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
SYNE3_chr14_95402266_95521650	95419899	G G	GGTGGTGG others(776): Show GGTGGTGGTCGTGATGGTGAGGGTGATGGTGTTAAGGATGATGGTGATGG TGGTGGTGATGGTGATAGTGATGATGATGGTGGAGGTAGAGATGGTGGTG GTGATGGCGAGGGTAATTGTGGTAAGGATGATGGTGATGGTGATGGTGGT GGTGATGGTGGTGGTGATGGTGATAGTAACGACGATGGTGGAGGTAGAGA TGGTGGTGGTGATGGCGAGGGTAATTGTGGTAAGGATGATTGTGATGGTG ATGGTGGTGGTGATGGTGAGGGTGATGGTGGTAAGGACGATGGTGATGGT GGTGATGGTGATAGTGATGATGATGGTGGAGGTAGAGATGGTGGTGGTGA TGGCGAGGGTAATTGTGGTAAGGATGATGGTGATGGTGATGGTGGTGGTG ATGGTGATAGTAACGATGATGGTGGAGGTAGAGATGGTGGTGGTGGTGAT GGCGAGGGTAATGGTGGTAAGGATGATTGCGATGGTGATGGTGGTGATGG TGAGGGTGATGGTGGTAAGGATGATGGTGATGGTGGTGATGGTGATAGTG ATGATGATGGAGGTAGAGATGGTGGTGGTGATGGTGAGGGTGATAGTGGT AAGGATGATGGTGATGGTGATGGTGGTGGTGATGGTGATAGTGATGGTGA TGGAGGTAGAGATAGTGGTGGTGGTGATGGTGAGGGTAATGGTGGTAAGG ATGACGGTGGTGGTGATGGTGGTGGTGGTGATGGTGAGGGCAATGGTGTT AAGGATGATGGTGATGGTGGTGGTGATGGTGGTA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0079 a0003c0006t0079	a0003c0006t0079g0142 a0003c0006t0079g0142	1	384	0.0026	783	c.272 others(802): Show c.2728-1874_2728-1873insTACCACCATCACCACCACCATCACCA TCATCCTTAACACCATTGCCCTCACCATCACCACCACCACCATCACCACC ACCGTCATCCTTACCACCATTACCCTCACCATCACCACCACCACTATCTC TACCTCCATCACCATCACTATCACCATCACCACCACCATCACCATCACCA TCATCCTTACCACTATCACCCTCACCATCACCACCACCATCTCTACCTCC ATCATCATCACTATCACCATCACCACCATCACCATCATCCTTACCACCAT CACCCTCACCATCACCACCATCACCATCGCAATCATCCTTACCACCATTA CCCTCGCCATCACCACCACCACCATCTCTACCTCCACCATCATCGTTACT ATCACCATCACCACCACCATCACCATCACCATCATCCTTACCACAATTAC CCTCGCCATCACCACCACCATCTCTACCTCCACCATCATCATCACTATCA CCATCACCACCATCACCATCGTCCTTACCACCATCACCCTCACCATCACC ACCACCATCACCATCACAATCATCCTTACCACAATTACCCTCGCCATCAC CACCACCATCTCTACCTCCACCATCGTCGTTACTATCACCATCACCACCA CCATCACCACCACCATCACCATCACCATCATCCTTACCACAATTACCCTC GCCATCACCACCACCATCTCTACCTCCACCATCATCATCACTATCACCAT CACCACCACCATCACCATCATCCTTAACACCATCACCCTCACCATCACGA CCACCAC	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17			chr14	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(776): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTC TCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCC TCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCC TCCTCCACTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCT CCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCC TTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCT CCTCCCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCC TCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCTCTT CCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG01081.hp1 others(28): Show HG00423.hp2 HG00597.hp2 HG01081.hp1 HG01934.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG03704.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18946.hp2 NA18951.hp1 NA18954.hp2 NA18961.hp1 NA18974.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp1 NA18999.hp2 NA19005.hp1 NA19062.hp2 NA19068.hp1 NA19079.hp1 NA19080.hp2 NA19085.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0002c0003t0002	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0002g0173 others(27): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0002g0173 a0001c0001t0003g0060 a0001c0001t0003g0071 a0001c0001t0003g0078 a0001c0001t0003g0115 a0001c0001t0004g0009 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0077 a0001c0001t0004g0108 a0001c0001t0004g0174 a0001c0001t0004g0241 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0068 a0001c0001t0005g0116 a0001c0001t0006g0072 a0001c0001t0006g0075 a0001c0001t0007g0159 a0001c0001t0008g0045 a0001c0001t0008g0067 a0001c0001t0008g0073 a0001c0001t0008g0076 a0001c0001t0012g0222 a0001c0001t0013g0074 a0001c0001t0015g0046 a0002c0003t0002g0066	31	384	0.0807	783	c.424 others(800): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCT CCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CCCTTCCTCCTCCTCCACTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCC TCCTCCTCCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCT CCTCCTCCCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTC TCCTCCTCCTCCTCCCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCT CCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTC CCCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCTTTCCTCC TCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TP53AIP1_chr11_128930370_128947871	128930739	G G	GCTGGGGT others(776): Show GCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTG GGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGG TTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGG GAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCA GGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAG GGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGG CTGGGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCA GGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGAGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAG GGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCAGG GATTAGGGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGA GGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02965.hp2 HG03139.hp1 others(2): Show HG01099.hp2 HG02965.hp2 HG03139.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0008c0010	a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 a0004c0004t0010 a0008c0010t0002	a0001c0001t0002g0121 a0001c0001t0003g0080 a0002c0002t0002g0059 others(2): Show a0001c0001t0002g0121 a0001c0001t0003g0080 a0002c0002t0002g0059 a0004c0004t0010g0102 a0008c0010t0002g0079	5	466	0.0107	783	c.48 others(794): Show c.4851_*4852insGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCC TCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTCCCTAATC CCTGCCTCCATAATCCCTGCCTCCATAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCC CTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCTGGCCTCTCTA ACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCC TGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAACCCCCAG CCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCC CTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTA ACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCC TGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCTCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTC CCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCC CAGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAG	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4630		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930739	G G	GCTGGGGT others(776): Show GCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTG GGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGG TTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGG GAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAA GGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGAGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGG AAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAG GGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGGAGGCCGGGGTT AGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAG GGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCAGGGATTATGGAGGCAGG GATTAGGGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGA GGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0008	1	466	0.0022	783	c.48 others(794): Show c.4851_*4852insGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCC TCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTCCCTAATC CCTGCCTCCATAATCCCTGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCC CTAACCCCTGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCT AACCCCGGCCTCCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCC CTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTT CCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTA ACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCC TTGGTCTCCCTAACCCCGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTC CCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCC CAGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAG	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4630		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930772	A A	AGGGGTTA others(776): Show AGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAGG GTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGA GGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGG ATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAG GGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTG GGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAG AGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGGGAGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCAGGGAT TAGGGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGC TGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	466	0.0022	783	c.48 others(794): Show c.4818_*4819insCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCA GCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTCCCTA ATCCCTGCCTCCATAATCCCTGCCTCCATAACCCCGGCCTCCCTAACCCC GGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCC TCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCTGGCCTCT CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAACCCC CAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAT CCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCTCTAACCCC GGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCC TCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGAC CCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4597		chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(776): Show TTATATCATCATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp2 HG01099.hp1 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0029 a0001c0001t0003 a0001c0001t0029	a0001c0001t0003g0090 a0001c0001t0029g0094 a0001c0001t0003g0090 a0001c0001t0029g0094	2	174	0.0115	783	c.41- others(800): Show c.41-49402_41-49401insACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATATGATATACT ATATCATCATATGATGATATGATATACTATATCATCATATGATGATATGA TATACTATATCATCATATGATGATATGATATACTATATCATCATATGATG ATATGATATACTATATCATCATATGATGATATGATATACTATATCATCAT ATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TWIST2_chr2_238843085_238915534	238870214	C C	CCACACAC others(776): Show CCACACACACCACACACCCCCCACACACCACACACCATACACACCACACC CCACACACACCACACCCCCCACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCCCACACACCACACACCCCACACACACCACACC CCATACACACCACACCCCACACACACCACACACCCCCCACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACA CCCCCCACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCATACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCATACACACCACACACCCCCCACACACCACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCATACACACCACACACCCCCCACACACCACA CCCCATACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACCACACCCCACACACACCACACACCCCACACACACCACACC CCACACACACCACACACCCCCCACACACCACACCCCATACACACCACACC CCACACACACCACACACCCCACACACACCACACACCCCACACACACCACA CAAACCACACACCCTACACACCCCACACACACCA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	338	0.0030	783	c.35 others(802): Show c.35+21490_*35+21491insCACACACCCCCCACACACCACACACC ATACACACCACACCCCACACACACCACACCCCCCACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCCCACACACCACACACCCC ACACACACCACACCCCATACACACCACACCCCACACACACCACACACCCC CCACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACACCCCCCACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ATACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCATACACACCACACACCCCCCACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACACCCCATACACACCACACACC CCCCACACACCACACCCCATACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACCACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACACCCCCCACACACCACACCCC ATACACACCACACCCCACACACACCACACACCCCACACACACCACACACC CCACACACACCACACAAACCACACACCCTACACACCCCACACACACCACA CACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870214	C C	CCACACAC others(776): Show CCACACACACCACACACCCCCCACACACCACACACCATACACACCACACC CCACACACACCACACCCCCCACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCCCACACACCACACACCCCACACACACCACACC CCATACACACCACACCCCACACACACCACACACCCCCCACACACCACACA CCCCACACACACCACACCCCATACACACCACACACCACACACACCACACA CCCCCCACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCATACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCATACACACCACACACCCCCCACACACCACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCATACACACCACACACCCCCCACACACCACA CCCCATACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACCACACCCCACACACACCACACACCCCACACACACCACACC CCACACACACCACACACCCCCCACACACCACACCCCATACACACCACACC CCACACACACCACACACCCCACACACACCACACACCACACACACACCACA CAAACCACACACCCTACACACCCCACACACACCA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	338	0.0030	783	c.35 others(802): Show c.35+21490_*35+21491insCACACACCCCCCACACACCACACACC ATACACACCACACCCCACACACACCACACCCCCCACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCCCACACACCACACACCCC ACACACACCACACCCCATACACACCACACCCCACACACACCACACACCCC CCACACACCACACACCCCACACACACCACACCCCATACACACCACACACC ACACACACCACACACCCCCCACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ATACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCATACACACCACACACCCCCCACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACACCCCATACACACCACACACC CCCCACACACCACACCCCATACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACCACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACACCCCCCACACACCACACCCC ATACACACCACACCCCACACACACCACACACCCCACACACACCACACACC ACACACACACCACACAAACCACACACCCTACACACCCCACACACACCACA CACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870214	C C	CCACACAC others(776): Show CCACACACACCACACACCCCCCACACACCACACACCATACACACCACACC CCACACACACCACACCCCCCACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCCCACACACCACACACCCCACACACACCACACC CCATACACACCACACCCCACACACACCACACACCCCCCACACACCACACA CCCCACACACACCACACCCCATACACACCACACACCACACACACCACACA CCCCCCACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCATACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCATACACACCACACACCCCCCACACACCACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCATACACACCACACACCCCCCACACACCACA CCCCATACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACCACACCCCACACACACCACACACCCCACACACACCACACC CCACACACACCACACACCCCCCACACACCACACCCCATACACACCACACC CCACACACACCACACACCCCACACACACCACACACCCCACACACACCACA CAAACCACACACCCTACACACCCCACACACACCA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18986.hp1 NA18985.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0285 a0001c0001t0001g0069 a0001c0001t0001g0285	2	338	0.0059	783	c.35 others(802): Show c.35+21490_*35+21491insCACACACCCCCCACACACCACACACC ATACACACCACACCCCACACACACCACACCCCCCACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCCCACACACCACACACCCC ACACACACCACACCCCATACACACCACACCCCACACACACCACACACCCC CCACACACCACACACCCCACACACACCACACCCCATACACACCACACACC ACACACACCACACACCCCCCACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ATACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCATACACACCACACACCCCCCACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACACCCCATACACACCACACACC CCCCACACACCACACCCCATACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACCACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACACCCCCCACACACCACACCCC ATACACACCACACCCCACACACACCACACACCCCACACACACCACACACC CCACACACACCACACAAACCACACACCCTACACACCCCACACACACCACA CACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870214	C C	CCACACAC others(776): Show CCACACACACCACACACCCCCCACACACCACACACCATACACACCACACC CCACACACACCACACCCCCCACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCCCACACACCACACACCCCACACACACCACACC CCATACACACCACACCCCACACACACCACACACCCCCCACACACCACACA CCCCACACACACCACACCCCATACACACCACACCCCACACACACCACACA CCCCCCACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCATACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCATACACACCACACACCCCCCACACACCACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCATACACACCACACACCCCCCACACACCACA CCCCATACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACCACACCCCACACACACCACACACCCCACACACACCACACC CCACACACACCACACACCCCCCACACACCACACCCCATACACACCACACC CCACACACACCACACACCCCACACACACCACACACCCCACACACACCACA CAAACCACACACCCTACACACCCCACACACACCA	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18612.hp2 NA18942.hp1 others(10): Show HG00621.hp1 NA18612.hp2 NA18942.hp1 NA18944.hp1 NA18947.hp1 NA18971.hp2 NA18973.hp1 NA18983.hp1 NA19004.hp1 NA19057.hp2 NA19068.hp1 NA19074.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(9): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0046 a0001c0001t0001g0111 a0001c0001t0001g0126 a0001c0001t0001g0166 a0001c0001t0001g0273 a0001c0001t0002g0029 a0001c0001t0002g0135 a0001c0001t0002g0141 a0001c0001t0003g0002	13	338	0.0385	783	c.35 others(802): Show c.35+21490_*35+21491insCACACACCCCCCACACACCACACACC ATACACACCACACCCCACACACACCACACCCCCCACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCCCACACACCACACACCCC ACACACACCACACCCCATACACACCACACCCCACACACACCACACACCCC CCACACACCACACACCCCACACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCCCACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ATACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCATACACACCACACACCCCCCACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACACCCCATACACACCACACACC CCCCACACACCACACCCCATACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACCACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACACCCCCCACACACCACACCCC ATACACACCACACCCCACACACACCACACACCCCACACACACCACACACC CCACACACACCACACAAACCACACACCCTACACACCCCACACACACCACA CACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870214	C C	CCACACAC others(776): Show CCACACACACCACACACCCCCCACACACCACACACCATACACACCACACC CCACACACACCACACCCCCCACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCCCACACACCACACACCCCACACACACCACACC CCATACACACCACACCCCACACACACCACACACCCCCCACACACCACACA CCCCACACACACCACACCCCATACACACCACACCCCACACACACCACACA CCCCCCACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACTACACCCCATACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCATACACACCACACACCCCCCACACACCACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCATACACACCACACACCCCCCACACACCACA CCCCATACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACCACACCCCACACACACCACACACCCCACACACACCACACC CCACACACACCACACACCCCCCACACACCACACCCCATACACACCACACC CCACACACACCACACACCCCACACACACCACACACCCCACACACACCACA CAAACCACACACCCTACACACCCCACACACACCA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	338	0.0030	783	c.35 others(802): Show c.35+21490_*35+21491insCACACACCCCCCACACACCACACACC ATACACACCACACCCCACACACACCACACCCCCCACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCCCACACACCACACACCCC ACACACACCACACCCCATACACACCACACCCCACACACACCACACACCCC CCACACACCACACACCCCACACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCCCACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACTACACCCC ATACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCATACACACCACACACCCCCCACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACACCCCATACACACCACACACC CCCCACACACCACACCCCATACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACCACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACACCCCCCACACACCACACCCC ATACACACCACACCCCACACACACCACACACCCCACACACACCACACACC CCACACACACCACACAAACCACACACCCTACACACCCCACACACACCACA CACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(776): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACAT ATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAA ATATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTT ATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTA GTTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTA GTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATA TTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAATTTATAGATAAAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18988.hp1 NA19063.hp2 NA18957.hp1 NA18988.