAGACTGC AATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTTTTGGGAC AGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCGTAGCTCA CTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCAGCCTCCC AAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAATTTTTTTT TTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGTCTCACTGTGTTG CCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTGCCTTGGCC TCCCAAAGTGCTAGGATT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(787): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAATTAAAAAAAGGCT AAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAA ATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAG CGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCC ACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAG GTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATC CTCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACTGT GCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTT CAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCA GCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAA GAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	410	0.0024	794	c.138 others(813): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCGC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGTT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTT TGGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCGT AGCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCAG CCTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAATT TTTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGTCTCACT GTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTGCC TTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(787): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAATTAAAAAAAGGCT AAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAA ATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAG CGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCC ACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAG GTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATC CTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACTGT GCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTT CAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCA GCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAA GAATAGTAAAACTGGCCGGATGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0126 a0001c0005t0005g0126	1	410	0.0024	794	c.138 others(813): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCAT CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGAT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTT TGGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCGT AGCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCAG CCTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAATT TTTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGTCTCACT GTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTGCC TTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(787): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAATTAAAAAAAGGCT AAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAA ATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAG CGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCC ACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAG GTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATC CTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACTGT GCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTT CAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCA GCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAA GAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02451.hp2 HG02615.hp2 others(4): Show HG00099.hp2 HG02451.hp2 HG02615.hp2 HG03453.hp2 NA18522.hp2 NA19043.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0003 a0001c0004t0006 a0001c0001t0001 a0001c0003t0003 a0001c0004t0006	a0001c0001t0001g0204 a0001c0003t0003g0263 a0001c0004t0006g0050 others(2): Show a0001c0001t0001g0204 a0001c0003t0003g0263 a0001c0004t0006g0050 a0001c0004t0006g0051 a0001c0004t0006g0231	7	410	0.0171	794	c.138 others(813): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCGC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGAT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTT TGGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCGT AGCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCAG CCTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAATT TTTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGTCTCACT GTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTGCC TTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(787): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAATTAAAAAAAGGCT AAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAA ATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAG CGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCC ACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAG GTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATC CTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACTGT GCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTT CAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCA GCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAA GAATAGTAAAACTGGCCGGGTGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG00738.hp2 others(31): Show HG00140.hp1 HG00609.hp2 HG00738.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01346.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01978.hp2 HG02027.hp1 HG02486.hp2 HG02698.hp2 HG03209.hp1 HG03239.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG04115.hp1 NA18612.hp1 NA18981.hp1 NA18988.hp2 NA19091.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0001c0008 a0001c0016 others(1): Show a0001c0005 a0001c0008 a0001c0016 a0003c0007	a0001c0005t0004 a0001c0005t0005 a0001c0008t0004 others(3): Show a0001c0005t0004 a0001c0005t0005 a0001c0008t0004 a0001c0016t0004 a0003c0007t0004 a0003c0007t0010	a0001c0005t0004g0002 a0001c0005t0004g0118 a0001c0005t0004g0120 others(18): Show a0001c0005t0004g0002 a0001c0005t0004g0118 a0001c0005t0004g0120 a0001c0005t0004g0121 a0001c0005t0004g0122 a0001c0005t0004g0124 a0001c0005t0004g0125 a0001c0005t0004g0127 a0001c0005t0004g0128 a0001c0005t0004g0129 a0001c0005t0004g0130 a0001c0005t0005g0131 a0001c0005t0005g0132 a0001c0008t0004g0034 a0001c0008t0004g0114 a0001c0008t0004g0115 a0001c0016t0004g0117 a0003c0007t0004g0020 a0003c0007t0004g0060 a0003c0007t0010g0059 a0003c0007t0010g0061	34	410	0.0829	794	c.138 others(813): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCAC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGAT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTT TGGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCGT AGCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCAG CCTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAATT TTTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGTCTCACT GTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTGCC TTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(787): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGAGACTGTCCCAAAAAAAAAAAAAAAAATTAAAAAAAGGCT AAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAA ATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAG CGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCC ACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAG GTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATC CTCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACTGT GCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTT CAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCA GCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAA GAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02886.hp2 HG02895.hp1 others(8): Show HG01891.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03486.hp1 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0015 a0001c0006 a0001c0015	a0001c0006t0007 a0001c0006t0014 a0001c0015t0017 a0001c0006t0007 a0001c0006t0014 a0001c0015t0017	a0001c0006t0007g0006 a0001c0006t0007g0053 a0001c0006t0007g0054 others(5): Show a0001c0006t0007g0006 a0001c0006t0007g0053 a0001c0006t0007g0054 a0001c0006t0007g0055 a0001c0006t0007g0056 a0001c0006t0007g0058 a0001c0006t0014g0057 a0001c0015t0017g0133	11	410	0.0268	794	c.138 others(813): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCGC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGTT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTG GGACAGTCTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCGT AGCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCAG CCTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAATT TTTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGTCTCACT GTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTGCC TTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(787): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCACCCCACCCACCGA CCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGT AGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGA GTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGAT GACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAATTAAAAAAAGGCT AAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAA ATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAG CGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCC ACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAG GTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATC CTCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACTGT GCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTT CAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCA GCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAA GAATAGTAAAACTGGCCGGGTGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA18956.hp1 NA19090.hp2 HG01192.hp1 NA18956.