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(790): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCACCCCACCCACCGA CCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGT AGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGA GTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGAT GACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAAATTAAAAAAAG GCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTA GAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTC AAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGA GCCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGAT GAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCA ATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCAC TGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACT CTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCC TCAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACT CAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG04184.hp1 NA18953.hp2 others(1): Show HG00408.hp2 HG04184.hp1 NA18953.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0228 a0001c0001t0001g0265 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0228 a0001c0001t0001g0265 a0001c0001t0001g0269	4	382	0.0105	797	c.65 others(808): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC CACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTG GTGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGAT CGCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTG CACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAA AAAAATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTT TTATTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCT TGAACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTG GGATTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTAT TATCTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAAC TCCTGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATT ACAGGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTA GCTGGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGAC CAAACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTC CATTTATATGAAACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCA CACCTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(790): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCCACCCCACCCACCG ACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTG TAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGG AGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGA TGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAATTAAAAAAAG GCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTA GAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTC AAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGA GCCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGAT GAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCA ATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCAC TGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACT CTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCC TCAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACT CAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01361.hp2 HG01928.hp1 others(13): Show HG00733.hp1 HG01361.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 NA18522.hp1 NA18963.hp1 NA18970.hp2 NA19003.hp2 NA19056.hp1 NA19064.hp1 NA19072.hp2 NA19081.hp1 NA19086.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0026 others(12): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0264 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0291	16	382	0.0419	797	c.65 others(808): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC CCACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGT GGTGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGA TCGCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACT GCACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAA AAAAATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTT TTATTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCT TGAACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTG GGATTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTAT TATCTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAAC TCCTGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATT ACAGGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTA GCTGGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGAC CAAACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTC CATTTATATGAAACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCA CACCTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(790): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCCCCACCCCACCCAC CGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACC TGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCA GGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTG GATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAATTAAAAAAAG GCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTA GAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTC AAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGA GCCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGAT GAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCA ATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCAC TGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACT CTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCC TCAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACT CAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18941.hp2 NA18950.hp1 others(5): Show NA18747.hp2 NA18941.hp2 NA18950.hp1 NA18953.hp1 NA18971.hp1 NA18998.hp2 NA19060.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0030 a0002c0002t0003 a0002c0002t0030	a0002c0002t0003g0013 a0002c0002t0003g0178 a0002c0002t0003g0180 others(4): Show a0002c0002t0003g0013 a0002c0002t0003g0178 a0002c0002t0003g0180 a0002c0002t0003g0191 a0002c0002t0003g0195 a0002c0002t0003g0199 a0002c0002t0030g0192	8	382	0.0209	797	c.65 others(808): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC CCCCACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGT GTGGTGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAG GATCGCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCA CTGCACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAA AAAAATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTT TTATTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCT TGAACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTG GGATTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTAT TATCTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAAC TCCTGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATT ACAGGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTA GCTGGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGAC CAAACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTC CATTTATATGAAACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCA CACCTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(790): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCTCCCACCCCACCCAC CGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACC TGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCA GGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTG GATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAATTAAAAAAAG GCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTA GAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTC AAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGA GCCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGAT GAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCA ATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCAC TGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACT CTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCC TCAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACT CAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0293 a0002c0002t0025g0293	1	382	0.0026	797	c.65 others(808): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC TCCCACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGT GTGGTGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAG GATCGCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCA CTGCACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAA AAAAATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTT TTATTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCT TGAACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTG GGATTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTAT TATCTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAAC TCCTGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATT ACAGGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTA GCTGGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGAC CAAACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTC CATTTATATGAAACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCA CACCTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(790): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCC TCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTC CTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCT CCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTC TCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0204 a0001c0002t0029g0204	1	270	0.0037	797	c.162 others(818): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTC CACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTC TTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCC CCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCC CCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCC TTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCT CCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNST_chr1_246561456_246673595	246642837	G G	GGTGGTGG others(790): Show GGTGGTGGTGATGATGATGATGATGGTGATGATGATGATGATGGTGATGA TGATGGTGATGATGGTGATGATGATGGTGATGATGAGGATGATGATGATG GTGATGATGATGGTGATGGTGATGATGACGGTGATGATGGTGATGGTGAT GATGGTGATGATGAGGATGATGATGGTGATGATGATGATGGTGATGATGA GGATGATGATGGTGATGATGATGATGGTGATGATGGTGATGGTGATGATG GTGATGAGGATGATGATGGTGATGATGATGGTGATGATGATGATGGTGGT GATGGTGATGGTGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGATGATGATGATGGTGATGATGATGGTGGTGATG ATGGTGATGGTGATGGTGATGATGGTGATGATGGTGATGATGATGATGAT GGTGATGATGGTGGTGATGATGATGGTGATGATGGTGATGGTTATGATGG TGATGGTGATGATGAGGATGATGATGGTGATGGTGATGATAAGGATGATG ATGATGATGAGGATGATGGTGGTGATGATGATGGTGATGACGATGATGGT GATGATGATGGTGATGACGATGATGGTGATTGTGATGATGGTGATGACGA TGATGAGGATGGTGATGATGGTGATGATGATGGTGAGGATGGTGATGATG ATGGTGATGATGAGGATGGTGATGATGGTGATGATGATGGTGATTATGAT GATGGTGATGATGGTGATGATGATGGTGATGATGATGATGGTGATGAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	320	0.0031	797	c.937 others(812): Show c.937+801_937+802insTGGTGGTGATGATGATGATGATGGTGATGA TGATGATGATGGTGATGATGATGGTGATGATGGTGATGATGATGGTGATG ATGAGGATGATGATGATGGTGATGATGATGGTGATGGTGATGATGACGGT GATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGA TGATGATGGTGATGATGAGGATGATGATGGTGATGATGATGATGGTGATG ATGGTGATGGTGATGATGGTGATGAGGATGATGATGGTGATGATGATGGT GATGATGATGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGATGGTGATGATGATGATGATGGTG ATGATGATGGTGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGAT GGTGATGATGATGATGATGGTGATGATGGTGGTGATGATGATGGTGATGA TGGTGATGGTTATGATGGTGATGGTGATGATGAGGATGATGATGGTGATG GTGATGATAAGGATGATGATGATGATGAGGATGATGGTGGTGATGATGAT GGTGATGACGATGATGGTGATGATGATGGTGATGACGATGATGGTGATTG TGATGATGGTGATGACGATGATGAGGATGGTGATGATGGTGATGATGATG GTGAGGATGGTGATGATGATGGTGATGATGAGGATGGTGATGATGGTGAT GATGATGGTGATTATGATGATGGTGATGATGGTGATGATGATGGTGATGA TGATGATGGTGATGATG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL4A1_chr13_110143963_110312157	110255668	C C	CAGGAAGG others(790): Show CAGGAAGGGAGGGGGCAGGCAAGAAGGGAAGGGGGAAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGG GGCAGGCAGGAAGGGAGGGGGCAGGCAAGAAGGGAGGGGGAAGGCAGGAA GGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA AGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0005 a0005	a0005c0034 a0005c0034	a0005c0034t0001 a0005c0034t0001	a0005c0034t0001g0165 a0005c0034t0001g0165	1	344	0.0029	797	c.85- others(814): Show c.85-12935_85-12934insTCCCCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTGC CCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCTT GCCTGCCCCCTCCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COMMD9_chr11_36267292_36294424	36287061	A A	ACTATGTA others(790): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACATGCTAT GTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGT ATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTAC ATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATAC TACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCA TATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACA TGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATA GTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	448	0.0022	797	c.51+ others(812): Show c.51+2300_51+2301insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTATACATACTATATGATGTACATA GCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACT ATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCAT GTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATAT GATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAG TATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATG TACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATA CATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACA TAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATA CTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287093	A A	ACTATGTA others(790): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACATGCTATGTACATCATATAGTATGTATACTACATGCTAT GTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGT ATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTAC ATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATAC TACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCA TATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACA TGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATA GTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATG	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18966.hp1 NA19074.hp1 others(1): Show HG00597.hp2 NA18966.hp1 NA19074.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0034 a0001c0001t0002g0110 a0001c0001t0002g0111	4	448	0.0089	797	c.51+ others(812): Show c.51+2268_51+2269insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTATACATACTATATGATGTACATAGCATGTAGTATACATACT ATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCAT GTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATAT GATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAG TATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATG TACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATA CATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACA TAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATA CTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287093	A A	ACTATGTA others(790): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACATGCTATGTACATCATATAGTATGT ATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTAC ATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATAC TACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCA TATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACA TGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATA GTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	448	0.0022	797	c.51+ others(812): Show c.51+2268_51+2269insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTATACA TACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATA GCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACT ATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCAT GTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATAT GATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAG TATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATG TACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATA CATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACA TAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATA CTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287093	A A	ACTATGTA others(790): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTA TGTATACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTAC ATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATAC TACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCA TATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACA TGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATA GTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18983.hp1 NA19010.hp2 NA18943.hp1 NA18983.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0124 a0001c0001t0002g0032 a0001c0001t0002g0124	3	448	0.0067	797	c.51+ others(812): Show c.51+2268_51+2269insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTATACATACTATATGATGTACATAGCATGTAGTATACA TACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATA GCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACT ATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCAT GTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATAT GATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAG TATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATG TACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATA CATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACA TAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATA CTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
