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
INPP5A_chr10_132532787_132788480	132774881	A A	AGAGGGAC others(909): Show AGAGGGACAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGAGAGGAGGGG CAGGGAGGAGGGGCAGGGAGGAGGGGGGGCAGGGAGGAGGGACGGAGGAG AGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGG CAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAG AGAGGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGC AGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGG AGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG CAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAG GGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG ATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGAGAGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	204	0.0049	916	c.978 others(933): Show c.978-2789_978-2788insAGGGACAGGGAGGAGGGGCAGGGAGGAG AGAGGGGCAGAGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGGC AGGGAGGAGGGACGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAG AGACAGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGAGAGGGGCAGAGAGGAGGGGCAGGGAGAGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGCAGGGAGGAGG GACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGC AGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAG GAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF3B_chr20_32272651_32340011	32322672	T T	TTATATAT others(909): Show TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATATATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0046 a0001c0002t0038g0046	1	242	0.0041	916	c.174 others(935): Show c.1749-4092_1749-4091insATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATATATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KIRREL3_chr11_126418358_127005770	126632686	G G	GCCACAAG others(909): Show GCCACAAGCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGC AGCCCTGGGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACA TGGGTGAGAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGT AAAGCCTGCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGG GAGATAAAAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCT AATATGCAGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAG AAGAAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAAGGA AGGAACGGTAGCGGCTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTT ATGCAGCTCAGATGCCCACTCCATGACAGGTATGCGACCTGGGCATGCAT TCTCTGCAGGGAGACAATTACTGTTGCTGTGTGTGACAGGGTTGATACAT CCTGCTGAAGGTAGGCATCTCTGTGTTTCCTTATTTTGTAATCCTTTCAA GCCTTCTGAATCCAGCCTCTGTCTCCAGCTGTCCAGTTCTGGACAAGCCT GCTACTCAGTGGAACCCCTCGTTTCTACCCCCAGGTGGTCTAGGCACTGA GGCTACAGAGGGCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTAC CGTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTT TCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTC TCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	114	0.0088	916	c.56- others(933): Show c.56-69775_56-69774insGGAGAGAGAGAGAGAGAGAGAAAAGAAG AAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAACGGTAGCGGCTAT CCAAGGTGCGGACAACAGCCCTTATAGCCCTCTGTAGCCTCAGTGCCTAG ACCACCTGGGGGTAGAAACGAGGGGTTCCACTGAGTAGCAGGCTTGTCCA GAACTGGACAGCTGGAGACAGAGGCTGGATTCAGAAGGCTTGAAAGGATT ACAAAATAAGGAAACACAGAGATGCCTACCTTCAGCAGGATGTATCAACC CTGTCACACACAGCAACAGTAATTGTCTCCCTGCAGAGAATGCATGCCCA GGTCGCATACCTGTCATGGAGTGGGCATCTGAGCTGCATAAGGGCTATAA GGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTCCTTCCTTTCCTTC CTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCC TTTCCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCT CTCTCTCTCTCTCCCCACAAGCCTCCTCCACTGCATATTAGCCACTGCTG TAACAAGTATACTAATGTCTCCTCATCAATTTTTATCTCCCAATGCCCAG TATGCAGCAACGATATGAACAAGAGTTCAGGCAGGCTTTACAGGATTCCC ACCAGGTTGGGTGGGAGGTGCGGACATGCTTCTCACCCATGTTTTCTGGC ATTCGCAGTCCCTCACTCAATTGCCCCCTCCCCAGGGCTGCTCTTGGGCA GGACAGAAAAGCAGCTGCACAGGGAAGGAGGCTTGTGG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126632686	G G	GCCACAAG others(909): Show GCCACAAGCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGC AGCCCTGGGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACA TGGGTGAGAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGT AAAGCCTGCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGG GAGATAAAAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCT AATATGCAGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAG AAGAAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAA CGGTAGCGGCTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTTATGCA GCTCAGATGCCCACTCCATGACAGGTATGAGCTGACCTGGGCATGCATTC TCTGCAGGGAGACAATTACTGTTGCTGTGTGTGACAGGGTTGATACATCC TGCTGAAGGTAGGCATCTCTGTGTTTCCTTATTTTGTAATCCTTTCAAGC CTTCTGAATCCAGCCTCTGTCTCCAGCTGTCCAGTTCTGGACAAGCCTGC TACTCAGTGGAACCCCTCGTTTCTACCCCCAGGTGGTCTAGGCACTGAGG CTACAGAGGGCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCG TTCCTTCCTTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCT TCCTTTCCTTCCTTTCCCTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTC TCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01952.hp1 HG01496.hp2 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0107 a0001c0001t0007g0055 a0001c0001t0002g0107 a0001c0001t0007g0055	2	114	0.0175	916	c.56- others(933): Show c.56-69775_56-69774insGGAGAGAGAGAGAGAGAGAGAAAAGAAG AAGAAAAAGAAAGGAAAGGAAGGGAAAGGAAGGAAAGGAAGGAGGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAAGGAAGGAAGGAAGGAAAGGAAGGAACGGTAGCGGCT ATCCAAGGTGCGGACAACAGCCCTTATAGCCCTCTGTAGCCTCAGTGCCT AGACCACCTGGGGGTAGAAACGAGGGGTTCCACTGAGTAGCAGGCTTGTC CAGAACTGGACAGCTGGAGACAGAGGCTGGATTCAGAAGGCTTGAAAGGA TTACAAAATAAGGAAACACAGAGATGCCTACCTTCAGCAGGATGTATCAA CCCTGTCACACACAGCAACAGTAATTGTCTCCCTGCAGAGAATGCATGCC CAGGTCAGCTCATACCTGTCATGGAGTGGGCATCTGAGCTGCATAAGGGC TATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTCCTTCCTTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCC TTTCCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCT CTCTCTCTCTCTCCCCACAAGCCTCCTCCACTGCATATTAGCCACTGCTG TAACAAGTATACTAATGTCTCCTCATCAATTTTTATCTCCCAATGCCCAG TATGCAGCAACGATATGAACAAGAGTTCAGGCAGGCTTTACAGGATTCCC ACCAGGTTGGGTGGGAGGTGCGGACATGCTTCTCACCCATGTTTTCTGGC ATTCGCAGTCCCTCACTCAATTGCCCCCTCCCCAGGGCTGCTCTTGGGCA GGACAGAAAAGCAGCTGCACAGGGAAGGAGGCTTGTGG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126632686	G G	GCCACAAG others(909): Show GCCACAAGCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGC AGCCCTGGGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACA TGGGTGAGAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGT AAAGCCTGCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGG GAGATAAAAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCT AATATGCAGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAG AAGAAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAA GGAACGGTAGCGGCTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTTA TGCAGCTCAGATGCCCACTCCATGACAGGTATGAGCTGACCTGGGCATGC ATTCTCTGCAGGGAGACAATTACTGTTGCTGTGTGTGACAGGGTTGATAC ATCCTGCTGAAGGTAGGCATCTCTGTGTTTCCTTATTTTGTAATCCTTTC AAGCCTTCTGAATCCAGCCTCTGTCTCCAGCTGTCCAGTTCTGGACAAGC CTGCTACTCAGTGGAACCCCTCGTTTCTACCCCCAGGTGGTCTAGGCACT GAGGCTACAGAGGGCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCT ACCGTTCCTTCCTTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCT TCCTTTCCTTCCTTTCCCTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTC TCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0061 a0001c0001t0015g0061	1	114	0.0088	916	c.56- others(933): Show c.56-69775_56-69774insGGAGAGAGAGAGAGAGAGAGAAAAGAAG AAGAAAAAGAAAGGAAAGGAAGGGAAAGGAAGGAAAGGAAGGAGGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAAGGAAGGAAGGAAGGAAAGGAAGGAACGGTAGCGGCTATCC AAGGTGCGGACAACAGCCCTTATAGCCCTCTGTAGCCTCAGTGCCTAGAC CACCTGGGGGTAGAAACGAGGGGTTCCACTGAGTAGCAGGCTTGTCCAGA ACTGGACAGCTGGAGACAGAGGCTGGATTCAGAAGGCTTGAAAGGATTAC AAAATAAGGAAACACAGAGATGCCTACCTTCAGCAGGATGTATCAACCCT GTCACACACAGCAACAGTAATTGTCTCCCTGCAGAGAATGCATGCCCAGG TCAGCTCATACCTGTCATGGAGTGGGCATCTGAGCTGCATAAGGGCTATA AGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTCCTTCCTTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCC TTTCCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCT CTCTCTCTCTCTCCCCACAAGCCTCCTCCACTGCATATTAGCCACTGCTG TAACAAGTATACTAATGTCTCCTCATCAATTTTTATCTCCCAATGCCCAG TATGCAGCAACGATATGAACAAGAGTTCAGGCAGGCTTTACAGGATTCCC ACCAGGTTGGGTGGGAGGTGCGGACATGCTTCTCACCCATGTTTTCTGGC ATTCGCAGTCCCTCACTCAATTGCCCCCTCCCCAGGGCTGCTCTTGGGCA GGACAGAAAAGCAGCTGCACAGGGAAGGAGGCTTGTGG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126632686	G G	GCCACAAG others(909): Show GCCACAAGCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGC AGCCCTGGGGAGGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAAC ATGGGTGAGAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTG TAAAGCCTGCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTG GGAGATAAAAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGC TAATATGCAGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAA GAAGAAGAAAAAGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAA CGGTAGCGGCTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTTATGCA GCTCAGATGCCCACTCCATGACAGGTATGAGCTGACCTGGGCATGCATTC TCTGCAGGGAGACAATTACTGTTGCTGTGTGTGACAGGGTTGATACATCC TGCTGAAGGTAGGCATCTCTGTGTTTCCTTATTTTGTAATCCTTTCAAGC CTTCTGAATCCAGCCTCTGTCTCCAGCTGTCCAGTTCTGGACAAGCCTGC TACTCAGTGGAACCCCTCGTTTCTACCCCCAGGTGGTCTAGGCACTGAGG CTACAGAGGGCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCG TTCCTTCCTTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCT TCCTTTCCTTCCTTTCCCTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTC TCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	114	0.0088	916	c.56- others(933): Show c.56-69775_56-69774insGGAGAGAGAGAGAGAGAGAGAAAAGAAG AAGAAAAAGAAAGGAAAGGAAGGGAAAGGAAGGAAAGGAAGGAGGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAAGGAAGGAAGGAAGGAAAGGAAGGAACGGTAGCGGCT ATCCAAGGTGCGGACAACAGCCCTTATAGCCCTCTGTAGCCTCAGTGCCT AGACCACCTGGGGGTAGAAACGAGGGGTTCCACTGAGTAGCAGGCTTGTC CAGAACTGGACAGCTGGAGACAGAGGCTGGATTCAGAAGGCTTGAAAGGA TTACAAAATAAGGAAACACAGAGATGCCTACCTTCAGCAGGATGTATCAA CCCTGTCACACACAGCAACAGTAATTGTCTCCCTGCAGAGAATGCATGCC CAGGTCAGCTCATACCTGTCATGGAGTGGGCATCTGAGCTGCATAAGGGC TATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTCCTTCCTTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCC TTCCTTTCCTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCTC TCTCTCTCTCTCCCCACAAGCCTCCTCCACTGCATATTAGCCACTGCTGT AACAAGTATACTAATGTCTCCTCATCAATTTTTATCTCCCAATGCCCAGT ATGCAGCAACGATATGAACAAGAGTTCAGGCAGGCTTTACAGGATTCCCA CCAGGTTGGGTGGGAGGTGCGGACATGCTTCTCACCCATGTTTTCTGGCA TTCGCAGTCCCTCACTCAATTGCCCCCCTCCCCAGGGCTGCTCTTGGGCA GGACAGAAAAGCAGCTGCACAGGGAAGGAGGCTTGTGG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