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0027 a0002c0002t0002g0073 a0002c0002t0002g0027 a0002c0002t0002g0073	3	410	0.0073	794	c.138 others(813): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCAC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGTT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTT GGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCGTA GCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCAGC CTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAATTT TTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGGTCTCACT GTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTGCC TTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(787): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCACCCCACCCACCGA CCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGT AGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGA GTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGAT GACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAATTAAAAAAAGGCTA AAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTTGGTAGAA ATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAG CGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCC ACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAG GTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATC CTCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACTGT GCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTT CAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCA GCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAA GAATAGTAAAACTGGCCGGGTGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0086 a0002c0002t0002g0086	1	410	0.0024	794	c.138 others(813): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCAC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGTT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAAATAAAAAAATAAAAGT GAGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTT GGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCGTA GCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCAGC CTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAATTT TTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGGTCTCACT GTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTGCC TTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(787): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCCACCCCACCCACCG ACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTG TAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGG AGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGA TGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAATTAAAAAAAGGCT AAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAA ATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAG CGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCC ACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAG GTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATC CTCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACTGT GCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTT CAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCA GCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAA GAATAGTAAAACTGGCCGGGTGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0112 a0001c0001t0012g0112	1	410	0.0024	794	c.138 others(813): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCAC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGTT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTG GGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCGTAG CTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCAGCC TCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAATTTT TTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGGGTCTCACT GTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTGCC TTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(787): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCCCACCCCACCCACC GACCTCTTCAAATTAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTG TAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGG AGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGA TGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAATTAAAAAAAGGC TAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGA AATAGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAG CGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCC ACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAG GTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATC CTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACTGT GCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTT CAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCA GCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAA GAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0248 a0001c0003t0023g0248	1	410	0.0024	794	c.138 others(813): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCGC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGAT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTGA GACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTTG GGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCGTAG CTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCAGCC TCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAATTTT TTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGGGGTCTCACT GTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTGCC TTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(787): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAATTAAAAAAAGGCT AAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAA ATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAG CGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCC ACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAG GTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATC CTCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACTGT GCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTT CAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCA GCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAA GAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	382	0.0026	794	c.65 others(805): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC ACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGG TGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATC GCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGC ACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAA AATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTA TTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGA ACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGA TTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTAT CTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCC TGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAAACTGCTGGGATTACA GGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCT GGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAA ACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCAT TTATATGAAACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACAC CTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(787): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAATTAAAAAAAGGCT AAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAA ATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAG CGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCC ACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAG GTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATC CTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACTGT GCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTT CAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCA GCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAA GAATAGTAAAACTGGCCGGATGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0152 a0001c0001t0016g0152	1	382	0.0026	794	c.65 others(805): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC ACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGG TGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATC GCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGC ACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAA AATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTA TTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGA ACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGA TTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTAT CTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCC TGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACA GGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCT GGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAA ACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCAT TTATATGAAACTCAAGAATAGTAAAACTGGCCGGATGCAGTGGCTCACAC CTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(787): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAATTAAAAAAAGGCT AAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAA ATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAG CGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCC ACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAG GTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATC CTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACTGT GCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTT CAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCA GCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAA GAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG03453.hp2 NA18522.hp2 others(2): Show HG00099.hp2 HG03453.hp2 NA18522.hp2 NA19043.hp1 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0003 a0001c0001t0001 a0001c0001t0005 a0002c0002t0003	a0001c0001t0001g0236 a0001c0001t0005g0001 a0001c0001t0005g0034 others(1): Show a0001c0001t0001g0236 a0001c0001t0005g0001 a0001c0001t0005g0034 a0002c0002t0003g0196	5	382	0.0131	794	c.65 others(805): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC ACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGG TGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATC GCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGC ACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAA AATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTA TTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGA ACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGA TTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTAT CTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCC TGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACA GGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCT GGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAA ACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCAT TTATATGAAACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACAC CTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(787): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAATTAAAAAAAGGCT AAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAA ATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAG CGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCC ACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAG GTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATC CTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACTGT GCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTT CAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCA GCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAA GAATAGTAAAACTGGCCGGGTGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG00738.hp2 others(29): Show HG00140.hp1 HG00609.hp2 HG00738.