Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(786): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCACCCCACCCACCGA CCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGT AGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGA GTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGAT GACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAATTAAAAAAAGGCTA AAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAAA TAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGC GATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCA CTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAGG TCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATCC TCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACTGTG CCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTTC AGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCAG CTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAAG AATAGTAAAACTGGCCGGGTGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG02080.hp2 others(3): Show HG00438.hp1 HG00438.hp2 HG02080.hp2 HG02897.hp2 HG03492.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0055 others(2): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0010g0091	6	382	0.0157	793	c.65 others(804): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC CACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTG GTGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGAT CGCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTG CACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAA ATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTAT TTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAA CTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGAT TATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTATC TTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCT GGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAG GTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTG GATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAA CAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCATT TATATGAAACTCAAGAATAGTAAAACTGGCCGGGTGCAGTGGCTCACACC TGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(786): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCTTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCT TCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTT CCTCCCCCTCTCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCC TCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCAC TTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTT CCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0201 a0002c0004t0003g0201	1	270	0.0037	793	c.162 others(814): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCTTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCC TCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTC CTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCT CCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCC TCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTC CTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT3_chr19_54132762_54160681	54133822	T T	TCTCACCT others(786): Show TCTCACCTCCCACTCACACCCTCCCTCTCACCACCAACCCCCTCTCCACA ACCTCCACTCTCCACCTCCCCTCTCACCTCCCACTCACACCTCCCCACAC ACAACACCCACAACACAACACACCCACACACACCACCCCTCACAACCCCC ACACCCACCTCCCCACTCTCTCCCTCACTCTCCACCTCCCCCTCTCTCCC TCCCTCTCACCACCTCCACCTCTCCACCTCCCTCTCTCCTCCCTCTCCAC CTCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCTCCACCTCCCTCCCACTCTCCCACCTCCCCACCACTCCCCTCCCTC TCTCCACCTCCCCTCTCTCCTCCCTCCCTCTCTCCACCTCCCTCTCTCTC CACTCCCCCTCTCTCACCACCTCCACCTCCCCTCCCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCCACTCTCCCCTCCCTCTCTCCACCTCCCCTCTC TCTCCCCTCCCTCACTCCACCTCCCCTCCTCTCTCCACCTCCCTCTCCTC CTCCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCACTCCCCTCTCCACCTCCCCTCTCTCTCTCCCCTCCCTCTCCCACCTC CCTCTCTCTCCCTCCTCTCACCACCTCCCTCTCTCTCTCCTCCCTCTCCA CCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCTCTCTCTCTCCCTCC CTCTCTCCACCTCCCTCCCTCTCTCCTCCCCTCCTCTCTCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	223	0.0045	793	c.-42 others(804): Show c.-4222_-4221insCTCACCTCCCACTCACACCCTCCCTCTCACCACC AACCCCCTCTCCACAACCTCCACTCTCCACCTCCCCTCTCACCTCCCACT CACACCTCCCCACACACAACACCCACAACACAACACACCCACACACACCA CCCCTCACAACCCCCACACCCACCTCCCCACTCTCTCCCTCACTCTCCAC CTCCCCCTCTCTCCCTCCCTCTCACCACCTCCACCTCTCCACCTCCCTCT CTCCTCCCTCTCCACCTCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCTCCACCTCCCTCCCACTCTCCCACCTCCCCA CCACTCCCCTCCCTCTCTCCACCTCCCCTCTCTCCTCCCTCCCTCTCTCC ACCTCCCTCTCTCTCCACTCCCCCTCTCTCACCACCTCCACCTCCCCTCC CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCCACTCTCCCCTCCCTCTC TCCACCTCCCCTCTCTCTCCCCTCCCTCACTCCACCTCCCCTCCTCTCTC CACCTCCCTCTCCTCCTCCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCACTCCCCTCTCCACCTCCCCTCTCTCTCTCCCC TCCCTCTCCCACCTCCCTCTCTCTCCCTCCTCTCACCACCTCCCTCTCTC TCTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC TCTCTCTCTCCCTCCCTCTCTCCACCTCCCTCCCTCTCTCCTCCCCTCCT CTCTCCTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3939		chr19	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(786): Show AAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAA GAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGG GAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA AGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02897.hp1 others(1): Show HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03540.hp2	a0001 a0001	a0001c0016 a0001c0020 a0001c0016 a0001c0020	a0001c0016t0003 a0001c0020t0001 a0001c0016t0003 a0001c0020t0001	a0001c0016t0003g0109 a0001c0016t0003g0110 a0001c0016t0003g0111 others(1): Show a0001c0016t0003g0109 a0001c0016t0003g0110 a0001c0016t0003g0111 a0001c0020t0001g0112	4	344	0.0116	793	c.85- others(810): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC TTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTG CCTTCCCCCTCCCTTCTTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTC CCTTCCTGCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COX6A1_chr12_120433113_120445730	120437284	T T	TTCAGGAG others(786): Show TTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAAATTG CAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCCTGGCAACAGAGCA AGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACTGTCATTTTATGTT ATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGCTTTTAGACAAGTC GAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTTGTAGACAAAATTT AACAGAGGTCAATTTTTTTTTTTTTTTTTTTGTCTCCCAGGCTGGAGTGC AGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCAGGTTCAAGCGAT TCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGGTGTGCGCCACCA TGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTG GCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAGCCAGTCTCGGCA TCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTCCCGGCCAGATGT CAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCAGTGTGACCAGAG GTCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTCATGCCTGTCATCC CACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTCAAGAGTTTG AGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAAA AGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 NA18948.hp1 HG00673.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0007 a0001c0001t0001g0016	2	426	0.0047	793	c.-84 others(802): Show c.-843_-842insTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGG GAGGCGGAAATTGCAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCC TGGCAACAGAGCAAGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACT GTCATTTTATGTTATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGC TTTTAGACAAGTCGAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTT GTAGACAAAATTTAACAGAGGTCAATTTTTTTTTTTTTTTTTTTGTCTCC CAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCC AGGTTCAAGCGATTCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAG GTGTGCGCCACCATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGG TTTCACCATGTTGGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCA GCCAGTCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACT CCCGGCCAGATGTCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCC AGTGTGACCAGAGGTCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTC ATGCCTGTCATCCCACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGA GGTCAAGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTA CTAAAAATACAAAAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCC CAGCTAC	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		828		chr12	TogoVar
COX6A1_chr12_120433113_120445730	120437284	T T	TTCAGGAG others(786): Show TTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGATTG CAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCCTGGCAACAGAGCA AGATTCCGTTTCAAAAAAAAAAAAAAAAAAAGTTTACTGTCATTTTATGT TATATACTTTTTTTTAAAGTTTTATTTTTAAAGCTGCTTTTAGACAAGTC GAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTTGTAGACAAAATTT AACAGAGGTCAATTTTTTTTTTTTTTTTTTTGTCTCCCAGGCTGGAGTGC AGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCAGGTTCAAGCGAT TCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGGTGTGCGCCACCA TGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTG GCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAGCCAGTCTCGGCA TCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTCCCGGCCAGATGT CAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCAGTGTGACCAGAG GTCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTCATGCCTGTCATCC CACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTCAAGAGTTTG AGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAAA AGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	426	0.0024	793	c.-84 others(802): Show c.-843_-842insTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGG GAGGCGGAGATTGCAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCC TGGCAACAGAGCAAGATTCCGTTTCAAAAAAAAAAAAAAAAAAAGTTTAC TGTCATTTTATGTTATATACTTTTTTTTAAAGTTTTATTTTTAAAGCTGC TTTTAGACAAGTCGAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTT GTAGACAAAATTTAACAGAGGTCAATTTTTTTTTTTTTTTTTTTGTCTCC CAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCC AGGTTCAAGCGATTCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAG GTGTGCGCCACCATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGG TTTCACCATGTTGGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCA GCCAGTCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACT CCCGGCCAGATGTCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCC AGTGTGACCAGAGGTCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTC ATGCCTGTCATCCCACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGA GGTCAAGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTA CTAAAAATACAAAAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCC CAGCTAC	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		828		chr12	TogoVar