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010	a0001c0001t0004g0170 a0001c0001t0006g0171 a0001c0001t0010g0168 a0001c0001t0004g0170 a0001c0001t0006g0171 a0001c0001t0010g0168	3	250	0.0120	783	c.82+ others(798): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATA TATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATT TATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATA TATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAA TATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTA TAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTA TAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTA TAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTA TAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAG TTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATAT TTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTTT ATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(776): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCTTC CCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCC CCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCCTTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCC CCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTTCCCTTTCCCCCCTTTCC CCCTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0138 a0001c0001t0008g0138	1	246	0.0041	783	c.-10 others(800): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCC CCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCC CCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTC CCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCC TTTTCCCTTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTT CCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZNF30_chr19_34921903_34950168	34923077	A A	ATATATAA others(776): Show ATATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGT TATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACA TAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGT ATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGT TATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACT TGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATA ACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATAT TGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTA TGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATA ACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTAT ATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTA TATTGTATATAACATAACTTGTTATGTTATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG06807.hp2 HG02109.hp2 HG06807.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0010 a0004c0004t0005 a0002c0002t0010 a0004c0004t0005	a0002c0002t0010g0227 a0004c0004t0005g0016 a0002c0002t0010g0227 a0004c0004t0005g0016	2	412	0.0049	783	c.-42 others(794): Show c.-4204_-4203insTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACAT AACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTA TATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTT ATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTT GTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAA CATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATT GTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGT TATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACA TAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTG	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		3825		chr19	TogoVar
ACAP3_chr1_1287391_1312930	1288356	T T	TCTGCTCC others(777): Show TCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTG CCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CCCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	295	0.0034	784	c.52 others(795): Show c.5207_*5208insGGACACGGGACGGAGCAGAGACACGGGACGGAGC AGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACG GAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGG GACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAG ACACGGGACGGAGCAGACACGGGGGACGGAGCAGAGACACGGGACGGAGC AGAGACACGGGACGGAGCAGAGACTCGGGGGACGGAGCAGAGACACGGGA CGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACAC GGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAG ACACGGGACGGAGCAGAGACTCGGGGGACGGAGCAGAGACACGGGACGGG GCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGA CGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACAC GGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAG AGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGG GCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGA CGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGAC ACGGGACGGAGCAGGGACACGGGACGGGGCAGAGACACGGGACGGAGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4034		chr1	TogoVar
ACTN2_chr1_236681499_236769631	236755771	A A	AATAGAGT others(777): Show AATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTA ATAGAGTATATACTGCAGAGGGCCCGCTGCCACCGTTAGAACCCTGGTAA TAGAGTATATACTGCAGAGGGCCCGCTGCCACCATTAGAACCCTGGTAAT AGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATA GAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTTATAG AGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGA GTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAG TATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGT ATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTA TATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTAT ATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATA TACTGCAGAGTGCCCGCTGCCACCATTAGAACCCTGGTAATAGAGTATAT ACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATA CTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATAC TGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACT GCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	344	0.0029	784	c.215 others(801): Show c.2154+593_2154+594insGGCCCGCTGCCACTGTTAGAACCCTGGT AATAGAGTATATACTGCAGAGGGCCCGCTGCCACCGTTAGAACCCTGGTA ATAGAGTATATACTGCAGAGGGCCCGCTGCCACCATTAGAACCCTGGTAA TAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAAT AGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTTATA GAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAG AGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGA GTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAG TATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGT ATATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTA TATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTAT ATACTGCAGAGTGCCCGCTGCCACCATTAGAACCCTGGTAATAGAGTATA TACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATAT ACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATA CTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATAC TGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATATACT GCAGAG	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236755771	A A	AATAGAGT others(777): Show AATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTA ATAGAGTATATACTGCAGAGGGCCCGCTGCCACCGTTAGAACCCTGGTAA TAGAGTATATACTGCAGAGGGCCCGCTGCCACCATTAGAACCCTGGTAAT AGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATA GAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTTATAG AGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGA GTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAG TATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGT ATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTA TATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTAT ATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATA TACTGCAGAGTGCCCGCTGCCACCATTAGAACCCTGGTAATAGAGTATAT ACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATA CTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATAC TGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACT GCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0329 a0001c0001t0003g0329	1	344	0.0029	784	c.215 others(801): Show c.2154+593_2154+594insGGCCCGCTGCCACTGTTAGAACCCTGGT AATAGAGTATATACTGCAGAGGGCCCGCTGCCACCGTTAGAACCCTGGTA ATAGAGTATATACTGCAGAGGGCCCGCTGCCACCATTAGAACCCTGGTAA TAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAAT AGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTTATA GAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAG AGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGA GTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAG TATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGT ATATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTA TATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTAT ATACTGCAGAGTGCCCGCTGCCACCATTAGAACCCTGGTAATAGAGTATA TACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATAT ACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATA CTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATAC TGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATATACT GCAGAG	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236755771	A A	AATAGAGT others(777): Show AATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTA ATAGAGTATATACTGCAGAGGGCCCGCTGCCACCGTTAGAACCCTGGTAA TAGAGTATATACTGCAGAGGGCCCGCTGCCACCATTAGAACCCTGGTAAT AGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATA GAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTTATAG AGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGA GTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAG TATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGT ATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTA TATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTAT ATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATA TACTGCAGAGTGCCCGCTGCCACCATTAGAACCCTGGTAATAGAGTATAT ACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATA CTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATAC TGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACT GCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00544.hp1 others(33): Show HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00673.hp1 HG01175.hp1 HG01261.hp1 HG02027.hp2 HG02083.hp1 HG02602.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG03492.hp1 HG03831.hp1 HG04115.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18950.hp2 NA18955.hp2 NA18960.hp2 NA18967.hp2 NA18969.