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01978.hp2 HG02027.hp2 HG02486.hp2 HG02698.hp2 HG03209.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG04115.hp2 NA18612.hp2 NA18981.hp1 NA19091.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0003c0003 a0004c0005 others(1): Show a0001c0001 a0003c0003 a0004c0005 a0006c0010	a0001c0001t0016 a0001c0001t0031 a0003c0003t0004 others(3): Show a0001c0001t0016 a0001c0001t0031 a0003c0003t0004 a0003c0003t0020 a0004c0005t0004 a0006c0010t0004	a0001c0001t0016g0151 a0001c0001t0031g0210 a0003c0003t0004g0002 others(23): Show a0001c0001t0016g0151 a0001c0001t0031g0210 a0003c0003t0004g0002 a0003c0003t0004g0028 a0003c0003t0004g0030 a0003c0003t0004g0140 a0003c0003t0004g0158 a0003c0003t0004g0160 a0003c0003t0004g0161 a0003c0003t0004g0163 a0003c0003t0004g0164 a0003c0003t0004g0165 a0003c0003t0004g0166 a0003c0003t0004g0167 a0003c0003t0004g0168 a0003c0003t0004g0170 a0003c0003t0004g0171 a0003c0003t0004g0172 a0003c0003t0004g0173 a0003c0003t0004g0305 a0003c0003t0004g0306 a0003c0003t0004g0307 a0003c0003t0004g0308 a0003c0003t0020g0063 a0004c0005t0004g0029 a0006c0010t0004g0159	32	382	0.0838	794	c.65 others(805): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC ACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGG TGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATC GCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGC ACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAA AATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTA TTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGA ACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGA TTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTAT CTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCC TGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACA GGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCT GGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAA ACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCAT TTATATGAAACTCAAGAATAGTAAAACTGGCCGGGTGCAGTGGCTCACAC CTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(787): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGAGACTGTCCCAAAAAAAAAAAAAAAAATTAAAAAAAGGCT AAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAA ATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAG CGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCC ACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAG GTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATC CTCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACTGT GCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTT CAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCA GCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAA GAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02886.hp2 HG02965.hp2 others(7): Show HG01891.hp1 HG02886.hp2 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 NA19043.hp2 NA20129.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 others(2): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0032 a0008c0009t0009	a0001c0001t0008g0303 a0001c0001t0009g0296 a0001c0001t0009g0298 others(7): Show a0001c0001t0008g0303 a0001c0001t0009g0296 a0001c0001t0009g0298 a0001c0001t0009g0299 a0001c0001t0009g0301 a0001c0001t0014g0174 a0001c0001t0014g0175 a0001c0001t0014g0176 a0001c0001t0032g0042 a0008c0009t0009g0297	10	382	0.0262	794	c.65 others(805): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC ACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGG TGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATC GCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGC ACTCCAATGTGGATGACAGAGCAAGAGACTGTCCCAAAAAAAAAAAAAAA AATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTA TTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGA ACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGA TTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTAT CTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCC TGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAAACTGCTGGGATTACA GGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCT GGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAA ACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCAT TTATATGAAACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACAC CTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(787): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCACCCCACCCACCGA CCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGT AGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGA GTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGAT GACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAATTAAAAAAAGGCT AAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAA ATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAG CGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCC ACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAG GTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATC CTCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACTGT GCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTT CAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCA GCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAA GAATAGTAAAACTGGCCGGGTGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 NA19090.hp2 HG01192.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0004 a0001c0001t0002g0008	2	382	0.0052	794	c.65 others(805): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC CACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTG GTGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGAT CGCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTG CACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAA AATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTA TTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGA ACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGA TTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTAT CTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCC TGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAAACTGCTGGGATTACA GGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCT GGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAA ACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCAT TTATATGAAACTCAAGAATAGTAAAACTGGCCGGGTGCAGTGGCTCACAC CTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(787): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCACCCCACCCACCGA CCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGT AGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGA GTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGAT GACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAATTAAAAAAAGGCTA AAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTTGGTAGAA ATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAG CGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCC ACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAG GTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATC CTCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACTGT GCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTT CAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCA GCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAA GAATAGTAAAACTGGCCGGGTGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0146 a0001c0001t0006g0146	1	382	0.0026	794	c.65 others(805): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC CACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTG GTGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGAT CGCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTG CACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAA ATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTAT TTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGA ACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGA TTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTAT CTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCC TGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAAACTGCTGGGATTACA GGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCT GGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAA ACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCAT TTATATGAAACTCAAGAATAGTAAAACTGGCCGGGTGCAGTGGCTCACAC CTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CNST_chr1_246561456_246673595	246642837	G G	GGTGGTGG others(787): Show GGTGGTGGTGATGATGATGATGATGGTGATGATGATGATGATGGTGATGA TGATGGTGATGATGGTGATGATGATGGTGATGATGAGGATGATGATGATG GTGATGATGATGGTGATGGTGATGATGACGGTGATGATGGTGATGGTGAT GATGGTGATGATGAGGATGATGATGGTGATGATGATGATGGTGATGATGA GGATGATGATGGTGATGATGATGATGGTGATGATGGTGATGGTGATGATG GTGATGAGGATGATGATGGTGATGATGATGGTGATGATGATGATGGTGGT GATGGTGATGGTGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGATGATGATGATGGTGATGATGATGGTGGTGATG ATGGTGATGGTGATGGTGATGATGGTGATGATGATGATGATGGTGATGAT GGTGGTGATGATGATGGTGATGATGGTGATGGTTATGATGGTGATGGTGA TGATGGTGATGATGAGGATGATGATGGTGATGGTGATGATAAGGATGATG ATGATGAGGATGATGGTGGTGATGATGATGGTGATGACGATGATGGTGAT GATGATGGTGATGACGATGATGGTGATTGTGATGATGGTGATGACGATGA TGAGGATGGTGATGATGGTGATGATGATGGTGAGGATGGTGATGATGATG GTGATGATGAGGATGGTGATGATGGTGATGATGATGGTGATTATGATGAT GGTGATGATGGTGATGATGATGGTGATGATGATGATGGTGATGAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	320	0.0031	794	c.937 others(809): Show c.937+801_937+802insTGGTGGTGATGATGATGATGATGGTGATGA TGATGATGATGGTGATGATGATGGTGATGATGGTGATGATGATGGTGATG ATGAGGATGATGATGATGGTGATGATGATGGTGATGGTGATGATGACGGT GATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGA TGATGATGGTGATGATGAGGATGATGATGGTGATGATGATGATGGTGATG ATGGTGATGGTGATGATGGTGATGAGGATGATGATGGTGATGATGATGGT GATGATGATGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGATGGTGATGATGATGATGATGGTG ATGATGATGGTGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGAT GATGATGATGGTGATGATGGTGGTGATGATGATGGTGATGATGGTGATGG TTATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGTGATG GTGATGATAAGGATGATGATGATGAGGATGATGGTGGTGATGATGATGGT GATGACGATGATGGTGATGATGATGGTGATGACGATGATGGTGATTGTGA TGATGGTGATGACGATGATGAGGATGGTGATGATGGTGATGATGATGGTG AGGATGGTGATGATGATGGTGATGATGAGGATGGTGATGATGGTGATGAT GATGGTGATTATGATGATGGTGATGATGGTGATGATGATGGTGATGATGA TGATGGTGATGATG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COMMD9_chr11_36267292_36294424	36287093	A A	ACTATGTA others(787): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACATGCTAT GTACATCATATAGTATGTATACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTA TGTATACTACATGCTATGTACATCATATAGTATGTATACTACATG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	448	0.0022	794	c.51+ others(809): Show c.51+2268_51+2269insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTATACA TACTATATGATGTACATAGCATGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACAT ACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAG CATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTA TATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COX6A1_chr12_120433113_120445730	120437284	T T	TTCAGGAG others(787): Show TTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGATTG CAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCCTGGCAACAGAGCA AGATTCCGTTTCAAAAAAAAAAAAAAAAAAAGTTTACTGTCATTTTATGT TATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGCTTTTAGACAAGT CGAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTTGTAGACAAAATT TAACAGAGGTCAATTTTTTTTTTTTTTTTTTTGTCTCCCAGGCTGGAGTG CAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCAGGTTCAAGCGA TTCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGGTGTGCGCCACC ATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTT GGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAGCCAGTCTCGGC ATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTCCCGGCCAGATG TCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCAGTGTGACCAGA GGTCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTCATGCCTGTCATC CCACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTCAAGAGTTT GAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAA AAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02055.hp1 HG02129.hp1 others(8): Show HG02004.hp1 HG02055.hp1 HG02129.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG04184.hp1 NA18961.hp1 NA18975.hp2 NA19083.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010	11	426	0.0258	794	c.-84 others(803): Show c.-843_-842insTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGG GAGGCGGAGATTGCAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCC TGGCAACAGAGCAAGATTCCGTTTCAAAAAAAAAAAAAAAAAAAGTTTAC TGTCATTTTATGTTATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTG CTTTTAGACAAGTCGAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTT TGTAGACAAAATTTAACAGAGGTCAATTTTTTTTTTTTTTTTTTTGTCTC CCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCC CAGGTTCAAGCGATTCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACA GGTGTGCGCCACCATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGG GTTTCACCATGTTGGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATC AGCCAGTCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCAC TCCCGGCCAGATGTCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGC CAGTGTGACCAGAGGTCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCT CATGCCTGTCATCCCACTATTTTGGGAGGCCGAGGCAGACAGATCACCTG AGGTCAAGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCT ACTAAAAATACAAAAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATC CCAGCTAC	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		828		chr12	TogoVar
COX6A1_chr12_120433113_120445730	120437284	T T	TTCAGGAG others(787): Show TTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGATTG CAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCCTGGCAACAGAGCA AGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACTGTCATTTTATGTT ATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGCTTTTAGACAAGTC GAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTTGTAGACAAAATTT AACAGAGGTCAATTTTTTTTTTTTTTTTTTTTGTCTCCCAGGCTGGAGTG CAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCAGGTTCAAGCGA TTCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGGTGTGCGCCACC ATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTT GGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAGCCAGTCTCGGC ATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTCCCGGCCAGATG TCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCAGTGTGACCAGA GGTCAAAAGATGAGAATGTTGGCCGGGTACAGTGGCTCATGCCTGTCATC CCACTATTTTGGGAGGTCGAGGCAGACAGATCACCTGAGGTCAAGAGTTT GAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAA AAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	426	0.0024	794	c.-84 others(803): Show c.-843_-842insTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGG GAGGCGGAGATTGCAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCC TGGCAACAGAGCAAGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACT GTCATTTTATGTTATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGC TTTTAGACAAGTCGAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTT GTAGACAAAATTTAACAGAGGTCAATTTTTTTTTTTTTTTTTTTTGTCTC CCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCC CAGGTTCAAGCGATTCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACA GGTGTGCGCCACCATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGG GTTTCACCATGTTGGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATC AGCCAGTCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCAC TCCCGGCCAGATGTCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGC CAGTGTGACCAGAGGTCAAAAGATGAGAATGTTGGCCGGGTACAGTGGCT CATGCCTGTCATCCCACTATTTTGGGAGGTCGAGGCAGACAGATCACCTG AGGTCAAGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCT ACTAAAAATACAAAAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATC CCAGCTAC	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		828		chr12	TogoVar
COX6A1_chr12_120433113_120445730	120437284	T T	TTCAGGAG others(787): Show TTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGATTG CAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCCTGGCAACAGAGCA AGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACTGTCATTTTATGTT ATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGCTTTTAGACAAGTC GAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTTGTAGACAAAATTT AACAGAGGTCAATTTTTTTTTTTTTTTTTTTTGTCTCCCAGGCTGGAGTG CAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCAGGTTCAAGCGA TTCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGGTGTGCGCCACC ATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTT GGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAGCCAGTCTCGGC ATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTCCCGGCCAGATG TCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCAGTGTGACCAGA GGTCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTCATGCCTGTCATC CCACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTCAAGAGTTT GAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAA AAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01099.hp1 HG01884.hp2 others(14): Show HG00323.hp1 HG01099.hp1 HG01884.hp2 HG02083.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 NA18941.hp2 NA18978.hp2 NA19006.hp1 NA19009.hp2 NA19066.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0002g0042	17	426	0.0399	794	c.-84 others(803): Show c.-843_-842insTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGG GAGGCGGAGATTGCAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCC TGGCAACAGAGCAAGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACT GTCATTTTATGTTATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGC TTTTAGACAAGTCGAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTT GTAGACAAAATTTAACAGAGGTCAATTTTTTTTTTTTTTTTTTTTGTCTC CCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCC CAGGTTCAAGCGATTCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACA GGTGTGCGCCACCATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGG GTTTCACCATGTTGGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATC AGCCAGTCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCAC TCCCGGCCAGATGTCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGC CAGTGTGACCAGAGGTCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCT CATGCCTGTCATCCCACTATTTTGGGAGGCCGAGGCAGACAGATCACCTG AGGTCAAGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCT ACTAAAAATACAAAAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATC CCAGCTAC	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		828		chr12	TogoVar
COX6A1_chr12_120433113_120445730	120437284	T T	TTCAGGAG others(787): Show TTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGATTG CAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCCTGGCAACAGAGCA AGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACTGTCATTTTATGTT ATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGCTTTTAGACAAGTC GAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTTGTAGACAAAATTT AACAGAGGTCAATTTTTTTTTTTTTTTTTTTTGTCTCCCAGGCTGGAGTG CAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCAGGTTCAAGCGA TTCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGGTGTGCGCCACC ATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTT GGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAGCCAGTCTCGGC ATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTCCCGGCCAGATG TCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCAGTGTGACCAGA GGTTAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTCATGCCTGTCATC CCACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTCAAGAGTTT GAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAA AAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	426	0.0024	794	c.-84 others(803): Show c.-843_-842insTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGG GAGGCGGAGATTGCAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCC TGGCAACAGAGCAAGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACT GTCATTTTATGTTATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGC TTTTAGACAAGTCGAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTT GTAGACAAAATTTAACAGAGGTCAATTTTTTTTTTTTTTTTTTTTGTCTC CCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCC CAGGTTCAAGCGATTCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACA GGTGTGCGCCACCATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGG GTTTCACCATGTTGGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATC AGCCAGTCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCAC TCCCGGCCAGATGTCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGC CAGTGTGACCAGAGGTTAAAAGATGAGAATGTTGGCCGGGTACGGTGGCT CATGCCTGTCATCCCACTATTTTGGGAGGCCGAGGCAGACAGATCACCTG AGGTCAAGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCT ACTAAAAATACAAAAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATC CCAGCTAC	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		828		chr12	TogoVar