COX6A1_chr12_120433113_120445730	120437284	T T	TTCAGGAG others(786): Show TTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGATTG CAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCCTGGCAACAGAGCA AGATTCCGTTTCAAAAAAAAAAAAAAAAAAAGTTTACTGTCATTTTATGT TATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGCTTTTAGACAAGT CGAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTTGTAGACAAAATT TAACAGAGGTCAATTTTTTTTTTTTTTTTTTGTCTCCCAGGCTGGAGTGC AGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCAGGTTCAAGCGAT TCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGGTGTGCGCCACCA TGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTG GCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAGCCAGTCTCGGCA TCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTCCCGGCCAGATGT CAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCAGTGTGACCAGAG GTCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTCATGCCTGTCATCC CACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTCAAGAGTTTG AGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAAA AGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG02055.hp2 HG02738.hp1 others(5): Show HG00140.hp1 HG02055.hp2 HG02738.hp1 HG03209.hp2 HG03453.hp1 HG03688.hp1 NA18940.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0002g0001 a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0002g0001	8	426	0.0188	793	c.-84 others(802): Show c.-843_-842insTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGG GAGGCGGAGATTGCAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCC TGGCAACAGAGCAAGATTCCGTTTCAAAAAAAAAAAAAAAAAAAGTTTAC TGTCATTTTATGTTATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTG CTTTTAGACAAGTCGAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTT TGTAGACAAAATTTAACAGAGGTCAATTTTTTTTTTTTTTTTTTGTCTCC CAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCC AGGTTCAAGCGATTCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAG GTGTGCGCCACCATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGG TTTCACCATGTTGGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCA GCCAGTCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACT CCCGGCCAGATGTCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCC AGTGTGACCAGAGGTCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTC ATGCCTGTCATCCCACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGA GGTCAAGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTA CTAAAAATACAAAAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCC CAGCTAC	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		828		chr12	TogoVar
COX6A1_chr12_120433113_120445730	120437284	T T	TTCAGGAG others(786): Show TTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGATTG CAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCCTGGCAACAGAGCA AGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACTGTCATTTTATGTT ATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGCTTTTAGACAAGTC GAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTTGTAGACAAAATTT AACAGAGGTCAATTTTTTTTTTTTTTTTTTTGTCTCCCAGGCTGGAGTGC AGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCAGGTTCAAGCGAT TCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGGTGTGCGCCACCA TGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTG GCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAGCCAGTCTCGGCA TCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTCCCGGCCAGATGT CAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCAGTGTGACCAGAG GTCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTCATGCCTGTCATCC CACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTCAAGAGTTTG AGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAAA AGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(181): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0022	184	426	0.4319	793	c.-84 others(802): Show c.-843_-842insTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGG GAGGCGGAGATTGCAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCC TGGCAACAGAGCAAGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACT GTCATTTTATGTTATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGC TTTTAGACAAGTCGAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTT GTAGACAAAATTTAACAGAGGTCAATTTTTTTTTTTTTTTTTTTGTCTCC CAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCC AGGTTCAAGCGATTCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAG GTGTGCGCCACCATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGG TTTCACCATGTTGGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCA GCCAGTCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACT CCCGGCCAGATGTCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCC AGTGTGACCAGAGGTCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTC ATGCCTGTCATCCCACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGA GGTCAAGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTA CTAAAAATACAAAAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCC CAGCTAC	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		828		chr12	TogoVar
COX6A1_chr12_120433113_120445730	120437284	T T	TTCAGGAG others(786): Show TTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGATTG CAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCCTGGCAACAGAGCA AGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACTGTCATTTTATGTT ATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGCTTTTAGACAAGTC GAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTTGTAGACAAAATTT AACAGAGGTCAATTTTTTTTTTTTTTTTTTTGTCTCCCAGGCTGGAGTGC AGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCAGGTTCAAGCGAT TCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGGTGTGCGCCACCA TGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTG GCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAGCCAGTCTCGGCA TCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTCCCGGCCAGATGT CAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCAGTGTGACCAGAG GTTAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTCATGCCTGTCATCC CACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTCAAGAGTTTG AGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAAA AGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02723.hp2 HG02809.hp1 others(2): Show HG02145.hp1 HG02723.hp2 HG02809.hp1 HG02922.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	5	426	0.0117	793	c.-84 others(802): Show c.-843_-842insTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGG GAGGCGGAGATTGCAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCC TGGCAACAGAGCAAGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACT GTCATTTTATGTTATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGC TTTTAGACAAGTCGAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTT GTAGACAAAATTTAACAGAGGTCAATTTTTTTTTTTTTTTTTTTGTCTCC CAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCC AGGTTCAAGCGATTCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAG GTGTGCGCCACCATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGG TTTCACCATGTTGGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCA GCCAGTCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACT CCCGGCCAGATGTCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCC AGTGTGACCAGAGGTTAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTC ATGCCTGTCATCCCACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGA GGTCAAGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTA CTAAAAATACAAAAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCC CAGCTAC	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		828		chr12	TogoVar
COX6A1_chr12_120433113_120445730	120437284	T T	TTCAGGAG others(786): Show TTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGATTG CAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCCTGGCAACAGAGCA AGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACTGTCATTTTATGTT ATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGCTTTTAGACAAGTC GAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTTGTAGACAAAATTT AACAGAGGTCAATTTTTTTTTTTTTTTTTTTGTCTCCCAGGCTGGAGTGC AGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCCAGGTTCAAGCGAT TCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAGGTGTGCGCCACCA TGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTG GCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCAGCCAGTCTTGGCA TCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACTCCCGGCCAGATGT CAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCCAGTGTGACCAGAG GTCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTCATGCCTGTCATCC CACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTCAACAGTTTG AGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAAA AGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01516.hp2 HG01517.hp2 others(6): Show HG01261.hp1 HG01516.hp2 HG01517.hp2 HG02083.hp1 HG03017.hp1 HG03239.hp2 HG03669.hp1 HG03710.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0049 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0049 a0001c0001t0001g0050	9	426	0.0211	793	c.-84 others(802): Show c.-843_-842insTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGG GAGGCGGAGATTGCAGTGAGCTGAGATCGCGCCACTGCACTCCTCCAGCC TGGCAACAGAGCAAGATTCCGTTTCAAAAAAAAAAAAAAAAAAGTTTACT GTCATTTTATGTTATATACTTTTTTTTTAAAGTTTTATTTTTAAAGCTGC TTTTAGACAAGTCGAAGGAAGAAAGAAGGGGATAAGGAGGAAAGAATTTT GTAGACAAAATTTAACAGAGGTCAATTTTTTTTTTTTTTTTTTTGTCTCC CAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACTTGCCCTCCC AGGTTCAAGCGATTCCTGTGCCTCAGCCACCCGGGTAGCTGGGATTACAG GTGTGCGCCACCATGCCCAGGTAATTTTTGTATTTTTAGTAGAGTTGGGG TTTCACCATGTTGGCCAGGCGGGTCTCGAACTTCTGACGTCAAGTGATCA GCCAGTCTTGGCATCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACT CCCGGCCAGATGTCAATTTTTGTTTCCACAATTTCAAGGAAGAGAAAGCC AGTGTGACCAGAGGTCAAAAGATGAGAATGTTGGCCGGGTACGGTGGCTC ATGCCTGTCATCCCACTATTTTGGGAGGCCGAGGCAGACAGATCACCTGA GGTCAACAGTTTGAGACCAGCCTGGCTAACATGGTGAAACACCGTCTCTA CTAAAAATACAAAAGAATTTGCTGGGCGTGGTGGTGCGTGCCTGTAATCC CAGCTAC	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		828		chr12	TogoVar