DIP2C_chr10_269201_694668	556272	A A	ACCCCTCC others(790): Show ACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCCACA GCCGGATCCCAGGACAGCACCCACCCACCCCCTCCCACAGCCGGATCCGA GGACGGCACCCACCCACCCCCTCCCACAGCCGGATCCCAGGACAGCACCC ACCCACCCCCCCTCCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCC ACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCC CAGGACAGCACCCACCCACCCCCCCTCCCACAGCCGGATCCGAGGACAGC ACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCC CACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATC CCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCCGAGGACAGCAC CCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCA CAGCCAGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCC AGGACGGCACCCACCCACCCCCTCCCACAGCCGGATCCCAGGACGGCACC CACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTC CCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGAT CCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCA CCCACCCACCCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	88	0.0114	797	c.86- others(814): Show c.86-69743_86-69742insGTGGGTGGGTGCCGTCCTGGGATCCGGC TGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGG TGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCC GTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCC GGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGG GGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGT GCCGTCCTGGGATCTGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGA TCCGGCTGTGGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGG GTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGC TGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATC CGGCTGTGGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGG GGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTG CTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGCTGTCCTCGGATCCGG CTGTGGGAGGGGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAG GGGGTGGGTGGGTGCCGTCCTCGGATCCGGCTGTGGGAGGGGGTGGGTGG GTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGG GATCCGGCTGTGGGAGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
FKBP2_chr11_64236095_64249132	64237115	G G	GGGAGAGG others(790): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGACAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	332	0.0030	797	c.-40 others(808): Show c.-4022_-4021insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGACAGAC	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		3979		chr11	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(790): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGTATATATGGAACATATATACATATATGGAA CCAATACATACATGGAACATATATATGTGGAACCAATACATACATGGAAC ATATATATGTGGAACCAATACATACATGGAACATATATATGTGGAACCAA TACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATAT ATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATCTGG AACCAATACATATACGGAACATATATATCTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATATGCAACATATATATGTGGAACCAATA CATATATGCAACATATATATGTGGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0191 a0002c0002t0002g0191	1	323	0.0031	797	c.-36 others(808): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGGAACCAATACATACATGGAACATATATATGTGGAACCA ATACATACATGGAACATATATATGTGGAACCAATACATACATGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATCTGGAACCAATACATATACGGAACATATATATCTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATATGCAACATATA TATGTGGAACCAATACATATATGCAACATATATATGTGGAACCAATACAT ATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(790): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGTATATATGGAACATATATACATATATGGAA CCAATACATACATGGAACATATATATGTGGAACCAATACATACATGGAAC ATATATATGTGGAACCAATACATACATGGAACATATATATGTGGAACCAA TACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATAT ATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATCTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATATGCAACATATATATGTGGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0221 a0002c0004t0002g0221	1	323	0.0031	797	c.-36 others(808): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGGAACCAATACATACATGGAACATATATATGTGGAACCA ATACATACATGGAACATATATATGTGGAACCAATACATACATGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATCTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATGTGGAACCAATACATATATGCAACATATATATGTGGAACCAATACAT ATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(790): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGTATATATGGAACATATATACATATATGGAA CCAATACATACATGGAACATATATATGTGGAACCAATACATACATGGAAC ATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAA TACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATAT ATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATCTGGAACC AATACATATACGGAACATATATATCTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02683.hp1 HG01106.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	2	323	0.0062	797	c.-36 others(808): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGGAACCAATACATACATGGAACATATATATGTGGAACCA ATACATACATGGAACATATATATGTGGAACCAATACATATACGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATCTGGAACCAATACATATACGGAACATATATATCTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACAT ATACGGAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(790): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGA GGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAG GGAGGACGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGA GGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	204	0.0049	797	c.978 others(814): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA TGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG ATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGC AGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGAAACGGGCAGG GAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGG AGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCA AGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(790): Show GGGGCAGGGAGGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAG AGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGG CAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAG GGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGG CAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	204	0.0049	797	c.978 others(814): Show c.978-2481_978-2480insGCAGGGAGGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGCAGG GAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGA GACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACG GGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGG AGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCA AGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQSEC3_chr12_61767_183455	163272	C C	CCCTCCCT others(790): Show CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAC CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAA CCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCC CTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCC CCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAG AACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02040.hp1 HG02015.hp1 HG02040.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0044 a0001c0003t0001g0088 a0001c0003t0001g0044 a0001c0003t0001g0088	2	282	0.0071	797	c.258 others(814): Show c.2584-202_2584-201insGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCC TCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGA CCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCC CTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGA ACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCC CCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCG GAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTC CCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGC CCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTC CACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTC CCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTC CTCCCTCCACAGAACCGGA	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163272	C C	CCCTCCCT others(790): Show CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAA CCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCC CTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCC CCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAG AACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02273.hp1 HG01496.hp2 HG02273.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0141 a0001c0003t0001g0172 a0001c0003t0001g0141 a0001c0003t0001g0172	2	282	0.0071	797	c.258 others(814): Show c.2584-202_2584-201insGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCC TCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCC CTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGA ACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCC CCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCG GAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTC CCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGC CCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTC CACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTC CCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTC CTCCCTCCACAGAACCGGA	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163272	C C	CCCTCCCT others(790): Show CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAA CCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCC CTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCC CCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAG AACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01934.hp1 HG02040.hp2 others(3): Show HG01346.hp1 HG01934.hp1 HG02040.hp2 HG02129.hp1 NA18943.hp1 NA18948.