EHMT1_chr9_137614005_137841127	137716227	A A	ATGGTGGG others(787): Show ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTC ATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGG TGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCGTGGTG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTG TCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	170	0.0059	794	c.86- others(807): Show c.86-379_86-378insTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG TCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCA TGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCGTGGTGGGG GAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCA TGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGG TGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGG GAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
FAM81A_chr15_59433186_59528555	59433245	C C	CAGGCGTT others(787): Show CAGGCGTTCAGGACCAGCCTGACCAACATGGTGAAACCCTGACTCTACTA AAAATTACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTATAATCCCAGC TACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAACCTGGGAGGTGGAGAT TACAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGAGCAACAAGAGC AAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGAAATTGATGCAAAA CATCCATGATTAATAAAAAATGAAAATTTTCAATAAGGACAGGGTCAGTA TTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTTGCTATGGCACTGTAT ACCACAACCTCGTGTGATGGGTATTGTCATTTCTTTTTTGTTGTTGAACA GAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGAACAACTGTCTGATAA TGTATTACTTGACAAAGAAGCCAAAACAAGAGTGTCAGCTTATGTGAGGT TTCATTGTCTAAACTGTGGTGTCATGACTGGCTAATGTAAGGTAGGCCAT GAATGTTTGCTGAACTAGATTGAACCGAGCCAAAGTGGTATCAAACTTCA GAACAGCCTGAAGACTATATATGTGTGTATTTTATATATATATATATATA TATATATATATATATATATATATATATATGTCTATTTCCTGAGAATTGTT GGAAAGAAGAATTGTTTCAAAATCAATGTGAAATAGAATTTTCCATTACT TTTCTTGCCTCTGAACTGGGTTTTGGATAAATCAGTTTTATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	374	0.0027	794	c.-51 others(805): Show c.-5115_-5114insAGGCGTTCAGGACCAGCCTGACCAACATGGTGAA ACCCTGACTCTACTAAAAATTACAAAAATTAGCCAGGTGTGGTGGCACGC GCCTATAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAAC CTGGGAGGTGGAGATTACAGTGAGCCAAGATTGCACCATTGCACTCCAGC CTGAGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAA GAAATTGATGCAAAACATCCATGATTAATAAAAAATGAAAATTTTCAATA AGGACAGGGTCAGTATTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTT GCTATGGCACTGTATACCACAACCTCGTGTGATGGGTATTGTCATTTCTT TTTTGTTGTTGAACAGAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGA ACAACTGTCTGATAATGTATTACTTGACAAAGAAGCCAAAACAAGAGTGT CAGCTTATGTGAGGTTTCATTGTCTAAACTGTGGTGTCATGACTGGCTAA TGTAAGGTAGGCCATGAATGTTTGCTGAACTAGATTGAACCGAGCCAAAG TGGTATCAAACTTCAGAACAGCCTGAAGACTATATATGTGTGTATTTTAT ATATATATATATATATATATATATATATATATATATATATATATGTCTAT TTCCTGAGAATTGTTGGAAAGAAGAATTGTTTCAAAATCAATGTGAAATA GAATTTTCCATTACTTTTCTTGCCTCTGAACTGGGTTTTGGATAAATCAG TTTTATTATA	FAM81A	ENSG00000157470.12	transcript	ENST00000288228.10	protein_coding		4940		chr15	TogoVar
FBRSL1_chr12_132485151_132590188	132556667	G G	GTCCTGTG others(787): Show GTCCTGTGGGACGCTCCTCTCCAGGCCTTCATGCTGCACCCCCCTCCACC CACCCCCCTCCTGTGGGACGCTCCTCTCCAGGCCTTCATGCTGCACCCCA ACCCCTGTCCTGTGGGACGCTCCTCTCCAGGCCTTCGTGCTGCACCCCAA CCCCTGTCCTGTGGGACGCTCCTCTCCAGGCCTTCGTGCTGCACCCCCCT CCACCCACCCCTGTCCTGTGGGACGCTCCTCTCCAGGCCTTCCTGCTGCC CCTGCCACCCACCCCCCTCCTGTGGGACGCTCCTCTCCAGGCCTTCATGC TGCCTCCAACCCCTGTCCTGTGGGACGCTCCTCTCCAGGCCTTCGTGCTG CACCCCCCTCCACCCACCCCCCTCCTGTGGGACGCTCCTCTCCAGGCCTT CATGCTGCCTCCAACCCCTGTCCTGTGGGATGCTCCTCTCCAGGCCTTCG TGCTGCACCCCCCTCCACCCACCCCTGTCCTGTGGGACGCTCCTCTCCAG GCCTTCCTGCTGCCCCTGCCACCCACCCCCCTCCTGTGGGACGCTCCTCT CCAGGCCTTCATGCTGCCTCCAACCCCTGTCCTGTGGGACGCTCCTCTCC AGGCCTTCGTGCTGCACCCCCCTCCACCCACCCCCCTCCTGTGGGACGCT CCTCTCCAGGCCTTCATGCTGCCTCCAACCCCTGTCCTGTGGGATGCTCC TCTCCAGGCCTTCGTGCTGCACCCCCCTCCACCCACCCCTGTCCTGTGGG ACGCTCCTCTCCAGGCCTTCCTGCTGCCCCTGCCACCCACCCCCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02809.hp2 HG02895.hp1 others(4): Show HG02258.hp1 HG02809.hp2 HG02895.hp1 HG02976.hp1 HG03041.hp2 HG03225.hp1 HG03471.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0005 a0006c0008t0007 a0006c0008t0025 a0006c0008t0005 a0006c0008t0007 a0006c0008t0025	a0006c0008t0005g0252 a0006c0008t0007g0151 a0006c0008t0007g0236 others(4): Show a0006c0008t0005g0252 a0006c0008t0007g0151 a0006c0008t0007g0236 a0006c0008t0007g0254 a0006c0008t0007g0255 a0006c0008t0007g0256 a0006c0008t0025g0251	7	348	0.0201	794	c.645 others(811): Show c.645+8671_645+8672insACCCCCCTCCACCCACCCCCCTCCTGTG GGACGCTCCTCTCCAGGCCTTCATGCTGCACCCCAACCCCTGTCCTGTGG GACGCTCCTCTCCAGGCCTTCGTGCTGCACCCCAACCCCTGTCCTGTGGG ACGCTCCTCTCCAGGCCTTCGTGCTGCACCCCCCTCCACCCACCCCTGTC CTGTGGGACGCTCCTCTCCAGGCCTTCCTGCTGCCCCTGCCACCCACCCC CCTCCTGTGGGACGCTCCTCTCCAGGCCTTCATGCTGCCTCCAACCCCTG TCCTGTGGGACGCTCCTCTCCAGGCCTTCGTGCTGCACCCCCCTCCACCC ACCCCCCTCCTGTGGGACGCTCCTCTCCAGGCCTTCATGCTGCCTCCAAC CCCTGTCCTGTGGGATGCTCCTCTCCAGGCCTTCGTGCTGCACCCCCCTC CACCCACCCCTGTCCTGTGGGACGCTCCTCTCCAGGCCTTCCTGCTGCCC CTGCCACCCACCCCCCTCCTGTGGGACGCTCCTCTCCAGGCCTTCATGCT GCCTCCAACCCCTGTCCTGTGGGACGCTCCTCTCCAGGCCTTCGTGCTGC ACCCCCCTCCACCCACCCCCCTCCTGTGGGACGCTCCTCTCCAGGCCTTC ATGCTGCCTCCAACCCCTGTCCTGTGGGATGCTCCTCTCCAGGCCTTCGT GCTGCACCCCCCTCCACCCACCCCTGTCCTGTGGGACGCTCCTCTCCAGG CCTTCCTGCTGCCCCTGCCACCCACCCCCCTCCTGTGGGACGCTCCTCTC CAGGCCTTCATGCTGC	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(787): Show TATATATGAATATATAAATATATATAAATATTATAAATATATAAATAAAA ATATATAAAAATATATACATATATAAATATAAATATATAATATATAAATA TATAAATATATAAATATATAAATATAAATATATAAAAATATATAAATATA TAAAAATATATAAATATATAAATATATATAAATATATATAAATATATAAA TATATAAATATATATAAATATATAAATATATAAATACATAAATATATAAA TATATAAATATATAAATATATAAATATATATAAGTACATATAAATATATA TACATAAATATATAAATATATAAATATATAAATACATAATATATATAAAT ATAAAATATATATAATATATAAAATATATTAAAAATATAAAAATATATAT AAAAAATATATAAATATATAAAAATATATAAAAAATATATACACATATAA ATATATATAAAAATATATAAATATATATAAAAATATATAAATATATATTA TATATAAATATATAATATATAAATATATATAAATATATAAATATATATAA ATATATACAATATATAAATATATATAAATATATACAATATATAAATATAT ATATACAATATATAAATATATATAAATATATACAATATATAAATATATAT AAATATATACAATATATAAATATATATAAATATATACAATATATAAATAT ATATAAATATATATAATATATAAATATATATAAATATATAAATATATATA AATATATATAATATATAAATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	344	0.0029	794	c.617 others(811): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATATTTATATATAATATATATTTATATATTTTTATATATATTTA TATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTAT ATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATA TATTATATATATTTTATATTTATATATATTATGTATTTATATATTTATAT ATTTATATATTTATGTATATATATTTATATGTACTTATATATATTTATAT ATTTATATATTTATATATTTATATATTTATGTATTTATATATTTATATAT TTATATATATTTATATATTTATATATTTATATATATTTATATATATTTAT ATATTTATATATTTTTATATATTTATATATTTTTATATATTTATATTTAT ATATTTATATATTTATATATTTATATATTATATATTTATATTTATATATG TATATATTTTTATATATTTTTATTTATATATTTATAATATTTATATATAT TTATATATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
GALNS_chr16_88808734_88861947	88831675	A A	AGGAGAGC others(787): Show AGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAG GCCGAGCACGGGGTGCGTGGGGGGGAGAGCGGTGAGGCCGAGCACGGGGT GCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGA GCGGTGAGGCGGAGCACGGGGTGCGTGGGGGGGAGAGCGGTGAGGCCGAG CACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCCGAGCACGGGGTGCGTG GGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGT GAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGG GGTGCGTGGGGAGGAGAGCGGTGAGGCGGAGCACGGGGTGCGTGGGGGGG AGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCC CGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGC GTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGTAGGAGAGC GGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCA CGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGG AGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAG GCCGAGCACGGGGTGCGTGGGGGGGAGAGCGGTGAGGCCGAGCACGGGGT GCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	404	0.0025	794	c.100 others(811): Show c.1002+322_1002+323insCCCCCACGCACCCCGTGCTCGGCCTCAC CGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCCCCCCA CGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTC GGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCT CCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACC CCGTGCTCGGCCTCACCGCTCTCCTACCCACGCACCCCGTGCTCGGCCTC ACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCC CACGCACCCCGTGCTCGGGCCTCACCGCTCTCCTCCCCACGCACCCCGTG CTCGGCCTCACCGCTCTCCCCCCCACGCACCCCGTGCTCCGCCTCACCGC TCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGC ACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGC CTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGGCCTCACCGCTCTCC TCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCCCCCCACGCACCCC GTGCTCCGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCAC CGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCCCCCCA CGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTC GGCCTCACCGCTCTCC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GET4_chr7_871554_901436	890279	T T	TGAGCGGG others(787): Show TGAGCGGGTGTTAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTG TTAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGT GGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAG AGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCA GGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCT GGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGG GAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGT GGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGG ACGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGG GAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGG AGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19088.hp2 NA18994.