DCLK2_chr4_150073445_150262438	150251153	C C	CCACACAT others(786): Show CCACACATCCCTCACACCCCCCACACCCCCACACCCCCACACCCCCACAC ACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACACCCCC CACACCACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACC ACACATCCCTCACACCCCCCACACCCCCACACCCCCCACACCCCCCACAT CCCCCACACCCCCACACCCCCACACACCCCCCACACCACACATCCCTCAC ACCCCCCACACCCCCACACCCCCCACACCCCCCACACCCCCACACCCCCA CACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCACACCCC CACACCCCCCACACCCCCCACATCCCCCACACCCCCACACACCCCCCACA CCACACATCCCTCACATCCCCCACACCCCCCAACACCCCCACACCCCCCA CACCCCCCACATCCCCCACACCCCCACACACCCCCCACACCACACATCCC TCACATCCCCCACACCCCCCAACACCCCCACACCCCCCACACCCCCCACA CCCCTCACATCCCCCACACCCCCCCACACCCCCCACATCCCCACACACCA CAAATCCTCCACACCCCCCAACACCCCCACACACCCCCCACACACCCCCC ACACCACACATCCCCCACACCCCCAAATCCCCCACACCCCCCACATCTCC CCACACCCCCCACATCCCCACACCCCCATCCCCCACACTCCCCACACCCC CCACACCCCCCACATCCCCACACCACACATCCCCCACACCCCAA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	116	0.0086	793	c.207 others(812): Show c.2073+1469_2073+1470insCACACATCCCTCACACCCCCCACACC CCCACACCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACAC CCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCA CACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCACACCCC CACACCCCCCACACCCCCCACATCCCCCACACCCCCACACCCCCACACAC CCCCCACACCACACATCCCTCACACCCCCCACACCCCCACACCCCCCACA CCCCCCACACCCCCACACCCCCACACCCCCACACACCCCCCACACCACAC ATCCCTCACACCCCCCACACCCCCACACCCCCCACACCCCCCACATCCCC CACACCCCCACACACCCCCCACACCACACATCCCTCACATCCCCCACACC CCCCAACACCCCCACACCCCCCACACCCCCCACATCCCCCACACCCCCAC ACACCCCCCACACCACACATCCCTCACATCCCCCACACCCCCCAACACCC CCACACCCCCCACACCCCCCACACCCCTCACATCCCCCACACCCCCCCAC ACCCCCCACATCCCCACACACCACAAATCCTCCACACCCCCCAACACCCC CACACACCCCCCACACACCCCCCACACCACACATCCCCCACACCCCCAAA TCCCCCACACCCCCCACATCTCCCCACACCCCCCACATCCCCACACCCCC ATCCCCCACACTCCCCACACCCCCCACACCCCCCACATCCCCACACCACA CATCCCCCACACCCCAA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DIP2C_chr10_269201_694668	478383	G G	GGAGGGGA others(786): Show GGAGGGGAGAAGAGGGAGGGAGAGGGAGGGGAGGGGAGAAGAGGGGAGGG GAGAAGAGGGAGGGGAGGGGAGGGGAGAAGGGGAAGGAGGGGAGGGGGGT CGGGAGGGGTCGGGAGGAAGAAGGGAGGGGAGGGGAGGGGAAGGGAGGGG GGAGGGGAGGGGAGTGGAGGAGAAGGGAGGAGGGGAGGGAGGAGTGGGAA GGGAGGGGAGAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGAAGAAGGGAGGCGTTGCGGTTCGGCCCGTGCCCTCTCGG GAGAGTCGGGAGACGAGGGGAGGGGAGGGGAGAAGAAGGAGAAGGGAGAA GAAGGGAGAAGAGGGAGAAGAGGGGAGGGGAGAAGAGGGGAGGGGAGAAG AGGGGAGGGGAGGAGGGAGGGGTCTTGCTCCTCCTTTCTCCTCCTTTCTC CTCCTTTCTCGAGGGAGGAAGAAGGGAGAAGAAGGGAGAAGAGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGA GGGGAGGGGAGGCGGGGAGGGGAGGGGAGGAAGGGAGGGAGGGAGGGAGA GGAAGGAGGGAGGAGGAGAGGGGCGGGGCGGAGGAGGGGCGGGGCGGAGA GGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGC GGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGGGCGGGGCGGGGC GGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGAGGGGCAGAC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0084 a0001c0004t0001g0084	1	88	0.0114	793	c.158 others(810): Show c.158-5835_158-5834insGTCTGCCCCTCCCCGCCCCGCCCCGCCC CGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCTCTCCGCCC CGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCC CTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCCTCCGCCCCGCCCCTCT CCTCCTCCCTCCTTCCTCTCCCTCCCTCCCTCCCTTCCTCCCCTCCCCTC CCCGCCTCCCCTCCCCTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCTCTTCTCCCTTCTTCTCCCTTCTTCC TCCCTCGAGAAAGGAGGAGAAAGGAGGAGAAAGGAGGAGCAAGACCCCTC CCTCCTCCCCTCCCCTCTTCTCCCCTCCCCTCTTCTCCCCTCCCCTCTTC TCCCTCTTCTCCCTTCTTCTCCCTTCTCCTTCTTCTCCCCTCCCCTCCCC TCGTCTCCCGACTCTCCCGAGAGGGCACGGGCCGAACCGCAACGCCTCCC TTCTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC TTCCCTCTCCCCTCCCTTCCCACTCCTCCCTCCCCTCCTCCCTTCTCCTC CACTCCCCTCCCCTCCCCCCTCCCTTCCCCTCCCCTCCCCTCCCTTCTTC CTCCCGACCCCTCCCGACCCCCCTCCCCTCCTTCCCCTTCTCCCCTCCCC TCCCCTCCCTCTTCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCTCTCCCT CCCTCTTCTCCCCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DNAH17_chr17_78418697_78582396	78438426	A A	AGGAGGAG others(786): Show AGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGG GAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAG GAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAG GGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGA GGAGGGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAG GGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGA GGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAG GAGGAGGAGGGAGGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAAGGA GGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAG GGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGA GGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGG AGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGG AGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGA GGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0099 a0003c0099	a0003c0099t0002 a0003c0099t0002	a0003c0099t0002g0133 a0003c0099t0002g0133	1	252	0.0040	793	c.118 others(812): Show c.11806-559_11806-558insCTCCTCCCTCCTCCTCCTCCCTCCTC CCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTC CTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTC CTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCT CCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTC CCTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTCCT CCTCCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCT CCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCC TCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCT CCTCCCTCCTCCCCCTCCTCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCC CCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTC CCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCC TCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCC TCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCT CCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DOCK8_chr9_209865_470255	320273	G G	GGACCGAA others(786): Show GGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTG GGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATC AGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAG GTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGG AAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCG AACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCA AAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGAT GGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTG TGATCAGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAAAG CCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCGGACCGAACACT CACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCG GACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGG GCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCA GAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGG TTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGA AAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA20300.hp1 HG03209.hp2 NA20300.hp1	a0009 a0019 a0009 a0019	a0009c0035 a0019c0031 a0009c0035 a0019c0031	a0009c0035t0015 a0019c0031t0001 a0009c0035t0015 a0019c0031t0001	a0009c0035t0015g0218 a0019c0031t0001g0220 a0009c0035t0015g0218 a0019c0031t0001g0220	2	256	0.0078	793	c.827 others(810): Show c.827+3205_827+3206insGGACCGAACACTCACGGAAAAAGCCCAG GTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGG AAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCG AACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCA AAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGAT GGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTG TGATCAGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAAAG CCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCGAACACT CACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCG GACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGG GCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCA GAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGG TTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGGA AAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGA ACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAA AACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATG GCTGGGCTCAAAACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	320432	T T	TCAGAGAT others(786): Show TCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCAC GGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCT CAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAG ATGGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTC TGTGACCAGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAA AGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCGAACA CTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAAC CGGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCT GGGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGAT CAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCA GGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACG GAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACC GAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTC AAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0033 a0001c0036t0001g0033	1	256	0.0039	793	c.827 others(810): Show c.827+3364_827+3365insTCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCT CAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAG ATGGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTC TGTGATCAGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAA AGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCGGACCGAACA CTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAAC CGGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCT GGGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGAT CAGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCA GGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACG GAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACC GAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTC AAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGA TGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCT GTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAA GCCCAGGTTCTGTGA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	321774	C C	CCAGAGAT others(786): Show CCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCAC GGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCT CAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAG ATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTC TGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAA AGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACA CTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAAC CTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCT GGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGAT CAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCA GGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACG GAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACC GAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTC AAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGAT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0097 a0001c0003t0001g0097	1	256	0.0039	793	c.828 others(810): Show c.828-3776_828-3775insCCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCT CAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAG ATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTC TGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAA AGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACA CTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAAC CTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCT GGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGAT CAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCA GGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACG GAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACC GAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTC AAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGA TGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCT GTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAA GCCCAGGTTCTGTGA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89634737	C C	CCCTTCCT others(786): Show CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCC CTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCATTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTT CCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTCCCTTCCTTCTCCTTTCCCTTCTTCCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCTTCCTTCTCCTTTCCCCT TCCTTCTCCTTTCTCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTC CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTCCCCTTCCTTCTC CTTTCCCTTCCTTCCCTTTCCCTTCCTTCCTTTCCCTCCCTTCCTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCCCTTTTCCTTCCTTCTCCTTCTCCTTCCTTTCTCCCTTCCT TCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	250	0.0040	793	c.105 others(810): Show c.105-1169_105-1168insTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCATTCCTTCTCCTTTCCC CTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTCCCTTCCTTCT CCTTTCCCTTCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTC CTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCTCTTCCTTCCCTTTCCCC TTCCTTCTCCTTTCCCTTCCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCT TTCCCTCCCTTCCTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTTCCTTCCTTCTCCTTCT CCTTCCTTTCTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCTTCCTTCTCCTTTCCCCTTCCTTCCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
FAM120B_chr6_170301758_170412067	170377401	G G	GTGCACAC others(786): Show GTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACGC TGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACA CAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGC CCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTA AACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCAC ACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCG GTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCT CACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGA GAACACAGGCTCAGGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCA GACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGT CCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTG TGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCT GCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAGCAC CGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCC CGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAA ACCCAGACGCCCGGGAGAGCACCGGCTCACGCTGCTCGGTGCTA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02615.hp2 HG02976.hp1 others(16): Show HG02293.hp2 HG02615.hp2 HG02976.hp1 HG03130.hp1 NA18612.hp1 NA18939.hp2 NA18942.hp2 NA18947.hp1 NA18949.hp1 NA18952.hp2 NA18964.hp1 NA18970.hp2 NA19001.hp1 NA19060.hp1 NA19068.hp1 NA19076.hp2 NA19079.hp2 NA19084.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0036 a0001c0002t0001g0037 others(15): Show a0001c0002t0001g0001 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0082 a0001c0002t0001g0097	19	289	0.0657	793	c.228 others(814): Show c.2284-10869_2284-10868insTCCCAGACGCCCGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCG GGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATC CCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACG CGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTG CTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCAC GCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAA CACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGAC GCCCGGGAGAACACAGGCTCAGGCTGCTCGGTGCTGTGCACACGCGTCCC TAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGC ACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCT CGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGG CTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGG GAGAGCACCGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACC CAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGC GTCCCTAAACCCAGACGCCCGGGAGAGCACCGGCTCACGCTGCTCGGTGC TATGCACACGCGTCCCTAA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(786): Show TATATATGAATATATAAATAAAAATATATAAAAATATATACATATATAAA TATAAATATATAATATATAAATATATAAATATATAAATATATAAATATAA ATATATAAAAATATATAAATATATAAAAATATATAAATATATAAATATAT ATAAATATATATAAATATATAAATATATAAATATATATAAATATATAAAT ATATAAATATATAAAAATATATAAATACATAAATATATAAATATATAAAT ATATAAATATATAAATATATATAAGTACATATAAATATATATACATAAAT ATATAAATATATAAATATATAAATATATAAATACATAATATATATAAATA TAAAATATATATAATATATAAAATATATTAAAAATATAAAAATATATATA AAAAATATATAAATATATAAAAATATATAAAAAATATATACACATATAAA TATATATAAAAATATATAAATATATATAAAAATATATAAATATATATTAT ATATAAATATATAATATATAAATATATATAAATATATAAATATATATAAA TATATACAATATATAAATATATATAAATATATACAATATATAAATATATA TATACAATATATAAATATATATAAATATATACAATATATAAATATATATA AATATATACAATATATAAATATATATAAATATATACAATATATAAATATA TATAAATATATATAATATATAAATATATATAAATATATAAATATATATAA ATATATATAATATATAAATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	344	0.0029	793	c.617 others(810): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATATTTATATATAATATATATTTATATATTTTTATATATATTTA TATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTAT ATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATA TATTATATATATTTTATATTTATATATATTATGTATTTATATATTTATAT ATTTATATATTTATATATTTATGTATATATATTTATATGTACTTATATAT ATTTATATATTTATATATTTATATATTTATATATTTATGTATTTATATAT TTTTATATATTTATATATTTATATATTTATATATATTTATATATTTATAT ATTTATATATATTTATATATATTTATATATTTATATATTTTTATATATTT ATATATTTTTATATATTTATATTTATATATTTATATATTTATATATTTAT ATATTATATATTTATATTTATATATGTATATATTTTTATATATTTTTATT TATATATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(786): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATATATAAATATATAAATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATATAAATATATAAAT ATATAAATATATATAAATATATAAATATATAAATACATAAATATATAAAT ATATAAATATATAAATATATAAATATATATAAGTACATATAAATATATAT ACATAAATATATAAATATATAAATATATAAATACATAATATATATAAATA TAAAATATATATAATATATAAAATATATTAAAAATATAAAAATATATATA AAAAATATATAAATATATAAAAATATATAAAAAATATATACACATATAAA TATATATAAAAATATATAAATATATATAAAAATATATAAATATATATTAT ATATAAATATATAATATATAAATATATATAAATATATAAATATATATAAA TATATACAATATATAAATATATATAAATATATACAATATATAAATATATA TATACAATATATAAATATATATAAATATATACAATATATAAATATATATA AATATATACAATATATAAATATATATAAATATATACAATATATAAATATA TATAAATATATATAATATATAAATATATATAAATATATAAATATATATAA ATATATATAATATATAAATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02040.hp2 NA18970.hp2 others(1): Show HG00408.hp1 HG02040.hp2 NA18970.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0066 a0001c0001t0001g0068 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0125	4	344	0.0116	793	c.617 others(810): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATATTTATATATAATATATATTTATATATTTTTATATATATTTA TATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTAT ATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATA TATTATATATATTTTATATTTATATATATTATGTATTTATATATTTATAT ATTTATATATTTATGTATATATATTTATATGTACTTATATATATTTATAT ATTTATATATTTATATATTTATATATTTATGTATTTATATATTTATATAT TTATATATATTTATATATTTATATATTTATATATATTTATATATATTTAT ATATTTATATATTTTTATATATTTATATATTTTTATATATTTATATTTAT ATATTTATATATTTATATATTTATATATTATATATTTATATTTATATATG TATATATTTTTATATATTTTTATTTATATATTTATATATTTATATATATT TATATATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCCTCC others(786): Show TTCCCTCCCCTCTCCTCTCCCCTCCTTCCCCTCCCCTCTCCTCTCCCCTC CCCTCCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCCTCCTCCTCTCC TCTCCCCTCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTATC CTCCCCTTCTCCTCCCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCCT CTCCTCCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTGTCCTCCCC TCCCCTTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCTTT TCCTCTCCTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCC CTCCCCTCCCCCTCTCCTCCCTTCCTCGCCCCTCCCCTTTTTCTCTCTTC CCCTCCCTTTCCCACCCCTTCTCCTCCCCTCTTCCCCTCTTTTCCCTCCC CTCCTTTTTTCCTCCCTTCCCCTCCCCTCCCTTCCCTTCCCCTCCCCTTC TTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACCCC TTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCCTC TCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCC TCCCCTTTTTCTCCCCTCCCCTCCCTGCCTCTTCTCCTTTCCTCCCTTCC CCTCCCCTCCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTT CTCCTCACCTCTCTTCCCCTCCCCTCTCTTCCCCTCTCCTTTCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02559.hp2 others(2): Show HG01891.hp1 HG02258.hp1 HG02559.hp2 HG02572.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0009 a0001c0004t0023 a0001c0004t0006 a0001c0004t0009 a0001c0004t0023	a0001c0004t0006g0049 a0001c0004t0006g0078 a0001c0004t0006g0080 others(2): Show a0001c0004t0006g0049 a0001c0004t0006g0078 a0001c0004t0006g0080 a0001c0004t0009g0117 a0001c0004t0023g0083	5	138	0.0362	793	c.123 others(814): Show c.1237-15754_1237-15753insTCCCCTCTCCTCTCCCCTCCTTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCCCCTTCCTCTGCCCTCCCTTC CCCTCCCCCCTCCTCCTCTCCTCTCCCCTCTTTTCCTCCCCTCCCCTTCT CCTCCCATCCCTTCCCTTATCCTCCCCTTCTCCTCCCCTCACCTTCTCCT CTCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCTCCTCCCC TCCCCTTCTCCTGTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTTCTCTTC CCTTCCCCTCCCCTCCCCTTTTCCTCTCCTCCCGTCTCCTCCCTTCCCCT CTCTTCCCCTCCTCTTCTCCCCTCCCCTCCCCCTCTCCTCCCTTCCTCGC CCCTCCCCTTTTTCTCTCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCCC TCTTCCCCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCTTCCCCTCCCCTC CCTTCCCTTCCCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCCCC TCCCCTCCCCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCCTC TCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCC TCCCCTCTGCCTCTCCTCCCCTCCCCTTTTTCTCCCCTCCCCTCCCTGCC TCTTCTCCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCTTTCCCTCCCCT CCCCTCCCTTTCCTGCCCCTTCTCCTCACCTCTCTTCCCCTCCCCTCTCT TCCCCTCTCCTTTCCTCCC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