LMF1_chr16_848634_975984	859063	G G	GTGTCTCG others(909): Show GTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCA CGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGTTGTCACGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGG TGTGCAGTGGTGTCTCGGGAGGGGTGTGCAGTGGTGTCTCGGGACGGGTG TGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTG GTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCT CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGA TGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGG TGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGT GCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCA GTGATGTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGG TGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGTGAGTGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	294	0.0034	916	c.153 others(935): Show c.1530-4358_1530-4357insTCACTCACACCCGTCCCGTGACACCA CTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACT CACACCCATCCCGTGACACCACTCACACCCATCCCGAGACACCACTCACA CCCATCCCGTGACACCACTCACACCCATCCCGTGACATCACTGCACACCC ATCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCATC CCGAGACACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCCG AGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCGAGAC ACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACC ACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCAC GCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACACCC GTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCC CGAGACACCACTGCACACCCCTCCCGAGACACCACTGCACACCCGTCCCG TGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGA CAACACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCAC TGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MGAT5B_chr17_76863404_76955393	76925239	T T	TCCCCTCC others(909): Show TCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCCTCCCTCC CCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCTCCCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCTCCCCTCCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CTCCCCCCCCTCCCCTCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCTTCC CTCCCCCCTCCCCCCTTCCCTCCCCCCCTCCCCTCCCCCTCCCCCCTTCC CCTCCCCTCCACCCTCCCCCTCTCCTCCCCTCCCTTCCCCTCCCCTCCCC TCCCTTCCCTCCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCTCCCCTCC CCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATC CCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGC CTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTC CCTTCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCCTC CCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCTCC TCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCTCCCCTCCC TTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCTCCCCACC CTCCCTCCCCACCCCTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0171 a0001c0005t0009g0171	1	278	0.0036	916	c.115 others(933): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCC TCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCT CCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCCTTCCCTCCCCCCTCC CCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCCTCCCCTCCCCCTCCC CCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTCCCTTCCCCTCC CCTCCCCTCCCTTCCCTCCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCT CCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCA TTCCATCCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCC CCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCT TTCCCTCCCTTCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCC TCCCCTCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCC CCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCTC CCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCT CCCCACCCTCCCTCCCCACCCCTCCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(909): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGG GGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGG GGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGGAAGG GGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAG GGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAGGGGACGGGAGGGGAGGG GAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGG AGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAG GGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG GGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGG GGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGG GGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGG GGAGGGAGGAGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGA GGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGGAGTGGAGGGG GAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGA GGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGG AGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	272	0.0037	916	c.250 others(931): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCC CTCCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCC TCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCT CTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCT CTCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCATCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCG TCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCCCC TCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCCTT CCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTC CCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCCTGC CCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTC CCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
OSGIN1_chr16_83948240_83971332	83950683	A A	ACACACGT others(909): Show ACACACGTACACACACATGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACGTACACACACATGCACACATGAGCACAT GTGCACACATGCACATACATACTGGCACACACGTACACACACATGCACAC ATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACACAC ATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACAC GTACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCAC ACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACCG GCACACGTACACACATGCACACATGAACACATGTGCACACGTACACACAC ATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACAC GTACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCAC ACGTACACACACGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACACACATGCATACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGC CCATACACACTGGCACACACGTACACACACATGCACACATGAGCACATGT GCACACATGCACATACACACTGGCACACACGTACACACACATGCACACAT GAGCACATGTGCACACATGCACATACATACCGGCACACGTACACACATGC ACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0063 a0001c0003t0004g0063	1	350	0.0029	916	c.-27 others(927): Show c.-2720_-2719insCACACGTACACACACATGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCA CATGTGCACACATGCACATACATACTGGCACACACGTACATGCACACATG AGCACATGTGCACACATGCACATACATACTGGCACACGTACACACACATG CACACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTA CACACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGG CACACACGTACACACATGCACACATGAGCACATGTGCACACATGCACATA CATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCA CATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACA TGCACATACATACCGGCACACGTACACACATGCACACATGAACACATGTG CACACGTACACACACATGCACACATGAGCACATGTGCACACATGCACATA CATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCA CATACATACTGGCACACGTACACACACGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACACACATGCATACATGAGCACA TGTGCACACATGCACATACATACTGGCACACGTACACGCACACATGAGCA CATGTGCACACATGCCCATACACACTGGCACACACGTACACACACATGCA CACATGAGCACATGTGCACACATGCACATACACACTGGCACACACGTACA CACACATGCACACATGAGCACATGTGCACACATGCACATACATACCGGCA CACGTACACACATGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2556		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950683	A A	ACACACGT others(909): Show ACACACGTACACACACATGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACGTACACACACATGCACACATGAGCACAT GTGCACACATGCACATACATACTGGCACACACGTACACACACATGCACAC ATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACACAC ATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACAC GTACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCAC ACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACCG GCACACGTACACACATGCACACATGAACACATGTGCACACGTACACACAC ATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACAC GTACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCAC ACGTACACACACGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACACACATGCATACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGC CCATACACACTGGCACACACGTACACACACATGCACACATGAGCACATGT GCACACATGCACATACACACTGGCACACACGTACACACACATGCACACAT GAGCACATGTGCACACATGCACATACATACTGGCACACGTACACACATGC ACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0024 a0001c0003t0004g0024	1	350	0.0029	916	c.-27 others(927): Show c.-2720_-2719insCACACGTACACACACATGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCA CATGTGCACACATGCACATACATACTGGCACACACGTACATGCACACATG AGCACATGTGCACACATGCACATACATACTGGCACACGTACACACACATG CACACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTA CACACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGG CACACACGTACACACATGCACACATGAGCACATGTGCACACATGCACATA CATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCA CATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACA TGCACATACATACCGGCACACGTACACACATGCACACATGAACACATGTG CACACGTACACACACATGCACACATGAGCACATGTGCACACATGCACATA CATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCA CATACATACTGGCACACGTACACACACGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACACACATGCATACATGAGCACA TGTGCACACATGCACATACATACTGGCACACGTACACGCACACATGAGCA CATGTGCACACATGCCCATACACACTGGCACACACGTACACACACATGCA CACATGAGCACATGTGCACACATGCACATACACACTGGCACACACGTACA CACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACGTACACACATGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2556		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950727	G G	GCACATAC others(909): Show GCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCAC ACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGT GCACACATGCACATACATACTGGCACACGTACACACACATGCACACATGA GCACATGTGCACACATGCACATACATACTGGCACACACGTACACACACAT GCACACATGAGCACATGTGCACACATGCACATACATAGTGGCACACACGT ACACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGC ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATAC ATACCGGCACACGTACACACATGCACACATGAACACATGTGCACACGTAC ACACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGC ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACGTACACACACGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACACACATGCATACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCAC ACATGCCCATACACACTGGCACACACGTACACACACATGCACACATGAGC ACATGTGCACACATGCACATACACACTGGCACACACGTACACACACATGC ACACATGAGCACATGTGCACACATGCACATACATACCGGCACACGTACAC ACATGCACACATGAACACATGTGCACACGTACACACACATGCACACATGA GCACATGTGCACACGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	350	0.0029	916	c.-26 others(927): Show c.-2676_-2675insCACATACATACTGGCACACACGTACATGCACACA TGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACATGCA CACATGAGCACATGTGCACACATGCACATACATACTGGCACACGTACACA CACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACA CACGTACACACACATGCACACATGAGCACATGTGCACACATGCACATACA TAGTGGCACACACGTACACACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACATACCGGCACACGTACACACATGCACACATGAACA CATGTGCACACGTACACACACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACACACGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACACACATGCATACATG AGCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACA TGAGCACATGTGCACACATGCCCATACACACTGGCACACACGTACACACA CATGCACACATGAGCACATGTGCACACATGCACATACACACTGGCACACA CGTACACACACATGCACACATGAGCACATGTGCACACATGCACATACATA CCGGCACACGTACACACATGCACACATGAACACATGTGCACACGTACACA CACATGCACACATGAGCACATGTGCACACGTA	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2512		chr16	TogoVar