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0001 a0001c0003 a0001c0004 a0002c0001	a0001c0003t0001 a0001c0003t0033 a0001c0004t0001 others(1): Show a0001c0003t0001 a0001c0003t0033 a0001c0004t0001 a0002c0001t0001	a0001c0003t0001g0086 a0001c0003t0001g0111 a0001c0003t0001g0126 others(3): Show a0001c0003t0001g0086 a0001c0003t0001g0111 a0001c0003t0001g0126 a0001c0003t0033g0110 a0001c0004t0001g0109 a0002c0001t0001g0158	6	282	0.0213	797	c.258 others(814): Show c.2584-202_2584-201insGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCC TCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCC CTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGA ACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCC CCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCG GAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTC CCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGC CCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTC CACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTC CCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTC CTCCCTCCACAGAACCGGA	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(790): Show CGCCCCCACAGCCGCCCCCCCCCCACAGCCGCCCCCCTCACAGCCACCCC CCCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACACCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACA GCCACCCCCCACAGCCACCCCCCCCACAGCCGCCCCCCCACAGCCACCCC CCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCTCCACAG CCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCC CCACAGCCACCCCCCTCCACAGCCACCCCCCCACAGCCGCCCCCCACAGC CGCCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCA CAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCC CCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCACAGCCGC CCCCCACAGCCACCCCCCCAAAGCCACCTCCCACAGCCATCCCCCCACAG CCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCATCCCCCCA CAGCCGCCCCCACAGCCACCCCCCCCACAGCCACCCCCCACAGCCGCCCC CCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0296 a0001c0007t0001g0296	1	312	0.0032	797	c.-41 others(812): Show c.-41+629_-41+630insCCCCCACAGCCGCCCCCCTCACAGCCACCC CCCCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCC CCACAGCCGCCCCCCACAGCCACACCCCCCACAGCCACCCCCCCACAGCC ACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCAC AGCCACCCCCCACAGCCACCCCCCCCACAGCCGCCCCCCCACAGCCACCC CCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCTCCACA GCCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCC CCCACAGCCACCCCCCTCCACAGCCACCCCCCCACAGCCGCCCCCCACAG CCGCCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCC ACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCC CCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCACAGCCG CCCCCCACAGCCACCCCCCCAAAGCCACCTCCCACAGCCATCCCCCCACA GCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCATCCCCCC ACAGCCGCCCCCACAGCCACCCCCCCCACAGCCACCCCCCACAGCCGCCC CCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTG CCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(790): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATG GGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGAT GGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGAT GGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGA TGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGCGACGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGG GGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	375	0.0027	797	c.-22 others(808): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGG GAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGG GGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGG GGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGTCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGG AATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(790): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGA CGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACG GGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGG TGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTG AGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCA CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCACGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGAC GGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCACGGGATGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0271 a0001c0010t0001g0271	1	294	0.0034	797	c.153 others(816): Show c.1530-3001_1530-3000insTCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGAGACACCACTGCACACCCATCCCGTGACACCACGCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACGCACACCCG TCCCGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGTGACACCACGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCAC TGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTC ACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTC CCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGA GACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACA CCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LOC114841035_chr11_64236095_64249132	64237115	G G	GGGAGAGG others(790): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGACAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	797	c.-41 others(808): Show c.-4165_-4164insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGACAGAC	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3979		chr11	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(790): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCACTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02040.hp2 HG03704.hp1 others(7): Show HG00140.hp1 HG02040.hp2 HG03704.hp1 HG04199.hp1 NA18954.hp2 NA19056.hp1 NA19066.hp2 NA19086.hp2 NA19090.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0004t0002 a0001c0004t0006 others(3): Show a0001c0001t0001 a0001c0004t0002 a0001c0004t0006 a0001c0004t0009 a0003c0005t0002 a0003c0005t0009	a0001c0001t0001g0174 a0001c0001t0001g0204 a0001c0001t0001g0218 others(7): Show a0001c0001t0001g0174 a0001c0001t0001g0204 a0001c0001t0001g0218 a0001c0001t0001g0243 a0001c0004t0002g0217 a0001c0004t0006g0194 a0001c0004t0009g0209 a0003c0005t0002g0084 a0003c0005t0002g0126 a0003c0005t0009g0073	10	296	0.0338	797	c.368 others(814): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGTGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGT AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTAT GTAGTAAGTAAGTAAGTGGCCCGGTATGTAGTAAGTACGTGGCCCGGGTA TGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGG TATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCG GGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(790): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0040 a0002c0003t0002g0040	1	296	0.0034	797	c.368 others(814): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGT AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTAT GTAGTAAGTAAGTAAGTGGCCCGGTATGTAGTAAGTACGTGGCCCGGGTA TGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGG TATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCG GGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(790): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCAGAGGAGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGTGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	246	0.0041	797	c.171 others(814): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCTGGCAGAGGAGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGG TGCCCCTCACCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCGCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCGCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCGCCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGC TGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCC GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCG GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCT GGCGGGGGGCTGACCCCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579111	T T	TCACCACC others(790): Show TCACCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCAC CACCACCACCACCACCACCATCACCACCACCACCCTTCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCAC CATCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCATCACCACCACCATCACCAT CACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCAT CACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCA CCACCATCACCGCCACCACCACCATCACCACCACCGCCACCACCACCATC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCAC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0227	