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA19000.hp2 NA19003.hp1 NA19009.hp1 NA19062.hp2 NA19063.hp2 NA19068.hp1 NA19072.hp1 NA19077.hp1 NA19086.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0016 a0005c0033	a0001c0001t0003 a0001c0003t0003 a0001c0009t0003 others(2): Show a0001c0001t0003 a0001c0003t0003 a0001c0009t0003 a0001c0016t0003 a0005c0033t0003	a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 others(33): Show a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0111 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0143 a0001c0001t0003g0147 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0202 a0001c0001t0003g0207 a0001c0001t0003g0238 a0001c0001t0003g0249 a0001c0001t0003g0266 a0001c0001t0003g0279 a0001c0001t0003g0284 a0001c0001t0003g0324 a0001c0001t0003g0336 a0001c0001t0003g0339 a0001c0001t0003g0343 a0001c0003t0003g0058 a0001c0009t0003g0012 a0001c0009t0003g0013 a0001c0009t0003g0038 a0001c0016t0003g0108 a0005c0033t0003g0169	36	344	0.1047	784	c.215 others(801): Show c.2154+593_2154+594insGGCCCGCTGCCACTGTTAGAACCCTGGT AATAGAGTATATACTGCAGAGGGCCCGCTGCCACCGTTAGAACCCTGGTA ATAGAGTATATACTGCAGAGGGCCCGCTGCCACCATTAGAACCCTGGTAA TAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAAT AGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTTATA GAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAG AGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGA GTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAG TATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGT ATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTA TATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTAT ATACTGCAGAGTGCCCGCTGCCACCATTAGAACCCTGGTAATAGAGTATA TACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATAT ACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATA CTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATAC TGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATATACT GCAGAG	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236755771	A A	AATAGAGT others(777): Show AATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTA ATAGAGTATATACTGCAGAGGGCCCGCTGCCACCGTTAGAACCCTGGTAA TAGAGTATATACTGCAGAGGGCCCGCTGCCACCATTAGAACCCTGGTAAT AGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATA GAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTTATAG AGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGA GTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAG TATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGT ATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTA TATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTAT ATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATA TACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATAT ACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATA CTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATAC TGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACT GCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03710.hp2 HG03017.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0299 a0001c0001t0003g0104 a0001c0001t0003g0299	2	344	0.0058	784	c.215 others(801): Show c.2154+593_2154+594insGGCCCGCTGCCACTGTTAGAACCCTGGT AATAGAGTATATACTGCAGAGGGCCCGCTGCCACCGTTAGAACCCTGGTA ATAGAGTATATACTGCAGAGGGCCCGCTGCCACCATTAGAACCCTGGTAA TAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAAT AGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTTATA GAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAG AGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGA GTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAG TATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGT ATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTA TATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTAT ATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATA TACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATAT ACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATA CTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATAC TGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATATACT GCAGAG	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236755771	A A	AATAGAGT others(777): Show AATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTA ATAGAGTATATACTGCAGAGGGCCCGCTGCCACCGTTAGAACCCTGGTAA TAGAGTATATACTGCAGAGGGCCCGCTGCCACCATTAGAACCCTGGTAAT AGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATA GAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTTATAG AGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGA GTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAG TATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGT ATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTA TATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTAT ATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATA TACTGCAGAGTGCCCGCTGCCACCATTAGAACCCTGGTAATAGAGTATAT ACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATA CTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATAC TGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACT GCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0268 a0001c0001t0003g0268	1	344	0.0029	784	c.215 others(801): Show c.2154+593_2154+594insGGCCCGCTGCCACTGTTAGAACCCTGGT AATAGAGTATATACTGCAGAGGGCCCGCTGCCACCGTTAGAACCCTGGTA ATAGAGTATATACTGCAGAGGGCCCGCTGCCACCATTAGAACCCTGGTAA TAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAAT AGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTTATA GAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAG AGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGA GTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAG TATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGT ATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTA TATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTAT ATACTGCAGAGTGCCCGCTGCCACCATTAGAACCCTGGTAATAGAGTATA TACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATAT ACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATA CTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATAC TGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATATACT GCAGAG	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236755771	A A	AATAGAGT others(777): Show AATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTA ATAGAGTATATACTGCAGAGGGCCCGCTGCCACCGTTAGAACCCTGGTAA TAGAGTATATACTGCAGAGGGCCCGCTGCCACCGTTAGAACCCTGGTAAT AGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATA GAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTTATAG AGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGA GTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAG TATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGT ATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTA TATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTAT ATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATA TACTGCAGAGTGCCCGCTGCCACCATTAGAACCCTGGTAATAGAGTATAT ACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATA CTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATAC TGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACT GCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0125 a0001c0003t0021g0125	1	344	0.0029	784	c.215 others(801): Show c.2154+593_2154+594insGGCCCGCTGCCACTGTTAGAACCCTGGT AATAGAGTATATACTGCAGAGGGCCCGCTGCCACCGTTAGAACCCTGGTA ATAGAGTATATACTGCAGAGGGCCCGCTGCCACCGTTAGAACCCTGGTAA TAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAAT AGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTTATA GAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAG AGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGA GTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAG TATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGT ATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTA TATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTAT ATACTGCAGAGTGCCCGCTGCCACCATTAGAACCCTGGTAATAGAGTATA TACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATAT ACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATA CTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATAC TGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATATACT GCAGAG	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756849	T T	AATAGAGT others(777): Show AATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTA ATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTTA TAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAAT AGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACGCTGGTAATA GAGTATATACTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTAATAG AGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTTATAGA GTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAG TATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGT ATATACTGCAGAGTGCCTGCTGCCACTGTTAGAACCCTGGTAATAGAGTA TATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTAT ATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATA TACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTTATAGAGTATAT ACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATA CTGCAGAGTGCCCGCTGCCACTGTTAGAACGCTGGTAATAGAGTATATAC TGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACT GCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0012 a0001c0009t0003g0012	1	344	0.0029	784	c.215 others(801): Show c.2155-638_2155-637insAATAGAGTATATACTGCAGAGTGCCCGC TGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCT GCCACTGTTAGAACCGTGGTTATAGAGTATATACTGCAGAGTGCCCGCTG CCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGC CACTGTTAGAACGCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCC ACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCA CTGTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCAC TGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACT GTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCTGCTGCCACTG TTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGT TAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTT AGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTA GAACCGTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAG AACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGA ACGCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTTAGAA CCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAAC CCTGGT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20			chr1	TogoVar