PAIP1_chr5_43521267_43562077	43541207	C C	CTCCGCCT others(909): Show CTCCGCCTCCCGGGTTCACCCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGCTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTTG TAGAGACAGGGTTTCCGGGTTAGCCAGGATGGTCTCGGTCTCCTGACCTC GTGATCCGCCTGCCACGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCAGCCCATTCCAAGTATTTTTATAAAGATACTAGTCGGCCG GGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGG GCGGATCACCAGGTCAGCAGATCGAGACCATCCTGGCTAACACGGTGAAA CTCCGTCTCTACTAAAAATACAAAAAATTAGCCGGCCTGGTGGCGGGCGT GCCTGTAGTCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATGCTGTGAAC GGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCGCCACTGCACTCCAGCC TGGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGATACTAGTTTTTTTCTTACTCATTCCCAAGAGGCCCCTCTTT TCGTATTAAATAAATAAGCTCATTGCCATGTGTTATACACTATCTGATTT TTACTTCATAAATGTATGCCTTCCCCCCAAAATGCTGCAATCCATATGTA ACTAAATGTATTAATCTCTTGTTTTAGGGCCTGTGGGTATCATGTCTTGT TTAAAAGGTCTTTACCATGCCAAGATTTCTGTTTACTTGCCAATTTCCCA CTTAGCATTTATCATTTCAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCC GGGCTCACACTGCAAGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0167 a0001c0001t0006g0167	1	350	0.0029	916	c.734 others(933): Show c.734+1796_734+1797insCCTTGCAGTGTGAGCCCGGATCACACCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGTTGAAATGATAAATGCTAAGTGGGAAATTGG CAAGTAAACAGAAATCTTGGCATGGTAAAGACCTTTTAAACAAGACATGA TACCCACAGGCCCTAAAACAAGAGATTAATACATTTAGTTACATATGGAT TGCAGCATTTTGGGGGGAAGGCATACATTTATGAAGTAAAAATCAGATAG TGTATAACACATGGCAATGAGCTTATTTATTTAATACGAAAAGAGGGGCC TCTTGGGAATGAGTAAGAAAAAAACTAGTATCTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCCAGGCTGGAGTGC AGTGGCGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCGTTCACAGCAT TCTCCTGCCTCAGCCTTCCTAGTAGCTGGGACTACAGGCACGCCCGCCAC CAGGCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTGCTGACCTGGTGATCCGCCCGTCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCCGACTAG TATCTTTATAAAAATACTTGGAATGGGCTGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGTGGCAGGCGGATCACGAGGTCAGGAG ACCGAGACCATCCTGGCTAACCCGGAAACCCTGTCTCTACAAAAAATACA AAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGGGTGAACCCGGGAGGCGGA	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	4/10			chr5	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(909): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTC TCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTC CTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCC CTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTC TCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCC CGTCTTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTC TCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0165 a0001c0001t0004g0165	1	312	0.0032	916	c.306 others(935): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTC TTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC CCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTC TCTCCTCCCGTCTTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCC CTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTC TCCCCTTCTCTCCTCCCCTTCCTCCCCTTCTCTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(909): Show AGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGC CTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAG TTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGG GGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCC TTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAG GGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCT CTGAGTTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0138 a0002c0004t0010g0138	1	340	0.0029	916	c.227 others(933): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCAGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTG TCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCT CTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCC TTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAG GGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGT CCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(909): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATAATATAATATGTAATACACAATATATATTATATAATATGTAATACAC TATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAA TATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTA ATACACAATATATTATATAATAATATGTAATACACAATATATTATATAAT AATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTATA CATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAGTA TATGTAATACATTATACATTATTATATAAGTATATGTAATATATATTATA CATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAGCA TATAATATATAATACATAATACATTATATATAAGCATATAACAATACATA ATACATTATATATAAGCATATAACAATACATAGTACATTATATATAAGCA TATAACAATACATAGTA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0085 a0001c0001t0004g0085	1	220	0.0046	916	c.24+ others(933): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATAATATAATATGTAATACACAATATAT ATTATATAATATGTAATACACTATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAA TATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTA ATACACAATATATTATATAATAATATGTAATACATTATACATTATTATAT AAGTATATGTAATACATTATACATTATTATATAAGTATATGTAATATATA TTATACATTATTATATAAGTATATGTAATACATTATACATTATTATATAA GTATATGTAATATATATTATACATTATTATATAAGTATATGTAATATATA TTATACATTATTATATAAGCATATAATATATAATACATAATACATTATAT ATAAGCATATAACAATACATAATACATTATATATAAGCATATAACAATAC ATAGTACATTATATATAAGCATATAACAATACATAGTA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(909): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATATGTAATACACAATATATA TTATATAATATGTAATACACAATATATATTATATAATATGTAATACACAA TATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATATGTAATACACAATATATTATATAATA TGTAATACACAATATATTATATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATATGTAATACACAATATATTATATAATAATATGTAATACATTATACA TTATTATATAAGTATATGTAATACATTATACATTATTATATAAGTATATG TAATATATATTATACATTATTATATAAGTATATGTAATATATATTATACA TTATTATATAAGCATATAATATATAATACATAATACATTATATATAAGCA TATAACAATACATAATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0104 a0001c0001t0034g0104	1	220	0.0046	916	c.24+ others(933): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATATGTAATACACAATATATATTATATAATATGTAATACACAATATATAT TATATAATATGTAATACACAATATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATATGTAA TACACAATATATTATATAATATGTAATACACAATATATTATATAATATGT AATACACAATATATTATATAATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATATGTAATACACAATATATTATATAA TAATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTAT ACATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAGT ATATGTAATATATATTATACATTATTATATAAGCATATAATATATAATAC ATAATACATTATATATAAGCATATAACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(909): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATATGTAATACACAATATATA TTATATAATATGTAATACACAATATATATTATATAATATGTAATACACAA TATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATATGTAATACACAATATATTATATAATA TGTAATACACAATATATTATATAATATGTAATACACAATATATTATATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAAGTATATGTAATACATTATACA TTATTATATAAGTATATGTAATACATTATACATTATTATATAAGTATATG TAATATATATTATACATTATTATATAAGTATATGTAATATATATTATACA TTATTATATAAGCATATAATATATAATACATAATACATTATATATAAGCA TATAACAATACATAATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0103 a0001c0001t0081g0103	1	220	0.0046	916	c.24+ others(933): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATATGTAATACACAATATATATTATATAATATGTAATACACAATATATAT TATATAATATGTAATACACAATATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATATGTAA TACACAATATATTATATAATATGTAATACACAATATATTATATAATATGT AATACACAATATATTATATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACACAATATATTATATAA GTATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTAT ACATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAGT ATATGTAATATATATTATACATTATTATATAAGCATATAATATATAATAC ATAATACATTATATATAAGCATATAACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RYR1_chr19_38428691_38592564	38546744	G G	GAGTTTGA others(909): Show GAGTTTGAGACCAGCCCGGCCAACATGGTGAAAACCCATCTCTACTAAAA ATACAAAAATTAGCCCGGCGTGGTAGCATGTGCCTGTAATCTCAGCTACT CAGGAGGCTGAGGGAGGAGAATTGCTTGAACCTGGGAGGCAGAAATTACA GTGAGCCGAGATCACGCCATTGCACTCCAGCCCGGGTGACAAAAGCAAAA CTCCAGCTCAAAAAAAAAAAAAAAAAAAAAAATCAGAAGGTTCCCTTTAA AATCAAGATTTCCAGCTTTTCTTGGAAAACTGTAAGCTTCAGTGACCCTG GGTCCACATTCTCACATGGCAAAAATTCGCTGGATTAGATGAAATAACTT AATTATATCAATGTTAGATCTCTAGATGTTCATGATAGCATGGTGATTAT ATTAAACAATGTCCTTGTCTTTTAGGACATAGACACCGAAATGTTTAAGG GTAAAAGGACCGCATGTCTGCAACTTACTCTCAAATTGTTCAGAAAAAAA ATATACAGAGAGAAAGAGAATTTTTTTTTTTTTTTTGAGATGGAGTCTCG CTGTGTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAAG CTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAATAGC TGGGACTACAGGCACCCACCACCATGCCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCACCCGGCCGAGAAAGAAAATGATAAAACAAATGTGATGCAG GGTGCGTCACGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCAGAG GATCTCTTGAGCCCAGC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	218	0.0046	916	c.120 others(935): Show c.12094+233_12094+234insCGGCCAACATGGTGAAAACCCATCTC TACTAAAAATACAAAAATTAGCCCGGCGTGGTAGCATGTGCCTGTAATCT CAGCTACTCAGGAGGCTGAGGGAGGAGAATTGCTTGAACCTGGGAGGCAG AAATTACAGTGAGCCGAGATCACGCCATTGCACTCCAGCCCGGGTGACAA AAGCAAAACTCCAGCTCAAAAAAAAAAAAAAAAAAAAAAATCAGAAGGTT CCCTTTAAAATCAAGATTTCCAGCTTTTCTTGGAAAACTGTAAGCTTCAG TGACCCTGGGTCCACATTCTCACATGGCAAAAATTCGCTGGATTAGATGA AATAACTTAATTATATCAATGTTAGATCTCTAGATGTTCATGATAGCATG GTGATTATATTAAACAATGTCCTTGTCTTTTAGGACATAGACACCGAAAT GTTTAAGGGTAAAAGGACCGCATGTCTGCAACTTACTCTCAAATTGTTCA GAAAAAAAATATACAGAGAGAAAGAGAATTTTTTTTTTTTTTTTGAGATG GAGTCTCGCTGTGTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTC ACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCC CGAATAGCTGGGACTACAGGCACCCACCACCATGCCTGGCTAATTTTTTG TATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCACCCGGCCGAGAAAGAAAATGATAAAACAAATG TGATGCAGGGTGCGTCACGTGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCCAGAGGATCTCTTGAGCCCAGCAGTTTGAGACCAGCC	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	88/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38546744	G G	GAGTTTGA others(909): Show GAGTTTGAGACCAGCCCGGCCAACATGGTGAAAACCCATCTCTACTAAAA ATACAAAAATTAGCCCGGCGTGGTAGCATGTGCCTGTAATCTCAGCTACT CAGGAGGCTGAGGGAGGAGAATTGCTTGAACCTGGGAGGCAGAAATTACA GTGAGCCGAGATCACGCCATTGCACTCCAGCCCGGGTGACAAAAGCAAAA CTCCAGCTCAAAAAAAAAAAAAAAAAAAAAAATCAGAAGGTTCCCTTTAA ACATCAAGATTTCCAGCTTTTCTTGGAAAACTGTAAGCTTCAGTGACCCT GGGTCCACATTCTCACATGGCAAAAATTCGCTGGATTAGATGAAATAACT TAATTATATCAATGTTAGATCTCTAGATGTTCATGATAGCATGGTGATTA TATTAAACAATGTCCTTGTCTTTTAGGACATAGACACCGAAATGTTTAAG GGTAAAAGGACCGCATGTCTGCAACTTACTCTCAAATTGTTCAGAAAAAA AATATACAGAGAGAAAGAGAATTTTTTTTTTTTTTTGAGATGGAGTCTCG CTGTGTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAAG CTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAATAGC TGGGACTACAGGCACCCACCACCATGCCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCACCCGGCCGAGAAAGAAAATGATAAAACAAATGTGATGCAG GGTGCGTCACGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCAGAG GATCTCTTGAGCCCAGC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0009 a0001c0045t0001g0009	1	218	0.0046	916	c.120 others(935): Show c.12094+233_12094+234insCGGCCAACATGGTGAAAACCCATCTC TACTAAAAATACAAAAATTAGCCCGGCGTGGTAGCATGTGCCTGTAATCT CAGCTACTCAGGAGGCTGAGGGAGGAGAATTGCTTGAACCTGGGAGGCAG AAATTACAGTGAGCCGAGATCACGCCATTGCACTCCAGCCCGGGTGACAA AAGCAAAACTCCAGCTCAAAAAAAAAAAAAAAAAAAAAAATCAGAAGGTT