GAS6_chr13_113815549_113869076	113824248	A A	AGGAGCAC others(786): Show AGGAGCACCCGCGGTCTGGGGTCTGTCAGGAGCACACGCGGTCTGGGGTC TGAGCTGTCAGGAGCACCTGCGGTCTGAGTTCTGAGCTGTCAGGAGCATG CGCGGTCTGGGGTCTGAGCTGTCAGGAGCACGCGCGGTCTGGGGTCTGAG CTGTCAGGAGCACGCGCGGTCTGGGATCTGAGCTGTCAGGAGCACTGTGG TCTGGGGTCTGAACTGTCAGGAGCATGCGCGGTCTGGGGTCTGAACTGTC AGGAGCATGCGCGGTCTGGGGTCGGAGCTGTCGGGAGCACCTGTGGTCTG GGGTCTGAGCTGTCGGGAGCACCTGCGGTCTGGGGTCTGAGCTGTCGGGA GCACTATGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTC TGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACG CGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAG CTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCG GTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGT CGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCT GGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGG AGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCTGGGG TCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19091.hp2 NA19064.hp2 NA19091.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0044 a0001c0003t0001g0045	2	143	0.0140	793	c.147 others(810): Show c.1478-699_1478-698insCGACAGCTCAGACCCCAGACCGCGGGTG CTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACC CCAGACCGCGGGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCC CGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAG ACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGAC AGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCG CGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCT CAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCG TGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGA CCCCAGACCATAGTGCTCCCGACAGCTCAGACCCCAGACCGCAGGTGCTC CCGACAGCTCAGACCCCAGACCACAGGTGCTCCCGACAGCTCCGACCCCA GACCGCGCATGCTCCTGACAGTTCAGACCCCAGACCGCGCATGCTCCTGA CAGTTCAGACCCCAGACCACAGTGCTCCTGACAGCTCAGATCCCAGACCG CGCGTGCTCCTGACAGCTCAGACCCCAGACCGCGCGTGCTCCTGACAGCT CAGACCCCAGACCGCGCATGCTCCTGACAGCTCAGAACTCAGACCGCAGG TGCTCCTGACAGCTCAGACCCCAGACCGCGTGTGCTCCTGACAGACCCCA GACCGCGGGTGCTCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(786): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATAT ATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTAT ATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0002 a0012c0017t0002	a0012c0017t0002g0042 a0012c0017t0002g0042	1	268	0.0037	793	c.-28 others(804): Show c.-2852_-2851insAGTAACTATATTAATATAGTTAGTATATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAGA others(786): Show TAAGAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0032 a0002c0003t0003g0032	1	308	0.0033	793	c.127 others(812): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TTCCCCTC others(786): Show TTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGC CCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCC TTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTG CCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCT CCTGCCCTCCTCCCCTCCTGCCCACCTGCCCCCCTCCCCTCCTGCCCCCT TCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCC CTCCTGCCCTCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTCCCCT CCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCT CCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCC TCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCTCCCCTCCT GCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTCCCCTCCTGCC CTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCT GCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCC CTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCT CCCCTCATGCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCC CCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0206 a0001c0001t0042g0206	1	276	0.0036	793	c.65 others(804): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAG GAGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGG GCATGAGGGGAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAG GGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAG GGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAG GGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGAGGGCAGGAG GGGAGGGGGCAGGAGGGGAGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAA GGGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGG GCAGGAGGGGAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGGCA GGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGG AGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGG CAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGGCAGGTGGGCAGGAGGGGA GGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGG GGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGC AGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGG AGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGC AGGAGGGGA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
LHFPL3_chr7_104323603_104913561	104824176	A A	ATATATAT others(786): Show ATATATATAATATATATATTATATATTATATATATAATATATATATTATA TATTATAATATATAATATATAATATATATTATATATATTATATTATATAT TATATATATAATATATTATATATTATATATATATTATATAATATATTATA TATTATATATATATTATATTATATATTATATATAATTATATATATTTTAT ATATTATATATTATATATTATATATTATATATTATATATTATATATATTA TATATTATATATTATATATTATATATTATATATATTATATATTATATATT ATATTTTATATATATTATATATTATATATACAATTATATATATTATATAT ATTATATATTATATATATTATATATTATATAATATATTATATATAATATA TATTATATATTATATATTATATAATATATATATAATATATTATATATTAT ATATTATATAATATATTATATATAATATATATTATATATTATATATTATA TAATATATAATATATAATATATATTATATATATATTATATAATATATTAT ATATATAATATATTATATAATATATTATATATATAATATATATTATATAT AATATATATAATTGTATATATAATATATAATATATAATATATAATATATA TAATATATAATATATAATATATATAATATATAATATATAATATATAATAT ATATAATATATAATATATAATATATAATATATAATATATAATATATAAAA TATATATATAAAATATATTATGTATTATATATTATATAATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0023 a0001c0001t0008g0023	1	86	0.0116	793	c.683 others(812): Show c.683-81995_683-81994insATTATATATTATATATATAATATATA TATTATATATTATAATATATAATATATAATATATATTATATATATTATAT TATATATTATATATATAATATATTATATATTATATATATATTATATAATA TATTATATATTATATATATATTATATTATATATTATATATAATTATATAT ATTTTATATATTATATATTATATATTATATATTATATATTATATATTATA TATATTATATATTATATATTATATATTATATATTATATATATTATATATT ATATATTATATTTTATATATATTATATATTATATATACAATTATATATAT TATATATATTATATATTATATATATTATATATTATATAATATATTATATA TAATATATATTATATATTATATATTATATAATATATATATAATATATTAT ATATTATATATTATATAATATATTATATATAATATATATTATATATTATA TATTATATAATATATAATATATAATATATATTATATATATATTATATAAT ATATTATATATATAATATATTATATAATATATTATATATATAATATATAT TATATATAATATATATAATTGTATATATAATATATAATATATAATATATA ATATATATAATATATAATATATAATATATATAATATATAATATATAATAT ATAATATATATAATATATAATATATAATATATAATATATAATATATAATA TATAAAATATATATATAAAATATATTATGTATTATATATTATATAATATA TTATATATAATATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(786): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCG GGCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCG GGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACC GGGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTAC ATACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0085 a0003c0005t0002g0085	1	296	0.0034	793	c.368 others(810): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTAAGTGGCCCGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGT AAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTA TGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATG TAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTA TGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364601	C C	CACCCACA others(786): Show CACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTC CACACCCACACTCACACCCACCCACACTCACACCCACCCACACTCACACC CACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACA CCCACACTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTCA CACCCACCCACACTCACACCCACCCACACTTACACCCACCCACACTTACA CCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCA CACCCACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTA CCTCCACACCCACACTTACACCCACACTTACATCTACCTCCACGCCCACA CTCACACCCACCCACACTCACACCCACCCACACTCACACCCACCCACACT TACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACA CTCACACCCACCCACACTCACACCCACCCACACTCACACCCACCCACACT TACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACACTTA CATCTACCTCCACGCCCACACTCACACCCACCCACACTCACACCCACCCT TACATCTACCTCCACGCCCACACTCACACCCACCCACACTTACACCCACC CTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTACACCCA CCCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0080 a0001c0003t0006g0080	1	290	0.0035	793	c.129 others(810): Show c.1290-823_1290-822insACCCACACTTACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTC ACACCCACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCT ACCTCCACACCCACACTTACACCCACACTTACATCTACCTCCACGCCCAC ACTCACACCCACCCACACTCACACCCACCCACACTCACACCCACCCACAC TTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTCACACCCACCCACACTCACACCCACCCACAC TTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACACTT ACATCTACCTCCACGCCCACACTCACACCCACCCACACTCACACCCACCC ACACTCACACCCACCCACACTTACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCACCC ACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACAC CCACACTTACACCCACACTTACATCTACCTCCACGCCCACACTCACACCC ACCCACACTCACACCCACCCTTACATCTACCTCCACGCCCACACTCACAC CCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCCACACTCAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCCACACTC ACACCCACCCACACT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10			chr10	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(786): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCTCCCTC CCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCT CCACCCTCCCCTCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTC CCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTC CCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTTCCCCTCCCC CCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTT CCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTC TGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCC TCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCC CCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCC CACCCCTCCCCTTCCCTCCCCACCTCCCCCTCCCCTCCCTTCCCTCTCCT GTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0189 a0001c0011t0002g0189	1	278	0.0036	793	c.115 others(810): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCTCC CTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCC CCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACC CTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCC TTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCC TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTTCCCCTC CCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCC CTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCC CTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTC CCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCT CCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCT CCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCTCCCCTCCCTTCCCTCT CCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCC TCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MPPED1_chr22_43407014_43512848	43432640	A A	AAAGGGAG others(786): Show AAAGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAG AGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAAAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0097 a0001c0001t0004g0097	1	250	0.0040	793	c.225 others(810): Show c.225-2394_225-2393insAAGGGAGGAGAGAGAGGGAAAGAGAGAG AGAAGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGG AAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGA GGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAG GGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAG GAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAG ATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