1	362	0.0028	797	c.391 others(812): Show c.391+618_391+619insCCACCACCACCACCACCACCATCACCACCA CCACCCTTCACCACCACCACCACCACCACCACCATCACCACCACCACCCT TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCATCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCA CCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCACC ACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCATCACCACCACCACCATCACCACCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCAC CACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCATCACCACCACCACCATCACCGCCACCACCACCATCACCACCACCG CCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCATCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(790): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CTTCCCTTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCT CCCCCTCACTTCCCCTCTCCTCCCCTCCTCTCCCCTCCTTCCCCTCTCCT CCCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCTCTCTCCTCCGCTCCCCT CCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCT CTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCT CCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTT CCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCT CCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCT CCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCT CTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTCCTCT CCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCT CCCCTCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCT CCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0118 a0001c0006t0002g0118	1	318	0.0031	797	c.-49 others(808): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCAGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGAGGAGAGGA GGGGAGGGGAGGGGAGGAGAGGGGAAGGAGGGGAGAGGAGGGGAGGAGAG GGGAAGTGAGGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGA GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAAGGGAAGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAG GAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(790): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CTTCCCTTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCT CCCCTCACTTCCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCT CCCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCTCTCTCCTCCGCTCCCCT CCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCT CTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCT CCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTT CCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCT CCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCT CCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCT CTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTCCTCT CCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCT CCCCTCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCT CCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCATCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0079 a0001c0001t0004g0079	1	318	0.0031	797	c.-49 others(808): Show c.-4998_-4997insAGGATGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCAGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGAGGAGAGGA GGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGAGA GGGGAAGTGAGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGA GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAAGGGAAGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAG GAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(790): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CTTCCCTTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCT CCCCTCACTTCCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCT CCCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCTCTCTCCTCCGCTCCCCT CCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCT CTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCT CCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTT CCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCT CCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCT CCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCT CTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTCCTCT CCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCT CCCCTCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCT CCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02886.hp1 HG02970.hp1 others(1): Show HG02145.hp2 HG02886.hp1 HG02970.hp1 NA18522.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0027 a0001c0001 a0012c0027	a0001c0001t0002 a0001c0001t0013 a0012c0027t0004 a0001c0001t0002 a0001c0001t0013 a0012c0027t0004	a0001c0001t0002g0013 a0001c0001t0013g0095 a0012c0027t0004g0120 a0001c0001t0002g0013 a0001c0001t0013g0095 a0012c0027t0004g0120	4	318	0.0126	797	c.-49 others(808): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCAGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGAGGAGAGGA GGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGAGA GGGGAAGTGAGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGA GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAAGGGAAGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAG GAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(790): Show AAGGGGGGAAGGGGGGAAGGAGGGGAAGGAGGGGGAAGGAGGGGGAAGGA GGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGAA AAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGAAGGGGGAAAGGGGTGG GGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGGGGGGAAGGGGGGAAGGGGAAAGGGTGGGGGGAAGGGGGGAAGGG GAAAGGGGTGAGGGAAGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGA GGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGAGGGG AGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGA GGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGA GGGAGGGAAGGGAGGGGGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGG GGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGA GTGGAGGGGGAGGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGG AGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGGGAGGGGGAGG GAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	272	0.0037	797	c.250 others(812): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCA CTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCT CCCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCC CCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCC CCTTCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCTTTCCCCTT CCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTT CCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCGCCCCTTTTC CCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCC TCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCTCC TTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(790): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGT GGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAA AGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAA GGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGG ATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGCGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAG GGGAGGGGGGAGGGGGAGGGGGGAGGGGGGGGAGGGGGGAGGGGGAGGGG AGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAG AGGGAGGGAAGGGAGGGGGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGG GGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGG AGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGG AGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGGGAGGGGGAGG GAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	272	0.0037	797	c.250 others(812): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTC CCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCCCCTCCCCC CTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCGCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTT CCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCC CCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCC CCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCC CCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCT CCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCC TTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(790): Show GTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGT GGTGGTGGTGGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAG TAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGCGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGATGGTGGTGGTGGCGGTGGTGGTGGTGGCGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGCGGCGATGGTG GTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTGGCGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGCGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGG TGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTAGTCGTGGTGG TAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTG CTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0199 a0001c0001t0005g0200	