CCCTTTAAACATCAAGATTTCCAGCTTTTCTTGGAAAACTGTAAGCTTCA GTGACCCTGGGTCCACATTCTCACATGGCAAAAATTCGCTGGATTAGATG AAATAACTTAATTATATCAATGTTAGATCTCTAGATGTTCATGATAGCAT GGTGATTATATTAAACAATGTCCTTGTCTTTTAGGACATAGACACCGAAA TGTTTAAGGGTAAAAGGACCGCATGTCTGCAACTTACTCTCAAATTGTTC AGAAAAAAAATATACAGAGAGAAAGAGAATTTTTTTTTTTTTTTGAGATG GAGTCTCGCTGTGTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTC ACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCC CGAATAGCTGGGACTACAGGCACCCACCACCATGCCTGGCTAATTTTTTG TATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCACCCGGCCGAGAAAGAAAATGATAAAACAAATG TGATGCAGGGTGCGTCACGTGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCCAGAGGATCTCTTGAGCCCAGCAGTTTGAGACCAGCC	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	88/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38546744	G G	GAGTTTGA others(909): Show GAGTTTGAGACCAGCCCGGCCAACATGGTGAAAACCCATCTCTACTAAAA ATACAAAAATTAGCCCGGCGTGGTAGCATGTGCCTGTAATCTCAGCTACT CAGGAGGCTGAGGGAGGAGAATTGCTTGAACCTGGGAGGCAGAAATTACA GTGAGCCGAGATCACGCCATTGCACTCCAGCCCGGGTGACAAAAGCAAAA CTCCAGCTCAAAAAAAAAAAAAAAAAAAAAATCAGAAGGTTCCCTTTAAA CATGAAGATTTCCAGCTTTTCTTGGAAAACTGTAAGCTTCAGTGACCCTG GGTCCACATTCTCACATGGCAAAAATTCGCTGGATTAGATGAAATAACTT AATTATATCAATGTTAGATCTCTAGATGTTCATGATAGCATGGTGATTAT ATTAAACAATGTCCTTGTCTTTTAGGACATAGACACCGAAATGTTTAAGG GTAAAAGGACCGCATGTCTGCAACTTACTCTCAAATTGTTCAGAAAAAAA ATATACAGAGAGAAAGAGAATTTTTTTTTTTTTTTTGAGATGGAGTCTCG CTGTGTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAAG CTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAATAGC TGGGACTACAGGCACCCACCACCATGCCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCACCCGGCCGAGAAAGAAAATGATAAAACAAATGTGATGCAG GGTGCGTCACGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCAGAG GATCTCTTGAGCCCAGC	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA19067.hp1 HG01175.hp2 NA19067.hp1	a0001 a0001	a0001c0019 a0001c0105 a0001c0019 a0001c0105	a0001c0019t0002 a0001c0105t0001 a0001c0019t0002 a0001c0105t0001	a0001c0019t0002g0218 a0001c0105t0001g0089 a0001c0019t0002g0218 a0001c0105t0001g0089	2	218	0.0092	916	c.120 others(935): Show c.12094+233_12094+234insCGGCCAACATGGTGAAAACCCATCTC TACTAAAAATACAAAAATTAGCCCGGCGTGGTAGCATGTGCCTGTAATCT CAGCTACTCAGGAGGCTGAGGGAGGAGAATTGCTTGAACCTGGGAGGCAG AAATTACAGTGAGCCGAGATCACGCCATTGCACTCCAGCCCGGGTGACAA AAGCAAAACTCCAGCTCAAAAAAAAAAAAAAAAAAAAAATCAGAAGGTTC CCTTTAAACATGAAGATTTCCAGCTTTTCTTGGAAAACTGTAAGCTTCAG TGACCCTGGGTCCACATTCTCACATGGCAAAAATTCGCTGGATTAGATGA AATAACTTAATTATATCAATGTTAGATCTCTAGATGTTCATGATAGCATG GTGATTATATTAAACAATGTCCTTGTCTTTTAGGACATAGACACCGAAAT GTTTAAGGGTAAAAGGACCGCATGTCTGCAACTTACTCTCAAATTGTTCA GAAAAAAAATATACAGAGAGAAAGAGAATTTTTTTTTTTTTTTTGAGATG GAGTCTCGCTGTGTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTC ACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCC CGAATAGCTGGGACTACAGGCACCCACCACCATGCCTGGCTAATTTTTTG TATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCACCCGGCCGAGAAAGAAAATGATAAAACAAATG TGATGCAGGGTGCGTCACGTGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCCAGAGGATCTCTTGAGCCCAGCAGTTTGAGACCAGCC	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	88/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
SLC12A7_chr5_1045384_1117063	1098513	G G	GCCCCCCT others(909): Show GCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATG CCCAGGCCCCCTTTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTG CACACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACC CTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCT AACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCC CTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCAAGC CCCCTTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTGCATGCC CAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCA TGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCTTCTAACCCTC TGCACGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAAC CCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCTTC TAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCC CCTCTAACCTTCTGCACACCCAGCCCCCTTCTAACCCTCTGCTCACCCAG CCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACAC CCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGC ACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCGT CTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTAACC CTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCT AACCCTCTGCACACCCA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0007 a0007	a0007c0033 a0007c0033	a0007c0033t0004 a0007c0033t0004	a0007c0033t0004g0072 a0007c0033t0004g0072	1	118	0.0085	916	c.125 others(933): Show c.125-4266_125-4265insTGGGTGTGCAGAGGGTTAGAGGGGGGCT GGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGGGGGG CTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGACGGTTAGAGG GGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTA GAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGG GTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGAGCA GAGGGTTAGAAGGGGGCTGGGTGTGCAGAAGGTTAGAGGGGGGCTGGGTG AGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAAGGGGGCTG GGTGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGG GCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAA GGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTT AGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAG GGTTAGAGGGGGCCTGGGCGTGCAGAGGGTTAGAAGGGGGCTTGGTGAGC AGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGC GTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCT GGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAG AGGGGGGCTGGGTGTGCAGAGGGTTAAAGGGGGCCTGGGCATGCAGAGGG TTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC31A1_chr9_113216544_113269492	113250305	T T	TAAGAAAA others(909): Show TAAGAAAATGTGGCACATATACACCATGGAATATTATGCAGCCATAAAAA ATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATC ATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTC ACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGA ATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGGTAG CATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCA CCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACAT GTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAGATC ACACCACTGCACTCCAGCCTGGGTGTCAAAGCGAGACCCTGTCTCAGGAA AAAAAAAAAAAAAAAAAAAAGGCTTAATTGATTGAACCAGATTCGAGAAA ACAGTGCGAAATTATAATTTTCTCAATACTGTAAATATTTTTCAATCTTC AGCTTCATTAACTTCTATAATTTGAAATTATCCCAATTATTACCTGACAT GTACTAAAATTCCCTAAAATGGATCTTGAGTAACATTTTCACAGTACGAT AATTTTTCTCTCTGTATATATTTATATAGTCACATATATGCACATACATT ATACAAGCATTACTTTTCTATAACTGTAAGGTCAGAATTTGAAGTTGTGT TTTCTTTATCTTTTTATTTCCAATACTTGGCATCAAGTTGATATTCATTA GAAGTAAAGGAGGAAGGAAATGAATAATCTTCAGATACTAAGAACATTAC ACTTAAATTATTATTAAATCTAATTTGCATTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02074.hp1 HG02129.hp1 others(7): Show HG02040.hp2 HG02074.hp1 HG02129.hp1 HG03017.hp1 HG03688.hp1 HG03710.hp1 NA18963.hp1 NA18983.hp1 NA18983.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0023 a0001c0001t0051 others(1): Show a0001c0001t0005 a0001c0001t0023 a0001c0001t0051 a0001c0001t0053	a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0290 others(5): Show a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0290 a0001c0001t0005g0317 a0001c0001t0005g0336 a0001c0001t0023g0322 a0001c0001t0051g0281 a0001c0001t0053g0334	10	418	0.0239	916	c.-35 others(933): Show c.-35-5777_-35-5776insTTATGCAGCCATAAAAAATGATGAGTTC ATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAA ACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTG GGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTC TGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGGTAGCATTGGGAGAT ATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCA CATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAA CTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAGATCACACCACTGCA CTCCAGCCTGGGTGTCAAAGCGAGACCCTGTCTCAGGAAAAAAAAAAAAA AAAAAAAAAGGCTTAATTGATTGAACCAGATTCGAGAAAACAGTGCGAAA TTATAATTTTCTCAATACTGTAAATATTTTTCAATCTTCAGCTTCATTAA CTTCTATAATTTGAAATTATCCCAATTATTACCTGACATGTACTAAAATT CCCTAAAATGGATCTTGAGTAACATTTTCACAGTACGATAATTTTTCTCT CTGTATATATTTATATAGTCACATATATGCACATACATTATACAAGCATT ACTTTTCTATAACTGTAAGGTCAGAATTTGAAGTTGTGTTTTCTTTATCT TTTTATTTCCAATACTTGGCATCAAGTTGATATTCATTAGAAGTAAAGGA GGAAGGAAATGAATAATCTTCAGATACTAAGAACATTACACTTAAATTAT TATTAAATCTAATTTGCATTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAAAATGTGGCACATATACACCATGGAATA	SLC31A1	ENSG00000136868.11	transcript	ENST00000374212.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC31A1_chr9_113216544_113269492	113250305	T T	TAAGAAAA others(909): Show TAAGAAAATGTGGCACATATACACCATGGAATATTATGCAGCCATAAAAA ATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATC ATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTC ACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGA ATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGGTAG CATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCA CCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACAT GTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAGATCA CACCACTGCACTCCAGCCTGGGTGTCAAAGCGAGACCCTGTCTCAGGAAA AAAAAAAAAAAAAAAAAAAGGCTTAATTGATTGAACCAGATTCGAGAAAA CAGTGCGAAATTATAATTTTCTCAATACTGTAAATATTTTTCAATCTTCA GCTTCATTAACTTCTATAATTTGAAATTATCCCAATTATTACCTGACATG TACTAAAATTCCCTAAAATGGATCTTGAGTAACATTTTCACAGTACGATA ATTTTTCTCTCTGTATATATTTATATAGTCACATATATGCACATACATTA TACAAGCATTACTTTTCTATAACTGTAAGGTCAGAATTTGAAGTTGTGTT TTCTTTATCTTTTTATTTCCAATACTTGGCATCAAGTTGATATTCATTAG AAGTAAAGGAGGAAGGAAATGAATAATCTTCAGATACTAAGAACATTACA CTTAAATTATTATTAAATCTAATTTGCATTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0329 a0001c0001t0005g0329	1	418	0.0024	916	c.-35 others(933): Show c.-35-5777_-35-5776insTTATGCAGCCATAAAAAATGATGAGTTC ATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAA ACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTG GGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTC TGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGGTAGCATTGGGAGAT ATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCA CATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAA CTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAGATCACACCACTGCAC TCCAGCCTGGGTGTCAAAGCGAGACCCTGTCTCAGGAAAAAAAAAAAAAA AAAAAAAAGGCTTAATTGATTGAACCAGATTCGAGAAAACAGTGCGAAAT TATAATTTTCTCAATACTGTAAATATTTTTCAATCTTCAGCTTCATTAAC TTCTATAATTTGAAATTATCCCAATTATTACCTGACATGTACTAAAATTC CCTAAAATGGATCTTGAGTAACATTTTCACAGTACGATAATTTTTCTCTC TGTATATATTTATATAGTCACATATATGCACATACATTATACAAGCATTA CTTTTCTATAACTGTAAGGTCAGAATTTGAAGTTGTGTTTTCTTTATCTT TTTATTTCCAATACTTGGCATCAAGTTGATATTCATTAGAAGTAAAGGAG GAAGGAAATGAATAATCTTCAGATACTAAGAACATTACACTTAAATTATT ATTAAATCTAATTTGCATTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAAAATGTGGCACATATACACCATGGAATA	SLC31A1	ENSG00000136868.11	transcript	ENST00000374212.