NKAIN2_chr6_123798865_124830640	124687570	T T	TTCCATAC others(786): Show TTCCATACATATACATACATGGTATATATTCCATATATATACATACATGG TATATATTCCATATATACATACATGGTATATATTCCTATATATACATACA TGGTATATATTCCATATATATACATACATGGTATATATTCCATATATATA CATACATGGTATATATTCCATATATATATACATACATGGTATATATTCCA TATATATATACACATACATGGTATATATTCCATATATATATACACATACA TGGTATATATTCCATATATATATACACATACATGGTATATATTCCATATA TACATACATGGTATATATTCCATATATACATACATGGTATATATTCCAAT ATATACATACATGGTATATATTCCAATATATACATACATGGTATATATTC CATATATATACATACATGGTATATATTCCATATATATATACATACATGGT ATATATTCCATATATATACATACATGGAATATATATATTCCATACATGGA ATATATATATTCCATACATGGAATATATATATTCCATATATACATATATA TATTCCATATATACACATATATATATTCCATATATACACATATACATGGA ATATATATCTGTATATATATGGAATATATATATGTATATATATGAAATAT ATATGTATATGTATTTATATTATGTATTTATATTATAAATATATATTATG TATATATATTTATATTATAAATATATATTATGTATATATTTATAATATAA ATATATATTATGTATATATATTTATATTATAAATATATATTATG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	66	0.0152	793	c.474 others(812): Show c.474+29184_474+29185insTCCATACATATACATACATGGTATAT ATTCCATATATATACATACATGGTATATATTCCATATATACATACATGGT ATATATTCCTATATATACATACATGGTATATATTCCATATATATACATAC ATGGTATATATTCCATATATATACATACATGGTATATATTCCATATATAT ATACATACATGGTATATATTCCATATATATATACACATACATGGTATATA TTCCATATATATATACACATACATGGTATATATTCCATATATATATACAC ATACATGGTATATATTCCATATATACATACATGGTATATATTCCATATAT ACATACATGGTATATATTCCAATATATACATACATGGTATATATTCCAAT ATATACATACATGGTATATATTCCATATATATACATACATGGTATATATT CCATATATATATACATACATGGTATATATTCCATATATATACATACATGG AATATATATATTCCATACATGGAATATATATATTCCATACATGGAATATA TATATTCCATATATACATATATATATTCCATATATACACATATATATATT CCATATATACACATATACATGGAATATATATCTGTATATATATGGAATAT ATATATGTATATATATGAAATATATATGTATATGTATTTATATTATGTAT TTATATTATAAATATATATTATGTATATATATTTATATTATAAATATATA TTATGTATATATTTATAATATAAATATATATTATGTATATATATTTATAT TATAAATATATATTATG	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6			chr6	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(786): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATAT ATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTAT ATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0270 a0002c0002t0005g0270	1	422	0.0024	793	c.195 others(810): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGT TACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTA TATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATAT ACTAACTATATTATTAATATAGTTACTATATATTAATATATACTAACTAT ATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NUP93_chr16_56725129_56855286	56739350	C C	CCCCCCCC others(786): Show CCCCCCCCACCTCCCTCCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCG CCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19004.hp1 NA18952.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0231 a0001c0001t0004g0232	2	378	0.0053	793	c.-14 others(810): Show c.-14-8864_-14-8863insGCGGGGGGCTGACCCCCCAACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGC GCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	948826	G G	GGCCTCCT others(786): Show GGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC GCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCC CCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTG CCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTACTCTC CCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0004 a0001c0001t0019g0004	1	242	0.0041	793	c.360 others(812): Show c.360+30492_360+30493insAGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGGAGAGTAGGAGGCCGCGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGG AGGAGGCAGGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGG GGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAG GCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGG GGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGA GGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGG GGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGA GGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAG GGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGG AGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAG AGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCG GGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PAK2_chr3_196734857_196837647	196811306	T T	TTCCCTCC others(786): Show TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCT CCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCTTCCCTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTAC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTT CCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTC CTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCC TTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCTTCCCTCCCT TCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	178	0.0056	793	c.773 others(808): Show c.773+658_773+659insCCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTC CCTTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTTC CTTCCTTCCCTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTC CCTTCCTTCCCTACCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCC TCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTC CCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTC CCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCC TCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTT CCCTTCCCTCCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PNPLA7_chr9_137454952_137555402	137502730	G G	GGGGGGAC others(786): Show GGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGG GGGACGGGGGGGACGGGGGGGGGCGGGGGGGGCGGGGGGGGGCGGGGGGG ACGGGGGGGGCGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGCGGG GGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGGACGGGGGG GACGGGGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGGGAC GGGGGGGACGGGGGGGGGCGGGGGGGGCGGGGGGGGGCGGGGGGGACGGG GGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGG GACGCGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGG GGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGG ACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCG GGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGG GACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGG GGGGGACGGGGGGGACGCGGGGGGACGCGGGGGGACGGGGGGGGACGGGG GGGACGGGGGGGACGGGGGGGACGCGGGGGGGACGCGGGGGACGCGGGGG ACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCG GGGGGCGGGGGGGGCGGGGGGGACGGGGGGGACGGGGGGGACGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0019 a0004c0007t0002g0019	1	188	0.0053	793	c.147 others(812): Show c.1474-1004_1474-1003insTCGTCCCCCCCGTCCCCCCCGTCCCC CCCGCCCCCCCCGCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGT CCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGCGTCCC CCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCCGTCCCCCCGCGTCCCCCC GCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTC CCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCG CGTCCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGT CCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCC CCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTC CCCCGCGTCCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCC CCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGCCCCCCCCCGCCCCCCCCG CCCCCCCCCGTCCCCCCCGTCCCCCCCCGTCCCCCCCGCCCCCCCCGCCC CCCCCGCCCCCCCCCGTCCCCCCCGTCCCCCCCGCGTCCCCCCCGTCCCC CCCGTCCCCCCCGTCCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGC GTCCCCCGCCCCCCCCGTCCCCCCCGCCCCCCCCCGCCCCCCCCGCCCCC CCCCGTCCCCCCCGTCCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCC CGTCCCCCGCGTCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
RAPGEF4_chr2_172730845_173057893	172989367	C C	CCAACCAA others(786): Show CCAACCAAGTATTTTCTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCT AAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATAC ATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGG TATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCC CCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAAT TCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGAT AGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGA TATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGT GCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTC CAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGT GTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATG GGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATTGC CACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTG TAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTG ACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTG GTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03491.hp1 HG03492.hp2 others(1): Show HG00642.hp2 HG03491.hp1 HG03492.