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0143 a0001c0002t0007g0160 a0001c0002t0007g0143 a0001c0002t0007g0160	2	384	0.0052	794	c.467 others(809): Show c.467-639_467-638insTAGGACGGGGCCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTG AGTGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTC AGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTC TGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGA GGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAG CGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAG GACGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGTCTGG GAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGG AGCGTGAGTGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCG GGTGTTAGGACGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	890279	T T	TGAGCGGG others(787): Show TGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTG TTAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGG GTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGGTCTGGGAGT GGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAG AGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCA GGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCT GGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGG GAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGT GGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGG ACGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGG GAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGG AGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18962.hp2 NA18999.hp1 HG00544.hp1 NA18962.hp2 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0141 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0001g0141 a0001c0002t0002g0154 a0001c0002t0002g0155	3	384	0.0078	794	c.467 others(809): Show c.467-639_467-638insTAGGACGGGGTCTGGGAGTGGAGGGAGCGT GAGCGGGTGTTAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTG AGTGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTC AGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTC TGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGA GGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAG CGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAG GACGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGTCTGG GAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGG AGCGTGAGTGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCG GGTGTTAGGACGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(787): Show AGGCTGGGGAGGCTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGG GAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGG AGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGGGGGCTAAGA AGGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGGA GGCTGGGGGGCTGGGGCGCTGGGGAGGCTGGGGAGGCTGGGGGTGCTGGG CAGGCTGAGGAGGTGGGGAGGCTGGGGGAGCAAGGGGTGGGGGAGGTAGG GAGGCTGGGGAGGCTGGGGGCGGGGGAGTCTGGGGAGGCTGGGGGGGTGG GGGGCTAGGAGGTGGGGGAGGCGGGGAGGCTGGGGAGGTGGGGAGGCTGG GGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGGAGGCTGGG GAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGGGGGCTAAGAAGGCTGGG GGGCTGGGGTGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGGAGGCTGGGG GGCTGGGGCGCTGGGGAGGCTGGGGAGGCTGGGGGTGCTGGGCAGGCTGA GGAGGTGGGGAGGCTGGGGGAGCAAGGGGTGGGGGAGGTAGGGAGGCTGG GGAGGCTGGGGGCGGGGGAGTCTGGGGAGGCTGGGGGGGTGGGGGGCTAG GAGGTGGGGGAGGCGGGGAGGCTGGGGAGGCTGGGGGGGCTGGGG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0079 a0002c0006t0002g0079	1	236	0.0042	794	c.148 others(811): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCAGCCTCCCCAGACTC CCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCTCCC CCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGCC TCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCCT CCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCCT TCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCT CCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCCCGCCTC CCCCACCTCCTAGCCCCCCACCCCCCCAGCCTCCCCAGACTCCCCCGCCC CCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCTCCCCCAGCCTC CCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGCCTCCCCAGC GCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCCTCCCCAGCA CCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCCTTCCCAGCC CCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCC CCCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCACCTCCCCAGCCTCC CCAGCCCCCCACCTCCCCAGCCTCCCCAGACTCCCAGCACCCCCAACCTC CCCAGCCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322429	T T	TATATATA others(787): Show TATATATATGCAGTATATATATATGAATATATATATGGAATATATATGGA ATATATATATGGAATATATATATGGAATATATATATGGAATATATATATG GAATATATATATATGTGGAATATATATATGGAATATATATATATGTGGAA TATATATATGGAATATATATATGGAATATATATATATGGAATATATATAT GGAATATATATATGGAATATATACATGGAATATATGTATATGGAATATAT ACATGGAATATATGTATATGGAATATATACATGGAATATGTGTATATGGA ATATATACATGGAATATATGTATATGGAATATATACATGGAATATATATA TGGAATATATACATGGAATATATATATGGAATATATACATGGAATATATA TATATAGAATATATACATGGAATATATATATATAGAATATATACATGGAA TATATATATGGAATATATACATGGAATATATATATATGGAATATATACAT GGAACATATACATGGAATATATACATGGAACATATACATGGAATATATAC ATGGAACATATACATGGAATATATATATATGGAACATATACGGAATATAT ATATGGAATATATATACGGAATATATATATGGAATATATATACGGAATAT ATATATGGAATATATATACGGAATATATATATATGGAATATATATACGGA ATATATATATATGGAATATATATACGGAATATATATATGGAATATATATA TGGAATATGTATATGGAATATATATATATGGAATATGTATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0246 a0002c0004t0002g0246	1	323	0.0031	794	c.-26 others(805): Show c.-2627_-2626insATATATATGCAGTATATATATATGAATATATATA TGGAATATATATGGAATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATGGAATATATATATATGTGGAATATATATATGGAATA TATATATATGTGGAATATATATATGGAATATATATATGGAATATATATAT ATGGAATATATATATGGAATATATATATGGAATATATACATGGAATATAT GTATATGGAATATATACATGGAATATATGTATATGGAATATATACATGGA ATATGTGTATATGGAATATATACATGGAATATATGTATATGGAATATATA CATGGAATATATATATGGAATATATACATGGAATATATATATGGAATATA TACATGGAATATATATATATAGAATATATACATGGAATATATATATATAG AATATATACATGGAATATATATATGGAATATATACATGGAATATATATAT ATGGAATATATACATGGAACATATACATGGAATATATACATGGAACATAT ACATGGAATATATACATGGAACATATACATGGAATATATATATATGGAAC ATATACGGAATATATATATGGAATATATATACGGAATATATATATGGAAT ATATATACGGAATATATATATGGAATATATATACGGAATATATATATATG GAATATATATACGGAATATATATATATGGAATATATATACGGAATATATA TATGGAATATATATATGGAATATGTATATGGAATATATATATATGGAATA TGTATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2540		chr21	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(787): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGG AAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAA GGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGG AGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGAAG GGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGA AGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGG GAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAG GGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGA AGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGG GAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGG GAGGAAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAA GGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	282	0.0036	794	c.290 others(813): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTC CTCCCTTTCTCCCTTCCTCCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTT CCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTC CCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCC TCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTT CCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTC CCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCC TCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTT CCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCC TCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCC TTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCT CCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCCT TCCTCCCTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
KIF25_chr6_167992671_168050091	167997233	G G	GGGGGCGG others(787): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATG GGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGAT GGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAG ATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAG ATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAG ATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGA GATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0221 a0003c0004t0001g0221	1	375	0.0027	794	c.-22 others(805): Show c.-2236_-2235insGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGG GAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGG GGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACG GGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCG GGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCG GGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGAC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		437		chr6	TogoVar