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC6A12_chr12_185081_219157	197049	T T	TCATCCAT others(909): Show TCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCAT CCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCC ATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCAT CCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCT ACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCAT CCATCCATCTATCCATCCATCCATCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCAT CTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCT ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCAT CCATCCATCTACCCATCCATCCATCCATCTATCCATCCATCCATCCATCT ACCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCTAT CCATCTATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCC ATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCTAT CCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCTACCC ATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCAT CCATCCATCCATCCATC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0022 a0001c0004t0002g0022	1	420	0.0024	916	c.107 others(933): Show c.1076-168_1076-167insGATGGATGGATGGATGGATGGATAGATG GATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGA TGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATAGATGGATG GATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGA TGGATAGATGGATGGATAGATGGATGGATGGATAGATGGATAGATGGATG GATGGATGGATGGATGGATAGATGGATGGATGGATGGGTAGATGGATGGA TGGATGGATAGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTA GATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGA TGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATG GATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATAGATGGATGGATGGATAGATGGATGGATGGATGGATG GATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATA GATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGA TGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGGATG GATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGGTAGATGGATGGATGGATGGATG	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197122	C C	CATCCATC others(909): Show CATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCTATC CATCCATCCATCCATCCATCTATCCATCCATCCATCTATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATC TACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC TATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATCCATCTA CCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCTACCCATCCATCCATCCATCTACCCATCCATCCA TCCATCTATCCATCCATCCATCCATCTACCCATCCATCCATCCATCTATC CATCCATCCATCCATCCATCCATCTATCCATCTATCCATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCCATCCATCTACCCATCCATCCATC CATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCCATCTATCCATCCATCCATCTACCCATCCATCCATCCATCTACCCATC CATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCTATCCATCT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0300 a0001c0004t0001g0300	1	420	0.0024	916	c.107 others(933): Show c.1076-241_1076-240insAGATGGATAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGAT GGATGGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGAT GGGTAGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGGAT GGATGGATGGGTAGATGGATGGATGGATGGATAGATGGATGGATGGATGG GTAGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGAT GGATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGG ATAGATGGATGGATGGATGGATGGATGGATAGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197122	C C	CATCTATC others(909): Show CATCTATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCA TCTATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATC CATCCATCCATCTATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCTACCCATC CATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATC CATCCATCTATCCATCCATCCATCTACCCATCCATCCATCCATCTACCCA TCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCTACCCATCCATCCATCCATCTACCCATCCATCCATCCA TCTATCCATCCATCCATCCATCTACCCATCCATCCATCCATCTATCCATC CATCCATCCATCCATCCATCTATCCATCTATCCATCCATCCATCTATCCA TCCATCTATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATC CATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCTATCCATCCATCCATCTACCCATCCATCCATCCATCTACCCATCCATC CATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCTATCCATCT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0021 a0001c0004t0002g0021	1	420	0.0024	916	c.107 others(933): Show c.1076-241_1076-240insAGATGGATAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGT AGATGGATGGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGAT GGATGGGTAGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATAGAT GGATGGATGGATGGGTAGATGGATGGATGGATGGATAGATGGATGGATGG ATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGG ATGGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGG ATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGGTAGAT GGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT AGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGATAG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATAGATGGATGGATGGATGGATGGATGGATAGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCCATC others(909): Show CATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATC TACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATC CATCCATCTACCCATCCATCCATCCATCTATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATC CATCTATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATC CATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCTACCCA TCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATC CATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0296 a0001c0004t0003g0296	1	420	0.0024	916	c.107 others(933): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGG ATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGG ATGGATAGATGGATGGATAGATGGATGGATGGATAGATGGATAGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATGGATGGGTAGATGGATGG ATGGATGGATAGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGT AGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGAT GGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATAGAT GGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGG ATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATAGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCCATC others(909): Show CATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCA TCTATCCATCCATCCATCCATCCATCTATCCATCCATCCATCTATCCATC CATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCA TCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATCCATCTACC CATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTACCCATCCATCCATCCATCTACCCATCCATCCATC CATCTATCCATCCATCCATCCATCTACCCATCCATCCATCCATCTATCCA TCCATCCATCCATCCATCCATCTATCCATCTATCCATCCATCCATCTATC CATCCATCTATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCTATCCATCCATCCATCTACCCATCCATCCATCCATCTACCCATCCA TCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATC CATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCA TCCATCCATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATC CATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp1 HG01071.hp2 others(2): Show HG00140.hp1 HG01070.hp1 HG01071.hp2 HG01361.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0009 a0002c0002t0001g0082 a0002c0003t0001g0373 others(1): Show a0002c0002t0001g0009 a0002c0002t0001g0082 a0002c0003t0001g0373 a0002c0003t0001g0374	5	420	0.0119	916	c.107 others(933): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAG ATGGATGGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGG ATGGGTAGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGG ATGGATGGATGGGTAGATGGATGGATGGATGGATAGATGGATGGATGGAT GGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGAT GGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGG ATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGATAG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATAGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCCATC others(909): Show CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCA TCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCCATCTATC CATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATC CATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCCATCTACCCATCCATC CATCCATCTACCCATCCATCCATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCTACCCATC CATCCATCCATCTATCCATCCATCCATCCATCTACCCATCCATCCATCCA TCTATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATCCATC CATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTACCCATCCA TCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATCCATCTA CCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATC CATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0269 a0001c0004t0001g0269	1	420	0.0024	916	c.107 others(933): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT AGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGG ATGGGTAGATGGATGGATGGATGGATAGATGGATGGATGGATGGGTAGAT GGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGT AGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGG GTAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGAT GGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCCATC others(909): Show CATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCA TCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATC CATCTATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCTACCCATC CATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATC TACCCATCCATCCATCCATCTATCCATCCATCCATCCATCTACCCATCCA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATCTATC CATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATC CATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0312 a0001c0004t0004g0312	1	420	0.0024	916	c.107 others(933): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGG GTAGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGAT AGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGG ATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATAGATGGAT AGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGGTAG ATGGATGGATGGATGGATAGATGGATGGATGGATGGGTAGATGGATGGAT GGATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGAT GGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGAT AGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGG ATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGATGGATAGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCCATC others(909): Show CATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCA TCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCCATCTATC CATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATC CATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATC CATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCTACCCATC CATCCATCCATCTATCCATCCATCCATCCATCTACCCATCCATCCATCCA TCTATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATCCATC CATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTACCCATCCA TCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATCCATCTA CCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATC CATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19062.hp1 NA18986.hp1 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0002c0003t0001 a0001c0001t0005 a0002c0003t0001	a0001c0001t0005g0153 a0002c0003t0001g0343 a0001c0001t0005g0153 a0002c0003t0001g0343	2	420	0.0048	916	c.107 others(933): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT AGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGG ATGGGTAGATGGATGGATGGATGGATAGATGGATGGATGGATGGGTAGAT GGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGAT GGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGG GTAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGAT GGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGATGGATAGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCCATC others(909): Show CATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATC CATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATC CATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCTACCCATC CATCCATCCATCTATCCATCCATCCATCCATCTACCCATCCATCCATCCA TCTATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATCCATC CATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTACCCATCCA TCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATCCATCTA CCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATC CATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0341 a0002c0003t0002g0341	1	420	0.0024	916	c.107 others(933): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT AGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGG ATGGGTAGATGGATGGATGGATGGATAGATGGATGGATGGATGGGTAGAT GGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGAT GGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGG GTAGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGAT GGATAGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGATGGATAGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197174	C C	CATCCATC others(909): Show CATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATC TATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCCA TCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATC CATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCA TCTATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATC CATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCA TCCATCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCTACCCATCCATCCATCCATCTATCCATCCATC CATCCATCTACCCATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCTATCCATCTATCCATCCATCCATCTATCCATCCATCTATCCATC CATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATC CATCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCA TCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACC CATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATC CATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	420	0.0024	916	c.107 others(933): Show c.1075+202_1075+203insAGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGG ATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGAT AGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATGGATGGGTAGATGGATGGATGGATGGAT AGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGAT GGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATAG ATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATGGATAGATGGATGGATGG ATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGG ATAGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT GGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATAGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SMOC2_chr6_168436184_168672992	168659666	C C	CCGAGTGA others(909): Show CCGAGTGAGGGTGGAGGTTGTAGGCTGGGTGAGGGTGGAGGTTGTTAGCT AGGTAAGGGTGGAGGTTGTAGGTTGGGTGAGGCTGGAGATTATTGGCTGG AGGAGGGTGGAGGTTGTAGGTTGGGTGAGGATGGAGGTTGTAGGTTGGGT TAGGGTGGAGGTTGTTGTCTGGGTGAGGGTGGAGGTTGTAGGTTGTGTGA GGATGGAGATTGTTGGCTAGATGAGGGTGGAGGTTGTAGGTTGGGTGAGG GTGGAGGTTGTAGGTTGGGTGAGGATGGAAGTTGTAGGTTGGGTGAGGTT GTAGATTATAGGTTGAGTGAGGGTGGAGGTTGTTGTCTGGGTGAGGATGG AAGTTGTTGGCTGGGTGAAGGTGGAGGTTGTAGGTTGAGTAAGGGTGGAG GTTGTAGGTTGGGTGAGGGTGGAGGTTGTAGGCTGAGTGAGGGTGGAGGT TGTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTAGGTAAGGGTGGAGGTTG TAGGTTGTGTGAGGCTGGAGATTGTTGGCTGGATGAGGGTGGAGGTTGTA GGTTGGGTGAGGATGGAGGTTGTAGGTTGGGTGAGGTTGTAGATTATAGG CTGAGTGAGGGTGGAGGTTGTAGATTGGGTGAGGGTGGAGGTTGTTGACT GGGTAAGGGTAGAGGTTGTAGGTTGTGTGAGGATGGAGATTGTTGGCTGG ATGAGGGTGGGTGGAGGTTGTAGGTTGGGTGAGGTTGGAGGTTGTAGGCT GGGTGAGGGTGGAGGTTGTAGGCTGAGTGAGGGTGGAGGTTGTAGGTTGG GTGAGGGTGGAGGTTGTTGGCTAGGTAAGGGTGGAGGTTGTAGGTTGTGT GAGGCTGGAGATTGTTGGCTGGATGAGGGTGGAGGTTGTAGGTTGGGTGA GGATGGAGGTTGTAGGT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19030.hp2 HG03516.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0005 a0001c0001t0006 a0001c0002t0005	a0001c0001t0006g0160 a0001c0002t0005g0069 a0001c0001t0006g0160 a0001c0002t0005g0069	2	180	0.0111	916	c.128 others(935): Show c.1286-4408_1286-4407insCGAGTGAGGGTGGAGGTTGTAGGCTG GGTGAGGGTGGAGGTTGTTAGCTAGGTAAGGGTGGAGGTTGTAGGTTGGG TGAGGCTGGAGATTATTGGCTGGAGGAGGGTGGAGGTTGTAGGTTGGGTG AGGATGGAGGTTGTAGGTTGGGTTAGGGTGGAGGTTGTTGTCTGGGTGAG GGTGGAGGTTGTAGGTTGTGTGAGGATGGAGATTGTTGGCTAGATGAGGG TGGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTAGGTTGGGTGAGGATG GAAGTTGTAGGTTGGGTGAGGTTGTAGATTATAGGTTGAGTGAGGGTGGA GGTTGTTGTCTGGGTGAGGATGGAAGTTGTTGGCTGGGTGAAGGTGGAGG TTGTAGGTTGAGTAAGGGTGGAGGTTGTAGGTTGGGTGAGGGTGGAGGTT GTAGGCTGAGTGAGGGTGGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGT TGGCTAGGTAAGGGTGGAGGTTGTAGGTTGTGTGAGGCTGGAGATTGTTG GCTGGATGAGGGTGGAGGTTGTAGGTTGGGTGAGGATGGAGGTTGTAGGT TGGGTGAGGTTGTAGATTATAGGCTGAGTGAGGGTGGAGGTTGTAGATTG GGTGAGGGTGGAGGTTGTTGACTGGGTAAGGGTAGAGGTTGTAGGTTGTG TGAGGATGGAGATTGTTGGCTGGATGAGGGTGGGTGGAGGTTGTAGGTTG GGTGAGGTTGGAGGTTGTAGGCTGGGTGAGGGTGGAGGTTGTAGGCTGAG TGAGGGTGGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTAGGTA AGGGTGGAGGTTGTAGGTTGTGTGAGGCTGGAGATTGTTGGCTGGATGAG GGTGGAGGTTGTAGGTTGGGTGAGGATGGAGGTTGTAGGT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168659666	C C	CCGAGTGA others(909): Show CCGAGTGAGGGTGGAGGTTGTAGGCTGGGTGAGGGTGGAGGTTGTTAGCT AGGTAAGGGTGGAGGTTGTAGGTTGGGTGAGGCTGGAGATTATTGGCTGG AGGAGGGTGGAGGTTGTAGGTTGGGTGAGGATGGAGGTTGTAGGTTGGGT TAGGGTGGAGGTTGTTGTCTGGGTGAGGGTGGAGGTTGTAGGTTGTGTGA GGATGGAGATTGTTGGCTGGATGAGGGTGGAGGTTGTAGGTTGGGTGAGG GTGGAGGTTGTAGGTTGGGTGAGGATGGAAGTTGTAGGTTGGGTGAGGTT GTAGATTATAGGTTGAGTGAGGGTGGAGGTTGTTGTCTGGGTGAGGATGG AAGTTGTTGGCTGGGTGAAGGTGGAGGTTGTAGGTTGAGTAAGGGTGGAG GTTGTAGGTTGGGTGAGGGTGGAGGTTGTAGGCTGAGTGAGGGTGGAGGT TGTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTAGGTAAGGGTGGAGGTTG TAGGTTGTGTGAGGCTGGAGATTGTTGGCTGGATGAGGGTGGAGGTTGTA GGTTGGGTGAGGATGGAGGTTGTAGGTTGGGTGAGGTTGTAGATTACAGG CTGAGTGAGGGTGGAGGTTGTAGATTGGGTGAGGGTGGAGGTTGTTGACT GGGTAAGGGTAGAGGTTGTAGGTTGTGTGAGGATGGAGATTGTTGGCTGG ATGAGGGTGGGTGGAGGTTGTAGGTTGGGTGAGGTTGGAGGTTGTAGGCT GGGTGAGGGTGGAGGTTGTAGGCTGAGTGAGGGTGGAGGTTGTAGGTTGG GTGAGGGTGGAGGTTGTTGGCTAGGTAAGGGTGGAGGTTGTAGGTTGTGT GAGGCTGGAGATTGTTGGCTGGATGAGGGTGGAGGTTGTAGGTTGGGTGA GGATGGAGGTTGTAGGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02559.hp2 others(1): Show HG01243.hp1 HG01884.hp2 HG02559.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0004t0005 a0001c0001t0006 a0001c0004t0005	a0001c0001t0006g0128 a0001c0004t0005g0048 a0001c0004t0005g0049 others(1): Show a0001c0001t0006g0128 a0001c0004t0005g0048 a0001c0004t0005g0049 a0001c0004t0005g0051	4	180	0.0222	916	c.128 others(935): Show c.1286-4408_1286-4407insCGAGTGAGGGTGGAGGTTGTAGGCTG GGTGAGGGTGGAGGTTGTTAGCTAGGTAAGGGTGGAGGTTGTAGGTTGGG TGAGGCTGGAGATTATTGGCTGGAGGAGGGTGGAGGTTGTAGGTTGGGTG AGGATGGAGGTTGTAGGTTGGGTTAGGGTGGAGGTTGTTGTCTGGGTGAG GGTGGAGGTTGTAGGTTGTGTGAGGATGGAGATTGTTGGCTGGATGAGGG TGGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTAGGTTGGGTGAGGATG GAAGTTGTAGGTTGGGTGAGGTTGTAGATTATAGGTTGAGTGAGGGTGGA GGTTGTTGTCTGGGTGAGGATGGAAGTTGTTGGCTGGGTGAAGGTGGAGG TTGTAGGTTGAGTAAGGGTGGAGGTTGTAGGTTGGGTGAGGGTGGAGGTT GTAGGCTGAGTGAGGGTGGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGT TGGCTAGGTAAGGGTGGAGGTTGTAGGTTGTGTGAGGCTGGAGATTGTTG GCTGGATGAGGGTGGAGGTTGTAGGTTGGGTGAGGATGGAGGTTGTAGGT TGGGTGAGGTTGTAGATTACAGGCTGAGTGAGGGTGGAGGTTGTAGATTG GGTGAGGGTGGAGGTTGTTGACTGGGTAAGGGTAGAGGTTGTAGGTTGTG TGAGGATGGAGATTGTTGGCTGGATGAGGGTGGGTGGAGGTTGTAGGTTG GGTGAGGTTGGAGGTTGTAGGCTGGGTGAGGGTGGAGGTTGTAGGCTGAG TGAGGGTGGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTAGGTA AGGGTGGAGGTTGTAGGTTGTGTGAGGCTGGAGATTGTTGGCTGGATGAG GGTGGAGGTTGTAGGTTGGGTGAGGATGGAGGTTGTAGGT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12			chr6	TogoVar
TMEM120B_chr12_121707752_121787068	121747572	C C	CTGGGGTA others(909): Show CTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTA GAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGA GGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGC GGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGG GGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGT GGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCT GGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAG GTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGA AGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGG CTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGA GGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTA GAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGG GAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGC GGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCT GGGGTAGAAGGTGGGAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0178 a0002c0002t0007g0178	1	314	0.0032	916	c.189 others(931): Show c.189-754_189-753insTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCG GGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TP53AIP1_chr11_128930370_128947871	128930831	C C	CGGGGTTA others(909): Show CGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGGTTAGGGAGGCTGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTA GGGAGGCTGGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGA GGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGGTTAGGGAGGCC AGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCAGGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGG GGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTT AGGGAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGACCAAGGGTTAG GGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAG GCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGG GGGTTAGGGAGACCAAGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGG GAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	466	0.0022	916	c.47 others(927): Show c.4759_*4760insTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCT TAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAAC CCCAGCCTCCCTAACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTAACCC CAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTA ACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCC GGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCCTGGCC TCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTTGGTCTCCC TAACCCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAC CCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCCAGCCTCCCTAACCCC AGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCAGCCTCCCTAACCCCCTGGCCTCCCTAACCCCGGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAAC CCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCCA GCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCC CTAACCCCTGGCCTCCCTAACCCCCAGCCTCCCTAACCCCAGCCTCCCTA ACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCC CTGGCCTCCCTAACCCCGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4538		chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204340	T T	TATGATGA others(909): Show TATGATGATATGATACTATATCATCATATGATGATATACTATATCATCAT ATGATGATATACTATATCATCATATGATGATATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATATGATATACT ATATCATCATATGATGATATGATATACTATATCATCATATGATGATATGA TATACTATATCATCATATGATGATATGATATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0140 a0001c0002t0009g0140	1	174	0.0058	916	c.41- others(933): Show c.41-49157_41-49156insGATGATATGATACTATATCATCATATGA