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0137 others(1): Show a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0139	4	178	0.0225	793	c.137 others(810): Show c.1374+543_1374+544insTTTTTTTTTTTTTTTTTTTTTTTTATTA TACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATAT GTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGC ATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCA CAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTG TTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCT TGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTAC AAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGT ATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGT TGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGT GCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCA GTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGG AATTGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCA ACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGT TTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTC ATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTT CAACCAAGTATTTTC	RAPGEF4	ENSG00000091428.18	transcript	ENST00000397081.8	protein_coding	14/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCARA5_chr8_27864883_27997673	27918978	A A	AGGAGGAG others(786): Show AGGAGGAGGAGAAGGAGGAGGAGAAAGAGGAGGAGGAGGAAGAGGAGGAA GAGGAGAAAGAGGAGGAAAAGAAGGAGGAGGAGGAAGAGAAAAGGAGGAG GAGGGGAAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAGAAGAA AGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGAGAAAA GGAGGAGGAGAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACAGGAGGA GGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGAAGGAGA AGGAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAGGAGGAG GAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGA GGAGGAGAGAAGGGAGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGGAGA AGAAAGAAGAGGAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGGGCA GAAGAGAAGGAGGAAGAGGAGAAAGAGGAGGAGGAGGGGAAAGAAGAGGA TAAGGAAGAAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGGGGAAGA AAGAGGAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGGAAAAGAAGG AGGAGGAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGG GGAAGGAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGAATAGAGGAG GAGGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0011 a0011	a0011c0034 a0011c0034	a0011c0034t0008 a0011c0034t0008	a0011c0034t0008g0306 a0011c0034t0008g0306	1	314	0.0032	793	c.916 others(810): Show c.916+2592_916+2593insCTTCTCTTCTCCTCCTCCCTTCTCTCCT CCTCCTCTATTCCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCC TCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCC TCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTC TCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTC TTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCTTTCTCCT CTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTC TCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTC CTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCT CCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTTCTCCTTC CCCTCCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCC CTCCTCCTCCTTCTCCTCCTCCTGTTCCTCCTTCTCCTTTTCCTCCTCCT TCCCCTCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTCCTTTTC CTCCTCTTTCTCCCCTTTCTTCTCCTCCTCCTTCCCCTCCTCCTCCTTTT CCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTCCTTCTTTT CCTCCTCTTTCTCCTCTTCCTCCTCTTCCTCCTCCTCCTCTTTCTCCTCC TCCTTCTCCTCCTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1289847	G G	GTCTCTGC others(786): Show GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCCCGTGTCCCTGCCCCG TCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	290	0.0035	793	c.166 others(810): Show c.1663-422_1663-421insTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTC TGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGT CCCCCGTGTCCCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTC TGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(786): Show ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTC ACCCCCGTACCCATCCTATCCACCCACCCACCATCCCCCATCGTATCCAC CCACCCACCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTAT CCACCCCCCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCC TATCCACCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCC ATCCTATCCACCCCCCCACCATCCCCCATCCTATCCACCCCCCATCATCC ACCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCACCCCCCCACC ATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCCCC CACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTATCCACCCAC CAACCCACCATCTGCCATCCTATCCACCCACCCACCCACCATCCACCATC CTATCCACCCACCCATCATCCACTATCCATCCACCACCCCCACACCCATC CTATCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCACTATCC ATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACTCACCCA CCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACCCATCAT ATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCATC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	258	0.0039	793	c.113 others(812): Show c.113-25872_113-25871insCATCCCCCATCCTATCCACCCACCCA CCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACC CCCACATCCATCCTATCTACTCACCCCCGTACCCATCCTATCCACCCACC CACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACC CCCCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCC ACCCCCCCACCATCCCCCATCCTATCCACCCCCCCACCATCCCCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCCCCCA TCCTATCCACCCCCCATCATCCACCATCCTATCCACCCCCCCACCATCCC CCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCACCCACCCACCA TCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCC CACATCCATCCTATCCACCCACCAACCCACCATCTGCCATCCTATCCACC CACCCACCCACCATCCACCATCCTATCCACCCACCCATCATCCACTATCC ATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATCCACCATCC ACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCACCCACCAT CCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCTACCCATTC TGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCCATCCATCC TATCCATCCACCCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(786): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATG TATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCAT ATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTG TCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGT GTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTA AGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTA TATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGC ATACCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATTGTGTGTGTGTG TGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCC TTGTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	2	432	0.0046	793	c.199 others(810): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTG TATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGAT AACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGT TTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTC ATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTA TGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGT GTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGT GTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTA TGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAA GGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGATAACAG TCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATA CCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGTGTGT GTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TMPRSS9_chr19_2355265_2431261	2419018	C C	CCCTTCCT others(786): Show CCCTTCCTTCCCTCCCTCCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCTC CCTCCACTTCCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACCT CCCCTTCCCTCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTA CCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTC TCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCT TCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCC TTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCCTCCTTCCCTTC CCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCCCCTTCCCAC CCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCCTTCCCTTCCCTC CCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCCTCCCTCCCTCTCCTTCC CTCCCTCCCTCTCCTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCT TTCCTTCCCTCCCTCCCTTTCCTTTCCTTCCCTCCCTCCCTTTCCTTCCC TCCCTCCCTTTCCTTTCCTCCCTCCCTCCCTTTCCTTCCCTCTCCTCCCT CTCCTTCCCTCTCCTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCT TTCCTTCCCTTCCCTCTGTTTCCTTTCCTCTCTCCCTTTCCTTCCCTTCC CTCCCTCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0014 a0014	a0014c0026 a0014c0026	a0014c0026t0002 a0014c0026t0002	a0014c0026t0002g0102 a0014c0026t0002g0102	1	114	0.0088	793	c.215 others(810): Show c.2154+882_2154+883insTTCCTTCCCTCCCTCCCTTTCCTTTCCT TCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCTCTTTCCTTCC CTGCCTTCCCTCCCTACCTCCCCTTCCCTCCTACCTCCCCTTCCCTCCCT ACCTCCCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCT TTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCCC TTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCC CTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTC CCTCCCCCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCA CCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTC TCTCTCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTC CCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCCTTCCTTCCCTCCCTCCC TTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTTCC CTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTCCCTCCCTCCCT TTCCTTCCCTCTCCTCCCTCTCCTTCCCTCTCCTCCCTCCCTCCCTTTCC TTCCCTTCCCTCCCTCCCTTTCCTTCCCTTCCCTCTGTTTCCTTTCCTCT CTCCCTTTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCGCC CTCTCCTTCCCTTCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TTLL8_chr22_50013575_50063298	50028618	G G	GAAGACCC others(786): Show GAAGACCCCCACACACACTCGTAGAGACCCCCATCACACCGTCCTGAAGA CCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACA CACACTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCCACATACCC TCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAA GACCCCATCACACCATCCTGAAGACCCCACACACACTCGTAAAGACCCCC ATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACAC CATCCTGAAGACCCACACATACCCTCGTAAAGACCCCCATCACACCGTCC TGAAGACCCACACATACCCTCGTAAAGACCCCATCACACCGTCCTGAAGA CCCACACATACCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCACA CATACCCTCGTAAAGACCCCCATCACACCATCCTAAAGACCCCCACACAC ACTCGTAGAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGT AAAGACCCCCGTCATACCATCCTGAAGACCCCACACACCCTCGTAAAGAC CCCCATCATACCATCCTAAAGACCCCCACACACACTTGTAAAGACCCCAT CACACCGTCCTAAAGACCCCCACACACCCTCGTGAAGACCCCATCACACC GTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCATCACACCGTCCTG AAGACCCCACACACCCTCGTAAAGACCCCCATCACGCTGTCCTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0101 a0003c0003t0001g0101	1	224	0.0045	793	c.225 others(812): Show c.2251+1811_2251+1812insTAGGACAGCGTGATGGGGGTCTTTAC GAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTA TGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTCACGAGGGTGTGTGGG GGTCTTTAGGACGGTGTGATGGGGTCTTTACAAGTGTGTGTGGGGGTCTT TAGGATGGTATGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGAT GGTATGACGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTG ATGGGGGTCTCTACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGG GGTCTTTACGAGGGTATGTGTGGGTCTTTAGGATGGTGTGATGGGGTCTT TACGAGGGTATGTGTGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAG GGTATGTGTGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGGGTAT GTGTGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGG TCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCA GGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGT GTGATGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATG GGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCT TTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTCTACGA GTGTGTGTGGGGGTCTT	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(786): Show AATATATAATATATATAATATATATAATATAATATAATGCAATATATAAT AATTATATAATATAATATATAATATATAATATATATTATATATTATATAT AATATATATTATATATTATATATAATAATATAATATATAATATACATTAT ATAATAATATAATATATAATATACATTATATAATAATATAATGTATATTA