KMT2E_chr7_105009205_105120019	105096600	A A	AAAAAACT others(787): Show AAAAAACTTTCAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTT TTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTC ATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGT CTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGT CCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCT GCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCA TTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGG GTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTG CAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACG GCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATT CCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGC ACACCTCCCAGAAGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	304	0.0033	794	c.172 others(813): Show c.1723-4809_1723-4808insTTTTTTTTTTTTTTTTTTTTTTTTAA TTTTTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGG CAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAA CAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTG TTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGA GCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCT TAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGG GTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTT CTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACAC AGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCT TTCTATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCT GTTGGGCACACCTCCCAGAAGGGGTGGTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAAAAACTTTCAGTTTT	KMT2E	ENSG00000005483.23	transcript	ENST00000311117.8	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATA others(787): Show TATATATATATCCATATATATATATCCATATATATATATATATCCATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATCCATA TATATATATATCCATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0271 a0002c0002t0002g0271	1	284	0.0035	794	c.126 others(811): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATGGAT ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATGGATATATATATATATGGATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATGGATATATATATATGGATAT ATATATATATGGATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATGGATATATATATATGG ATATATATATGGATATATATATATATGGATATATATATATGGATATATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT GGATATATATATATGGATATATATATATATGGATATATATATATGGATAT ATATATATATGGATATATATATGGATATATATATATATATGGATATATAT ATATGGATATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(787): Show TATATATCCATATATATATATATATCCATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATCTATATATATATATATCCATATATATATATCCATATATATATC CATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATCCATATATATATATATCCATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0215 a0002c0002t0002g0215	1	284	0.0035	794	c.126 others(811): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATGGATATATATATATATGGATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATGGATATATATATATGGATATATATATATGGATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATATGGATATATATATGGATATATATATGGATATATATATATGGATATAT ATATATATAGATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATGGATATATATATATGG ATATATATATATGGATATATATATATATGGATATATATATGGATATATAT ATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(787): Show ATAAAACTCTATATAGTCACATATGTATATAAAACTCTATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCATATATGTATATAAAACTATATATAGTTATATGTATATAAAACTATAT ATAGTTATATGTATATAAAACTATATATAGTTATATGTATATAAAACTAT AATCATATATGTATATAAAACTATAGTCATATATGTATATAAAACTATAT ACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAA CTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTAT ATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATAT ATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAG TCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTAT ATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAA AACTATATATAGTCATATATGTATATAAAACTATATATAGTCATATATGT ATATAAAACTATATAGTTATATATGTATATAAAACTATATAGTTATATAT GTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGT ATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTAA AACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 NA19084.hp1 HG00423.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0006 a0001c0001t0007g0006 a0001c0001t0001g0006 a0001c0001t0007g0006	2	422	0.0047	794	c.-30 others(805): Show c.-3002_-3001insTAAAACTCTATATAGTCACATATGTATATAAAAC TCTATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTTATATG TATATAAAACTATATATAGTTATATGTATATAAAACTATATATAGTTATA TGTATATAAAACTATAATCATATATGTATATAAAACTATAGTCATATATG TATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCA TATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATA CAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAAC TATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATA TAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATA TGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGT CATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATA TATAGTCATATATGTATATAAAACTATATAGTTATATATGTATATAAAAC TATATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAAC TATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTA TAGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTA TATATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(787): Show GCCCTCCCCTCCCCTCCCCGTCCCCCTCCCTTCCCCTCCCCTCCCCCTTC CCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCT CCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCC CCTCCCCTCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCC TCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCTT CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTCTTCCCCTCCCCTC CCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCC TTCCCTCCCCCCTCCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCC CCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCATCCCCCTTCCCCTTC CTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCT GCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCT CACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCC CTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCC ACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCT GTCCCCACTCCTCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0128 a0001c0007t0002g0128	1	278	0.0036	794	c.115 others(811): Show c.1157+156_1157+157insGTCCCCCTCCCTTCCCCTCCCCTCCCCC TTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCC TCCCCTCCCCTCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTC CCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCC CTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTCTTCCCCTCCC CTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTC CCCTTCCCTCCCCCCTCCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTC CCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCATCCCCCTTCCCC TTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCC TCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCC CCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTC CCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTC CCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCT CCTGTCCCCACTCCTCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCACCC CTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(787): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCTCCCTC CCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCT CCACCCTCCCCTCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTC CCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTC CCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTTCCCCTCCCC CCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTT CCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTC TGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCC TCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCCTCCTCC CCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCC CACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCC TGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0145 a0002c0017t0002g0145	1	278	0.0036	794	c.115 others(811): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCTCC CTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCC CCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACC CTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCC TTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCC TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTTCCCCTC CCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCC CTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCC CTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTC CCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCCTCC TCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCT CCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTC TCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACCC CTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(787): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCTCCCTC CCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCT CCACCCTCCCCTCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTC CCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTC CCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTTCCCCTCCCC CCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTT CCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTC TGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCC TCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCC CCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCC CACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCC TGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01496.hp1 HG01978.hp2 others(5): Show HG00408.hp1 HG01496.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 NA18941.hp2 NA19067.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0011 a0001c0051 a0001c0052 others(1): Show a0001c0011 a0001c0051 a0001c0052 a0002c0022	a0001c0011t0002 a0001c0051t0001 a0001c0052t0003 others(1): Show a0001c0011t0002 a0001c0051t0001 a0001c0052t0003 a0002c0022t0003	a0001c0011t0002g0185 a0001c0011t0002g0203 a0001c0011t0002g0277 others(5): Show a0001c0011t0002g0185 a0001c0011t0002g0203 a0001c0011t0002g0277 a0001c0051t0001g0172 a0001c0052t0003g0138 a0002c0022t0003g0085 a0002c0022t0003g0094 a0002c0022t0003g0099	8	278	0.0288	794	c.115 others(811): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCTCC CTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCC CCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACC CTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCC TTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCC TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTTCCCCTC CCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCC CTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCC CTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTC CCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCT CCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCT CCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTC TCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACCC CTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYT1_chr20_64159452_64247253	64176074	C C	CCTGCAGC others(787): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTTCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0222 a0001c0001t0010g0222	1	223	0.0045	794	c.-99 others(813): Show c.