TGATATACTATATCATCATATGATGATATACTATATCATCATATGATGAT ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(909): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCT TCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCT CCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCC CCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGT CCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCC TTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTC CCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCC CCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCC TTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCC CCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTT ATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCT TACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTC CCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0061 a0002c0003t0002g0061	1	334	0.0030	916	c.657 others(931): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCC TTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCC TCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCT CCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCC TTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCT CCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCT TCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTC CCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCC TCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCT TCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTC TCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(909): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATTATATATAATAATATATATTATATTATTATAT ATAATTATATATAATAATATAATATATATTATTATATATAATTATATATA ATAATATATATTATATTATTATATATAATTATATATAATAATATAATATA TATTATTATATATTATTATATATAATAATATAATATATATTATTATATAT AATAATATATAATAATATAATATATATTATTATATATAATTATATATAAT AATATAATATATATTATTATATATAATTATATATAATAATATAATATATA TTATTATATATAATAATAATATATATATTATTATATATAATTATATATAA TATAATATATATTATTATATATAATTATATATAATAATATATATTATATT ATTATATATAATAATATATAATAATATATATTATATTATTATATATAATT ATATATAATAATATAAATATATTATTATATATTATTATATATAATAATAT AATATATATTATATATTATTATATATAATAATATAATATATATTATATAT TATTATATATAATAATATAATATATATTATATATTATTATATATAATAAT ATAATATATATTATTATATATTATTATATATAATAATATAATATATATTA TTATATATAATAATATAATATATATTATTATATATTATTATATATAATAT AATATATATTATTATATATAATAATATAATATATATTATTATATATTATT ATATATAATAATATAATATATATTATTATATATAATAATATAATATATAT TATTATATATTATTATATATAATAATATAATATATATTATTATATATTAT TATATATAATAATATAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	238	0.0042	916	c.392 others(933): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATATTATATTATTATATATAATAATATATA ATAATATATATTATATTATTATATATAATAATATATATTATATTATATAT AATAATATATAATAATATATATTATATTATTATATATAATAATATATATT ATATTATTATATATAATAATATATAATAATATATATTATATTATTATATA TAATAATATATAATATATATTATATTATTATATATAATAATATATAATAT ATATTATATTATTATATATAATAATATATAATATATATTATATTATTATA TATAATAATATATAATAATATATTTATATTATTATATATAATTATATATA ATAATATAATATATATTATTATATATTATTATATATAATAATATAATATA TATTATTATATATAATTATATATAATAATATATATTATATTATATATAAT TATATATAATAATATATATATTATTATTATATATAATAATATATATTATA TTATTATATATAATTATATATAATAATATATATTATATTATTATATATAA TTATATATAATAATATATATTATATTATTATATATTATTATATATAATAA TATATATTATATTATTATATATAATAATATATAATAATATATATTATATT ATTATATATAATTATATATAATAATATAATATATATTATTATATATAATT ATATATAATAATATATATTATATTATTATATATAATTATATATAATAATA TAATATATATTATTATATATAATTATATATAATAATATATATTATATTAT TATATATAATAATATATAATAATATATATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
USP12_chr13_27061156_27176811	27063935	A A	AGGAGAGG others(909): Show AGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGAAGGA AGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAGTAAA GGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGGGAGG GGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGG AGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAG AGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGG AGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAG GGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGG AGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGG GAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAG AGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGAGGGAGGAGAGGGACGGAGAAAGAGAGGGAGGGAGGAAGGAGG GAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAG AGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGGAGGAAGGAGGGAGGGGAGGGAAGG GAGGGAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 NA18950.hp1 HG00558.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0124 a0001c0001t0002g0125	2	167	0.0120	916	c.53 others(927): Show c.5347_*5348insCCCTCCCTTCCTCCCTCCCTTCCCTCCCCTCCCT CCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCTCTTTCTCCGTCCCTCTCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTC CCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCCCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCT CCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTC CCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTCCCTCCCTCTCCTCC CTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTT CCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCCCCTCCCTCCTTCCTCCC TCCCTCTCTCTTTCACCCTCCCTTCCTTTCTCCTTTACTCCCTTCCTCCA TCCCCTCCCCTCCCCTCCCTTCCCTCTCTCTCTTCCTTCCTTCCTTCCTC TCCCTCCCTTCTTTCCTCCCTCCCTCCTCTCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2220		chr13	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ATCACCAC others(909): Show ATCACCACCACCACCACCATTATCACCATTATCACCAGGACCAGCACCAT CAGCATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTGTCA CTACTACCACTCCTGTCATCACCACCACCACCACCATTATCACCAGGACC AGCACCATCACCATCACTATCTCTATACCCACCACCACCACCACTGTCAT CATTGTCACTACTACCACTCCTGTCATCACCACCACCACCACCATTATCA CCAGGACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCGCC ACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACCAC CACTGTCATCATTGTCACTACCACCACTACTATCGTCACCACCATCACCA CTACCACCACCATTATCACCAGCACCAGCACCATCAGCATCACTACCACC ACCAGTGTCATCACCGCCACCACCACCAGTACCACCATCAGCATCACTAT CTCTATACCCACCACCTCCACTGTCATCATTGTCACTACCACCACTACTG TCATCATCACCATTATCACCAGCACCAGCACCATCAGCATCACTATCTCT ATACCCACCACCACCACAGTCATCATTGTCACTACTACCACTCCTGTCAT CACCAGCACCACCGCCATTATCACCAGCACCACTGCCATCAGCATCACCA TCACCATCTTTGTACTCATCACCATCATCGTCACCACCGCGCCACCACCA TCACTGCCACCACTATTATCACTAGCACTACCACCATCAGCATCAGCATC ACCATCTGTATACTCACCACCATTACCATCATCGTCATCACTGCCACCAC CATCACCACTGTCCTCTTTATCTCCAGCACCACCATCATCGTCACTGTCA CCATACCACTCTCATCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0133 a0001c0003t0001g0133	1	228	0.0044	916	c.127 others(933): Show c.1272+902_1272+903insCACCACCATTATCACCATTATCACCAGG ACCAGCACCATCAGCATCACTATCTCTATACCCACCACCACCACCACTGT CATCATTGTCACTACTACCACTCCTGTCATCACCACCACCACCACCATTA TCACCAGGACCAGCACCATCACCATCACTATCTCTATACCCACCACCACC ACCACTGTCATCATTGTCACTACTACCACTCCTGTCATCACCACCACCAC CACCATTATCACCAGGACCAGCACCATCAGCATCACTACCACCACCAGTG TCATCACCGCCACCATCACCAGTACCACCATCAGCATCACTATCTCTATA CCCACCACCACCACTGTCATCATTGTCACTACCACCACTACTATCGTCAC CACCATCACCACTACCACCACCATTATCACCAGCACCAGCACCATCAGCA TCACTACCACCACCAGTGTCATCACCGCCACCACCACCAGTACCACCATC AGCATCACTATCTCTATACCCACCACCTCCACTGTCATCATTGTCACTAC CACCACTACTGTCATCATCACCATTATCACCAGCACCAGCACCATCAGCA TCACTATCTCTATACCCACCACCACCACAGTCATCATTGTCACTACTACC ACTCCTGTCATCACCAGCACCACCGCCATTATCACCAGCACCACTGCCAT CAGCATCACCATCACCATCTTTGTACTCATCACCATCATCGTCACCACCG CGCCACCACCATCACTGCCACCACTATTATCACTAGCACTACCACCATCA GCATCAGCATCACCATCTGTATACTCACCACCATTACCATCATCGTCATC ACTGCCACCACCATCACCACTGTCCTCTTTATCTCCAGCACCACCATCAT CGTCACTGTCACCATACCACTCTCATCTTCACCACCAC	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ZIC2_chr13_99976784_99991765	99980018	C C	CGGGGGGG others(909): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGAGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGAGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC CGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGCGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGAGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGAGGCGGGGGGGGGGGGGA GGGGGGGGGGGGGGGGGAGGGGGGCGGGGGGGGGGGGGGCGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGG GGGGGTGGGGGGGGGGGCGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGG GGAGGGGGGGGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	444	0.0023	916	c.-20 others(927): Show c.-2047_-2046insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGGGGGGGGGGGGGGCG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGAGGGGGGGGCGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGT GGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGAGG CGGGGGGGGGGGGGAGGGGGGGGGGGGGGGGGAGGGGGGCGGGGGGGGGG GGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGTGGGGGGGGGGGTGGGGGGGGGGGCGGGGGGGGGGGTGGGGG GGGGGGGGGGGGGGGGGAGGGGGGGGGGGGTG	ZIC2	ENSG00000043355.12	transcript	ENST00000376335.8	protein_coding		1765		chr13	TogoVar
ZNF85_chr19_20918251_20955697	20919187	A A	ATATACAA others(909): Show ATATACAAGTATATATACATGTATATATATACAAGTATATATACATGTAT GTATATATACTTATATATACATACATGTATATATATACAAGTATATATAC ATACATGTATATATATACAAGTATATATACATACATGTATATATATACAA GTATATATACATACATGTATATATATACAAGTATATATACATACATGTAT ATATATACAAGTATATATACATACATGTATATATATACAAGTATATATAC ATACATGTATATATATACAAGTATATATACATACATGTATATATATACAA GTATATATACATACATGTATATATATACAAGTATATATATATACTTGTAT ACATATATACTATATATACAAGTATATATATATACTTGTATACATATATA CTATATATATACATATATACACATATATACGTATATATACGTATATATAC GTATATACATGTATATACACGTATATACATGTATATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACATGTATAT ATACGTATATATACACATATATACATGTATATATATACGTATATATACAC ATATATACATGTATATATATACGTATATATACACGTATATATACACGTAT ATACATGTATATATACGTATATATACGTGTATATATATACGTATATATAC GTATATATACGTGTATATATATACGTATATATACGTATATATACGTGTAT ATATATACGTATATATACGTATATATACGTGTATATATATACGTATATAT ACGTGTATATACGTGTATATATATACGTATATATACACATATATACGTAT ATATACATATATACATGTATATATATATACGTATATACACATATATATAC ATGTATATATATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0246 a0003c0004t0004g0246	1	383	0.0026	916	c.-42 others(927): Show c.-4214_-4213insTATACAAGTATATATACATGTATATATATACAAG TATATATACATGTATGTATATATACTTATATATACATACATGTATATATA TACAAGTATATATACATACATGTATATATATACAAGTATATATACATACA TGTATATATATACAAGTATATATACATACATGTATATATATACAAGTATA TATACATACATGTATATATATACAAGTATATATACATACATGTATATATA TACAAGTATATATACATACATGTATATATATACAAGTATATATACATACA TGTATATATATACAAGTATATATACATACATGTATATATATACAAGTATA TATATATACTTGTATACATATATACTATATATACAAGTATATATATATAC TTGTATACATATATACTATATATATACATATATACACATATATACGTATA TATACGTATATATACGTATATACATGTATATACACGTATATACATGTATA TATACGTATATATACACATATATACATGTATATATACGTATATATACACA TATATACATGTATATATACGTATATATACACATATATACATGTATATATA TACGTATATATACACATATATACATGTATATATATACGTATATATACACG TATATATACACGTATATACATGTATATATACGTATATATACGTGTATATA TATACGTATATATACGTATATATACGTGTATATATATACGTATATATACG TATATATACGTGTATATATATACGTATATATACGTATATATACGTGTATA TATATACGTATATATACGTGTATATACGTGTATATATATACGTATATATA CACATATATACGTATATATACATATATACATGTATATATATATACGTATA TACACATATATATACATGTATATATATATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4063		chr19	TogoVar