2	384	0.0052	797	c.160 others(814): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACTACTGCCAC CGCCGCCACCATCACCACCACCACCATCACCACCATCACCACCACCACCA CCACCACCACCACCGCCACCACCACCATCACCACCATCACCACCACCACC ACCACCACCACCACCGCCACCACCACCATCACCACCACCACCACCATCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACTACTGCCACC GCCGCCACCATCACCACCACCACCATCGCCGCCACCACCACCATCACCAC CATCACCACCACCACCACCATCACCGCCACCACCACCACCGCCACCACCA CCATCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCGCCACCATCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACTACTGCCACCGCCGCCACCATCACCACCACCA CCATCGCCGCCACCACCACCACCACCACCATCACCACCATCACCACCATC ACCACCATCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYRIP_chr3_39804609_40265321	40203779	T T	TTATATAG others(790): Show TTATATAGTATATATGTGATATATTTATATATAAATATATGTGATACATT TATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATAAATATTTATATTTTATA TATTTATATATTTTATATATTTATATATAAATATTTATATTTTATATATT TATATATTAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATTTTATGATTTTATAAAAT ATATAATTTATATAATTTATAAATTATATAATTTATATATTATATATAAT ATGTTTATATTAAATATTATATATTATATATTATATATTATATATTTATA TTAAATATTATATATTTATATATTATATATAATATATTTATATTAAATAT TATATATTTATATATTATATATATTTATATTATATATTATATATTTATAT ATTATTTATATTTATATTAAATATTATATATTTATATATTATATATATTT ATATTAAATATTATATATTTATATATTATATATAATATATTTATATTGAA TATTATATATTTATATATTATATATAATATATTTATATTGAATATTATAT ATTTATATATTATATATAATATATTTATATTGAATATTATATATTTATAT ATTATATATAATATATTTATATTGAATATTATATATTTATATATTATATA TAATATATTTATATTGAATATTATATATTTATATATTATATAAATATA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	170	0.0059	797	c.166 others(816): Show c.1666-6072_1666-6071insATAGTATATATGTGATATATTTATAT ATAAATATATGTGATACATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATAAATATTTATATTTTATATATTTATATATTTTATATATTTATATATAA ATATTTATATTTTATATATTTATATATTAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATTTTATGATTTTATAAAATATATAATTTATATAATTTATAAATTATATA ATTTATATATTATATATAATATGTTTATATTAAATATTATATATTATATA TTATATATTATATATTTATATTAAATATTATATATTTATATATTATATAT AATATATTTATATTAAATATTATATATTTATATATTATATATATTTATAT TATATATTATATATTTATATATTATTTATATTTATATTAAATATTATATA TTTATATATTATATATATTTATATTAAATATTATATATTTATATATTATA TATAATATATTTATATTGAATATTATATATTTATATATTATATATAATAT ATTTATATTGAATATTATATATTTATATATTATATATAATATATTTATAT TGAATATTATATATTTATATATTATATATAATATATTTATATTGAATATT ATATATTTATATATTATATATAATATATTTATATTGAATATTATATATTT ATATATTATATAAATATATAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYT1_chr20_64159452_64247253	64176124	T T	TCTCCTGC others(790): Show TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCT CCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0010 a0002c0011t0010	a0002c0011t0010g0081 a0002c0011t0010g0081	1	223	0.0045	797	c.-99 others(816): Show c.-99+11437_-99+11438insGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCGTCTCCTCCTGCAGCATCTTTCCTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(790): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAA GGGGAGGGGGAGAGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGAGGGGGAG GGGAGGAGGGGGAGGAAGGGGAGGGAGGAGGGGAGGAGGGGGAGGGAGGA GGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGG GGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGG AGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAG GGGAGGGGGAGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGAGGGGAGGG GAGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAG GAGGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGAGGGGAGGAGTGGAG AGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAAG GAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGTGC GGGAGGGGAGGGGTGCGGGAGGGGAGGGTAAGGGAAGGGAGGGGAGGGTG GGGGAGGGGAGGGAAGAGGAGTGGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG00639.hp1 HG01074.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0044 a0001c0004t0001g0191 a0001c0004t0001g0044 a0001c0004t0001g0191	2	208	0.0096	797	c.279 others(812): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCC CCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCTCCCTCCC CTTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCCCCCTCCC CTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CTCCCTCTCCCCCTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTC CCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCT TCCCACCCCTCCCTTCTCCTTCCCCCTCCCCTTCCCTCCCTTCCCTTCTC CCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(790): Show AGAAGAGAGGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAA GGAGAAGGGAGGGGTGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGGAGGG GAAGGTGGGAGGGGAAGGGGGAGGGAAGGGGAGGGGAAGGGGGAGGGGAA GGGGAGGGGGAGAGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGAGGGGGAG GGGAGGAGGGGGAGGAAGGGGAGGGAGGAGGGGAGGAGGGGGAGGAGGAG GGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGGG AGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGA GGGGAGGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGG GGAGGGGGAGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGAGGGGAGGGG AGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGG AGGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGAGGGGAGGAGTGGAGA GGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAAGG AAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGTGCG GGAGGGGAGGGGGTGCGGGAGGGGAGGGTAAGGGAAGGGAGGGGAGGGTG GGGGAGGGGAGGGAAGAGGAGTGGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0187 a0001c0004t0001g0187	1	208	0.0048	797	c.279 others(812): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCA CTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCT CCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTC CTTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTC CCCCTCCTCCCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCTCCCCCTCCTCCCCTCCTCCCTCCC CTTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCCCCCTCCC CTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CTCCCTCTCCCCCTCCCCTTCCCCTCCCCCTTCCCCTCCCCTTCCCTCCC CCTTCCCCTCCCACCTTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTT CCCACCCCTCCCTTCTCCTTCCCCCTCCCCTTCCCTCCCTTCCCTTCTCC CCCCTCCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
OR11H4_chr14_20234286_20249349	20237753	A A	ACTATAGT others(790): Show ACTATAGTATATATAGTATATATACTATATGTAATATAGTATATATAGTA TATATATATACTACTATATATATAATAGTATATATAGGATATATATATAC TACTATATATAGTATATATAGTAGATATACTATATATACTATATAGTATA TATAGTATATCTACTATATAGTACATATAGTATATACGGTATATCTACTA TATAGTATATATACTATATCTACTCTATAGTATATATAGTATATATACTA TATAGTATATAGTATATATACTATATATACTATAGAGTATATATAGTATA TATAGTATATATACTATATACAGTATATATAGTATATATAGTATATATAC TATATATAGTATATATAGTATATATACTATATACAGTATATATAGTATAT ATAGTATATACAGTATATATAGTATATATAGTATATACAGTATATATAGT ATATACAGTATATACAGTATATATAGTATATATAGTATATATAGTATATA TACTATATATAGTATATATAGTATATATACTATATATACTATATATAGTA TATATACTATATATACTATATATAGTATATATAGTATATATAGTATATAT ACTCTATATAGTATATATAGTATATATAGTATATATACTCTATAGTATAT ATAGTATATATAGTATATATAGTATATGTACTATATAGTACATATACTAT ATATAGTATATGTACTATATAGTACATATAGTATATATACTATATATACT ATATATATAGTGTATATACTATATATACTATATATATAGTGTATATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	439	0.0023	797	c.-15 others(808): Show c.-1590_-1589insCTATAGTATATATAGTATATATACTATATGTAAT ATAGTATATATAGTATATATATATACTACTATATATATAATAGTATATAT AGGATATATATATACTACTATATATAGTATATATAGTAGATATACTATAT ATACTATATAGTATATATAGTATATCTACTATATAGTACATATAGTATAT ACGGTATATCTACTATATAGTATATATACTATATCTACTCTATAGTATAT ATAGTATATATACTATATAGTATATAGTATATATACTATATATACTATAG AGTATATATAGTATATATAGTATATATACTATATACAGTATATATAGTAT ATATAGTATATATACTATATATAGTATATATAGTATATATACTATATACA GTATATATAGTATATATAGTATATACAGTATATATAGTATATATAGTATA TACAGTATATATAGTATATACAGTATATACAGTATATATAGTATATATAG TATATATAGTATATATACTATATATAGTATATATAGTATATATACTATAT ATACTATATATAGTATATATACTATATATACTATATATAGTATATATAGT ATATATAGTATATATACTCTATATAGTATATATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATAGTATATATAGTATATGTACTATA TAGTACATATACTATATATAGTATATGTACTATATAGTACATATAGTATA TATACTATATATACTATATATATAGTGTATATACTATATATACTATATAT ATAGTGTATATAG	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1532		chr14	TogoVar