-99+11337_-99+11338insGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTTCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(787): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGAGG GGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGAAGGGGAGGGAGGAGG GGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGA GGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAG GGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGG GGGAGGGGAGGAGGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGAGGG GAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAG GGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGAGGGGAGGAGTGGAGAGG AGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAAGGAA GCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGTGCGGG AGGGGAGGGGTGCGGGAGGGGAGGGTAAGGGAAGGGAGGGGAGGGTGGGG GAGGGGAGGGAAGAGGAGTGGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0169 a0001c0005t0001g0169	1	208	0.0048	794	c.279 others(809): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCCCCTCCCCTCCCCCCCTCCCCTCC CCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCTCCCCCTCCTCCCCTCCTCCCTCCCCTTCCTCCCCCTCCTCCCCTCC CCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCC CTCCCCCTTCCCCTCCCCCTTCCCCTCCCCTCCCCTTCCCCTCCCCTTCC CACCCCTCCCTTCTCCTTCCCCCTCCCCTTCCCTCCCTTCCCTTCTCCCC CCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NUP93_chr16_56725129_56855286	56739350	C C	CCCCCCCC others(787): Show CCCCCCCCACCTCCCTCCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGTGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGC GCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0237 a0001c0001t0004g0237	1	378	0.0027	794	c.-14 others(811): Show c.-14-8864_-14-8863insGCGGGGGGCTGACCCCCCAACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGTGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGG CGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCC CCCACCTCCCTCCCGG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLXNB2_chr22_50269979_50312646	50276351	A A	AGGGTGCA others(787): Show AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGAGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGG GGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTG GGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCG TGGATGGAGCCACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGGAGC CACAGGGACGGGCGCTGTGGGCACGGCCGTGGATGGAGCGACAGGGAGGG GCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGGG CAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTGGGCACCGCCCTGG GTGCAGCCGCAGGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCAC AGGGAGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGGG CACTGTGGGCACAGCCGTGGGTGGAGCCACAGGGACGGGCGCTGTGGGCA CAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTGGGT GGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCACAG GGACCGGCGCTGTGGGCATGGCCCTGGGTGCAGCCGCAGGGAGGGGGCGC TGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGCTGTGGGCATG GCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0163 a0001c0002t0002g0163	1	302	0.0033	794	c.533 others(811): Show c.5337+277_5337+278insACGGCCGTGCCCACAGCGCCCCCTCCCT GTCACTCCATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCAGGGCCAT GCCCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCGC CCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTGT CGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCA CGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTCCATCCACGGCCATGCC CACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGTGCCC CCTCCCTGCGGCTGCACCCAGGGCGGTGCCCACAGCGCCGGTCCCTGTGG CTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCAC GGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCCA CAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCCCCCT CCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCT GCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGG CCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCAC AGCGCCTCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCT CCCTGCGGCTGCACCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50276351	A A	AGGGTGCA others(787): Show AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGG GGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTG GGCACGGCCAAGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCG TGGATGGAGCCACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGGAGC CACAGGGACGGGCGCTGTGGGCACGGCCGTGGATGGAGCGACAGGGAGGG GCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGGG CAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTGGGCACCGCCCTGG GTGCAGCCGCAGGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCAC AGGGAGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGGG CACTGTGGGCACAGCCGTGGGTGGAGCCACAGGGACGGGCGCTGTGGGCA CAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTGGGT GGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCACAG GGACCGGCGCTGTGGGCATGGCCCTGGGTGCAGCCGCAGGGAGGGGGCGC TGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGCTGTGGGCATG GCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp2 HG03139.hp2 others(3): Show HG01891.hp2 HG02647.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp2 HG03579.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0042 a0002c0011t0002g0275 a0002c0011t0002g0281 others(3): Show a0002c0011t0002g0042 a0002c0011t0002g0275 a0002c0011t0002g0281 a0002c0011t0002g0283 a0002c0011t0002g0284 a0002c0011t0002g0285	6	302	0.0199	794	c.533 others(811): Show c.5337+277_5337+278insACGGCCGTGCCCACAGCGCCCCCTCCCT GTCACTCCATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCAGGGCCAT GCCCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCGC CCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTGT CGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCA CGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTCCATCCACGGCCATGCC CACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGTGCCC CCTCCCTGCGGCTGCACCCAGGGCGGTGCCCACAGCGCCGGTCCCTGTGG CTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCAC GGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCCA CAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCCCCCT CCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCT GCACCCTTGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGG CCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCAC AGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCT CCCTGCGGCTGCACCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50276351	A A	AGGGTGCA others(787): Show AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGG GGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTG GGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCA TGGATGGAGCCACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGGAGC CACAGGGACGGGCGCTGTGGGCACGGCCGTGGATGGAGCGACAGGGAGGG GCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGGG CAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTGGGCACCGCCCTGG GTGCAGCCGCAGGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCAC AGGGAGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGGG CACTGTGGGCACAGCCGTGGGTGGAGCCACAGGGACGGGCGCTGTGGGCA CAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTGGGT GGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCACAG GGACCGGCGCTGTGGGCATGGCCCTGGGTGCAGCCGCAGGGAGGGGGCGC TGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGCTGTGGGCATG GCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0014	1	302	0.0033	794	c.533 others(811): Show c.5337+277_5337+278insACGGCCGTGCCCACAGCGCCCCCTCCCT GTCACTCCATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCAGGGCCAT GCCCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCGC CCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTGT CGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCA CGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTCCATCCACGGCCATGCC CACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGTGCCC CCTCCCTGCGGCTGCACCCAGGGCGGTGCCCACAGCGCCGGTCCCTGTGG CTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCAC GGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCCA CAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCCCCCT CCCTGTGGCTCCATCCATGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCT GCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGG CCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCAC AGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCT CCCTGCGGCTGCACCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50276351	A A	AGGGTGCA others(787): Show AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGG GGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTG GGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCG TGGATGGAGCCACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGGAGC CACAGGGACGGGCGCTGTGGGCACGGCCGTGGATGGAGCGACAGGGAGGG GCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGGG CAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTGGGCACCGCCCTGG GTGCAGCCGCAGGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCAC AGGGAGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGGG CACTGTGGGCACAGCCGTGGGTGGAGCCACAGGGACGGGCGCTGTGGGCA CAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTGGGT GGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCACAG GGACCGGCGCTGTGGGCATGGCCCTGGGTGCAGCCGCAGGGAGGGGGCGC TGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGCTGTGGGCATG GCCATGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0002 a0010c0020t0002	a0010c0020t0002g0047 a0010c0020t0002g0047	1	302	0.0033	794	c.533 others(811): Show c.5337+277_5337+278insACGGCCGTGCCCACAGCGCCCCCTCCCT GTCACTCCATCCATGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCAGGGCCAT GCCCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCGC CCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTGT CGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCA CGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTCCATCCACGGCCATGCC CACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGTGCCC CCTCCCTGCGGCTGCACCCAGGGCGGTGCCCACAGCGCCGGTCCCTGTGG CTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCAC GGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCCA CAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCCCCCT CCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCT GCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGG CCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCAC AGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCT CCCTGCGGCTGCACCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar

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