ARHGAP18_chr6_129571132_129715177	129619468	G G	GGGGGAGG others(777): Show GGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGAA AAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGGA AGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGGG GAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGAAAACAGA GGGAGAGGATGAAGGGGAAGGGGGAAAACAGAGGGAGAGGATGAAGGGGA AGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGAG GGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGAA GGGGGATGGGGAAGGGGGATGGGGGTGGGGAAGGGGGAGGGGGAGGGGAT GGGGAGGGGGGAGGGGAGGGGGATAGGGAAGGGGGATGGGGTGGGGAAGG GGAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGAGG GGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGTGGAAGGGGG ATGGGGAAGGGGGAAGGGGGATGAGGAAGGGGGAAGGGGGATGGGGAAGG GGGATAGGGAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGATGGGGAA GGGGGATGGGGAAGGGGGGAAGGGGGATGGGGAAGGGGGAAGGTCGATGG GGAAGGGGGATGGGGAAGGGGAGGGGGAGGGGGAAGGGGAGGGGGAGGGG GAAGGGGGATGGGGAGGGGGAGGAGGAAGGGGGAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0071 a0001c0001t0009g0071	1	238	0.0042	784	c.787 others(799): Show c.787-617_787-616insATCCCCCTTCCTCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCATCCCC CTTCCCCATCGACCTTCCCCCTTCCCCATCCCCCTTCCCCCCTTCCCCAT CCCCCTTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCCT ATCCCCCTTCCCCATCCCCCTTCCCCCTTCCTCATCCCCCTTCCCCCTTC CCCATCCCCCTTCCACCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCC CTTCCCCTCCCCTTCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCC CCTCCCCTTCCCCACCCCATCCCCCTTCCCTATCCCCCTCCCCTCCCCCC TCCCCATCCCCTCCCCCTCCCCCTTCCCCACCCCCATCCCCCTTCCCCAT CCCCCTTCGCCTCCCCCTCCCCTCCACCTCCCCATCCCCTCCACCTCCCC ATCCCCTCCACGTCCCCCTCCCCTCCAACCTCCCCCTCCCCTCCAACCTC CCCCTTCCCCTTCATCCTCTCCCTCTGTTTTCCCCCTTCCCCTTCATCCT CTCCCTCTGTTTTCCCCCTTCTCTTTCCCCTCCCCTTCCCCTCCCCTTTC TCCTCCCCTTCCATTCCCGTTTCTCCTCCCTTTCCCCTCCCCTTTCCCCT CCCCTTCCCCTCCCCTTTTGCCTCCCATTTCCCCTCCCGTTTCCCCTCCC CTTTTTTCTCTCCCCTTTTTCCTCTCCTTTTTCCCTCTCCCTCCTCCCCT CCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	A A	AGAGCAGC others(777): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCA AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAC AGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCA GAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCA GGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTA GACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0091 a0001c0016t0001g0091	1	246	0.0041	784	c.298 others(801): Show c.2981-321_2981-320insCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCT GCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCC TTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGC CTTTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCT GCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	A A	AGAGCAGC others(777): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCA AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAC AGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCA GAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCA GGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTA GACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0119 a0001c0002t0001g0119	1	246	0.0041	784	c.298 others(801): Show c.2981-321_2981-320insCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TCGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ATP10A_chr15_25673712_25868327	25758253	A A	ACTCATTC others(777): Show ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTC CGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCAC CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0001	a0011c0008t0001g0197 a0011c0008t0001g0197	1	300	0.0033	784	c.655 others(803): Show c.655-22113_655-22112insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGA GCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGC AGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGG TGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAG GGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATG AGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATC GGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758725	C C	CCTAACTC others(777): Show CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCCAT CACCTGCTCCACCCTAACTCATTCCCACCACCTGCTCCACCCTAACTCAT TCCTATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTA ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCA CCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	300	0.0033	784	c.654 others(803): Show c.654+22293_654+22294insTTAGGGTGGAGCAGGTGGTCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGG TGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGA GCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAG GGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAG GTGATAGGAATGAGTTAGGGTGGAGCAGGTGGTGGGAATGAGTTAGGGTG GAGCAGGTGATGGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
C1QTNF8_chr16_1083226_1101244	1093004	C C	CGTGCACA others(777): Show CGTGCACACAGTCAGCGCTCAACCAATCACAGCACACAGTCGGCGCTCAA CCAATCACTGCACACAGTCGGCGCTCAACCAATCCGTGCACACAGTCGGC GCTCAACCAATCCCTGCACACAGTCGGCGCTCAACAAATCACAGCACACA GTCGGCGCTCAATCAATCCCTGCACACAGTCGGCGCTCAACGAATCCCTG CACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGCGCTCAACCAA TCCCTGCACACAGTCGGCGCTCAACAAATCACAGCACACAGTCGGCGCTC AATCAATCCCTGCACACAGTCGGCGCTCAACCAATCCGTGCACACAGTCG GCGCTCAACCAATCACTGCACACAGTCGGCGCTCAACCAATCACAGCACA CAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGCGCTCAACGAATCCG TGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCCGCGCTCAACC AATCCCTGCACACAGTCGGCGCTCAACAAATCACAGCACACAGTCGGCGC TCAATCAATCCCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGT CGGCGCTCAACCAATCACTGCACACAGTCGGCGCTCAACCAATCACAGCA CACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGTGCTCAACAAATC ACAGCACACAGTCGGCGCTCAATCAATTCCTGCACACAGTCGGCGCTCAA CCAATCACAGCACACAGTCGGCGCTCAACCAATCA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0115 a0001c0001t0041g0115	1	396	0.0025	784	c.4+ others(797): Show c.4+492_*4+493insTGATTGGTTGAGCGCCGACTGTGTGCTGTGAT TGGTTGAGCGCCGACTGTGTGCAGGAATTGATTGAGCGCCGACTGTGTGC TGTGATTTGTTGAGCACCGACTGTGTGCAGGGATTGGTTGAGCGCCGACT GTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAGTGATTGGTTGAGCG CCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGAT TGAGCGCCGACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGGG ATTGGTTGAGCGCGGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGT GCACGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGA CTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAGTGATTGGTTGAG CGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTG ATTGAGCGCCGACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAG GGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGT GTGCAGGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCC GACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGGGATTGGTTG AGCGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGTGAT TGGTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCTGACTGTGTGC AC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C1QTNF8_chr16_1083226_1101244	1093202	A A	AGCACACA others(777): Show AGCACACAGTCGACGCTCAACCAATCACAGCACACAGTCGGCGTTCAACC AATCACAGCACACAGTCGGCGTTCAACCAATCCCTGCACACAGTCGGCGC TCAACCAATCACAGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGT CGGCGCTCAACCAATCCCTGCACACAGTCGGCGTTCAACCAATCCCTGCA CACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGTTCAACCAATC ACAGCACACAGTCGGCACTCAACCAATCACAGCACACAGTCGGCGTTCAA CCAATCCCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGC GCTCAGCCAATCACTGCACACAGTCGGCGCTCAACCAATCCGTGCACACA GTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAACCAATCACAG CACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGCGCTCAACGAA TCCCTGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGCGCTC AACCAATCCCTGCACACAGTCGGCGCTCAACAAATCACAGCACACAGTCG GCGCTCAATCAATCCCTGCACACAGTCGGCGCTCAACCAATCCGTGCACA CAGTCGGTGCTCAACCAATCACTGCACACAGTCGGCGCTCAACCAATCAC AGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGTGCTCAACA AATCACAGCACACCGTCGGCGCTCAATCAATTCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG01175.hp1 others(26): Show HG00642.hp1 HG00733.hp2 HG01175.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG02055.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02559.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03540.hp1 HG03669.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0016 a0001c0001t0017 others(2): Show a0001c0001t0005 a0001c0001t0016 a0001c0001t0017 a0001c0001t0029 a0001c0001t0054	a0001c0001t0005g0004 a0001c0001t0005g0075 a0001c0001t0005g0129 others(7): Show a0001c0001t0005g0004 a0001c0001t0005g0075 a0001c0001t0005g0129 a0001c0001t0005g0139 a0001c0001t0005g0144 a0001c0001t0016g0041 a0001c0001t0016g0143 a0001c0001t0017g0026 a0001c0001t0029g0065 a0001c0001t0054g0160	29	396	0.0732	784	c.4+ others(797): Show c.4+294_*4+295insAGGAATTGATTGAGCGCCGACGGTGTGCTGTG ATTTGTTGAGCACCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGTGT GCTGTGATTGGTTGAGCGCCGACTGTGTGCAGTGATTGGTTGAGCACCGA CTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAG CGCCGACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGGGATTG GTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGTGCAG GGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGT GTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGGTTGAGCGCC GACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGTGATTGGCTG AGCGCCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGTGTGCAGGGAT TGGTTGAACGCCGACTGTGTGCTGTGATTGGTTGAGTGCCGACTGTGTGC TGTGATTGGTTGAACGCCGACTGTGTGCAGGGATTGGTTGAGCGCCGACT GTGTGCAGGGATTGGTTGAACGCCGACTGTGTGCAGGGATTGGTTGAGCG CCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGTGTGCTGTGATTGGT TGAGCGCCGACTGTGTGCAGGGATTGGTTGAACGCCGACTGTGTGCTGTG ATTGGTTGAACGCCGACTGTGTGCTGTGATTGGTTGAGCGTCGACTGTGT GC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(777): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCA AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAC AGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCA GAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCA GGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTA GACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	784	c.