TATAATAATAATGTAATATATAACATATATTATATAATAATAATATAATA TATATTATATAATTAATATAATATATAATATATTTTATATAATAATAATA TAATATATATTATATAATTAATATAATATATAATATATATTATATAATAA TAATATAATATATATAATAATTATATAATATAGTATATAATATATATTAT ATAATAATAATATAATATATATAATAATTATATAATATTAGAATATATAT TATACAATAATAATATAATATATTATACAATAATAATATAATATATATAT AATTATATAATATAATATATATAATAATAATATAATATAATATATAATAT ATATTATATAGTAATAATATAATATAATATATAATATATATTATATAGTA ATAATATAATATAATATATAATATATATTATATGATAATATAATATAATA TATATTATATATTATATTATAATATAATATAATATATATTATATATTATA TAATAATATAATATAATATATAATATATATTATATAATAATATAATATAA TATATAATATATATTATATAATAATATAATATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	218	0.0046	793	c.55+ others(808): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTATATA ATATATATTATATATTATATTATATTATTATATAATATATATTATATATT ATATTATATTATTATATAATATATAATATATATTATATTATATTATAATA TAATATATAATATATATTATATTATATTATCATATAATATATATTATATA TTATATTATATTATTACTATATAATATATATTATATATTATATTATATTA TTACTATATAATATATATTATATATTATATTATATTATTATTATATATAT TATATTATATAATTATATATATATTATATTATTATTGTATAATATATTAT ATTATTATTGTATAATATATATTCTAATATTATATAATTATTATATATAT TATATTATTATTATATAATATATATTATATACTATATTATATAATTATTA TATATATTATATTATTATTATATAATATATATTATATATTATATTAATTA TATAATATATATTATATTATTATTATATAAAATATATTATATATTATATT AATTATATAATATATATTATATTATTATTATATAATATATGTTATATATT ACATTATTATTATATAATATACATTATATTATTATATAATGTATATTATA TATTATATTATTATATAATGTATATTATATATTATATTATTATATATAAT ATATAATATATATTATATATAATATATAATATATATTATATATTATATAT TATATTATATAATTATTATATATTGCATTATATTATATTATATATATTAT ATATATTATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
ABCB11_chr2_168915781_169036324	168975298	T T	TAGATAAA others(787): Show TAGATAAATATATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATA TATAAATATATAAATATTTATATATTTATAGATAAATATATATATATAAA TATTTATATATTTATAGATAAATATATAAATATATAAATATTTATATATT TATAGATAAATATATAAATATATAAATATTTATAGATAAATATATAAATA TATAAATATTTATATATTTATAGATAAATATATAAATATTTATATATTTA TCTATAAATATATAAATATTTATATATTTATAGATAAATATATAA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	306	0.0033	794	c.130 others(813): Show c.1308+1278_1308+1279insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATAGATAAATATATAAATATTTATATATTTATCTAT AAATATATAAATATTTATATATTTATATATTTATCTATAAATATTTATAT ATTTATATATTTATCTATAAATATATAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATATATATTTATCTATAAATATAT AAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATATATTTATCT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975298	T T	TAGATAAA others(787): Show TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATA TATAAATATATAAATATTTATATATTTATAGATAAATATATATATATAAA TATTTATATATTTATAGATAAATATATAAATATATAAATATTTATATATT TATAGATAAATATATAAATATATAAATATTTATAGATAAATATATAAATA TATAAATATTTATATATTTATAGATAAATATATAAATATTTATATATTTA TCTATAAATATATAAATATTTATATATTTATAGATAAATATATAA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18959.hp2 NA18991.hp1 others(1): Show NA18942.hp2 NA18959.hp2 NA18991.hp1 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0015 a0001c0002t0002 a0001c0002t0015	a0001c0002t0002g0128 a0001c0002t0015g0003 a0001c0002t0015g0207 a0001c0002t0002g0128 a0001c0002t0015g0003 a0001c0002t0015g0207	4	306	0.0131	794	c.130 others(813): Show c.1308+1278_1308+1279insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATAGATAAATATATAAATATTTATATATTTATCTAT AAATATATAAATATTTATATATTTATATATTTATCTATAAATATTTATAT ATTTATATATTTATCTATAAATATATAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATATATATTTATCTATAAATATAT AAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ADARB1_chr21_45069580_45231560	45156214	T T	TCCACCCA others(787): Show TCCACCCACCCACCCACCCATCATCACCCATCACCCATCATCTATCTATC CATCCATCCACCCATCCATCATTACCCATCATCCATCTATCCATGCACCC ACCCACCATCACCCATCATCCACCCACCCAACCACCCACCATCACCCATC ATCCATCATCCATTCATCCATCCATCTGCCCACCCACCCATCATCCATTC ATCCATCCATCCACCCACCCATCATCACCTATCATCCATCATCCATTCAT CCATCCATCCATCCACCTACCCATCATCACCCATCATCTGTCATCCATCC ATCCATCCACCCACCCACCCATCATCACCCATCACCCATCATCTATCCAG CCATCCATCCACCCACCCATCATCACCCATCACCCATCATCCATCCATCC ATCCACCCACCCATCATCACCCATCACCCATCATCCATCTATCCATCCAC CCACCCATCATCACCCATCACCCATCATCCATCCATCCATCCATCCACCC ACCCATCATCACCCATCACCCATCATCTATCTATCCATCCATCCACCCAC CCATCATTACCCATCATCCATCTATCCATGCACCCACCCACCATCACCCA TCATCCACCCACCCAACCACCCACCATCACCCATCATCCATCATCCATTC ATCCATCCATCTGCCCACCCACCCATCATCCATTCATCCATCCATCCACC CACCCATCATCACCTATCATCCATCATCCATTCATCCATCCATCCATCCA CCTACCCATCATCACCCATCATCTGTCATCCATCCATCCATCCAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0077 a0001c0002t0077	a0001c0002t0077g0221 a0001c0002t0077g0221	1	350	0.0029	794	c.-47 others(813): Show c.-47-15381_-47-15380insCCCATCATCACCCATCACCCATCATC TATCTATCCATCCATCCACCCATCCATCATTACCCATCATCCATCTATCC ATGCACCCACCCACCATCACCCATCATCCACCCACCCAACCACCCACCAT CACCCATCATCCATCATCCATTCATCCATCCATCTGCCCACCCACCCATC ATCCATTCATCCATCCATCCACCCACCCATCATCACCTATCATCCATCAT CCATTCATCCATCCATCCATCCACCTACCCATCATCACCCATCATCTGTC ATCCATCCATCCATCCACCCACCCACCCATCATCACCCATCACCCATCAT CTATCCAGCCATCCATCCACCCACCCATCATCACCCATCACCCATCATCC ATCCATCCATCCACCCACCCATCATCACCCATCACCCATCATCCATCTAT CCATCCACCCACCCATCATCACCCATCACCCATCATCCATCCATCCATCC ATCCACCCACCCATCATCACCCATCACCCATCATCTATCTATCCATCCAT CCACCCACCCATCATTACCCATCATCCATCTATCCATGCACCCACCCACC ATCACCCATCATCCACCCACCCAACCACCCACCATCACCCATCATCCATC ATCCATTCATCCATCCATCTGCCCACCCACCCATCATCCATTCATCCATC CATCCACCCACCCATCATCACCTATCATCCATCATCCATTCATCCATCCA TCCATCCACCTACCCATCATCACCCATCATCTGTCATCCATCCATCCATC CACCCACCCACCCACCCA	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(787): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATTATAT ATATTATATACATATAATATATATTCTCATATATATTATATATACTCATA TATATAATATATATTCTCATATATATATATTATATATTCTCATATATATA ATATATATATTCTCATATATAATATATATTCTCATATATATAATATATAC TCATATATTATATATATTCTCATATATTATATATATACTCATATATAATG TATATATTCTAATATATAATATATATTTTCTCATTTATATAATATATATT CTCATATATAATATATATTCTCATATATGACATATTATATATATTCTCAT ATATATTATATATTCTCATATATAATATATATTCTCATATAATATATTAT ATATTCTCATATAATATATTATATATGCTCATATAATATATTATATATGC TCATATATAATATATTATATATGCTCATATATAATATATTATATATGCTC ATATATAATATATTATATATGCTCATATATAATATATTATATATGCTCAT ATATAATATATTATATATGCTCATATATAATATATTATATATGCTCATAT AATATATTATATATGCTCATATATAATATATTATGTATGCTCATATATAA TATATTATGTATGCTCATATATAATATATTATGTATGCTCATATATAATA TATTATGTATGAGCATATATAATATATTATGTATGAGCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01884.hp2 HG02965.hp2 others(9): Show HG01175.hp2 HG01884.hp2 HG02965.hp2 HG03139.hp2 HG03453.hp2 NA18522.hp2 NA18948.hp1 NA18979.hp2 NA18980.hp2 NA19012.hp1 NA19067.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0050 others(1): Show a0001c0001t0002 a0001c0001t0020 a0001c0001t0050 a0001c0001t0062	a0001c0001t0002g0000 a0001c0001t0020g0000 a0001c0001t0050g0000 others(1): Show a0001c0001t0002g0000 a0001c0001t0020g0000 a0001c0001t0050g0000 a0001c0001t0062g0000	12	416	0.0289	794	c.10 others(807): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGAGCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TATATAATATATTATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCATATATAATATATTATATATGAGCATATATA ATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATTATATGAGCATATATAATATAT TATATGAGAATATATAATATATTATATGAGAATATATATTATATATGAGA ATATATAATATATATGAGAATATATATAATATGTCATATATGAGAATATA TATTATATATGAGAATATATATTATATAAATGAGAAAATATATATTATAT ATTAGAATATATACATTATATATGAGTATATATATAATATATGAGAATAT ATATAATATATGAGTATATATTATATATATGAGAATATATATTATATATG AGAATATATATATTATATATATGAGAATATATAATATATATATATGAGAA TATATATTATATATATGAGTATATATAATATATATGAGAATATATATTAT ATGTATATAATATATATAATATATAATATATAATATATAATATATACATA TATACATATAATATATAAACATATAATATATAATATATACATGTAATATA TATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
C4orf50_chr4_5954375_6023431	6004599	A A	ATGATGGT others(787): Show ATGATGGTGACGGTGATGATGTGATGGTGATGATGGTGATGATGGTGATG GTGATGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGAT GGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGATGATGTGATGGTGATGATGATGGTGATGGTGATGATGGTGATGGTGA TGATGGTGATGGTGGTGATGATGATGGTGATGTGATGGTAATGGTGATGA TGGTGATGGTGATGATGATGTGGTGGTGATGGTGATGCTGATGATGGTGA TGATGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGATATTGATGGTGATGATATTGATGGT GATGATGGTGATGGTGATGATGTGATGGTGATGATGGTGATGATGGTGAT AGTTATGATGGTGATGGTGATGATGTTGATGATGGTGATGATGGTGATGA TGGTGATGGTGATGATGTGATGGTGATGATAGTGATGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGATGGTGATGATGGTGATGATGGTGATGAT GGTGATGGTGATGATGGTGATGGTGATGATGACGGTGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGGAGATGGAGATGTTGGTGATGATG GTGATGGTGGTGATGATGTGATGGTAATGGTGATGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG03710.hp2 others(1): Show HG00544.hp1 HG00597.hp1 HG03710.hp2 NA18970.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0084 a0004c0003 a0001c0001 a0001c0084 a0004c0003	a0001c0001t0000 a0001c0084t0000 a0004c0003t0000 a0001c0001t0000 a0001c0084t0000 a0004c0003t0000	a0001c0001t0000g0096 a0001c0001t0000g0205 a0001c0084t0000g0095 others(1): Show a0001c0001t0000g0096 a0001c0001t0000g0205 a0001c0084t0000g0095 a0004c0003t0000g0238	4	346	0.0116	794	c.963 others(811): Show c.963+3396_963+3397insCCATCACCATCATCACCATTACCATCAC ATCATCACCACCATCACCATCATCACCAACATCTCCATCTCCATCACCAT CACCATCATCACCATCACCATCATCACCATCACCGTCATCATCACCATCA CCATCATCACCATCACCATCATCACCATCATCACCATCATCACCATCATC ACCATCACCATCATCACCATCACCATCATCACCATCATCACCATCACCAT CACCATCATCACCATCACCATCATCACCATCATCACTATCATCACCATCA CATCATCACCATCACCATCATCACCATCATCACCATCATCAACATCATCA CCATCACCATCATAACTATCACCATCATCACCATCATCACCATCACATCA TCACCATCACCATCATCACCATCAATATCATCACCATCAATATCATCACC ATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCACTAT CATCACCATCACCATCATCACCATCATCAGCATCACCATCACCACCACAT CATCATCACCATCACCATCATCACCATTACCATCACATCACCATCATCAT CACCACCATCACCATCATCACCATCACCATCATCACCATCACCATCATCA TCACCATCACATCATCACCATCACCATCATCACCATCACCATCATCACCA TCATCACTATCATCACCATCACCATCATCACCATCATCACCATCATCAAC ATCATCACCATCATCACCATCACCATCATCACCATCATCACCATCACATC ATCACCGTCACCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(787): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTA GACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACG GCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGG CATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG TCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGA GTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	338	0.0030	794	c.300 others(811): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAG TAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA CGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGAC GGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGT AGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar

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Search Results (Total: 8931 hits)