ARHGAP39_chr8_144524179_144690846	144687405	A A	ACCCCCGT others(910): Show ACCCCCGTGACCACTCATTTACAGCGAGCACTTCTCACCCCCGTGACCAC ACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAG CACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGT GACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCG GTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCAC CCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACA CTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCAC TTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGAC CACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTG AGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCC GTGACCACACATTTACAGTGAGCACTTCCCACCCCGTGACCACACACTGG CGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCC ACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCA CTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGA CCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGT GAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCC CGTGACCACACATTTACAGTGAGCACTTCCCACCCCGTGACCACACACTA GCGGTGAGCACTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	246	0.0041	917	c.-18 others(928): Show c.-1802_-1801insGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGG GGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGT CACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGT GCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGT GTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTG GGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC CAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACG GGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTC ACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAG TGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGT GGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACC GCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCA CGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGC TCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGT GGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGA GAAGTGCTCGCTGTAAATGAGTGGTCACGGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1560		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(910): Show GGTGAGCACTTCTCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCC ACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACAC ACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCAC TTCCCACCCCGTGACCACACACTAGCGGCGAGCACTTCCCACCCCGTGAC CACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTG AGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCC CGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACTCATTT ACAGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCC CACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACG CACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCA CTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCTCACCCCCGTG ACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCG GCGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCAC CCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACAC TAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTT CCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACC ACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACATTTACAGTG AGCACTTCCCACCCCTGTGACCACACACTGGCGGTGAGCACTTCCCACCC CGTGACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	246	0.0041	917	c.-18 others(928): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGG TCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGA AGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAG TGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGG TGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACC GCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCA CGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGAGAAGT GCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGT GTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGG GAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCT AGTGTGTGGTCACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGG GGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTC ACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAG TGCTCGCCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTG GGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGC CAGTGTGTGGTCACGGGGGTGAGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687476	C C	CCCCGTGA others(910): Show CCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACA CTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGA CCACACATTTACAGTGAACACTTCCCACCCCGTGACCACACACTGGCGGT GAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCC CGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTG GCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTC CCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCA CACATTTACAGTGAACACTTCCCACCCCGTGACCACACACTGGCGGTGAG CACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGT GACCACACATTTACAGTGAGCACTTCCCACCCCTGTGACCACACACTGGC GGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCA CCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACAC ATTTACAGTGAACACTTCCCACCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGAC CACACATTTACAGTGAGCACTTCCCACCCCTGTGACCACACACTGGCGGT GAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCC CCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACATT TACAGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	246	0.0041	917	c.-18 others(928): Show c.-1873_-1872insTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGT CACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAG TGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTG TGTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGTG GGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCG CCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCAC AGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGC TCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGT GGTCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGTGGGA AGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCA GTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGG GGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGT CACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGTGGGAAGT GCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTG TGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGT GGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1631		chr8	TogoVar
CAMK2B_chr7_44212154_44330594	44254776	T T	TACCATCA others(910): Show TACCATCATCACCAACCACCATCACCATCACCACCACCATCACCACCAAC CACCATCACCATCACCACCACCATCACCACCAACCAACATCACCATCACC ACCACCATCACCACCAACCACCATCACCATCACCACCACCATCACCACCA ACCAACATCACCATCACCACCACCATCACCACCAACCAACATCACCATCA CCACCACCATCACCACCAACCAACATCACCATCACCACCACCATCACCAC CACCCAACATCACCATCACCACCACCATCACCACCAACCAACATCACCAT CACCACCACCATCACCACCAACCAACATCACCATCACCACCACCATCACC ACCAACCAACATCACCATCACCACCAACATCACCACCAACCAACATCACC ATCACCACCACCACCATCACCACCAACCAACATCACCATCACCACCACCA TCACCACCAACCGACATCACCACCACTACCACCATCACCAGCATCATCAC CACCATCACCACCACCACGACCATCACCACCAACCAACATCACCATCACC ACCACCATCACCACCAACCAACATCACCATCACCACCACCATCACCACCA ACCATCACCATCACCACCACCATCACCACCAACCGACATCACCACCACTA CCACCATCACCAGCATCATCACCACCATCACCACCACCACCATCACCAAC ATCACCACCACCATTACCATCACCACCACCACCACCACCATCACCATCAT CACCATCACCATCATTACCACCATGACCATCACCAACACCACTACCACCA TCACTACCACCATCACCATCACCAACACCACCACCACCACCATCACCATC ACTGCCACCACCACCATCATCACTATCACCATCACCACCATCACACCATT ACCATTATCATCACCACC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	242	0.0041	917	c.276 others(932): Show c.276-170_276-169insGGTGGTGATGATAATGGTAATGGTGTGATG GTGGTGATGGTGATAGTGATGATGGTGGTGGTGGCAGTGATGGTGATGGT GGTGGTGGTGGTGTTGGTGATGGTGATGGTGGTAGTGATGGTGGTAGTGG TGTTGGTGATGGTCATGGTGGTAATGATGGTGATGGTGATGATGGTGATG GTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGTTGGTGATGGT GGTGGTGGTGATGGTGGTGATGATGCTGGTGATGGTGGTAGTGGTGGTGA TGTCGGTTGGTGGTGATGGTGGTGGTGATGGTGATGGTTGGTGGTGATGG TGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGAT GTTGGTTGGTGGTGATGGTCGTGGTGGTGGTGATGGTGGTGATGATGCTG GTGATGGTGGTAGTGGTGGTGATGTCGGTTGGTGGTGATGGTGGTGGTGA TGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGGTGATGGTGATGTTGGT TGGTGGTGATGTTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGT GGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGATGTTG GTTGGTGGTGATGGTGGTGGTGATGGTGATGTTGGGTGGTGGTGATGGTG GTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGATGT TGGTTGGTGGTGATGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGG TGGTGGTGATGGTGATGGTGGTTGGTGGTGATGGTGGTGGTGATGGTGAT GTTGGTTGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTTGGTGGTGAT GGTGGTGGTGATGGTGATGGTGGTTGGTGATGATGGT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	4/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44254776	T T	TACCATCA others(910): Show TACCATCATCACCAACCACCATCACCATCACCACCACCATCACCACCAAC CACCATCACCATCACCACCACCATCACCACCAACCAACATCACCATCACC ACCACCATCACCACCAACCACCATCACCATCACCACCACCATCACCACCA ACCAACATCACCATCACCACCACCATCACCACCAACCAACATCACCATCA CCACCACCATCACCACCAACCAACATCACCATCACCACCACCATCACCAC CACCCAACATCACCATCACCACCACCATCACCACCAACCAACATCACCAT CACCACCACCATCACCACCAACCAACATCACCATCACCACCACCATCACC ACCAACCAACATCACCATCACCACCACCATCACCACCAACCAACATCACC ATCACCACCACCACCATCACCACCAACCAACATCACCATCACCACCACCA TCACCACCAACCGACATCACCACCACTACCACCATCACCAGCATCATCAC CACCATCACCACCACCACGACCATCACCACCAACCAACATCACCATCACC ACCACCATCACCACCAACCAACATCACCATCACCACCACCATCACCACCA ACCATCACCATCACCACCACCATCACCACCAACCAACATCACCACCACTA CCACCATCACCAGCATCATCACCACCATCACCACCACCACCATCACCAAC ATCACCACCACCATTACCATCACCACCACCACCACCACCATCACCATCAT CACCATCACCATCATTACCACCATGACCATCACCAACACCACTACCACCA TCACTACCACCATCACCATCACCAACACCACCACCACCACCATCACCATC ACTGCCACCACCACCATCATCACTATCACCATCACCACCATCACACCATT ACCATTATCATCACCACC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp2 NA20752.hp2 HG01175.hp2 HG01243.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0026 a0001c0001t0002 a0001c0001t0025 a0001c0001t0026	a0001c0001t0002g0232 a0001c0001t0025g0231 a0001c0001t0026g0230 a0001c0001t0002g0232 a0001c0001t0025g0231 a0001c0001t0026g0230	3	242	0.0124	917	c.276 others(932): Show c.276-170_276-169insGGTGGTGATGATAATGGTAATGGTGTGATG GTGGTGATGGTGATAGTGATGATGGTGGTGGTGGCAGTGATGGTGATGGT GGTGGTGGTGGTGTTGGTGATGGTGATGGTGGTAGTGATGGTGGTAGTGG TGTTGGTGATGGTCATGGTGGTAATGATGGTGATGGTGATGATGGTGATG GTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGTTGGTGATGGT GGTGGTGGTGATGGTGGTGATGATGCTGGTGATGGTGGTAGTGGTGGTGA TGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGATGGTTGGTGGTGATGG TGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGAT GTTGGTTGGTGGTGATGGTCGTGGTGGTGGTGATGGTGGTGATGATGCTG GTGATGGTGGTAGTGGTGGTGATGTCGGTTGGTGGTGATGGTGGTGGTGA TGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGGTGATGGTGATGTTGGT TGGTGGTGATGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGT GGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGATGTTG GTTGGTGGTGATGGTGGTGGTGATGGTGATGTTGGGTGGTGGTGATGGTG GTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGATGT TGGTTGGTGGTGATGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGG TGGTGGTGATGGTGATGGTGGTTGGTGGTGATGGTGGTGGTGATGGTGAT GTTGGTTGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTTGGTGGTGAT GGTGGTGGTGATGGTGATGGTGGTTGGTGATGATGGT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	4/23			chr7	TogoVar

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Search Results (Total: 6036 hits)