PLXNB2_chr22_50269979_50312646	50276351	A A	AGGGTGCA others(790): Show AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGAGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGG GGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTG GGCACGGCCGAGGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCC GTGGATGGAGCCACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGGAG CCACAGGGACGGGCGCTGTGGGCACGGCCGTGGATGGAGCGACAGGGAGG GGCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGG GCAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTGGGCACCGCCCTG GGTGCAGCCGCAGGGAGGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCC ACAGGGAGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGG GGCACTGTGGGCACAGCCGTGGGTGGAGCCACAGGGACGGGCGCTGTGGG CACAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTGG GTGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCAC AGGGACCGGCGCTGTGGGCATGGCCCTGGGTGCAGCCGCAGGGAGGGGGC GCTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGCTGTGGGCA TGGCCGTGGATGGAGTGACAGGGAGGGGGGCGCTGTGGGCACGGCCGT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0141 a0001c0002t0002g0141	1	302	0.0033	797	c.533 others(814): Show c.5337+277_5337+278insACGGCCGTGCCCACAGCGCCCCCCTCCC TGTCACTCCATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCA CCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCAGGGCCA TGCCCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCG CCCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTG TCGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCC ACGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTCCATCCACGGCCATGC CCACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGTGCC CCCCTCCCTGCGGCTGCACCCAGGGCGGTGCCCACAGCGCCGGTCCCTGT GGCTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCC ACGGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCC CACAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCCCC CTCCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGG CTGCACCCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCT CGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCC CACAGCGCCTCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCC CCTCCCTGCGGCTGCACCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50276351	A A	AGGGTGCA others(790): Show AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGG GGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGT GGGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGGCGCTGTGGGCACGGC CGTGGATGGAGCCACAGGGAGGGGGGCGCTGTGGGCACGGCCGTGGGTGG AGCCACAGGGACGGGCGCTGTGGGCACGGCCGTGGATGGAGCGACAGGGA GGGGCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGT GGGCAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTGGGCACCGCCC TGGGTGCAGCCGCAGGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGC CACAGGGAGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGG GGGCACTGTGGGCACAGCCGTGGGTGGAGCCACAGGGACGGGCGCTGTGG GCACAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTG GGTGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCA CAGGGACCGGCGCTGTGGGCATGGCCCTGGGTGCAGCCGCAGGGAGGGGG CGCTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGCTGTGGGC ATGGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0230 a0001c0002t0002g0230	1	302	0.0033	797	c.533 others(814): Show c.5337+277_5337+278insACGGCCGTGCCCACAGCGCCCCCTCCCT GTCACTCCATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCAGGGCCAT GCCCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCGC CCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTGT CGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCA CGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTCCATCCACGGCCATGCC CACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGTGCCC CCTCCCTGCGGCTGCACCCAGGGCGGTGCCCACAGCGCCGGTCCCTGTGG CTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCAC GGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCCA CAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCCCCCC TCCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCCTCCCTGCGG CTGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCAC GGCCGTGCCCACAGCGCCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCC CACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCC CCTCCCTGCGGCTGCACCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50276402	G G	GCAGGGAG others(790): Show GCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGG GGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGG GCACGGCCCGTGGATGGAGCCACAGGGAGGGGGCGCTGTGGGCACGGCCG TGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGCCACAGGGAGG GGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCACAGGGACGGGCGCTGTGG GCACAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTG GGTGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGCGGGTGGAGCCA CAGGGACGGGCGCTGTGGGCACGGCCGTGGGTGGAGCCACAGGGACGGGC GCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCA CGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGA TGGAGCAACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCA GGGATGGGGCGCTGTGGGCACGGCCGTGGATGGAGTGACAGGGAGGGGGC GCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCA CGGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGG TGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGTGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0003 a0002c0013t0003	a0002c0013t0003g0248 a0002c0013t0003g0248	1	302	0.0033	797	c.533 others(814): Show c.5337+226_5337+227insTCACTCCATCCACGGCCGTGCCCACAGC GCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCC TGTCACTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCA CCCACGGCCGTGCCCACAGCGCCCCCTCCCTGTCACTCCATCCACGGCCG TGCCCACAGCGCCCCATCCCTGCGGCTGCACCCACGGCCGTGCCCACAGC GCCCCCTCCCTGTTGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCC TGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCA CCCACGGCCGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGT GCCCACAGCGCCCGTCCCTGTGGCTCCACCCGCAGCCCTGCCCACAGCGC CCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTGT CGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCA CAGCCCTGCCCACAGCGCCCCCTCCCTGTGGCTCCATCCACGGCCGTGCC CACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCCC CCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCCTGTG GCTCCATCCACGGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCC ACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGC CCACAGCGCCCCCTCCCTG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50276402	G G	GCAGGGAG others(790): Show GCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGG GGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGG GCACGGCCGTGGATGGAGCCACAGGGAGGGGGCGCTGTGGGCACGGCCGT GGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCC GCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGCCACAGGGAGGG GGCGCTGTGGGCAGGGCTGTGGGTGGAGCCACAGGGACGGGCGCTGTGGG CACAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTGG GTGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGCGGGTGGAGCCAC AGGGACGGGCGCTGTGGGCACGGCCGTGGGTGGAGCCACAGGGACGGGCG CTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCAC GGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGAT GGAGCAACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAG GGATGGGGCGCTGTGGGCACGGCCGTGGATGGAGTGACAGGGAGGGGGCG CTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCAC GGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGT GCAGCCGCAGGGAGGGGGGCGCTGTGGGCACGGCCGTGGATGGAGTGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0247 a0002c0010t0003g0247	1	302	0.0033	797	c.533 others(814): Show c.5337+226_5337+227insTCACTCCATCCACGGCCGTGCCCACAGC GCCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCC CTGTCACTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGC ACCCACGGCCGTGCCCACAGCGCCCCCTCCCTGTCACTCCATCCACGGCC GTGCCCACAGCGCCCCATCCCTGCGGCTGCACCCACGGCCGTGCCCACAG CGCCCCCTCCCTGTTGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCC CTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGC ACCCACGGCCGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCACGGCCG TGCCCACAGCGCCCGTCCCTGTGGCTCCACCCGCAGCCCTGCCCACAGCG CCCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTG TCGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCC ACAGCCCTGCCCACAGCGCCCCCTCCCTGTGGCTCCATCCACGGCCGTGC CCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCC CCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCCTGT GGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCC ACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGC CCACAGCGCCCCCTCCCTG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PTPN4_chr2_119754922_119989899	119843900	G G	GGACGGGG others(790): Show GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCC ACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGG CTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGAGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	252	0.0040	797	c.139 others(816): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC CGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGAGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAG ACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
RFX2_chr19_5988164_6115500	6070038	G G	GGAATGGG others(790): Show GGAATGGGATGTGGATGGGATAGAATCGGATGTGAATGGGGTGGAATGGG ATATGATGGGGTGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATG GGATGGAATGGGATGTGGATGGGATGGAATGGGATGTGGATGGGATAGAA TCGGATGTGAATGGGGTGGAATGGGATGTGAATGGGGTGGGATGGGATGT GGATGGGGTGGGATGGGATGGGATGTGGATGGGACGGAATGGGATGTGGA TGGGATGTGATGGGATGTGGATGGGGTGGAACGGGATGTGGATGGGGTGG GATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGGAT GTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATAG AGTGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATG GGATGGGATGTGGATAGGATGGGATGGGATGGGATGGGATGGGATGGGAT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGA TGGGATGGGATGGGATGTGGATGGGATGGGATGGAATGGGATGTGGATGG GATGTGATGGGATGTGGATGGGGTGGAATGGGATGTGGATGGGGTGGGAT GAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGGATGTG GATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATAGAGT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18612.hp1 NA18973.hp2 others(5): Show HG02155.hp1 NA18612.hp1 NA18973.hp2 NA18983.hp2 NA19000.hp1 NA19066.hp2 NA19077.hp1 NA19085.hp2	a0003 a0009 a0003 a0009	a0003c0005 a0009c0010 a0003c0005 a0009c0010	a0003c0005t0001 a0009c0010t0001 a0003c0005t0001 a0009c0010t0001	a0003c0005t0001g0046 a0003c0005t0001g0048 a0003c0005t0001g0049 others(5): Show a0003c0005t0001g0046 a0003c0005t0001g0048 a0003c0005t0001g0049 a0003c0005t0001g0050 a0003c0005t0001g0051 a0003c0005t0001g0052 a0003c0005t0001g0197 a0009c0010t0001g0047	8	308	0.0260	797	c.-8- others(814): Show c.-8-22535_-8-22534insTATCCACATCCCATCCCATCCCATCCAC ATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCCATCCCATCC ACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATCCACATCCCT TTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATTCCACCC CATCCACATCCCATCACATCCCATCCACATCCCATTCCATCCCATCCCAT CCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCAC ATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCC ATCCTATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATC CCATCCCATCCCATCCCACTCTATCCACATCCCTTTCCATCCCATCCACA TCTCATCCCACCCCATCCACATCCCATCCTACCCCATCCACATCCCTTTC CATCCCATCCACATCTCATCCCACCCCATCCACATCCCGTTCCACCCCAT CCACATCCCATCACATCCCATCCACATCCCATTCCGTCCCATCCACATCC CATCCCATCCCACCCCATCCACATCCCATCCCACCCCATTCACATCCCAT TCCACCCCATTCACATCCGATTCTATCCCATCCACATCCCATTCCATCCC ATCCACATCCCATTCCATCCCATCCACATCCCATCCCATCCCATCCACAT CCCATCCCACCCCATCATATCCCATTCCACCCCATTCACATCCGATTCTA TCCCATCCACATCCCATTC	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(790): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGA GGGAGGGAGAGGGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGAGGGA GGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGG GAGGGTGGGAGGGAGAGGGAGGCAGGGAGAGGGAGGCAGGGAGACAGGGA GGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGCA GGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGA GGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGG GAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGG GAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGA GGGAGAGGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGAGGGAGA GGGACGCAGGGGGAGAGGTAGGGAGGGAGAGAGGGAGGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0029 a0001c0017t0001g0029	1	132	0.0076	797	c.227 others(816): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCC TCTCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTC CCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTGCCTCCCTGTCTCCCTGCC TCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTG CCTCCCTCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCC TCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCCC TCCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTC CCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCC TCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTC CCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCC TCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTC CCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTC TCCCTCTCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(790): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGA GGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGAGG GAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGG GAGGGTGGGAGGGAGAGGGAGGCAGGGAGAGGGAGGCAGGGAGACAGGGA GGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGCA GGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGA GGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGG GAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGG GAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGA GGGAGAGGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGAGGGAGA GGGACGCAGGGGGAGAGGTAGGGAGGGAGAGAGGGAGGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02055.hp2 HG02129.hp2 others(6): Show HG01106.hp2 HG02055.hp2 HG02129.hp2 HG02451.hp2 HG02559.hp1 HG02735.hp1 HG03834.hp1 NA18957.hp1 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0001c0009 a0001c0013 others(3): Show a0001c0007 a0001c0009 a0001c0013 a0001c0020 a0002c0046 a0002c0049	a0001c0007t0001 a0001c0007t0015 a0001c0009t0001 others(6): Show a0001c0007t0001 a0001c0007t0015 a0001c0009t0001 a0001c0009t0013 a0001c0013t0001 a0001c0020t0001 a0001c0020t0037 a0002c0046t0013 a0002c0049t0003	a0001c0007t0001g0095 a0001c0007t0015g0054 a0001c0009t0001g0058 others(6): Show a0001c0007t0001g0095 a0001c0007t0015g0054 a0001c0009t0001g0058 a0001c0009t0013g0056 a0001c0013t0001g0047 a0001c0020t0001g0073 a0001c0020t0037g0109 a0002c0046t0013g0061 a0002c0049t0003g0127	9	132	0.0682	797	c.227 others(816): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCC TCTCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTC CCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTGCCTCCCTGTCTCCCTGCC TCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTG CCTCCCTCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCC TCTCCCTCCCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTCCCTCCCTCCC ACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTC CCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCC TCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTC CCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCC TCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTC CCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTC TCCCTCTCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(790): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGA GGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGG GAGGGAGGGAGAGGGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGAGG GAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGTGGGAGGGAGAGGGAGGCA GGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGG CAGGGAGACAGGGAGGCAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGA GGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGG GAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGGGAGAGG GAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGA GGGAGAGGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGAGGGAGA GGGACGCAGGGGGAGAGGTAGGGAGGGAGAGAGGGAGGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19012.hp2 NA19007.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0081 a0001c0001t0003g0122 a0001c0001t0001g0081 a0001c0001t0003g0122	2	132	0.0152	797	c.227 others(816): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTC CCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCC TCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCC TGTCTCCCTGCCTCCCTCTCCCTGCCTCCCTCTCCCTCCCACCCTCCCTC TCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTC CCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCC ACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTC CCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCC TCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTC CCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCC TCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTC CCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTC TCCCTCTCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(790): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAA GGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAG GAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGA AAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGG GGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp1 HG02145.hp2 others(2): Show HG01192.hp1 HG01243.hp1 HG02145.hp2 HG02615.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0081 a0001c0001t0010 a0001c0001t0081	a0001c0001t0010g0253 a0001c0001t0010g0256 a0001c0001t0010g0257 others(2): Show a0001c0001t0010g0253 a0001c0001t0010g0256 a0001c0001t0010g0257 a0001c0001t0010g0259 a0001c0001t0081g0260	5	322	0.0155	797	c.597 others(814): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCCTCCCTCCTTCCTT TCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCC CCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCT CCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCC TTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCT CCCTCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCCC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCC TCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTC CCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCT CCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar

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Search Results (Total: 8931 hits)