-22 others(795): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATG TCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCG TGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGC CGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCT GCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCCTG TGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCTGCCA others(777): Show ACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCACCTTCCC ATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCAC CTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCACCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATTC TCACCTGCCACAGCTCACCTTCCCATTCTCACCTGCCACAGCTCACCTTC CTATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCC ACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCCATCCTCACCTGC CACGGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGCCC CCTCGCCTGCCACAGCTCACCTTCCTGTCCCCTCGCCTGCCACGGCCCAC CTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGC CACAGCTCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGTCC CCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCAC CTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGTCCCCTCACCTGC CACGGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGCCC CCTCGCCTGCCACAGCTCACCTTCCTGTCCCCTCG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0189 a0001c0006t0001g0189	1	284	0.0035	784	c.411 others(801): Show c.4112+674_4112+675insCGAGGGGACAGGAAGGTGAGCTGTGGCA GGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTG GGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAGGCGAGGGGA CAGGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCA GGTGAGGGGACAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTG AGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGG CAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGAGCTGTGGCA GGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTG GGCCGTGGCAGGTGAGGATGGGAAGGTGGGCCGTGGCAGGTGAGGGGACA GGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTG AGGATAGGAAGGTGAGCTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGG CAGGTGAGAATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAG CTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAA GGTGAGCTGTGGTGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGA TGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGG TGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGT GGCAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCS_chr11_66588185_66611019	66598463	G G	GAGATTGT others(777): Show GAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCT CAAAAAAATAAAAAAATAAATTTAAAAAAATAGAGAAAGAAAATAGATTG GTGGCAGGGGTGGAAGAATAGGAGGGTGATAGCTAAGGGATATAGGATTT CCTTTCCTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTAGAGACGGAGTCTCACTTTTTCACCCAGGCTGGAGTGCAGTGGT GCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAGTTCTTG TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCCCCTTGTCT GGCAAATTTTTATATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAG GCTGGTCTCAACCTCCTGACCTCAGGTGATCCACCCATGTCGCCCTCCCA AACTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTATTTTGTTCT TTTTGTTTGTTTTATTCCGTATCGGAGTCTTGCTCTGTCACCCAGGCTGG AGTGCATTGACATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGC CAAGGTGGGTGGATTACCTGAGGCCAGGGGTTCGAGACCAGCCTGGCCAA CATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGG TGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATT GCTTGAATCTAGCAGGTGGAGGTTGCAGTGAGCCA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03225.hp1 HG03098.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0133 a0001c0001t0001g0066 a0001c0001t0001g0133	2	404	0.0050	784	c.113 others(799): Show c.113-649_113-648insTGTGCCACTGCACTCCAGCCTGGGTGACAG AGCGAGACTCCATCTCAAAAAAATAAAAAAATAAATTTAAAAAAATAGAG AAAGAAAATAGATTGGTGGCAGGGGTGGAAGAATAGGAGGGTGATAGCTA AGGGATATAGGATTTCCTTTCCTTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTAGAGACGGAGTCTCACTTTTTCACCCAGG CTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGG TTCAAGCAGTTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTG TGCACCCCCTTGTCTGGCAAATTTTTATATTTTTGGTAGAGACAGGGTTT CACCATGTTGGCCAGGCTGGTCTCAACCTCCTGACCTCAGGTGATCCACC CATGTCGCCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACCGCACCC GGCCTATTTTGTTCTTTTTGTTTGTTTTATTCCGTATCGGAGTCTTGCTC TGTCACCCAGGCTGGAGTGCATTGACATGGTGGCTCACGCCTGTAATCCT AGCACTTTGGGAGGCCAAGGTGGGTGGATTACCTGAGGCCAGGGGTTCGA GACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAA ATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATTGCTTGAATCTAGCAGGTGGAGGTTGCAGTGAGCCA AGAT	CCS	ENSG00000173992.9	transcript	ENST00000533244.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(777): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG03041.hp1 HG02965.hp1 HG03041.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0007 a0007c0008t0100 a0007c0008t0007 a0007c0008t0100	a0007c0008t0007g0143 a0007c0008t0100g0314 a0007c0008t0007g0143 a0007c0008t0100g0314	2	334	0.0060	784	c.-25 others(795): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(777): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTA GTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGT GGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTA GTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0240 a0001c0001t0010g0240	1	334	0.0030	784	c.-25 others(795): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAC CACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065194	A A	ATAGTATT others(777): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTG GTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGT AGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAG TATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0206 a0002c0003t0001g0206	1	334	0.0030	784	c.-26 others(795): Show c.-2678_-2677insCCACCTCTTAATACTACCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAAT ACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATAC TACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTA CCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2329		chr11	TogoVar
CFAP46_chr10_132803392_132947570	132826381	A A	AGAGCCAC others(777): Show AGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGAACCAGAGCCACAGAG ACCAGCCATGGAGCCAGGCAGGAGCCGGAGCCATGGAGCCAGGCAGGAGC CAGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCACGGA GACCAGCCACGGAGCCAGGGAGGAGCCGGAGCCACAGAGACCAGCCACGG AGCCAGGCAGGGGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCAGGA GCCGGAGCCGCAGAGACCCACCACAGAGCCAGGCAGGAGTCGGAGCCACG GAGCCAGGCAGGAACTGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGG AGCCAGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGAACCAGAGCCAC AGAGACCAGCCACGGAGCCAGGCAGGAGCCAGAGCCATGGAGCCAGGCAG GAGCCGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCA CGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCACAGAGACCAGCC ACGGAGCCAGGCAGGGGCCAGAGCCACGGAGACCAGCCACGGAGCCAGGC AGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGC CACGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAG CCACGGAGCCAGGCAGGAGCCGGAGCCGCAGAGACCCACCACAGAGCCAG GCAGGAGTCGGAGCCACGGAGCCAGGCAGGAACTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0225 a0004c0005t0001g0225	1	246	0.0041	784	c.711 others(803): Show c.7117+6976_7117+6977insCAGTTCCTGCCTGGCTCCGTGGCTCC GACTCCTGCCTGGCTCTGTGGTGGGTCTCTGCGGCTCCGGCTCCTGCCTG GCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCCTGGCTCCGTGGCTG GTCTCCGTGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCT CCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCTGGCCCCTGCC TGGCTCCGTGGCTGGTCTCTGTGGCTCCGGCTCCTGCCTGGCTCCGTGGC TGGTCTCCGTGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGG CTCCGGCTCCTGCCTGGCTCCATGGCTCTGGCTCCTGCCTGGCTCCGTGG CTGGTCTCTGTGGCTCTGGTTCCTGCCTGGCTCCGTGGCTGGTCTCTGTG GCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCCAGTTCCT GCCTGGCTCCGTGGCTCCGACTCCTGCCTGGCTCTGTGGTGGGTCTCTGC GGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCCCC TGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCCGGCTCCTCCCTGGCTCCG TGGCTGGTCTCCGTGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCT GTGGCTCTGGCTCCTGCCTGGCTCCATGGCTCCGGCTCCTGCCTGGCTCC ATGGCTGGTCTCTGTGGCTCTGGTTCCTGCCTGGCTCCGTGGCTGGTCTC TGTGGCTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132826457	G G	GGAGCCAT others(777): Show GGAGCCATGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCACGGAG CCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGGAGGAGC CGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGGGCCGGAGCCACGGA GACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCGCAGAGACCCACCACAG AGCCAGGCAGGAGTCGGAGCCACGGAGCCAGGCAGGAACTGGAGCCACAG AGACCAGCCACGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCACG GAGCCAGGCAGGAACCAGAGCCACAGAGACCAGCCACGGAGCCAGGCAGG AGCCAGAGCCATGGAGCCAGGCAGGAGCCGGAGCCACAGAGACCAGCCAC GGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCAG GAGCCGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGGGCCAGAGCCA CGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCC ACGGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGC AGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGC CGCAGAGACCCACCACAGAGCCAGGCAGGAGTCGGAGCCACGGAGCCAGG CAGGAACTGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGAGCCAGAG CCACAGAGACCAGCCATGGAGCCAGGCAGGAGCCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG01099.hp2 others(9): Show HG00099.hp2 HG00642.hp2 HG01099.hp2 HG01106.hp1 HG01346.hp1 HG01884.hp1 HG01952.hp1 HG02145.hp2 HG02559.hp1 HG02602.hp2 HG04184.hp2 HG06807.hp1	a0004 a0005 a0041 others(1): Show a0004 a0005 a0041 a0061	a0004c0005 a0005c0013 a0041c0049 others(1): Show a0004c0005 a0005c0013 a0041c0049 a0061c0092	a0004c0005t0001 a0004c0005t0002 a0005c0013t0001 others(2): Show a0004c0005t0001 a0004c0005t0002 a0005c0013t0001 a0041c0049t0001 a0061c0092t0001	a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 others(9): Show a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 a0004c0005t0001g0223 a0004c0005t0001g0226 a0004c0005t0001g0227 a0004c0005t0002g0016 a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0013t0001g0219 a0041c0049t0001g0176 a0061c0092t0001g0125	12	246	0.0488	784	c.711 others(803): Show c.7117+6900_7117+6901insTGGCTCCTGCCTGGCTCCATGGCTGG TCTCTGTGGCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTC CAGTTCCTGCCTGGCTCCGTGGCTCCGACTCCTGCCTGGCTCTGTGGTGG GTCTCTGCGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCT CCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCC TGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCCTGGCTCCGTGGC TGGTCTCCGTGGCTCTGGCCCCTGCCTGGCTCCGTGGCTGGTCTCTGTGG CTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTG CCTGGCTCCGTGGCTGGTCTCTGTGGCTCCGGCTCCTGCCTGGCTCCATG GCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCTGGTTCCT GCCTGGCTCCGTGGCTGGTCTCTGTGGCTCTGGCTCCTGCCTGGCTCCGT GGCTGGTCTCTGTGGCTCCAGTTCCTGCCTGGCTCCGTGGCTCCGACTCC TGCCTGGCTCTGTGGTGGGTCTCTGCGGCTCCGGCTCCTGCCTGGCTCCG TGGCTGGTCTCCGTGGCTCCGGCCCCTGCCTGGCTCCGTGGCTGGTCTCT GTGGCTCCGGCTCCTCCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCT CCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCTGGCTCCTGCCTGGCTC CATGGCTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132826457	G G	GGAGCCAT others(777): Show GGAGCCATGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCACGGAG CCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGGAGGAGC CGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGGGCCGGAGCCACGGA GACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCGCAGAGACCCACCACAG AGCCAGGCAGGAGTCGGAGCCACGGAGCCAGGCAGGAACTGGAGCCACAG AGACCAGCCACGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCACG GAGCCAGGCAGGAACCAGAGCCACAGAGACCAGCCACGGAGCCAGGCAGG AGCCGGAGCCATGGAGCCAGGCAGGAGCCGGAGCCACAGAGACCAGCCAC GGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCAG GAGCCGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGGGCCAGAGCCA CGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCC ACGGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGC AGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGC CGCAGAGACCCACCACAGAGCCAGGCAGGAGTCGGAGCCACGGAGCCAGG CAGGAACTGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGAGCCAGAG CCACAGAGACCAGCCATGGAGCCAGGCAGGAGCCA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0070 a0070	a0070c0074 a0070c0074	a0070c0074t0002 a0070c0074t0002	a0070c0074t0002g0006 a0070c0074t0002g0006	1	246	0.0041	784	c.711 others(803): Show c.7117+6900_7117+6901insTGGCTCCTGCCTGGCTCCATGGCTGG TCTCTGTGGCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTC CAGTTCCTGCCTGGCTCCGTGGCTCCGACTCCTGCCTGGCTCTGTGGTGG GTCTCTGCGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCT CCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCC TGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCCTGGCTCCGTGGC TGGTCTCCGTGGCTCTGGCCCCTGCCTGGCTCCGTGGCTGGTCTCTGTGG CTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTG CCTGGCTCCGTGGCTGGTCTCTGTGGCTCCGGCTCCTGCCTGGCTCCATG GCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCTGGTTCCT GCCTGGCTCCGTGGCTGGTCTCTGTGGCTCTGGCTCCTGCCTGGCTCCGT GGCTGGTCTCTGTGGCTCCAGTTCCTGCCTGGCTCCGTGGCTCCGACTCC TGCCTGGCTCTGTGGTGGGTCTCTGCGGCTCCGGCTCCTGCCTGGCTCCG TGGCTGGTCTCCGTGGCTCCGGCCCCTGCCTGGCTCCGTGGCTGGTCTCT GTGGCTCCGGCTCCTCCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCT CCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCTGGCTCCTGCCTGGCTC CATGGCTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132826457	G G	GGAGCCAT others(777): Show GGAGCCATGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCACGGAG CCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGGAGGAGC CGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGGGCTGGAGCCACGGA GACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCGCAGAGACCCACCACAG AGCCAGGCAGGAGTCGGAGCCACGGAGCCAGGCAGGAACTGGAGCCACAG AGACCAGCCACGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCACG GAGCCAGGCAGGAACCAGAGCCACAGAGACCAGCCACGGAGCCAGGCAGG AGCCAGAGCCATGGAGCCAGGCAGGAGCCGGAGCCACAGAGACCAGCCAC GGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCAG GAGCCGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGGGCCAGAGCCA CGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCC ACGGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGC AGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGC CGCAGAGACCCACCACAGAGCCAGGCAGGAGTCGGAGCCACGGAGCCAGG CAGGAACTGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGAGCCAGAG CCACAGAGACCAGCCATGGAGCCAGGCAGGAGCCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02615.hp1 others(1): Show HG02258.hp1 HG02572.hp2 HG02615.hp1 HG02809.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 others(1): Show a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 a0010c0011t0001g0242	4	246	0.0163	784	c.711 others(803): Show c.7117+6900_7117+6901insTGGCTCCTGCCTGGCTCCATGGCTGG TCTCTGTGGCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTC CAGTTCCTGCCTGGCTCCGTGGCTCCGACTCCTGCCTGGCTCTGTGGTGG GTCTCTGCGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCT CCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCC TGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCCTGGCTCCGTGGC TGGTCTCCGTGGCTCTGGCCCCTGCCTGGCTCCGTGGCTGGTCTCTGTGG CTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTG CCTGGCTCCGTGGCTGGTCTCTGTGGCTCCGGCTCCTGCCTGGCTCCATG GCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCTGGTTCCT GCCTGGCTCCGTGGCTGGTCTCTGTGGCTCTGGCTCCTGCCTGGCTCCGT GGCTGGTCTCTGTGGCTCCAGTTCCTGCCTGGCTCCGTGGCTCCGACTCC TGCCTGGCTCTGTGGTGGGTCTCTGCGGCTCCGGCTCCTGCCTGGCTCCG TGGCTGGTCTCCGTGGCTCCAGCCCCTGCCTGGCTCCGTGGCTGGTCTCT GTGGCTCCGGCTCCTCCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCT CCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCTGGCTCCTGCCTGGCTC CATGGCTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132826457	G G	GGAGCCAT others(777): Show GGAGCCATGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCACGGAG CCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGGAGGAGC CGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGGGCTGGAGCCACGGA GACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCGCAGAGACCCACCACAG AGCCAGGCAGGAGTCGGAGCCACGGAGCCAGGCAGGAACTGGAGCCACAG GGACCAGCCACGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCACG GAGCCAGGCAGGAACCAGAGCCACAGAGACCAGCCACGGAGCCAGGCAGG AGCCAGAGCCATGGAGCCAGGCAGGAGCCGGAGCCACAGAGACCAGCCAC GGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCAG GAGCCGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGGGCCAGAGCCA CGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCC ACGGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGC AGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGC CGCAGAGACCCACCACAGAGCCAGGCAGGAGTCGGAGCCACGGAGCCAGG CAGGAACTGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGAGCCAGAG CCACAGAGACCAGCCATGGAGCCAGGCAGGAGCCA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0010 a0010	a0010c0072 a0010c0072	a0010c0072t0002 a0010c0072t0002	a0010c0072t0002g0004 a0010c0072t0002g0004	1	246	0.0041	784	c.711 others(803): Show c.7117+6900_7117+6901insTGGCTCCTGCCTGGCTCCATGGCTGG TCTCTGTGGCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTC CAGTTCCTGCCTGGCTCCGTGGCTCCGACTCCTGCCTGGCTCTGTGGTGG GTCTCTGCGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCT CCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCC TGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCCTGGCTCCGTGGC TGGTCTCCGTGGCTCTGGCCCCTGCCTGGCTCCGTGGCTGGTCTCTGTGG CTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTG CCTGGCTCCGTGGCTGGTCTCTGTGGCTCCGGCTCCTGCCTGGCTCCATG GCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCTGGTTCCT GCCTGGCTCCGTGGCTGGTCTCTGTGGCTCTGGCTCCTGCCTGGCTCCGT GGCTGGTCCCTGTGGCTCCAGTTCCTGCCTGGCTCCGTGGCTCCGACTCC TGCCTGGCTCTGTGGTGGGTCTCTGCGGCTCCGGCTCCTGCCTGGCTCCG TGGCTGGTCTCCGTGGCTCCAGCCCCTGCCTGGCTCCGTGGCTGGTCTCT GTGGCTCCGGCTCCTCCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCT CCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCTGGCTCCTGCCTGGCTC CATGGCTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(777): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCC CTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCC CCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTC CCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTT CCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCT CCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTC CTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCT CCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0153 a0001c0003t0001g0153	1	270	0.0037	784	c.162 others(805): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCC TCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTC CTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTT CCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCC CCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCC TTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(777): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCC CTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCC CCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTC CCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTT CCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCT CCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTC CTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCT CCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0033 a0001c0003t0033	a0001c0003t0033g0135 a0001c0003t0033g0135	1	270	0.0037	784	c.162 others(805): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCC TCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTC CTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTT CCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCC CCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCC TTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CSF2RA_chrX_1263814_1314935	1297569	G G	GACCCCTA others(777): Show GACCCCTACACTCTCCTACCCATGACCCGTGGCGGAACTGTACAGTCCCC CTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGAGGAACCCTA CAGTCCCCTACTCACGACCCCTACAGTCCCCTACCCATGACCCCTGAGTA ACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCC TGGCAGAACCGTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCA TGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTC CTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTA CAGTCCCCTACCCATGACCCCTGGAGTAACCCTACAGTCCCTACTCACGA CCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTAC TCACGACCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTC CCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCC TACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGC AGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGAC CCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTA CAATCCCCTACTCACAACCCCCGGTGGAACCCCTACAGTCTCCTACCCAT GACCCCTGGTGGAACCCTACAGTCCCCTACTCACA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	159	0.0063	784	c.810 others(801): Show c.810+2122_810+2123insCTCTCCTACCCATGACCCGTGGCGGAAC TGTACAGTCCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCT GGAGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCCCCTACCCAT GACCCCTGAGTAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCT ACCCATGACCCCTGGCAGAACCGTACAGTCCCCTACTCACGACCCCTACA GTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGAC CCCTACAGTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTAC TCACGACCCCTACAGTCCCCTACCCATGACCCCTGGAGTAACCCTACAGT CCCTACTCACGACCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCT ACAGTCCCCTACTCACGACCCTACACTCTCCTACCCATGACCCCTGGCGG AACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCC CTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCC ATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCT CCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGCCGT AGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGGAACCCCTACAG TCTCCTACCCATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACAACC CCTACA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIP2C_chr10_269201_694668	478086	G G	GGGGAAAA others(777): Show GGGGAAAAGAAGAGAGGGGAAGGGAGGGGAAGAGAGGGGAAAAGAAGAGA GGGGAAGGGAGGGGAGGGGAGGGGAAAAGAAGAGAGGGGAAGGGAGGGGA GGGGAGGGGAAAAGAAGAGAGGGGAAGGGAGGGGAGGGGAGGGGAAAAGA AGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGGGAAAAGAAGAGGGGAAG GGAGAGGAGGGGAGGGGAAAAGAAGAGGGGAAGGGAGAGGAGGGGAGGGG AAAAGAAGAGAGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGAAGAA GGGAGGGGAAGGGAGAGGGAAGAGAGAAGAAGGGAGAGAGAAGAAGGGAG GGGAAGGGAGAGGGAAGGGAGAGGGAAGAGAGAAGAAGGGAGAGAGAAGA AGGGAGGGGAAGGGAGAGGGAAGAGAGAAGAAGGGAGGGAAAGGGAGGGG AAGGAAGGGGAAGGGAGGAGAGGGGAAGGGAGGAGAAGGGAAGGGAGGAG AGAAGAAGGGAGGGGAAGGAAGGGGAAGGGAGGGGAAGGGAGGGGAGGAG AGGAGGAGGGAGGGGAGGAGAGGAGGAGGGAGGGGAGGAGAGGAGGAGGG AGGGGAGGAGAGGAGGAGGGAGGGGAGGAGAGGAGGAGGGAGGGGAGGGG AGGAGGAGGGAGGGGAGGAGGGAGGGGAGGAGGAGGGAGGGGAGGAGGAG GGAGGGGAGGAGGAGGGAGGGGAGGAGGAGGGAGGGGAGGAGGAGGGAGG GGAGGAGGAGGGAGGGGAGGAGGAGGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0081 a0001c0021t0002g0081	1	88	0.0114	784	c.158 others(801): Show c.158-5538_158-5537insTCCTCCTCCCCTCCTCCTCCCCTCCCTC CTCCTCCCCTCCCTCCTCCTCCCCTCCCTCCTCCTCCCCTCCCTCCTCCT CCCCTCCCTCCTCCTCCCCTCCCTCCTCCTCCCCTCCCTCCTCCCCTCCC TCCTCCTCCCCTCCCCTCCCTCCTCCTCTCCTCCCCTCCCTCCTCCTCTC CTCCCCTCCCTCCTCCTCTCCTCCCCTCCCTCCTCCTCTCCTCCCCTCCC TCCTCCTCTCCTCCCCTCCCTTCCCCTCCCTTCCCCTTCCTTCCCCTCCC TTCTTCTCTCCTCCCTTCCCTTCTCCTCCCTTCCCCTCTCCTCCCTTCCC CTTCCTTCCCCTCCCTTTCCCTCCCTTCTTCTCTCTTCCCTCTCCCTTCC CCTCCCTTCTTCTCTCTCCCTTCTTCTCTCTTCCCTCTCCCTTCCCTCTC CCTTCCCCTCCCTTCTTCTCTCTCCCTTCTTCTCTCTTCCCTCTCCCTTC CCCTCCCTTCTTCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCTCTC TTCTTTTCCCCTCCCCTCCTCTCCCTTCCCCTCTTCTTTTCCCCTCCCCT CCTCTCCCTTCCCCTCTTCTTTTCCCCTCCCCTCCTCTCCCCTCCCTTCC CCTCTCTTCTTTTCCCCTCCCCTCCCCTCCCTTCCCCTCTCTTCTTTTCC CCTCCCCTCCCCTCCCTTCCCCTCTCTTCTTTTCCCCTCCCCTCCCCTCC CTTCCCCTCTCTTCTTTTCCCCTCTCTTCCCCTCCCTTCCCCTCTCTTCT TTTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
ERICH1_chr8_659200_736224	659649	G G	GCATCCTG others(777): Show GCATCCTGGGGAGGGGGTGACCATCGAGATCTCCAGTGTGCACTGACCAT CCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGAGCATCCTG GGGAGGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGG AGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGG GGTGACCATCGAGATCTCCGGTGTGCACTGAGCATCCTGGGGAGGGGGTG ACCATCGAGATCTCCAGTGTGCACTGACCATCCTGGGGAGGGGGTGACCA TCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGA GATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATC TCCGGTGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCG ATGTGCACTGAGCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGT GCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGATGTGCAC TGAGCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGAA TATCCTGGGGAGGGGGGTGACGATCGAGATCTCCAGGGTGCACTGACCAT CCTGGGGAGGGGGTGACCATCGAGATCTCCAGGGTGCACTGACCATCCTG GGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGA GGGGGTGACCATCGAGATCTCCGGTGTGCACTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	378	0.0027	784	c.49 others(795): Show c.4953_*4954insGTCAGTGCACACCGGAGATCTCGATGGTCACCCC CTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCCTCC CCAGGATGGTCAGTGCACCCTGGAGATCTCGATGGTCACCCCCTCCCCAG GATGGTCAGTGCACCCTGGAGATCTCGATCGTCACCCCCCTCCCCAGGAT ATTCAGTGCACACCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGCTC AGTGCACATCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTG CACACCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGCTCAGTGCACA TCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACCGG AGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACCGGAGAT CTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACCGGAGATCTCG ATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACTGGAGATCTCGATGG TCACCCCCTCCCCAGGATGCTCAGTGCACACCGGAGATCTCGATGGTCAC CCCCTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCC TCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCCCTCC CCAGGATGCTCAGTGCACACCGGAGATCTCGATGGTCACCCCCTCCCCAG GATGGTCAGTGCACACTGGAGATCTCGATGGTCACCCCCTCCCCAGGATG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4550		chr8	TogoVar
EXD3_chr9_137301896_137428162	137329823	G G	GGGACTAC others(777): Show GGGACTACACGGGGCTACACGGGACTACACGGGGTGACACGGGACTACAC GGGGCTACACGGGGCTACACGGGACTACACGGGGCTACACGGGGCTACAC GGGACTACACGGGGCTACACGGGAGCTACACGGGACTACACGGGGCTACA CGGGTCTACACGGGACTACACGGGGCTACACGGGAGCTACACGGGACTAC ACGGGGCTACACGGGGCTACACGGGAGCTACACGGGACTACACGGGGCTA CACGGGGCTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGGCT ACACGGGAGCTACACGGGGCTACACGGGGCTACACGGGACTACACGGGGC TACACGGGGCTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGG CTACACGGGAGCTACACGGGGCTACACGGGGCTACACGGGGCTACACGGG ACTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGACTACACGG GGCTACACGGGGCTACACGGGGCTACACGGGACTACACGGGAGCTACACG GGACTACACGGGACTACACGGGACTACACAGGGTCACACGGGACTACACG GGACTACACGGGACTACACAGGAACTACACAGGGTCACACAGGACTACAC CGGAGCTACACGGGACTACACAGGACTACACAGGACTATGCAGGACCACA CAGGAGCTATACAGGAGCTACACGGGACTACACAGGACTACACGGGACTA CACCGGAACTACACAGGGTCACACAGGACTACACA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	82	0.0122	784	c.199 others(803): Show c.1999-5681_1999-5680insTGTGTAGTCCTGTGTGACCCTGTGTA GTTCCGGTGTAGTCCCGTGTAGTCCTGTGTAGTCCCGTGTAGCTCCTGTA TAGCTCCTGTGTGGTCCTGCATAGTCCTGTGTAGTCCTGTGTAGTCCCGT GTAGCTCCGGTGTAGTCCTGTGTGACCCTGTGTAGTTCCTGTGTAGTCCC GTGTAGTCCCGTGTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTAGCTCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCC CGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTC CCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCT CCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCCGTGTAG CCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAG CTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCCGTGT AGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCCGTGTAGCCCCGTG TAGCCCCGTGTAGTCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGTCCCGT GTAGACCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCCGTGTAGCCCCG TGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCG TGTAGCCCCGTGTAGTCCCGTGTCACCCCGTGTAGTCCCGTGTAGCCCCG TGTAGTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329823	G G	GGGACTAC others(777): Show GGGACTACACGGGGCTACACGGGACTACACGGGGTGACACGGGACTACAC GGGGCTACACGGGGCTACACGGGACTACACGGGGCTACACGGGGCTACAC GGGGCTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGACTACA CGGGACTACACGGGGCTACACGGGAGCTACACGGGACTACACGGGGCTAC ACGGGGCTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGGCTA CACGGGAGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGGCT ACACGGGAGCTACACGGGGCTACACGGGGCTACACGGGACTACACGGGGC TACACGGGGCTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGG CTACACGGGAGCTACACGGGGCTACACGGGGCTACACGGGGCTACACGGG ACTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGACTACACGG GGCTACACGGGGCTACACGGGGCTACACGGGACTACACGGGAGCTACACG GGACTACACGGGACTACACGGGACTACACAGGGTCACACGGGACTACACG GGACTACACGGGACTACACAGGAACTACACAGGGTCACACAGGACTACAC CGGAGCTACACGGGACTACACAGGACTACACAGGACTATGCAGGACCACA CAGGAGCTATACAGGAGCTACACGGGACTACACAGGACTACACGGGACTA CACCGGAACTACACAGGGTCACACAGGACTACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0025 a0003c0003t0001g0025	1	82	0.0122	784	c.199 others(803): Show c.1999-5681_1999-5680insTGTGTAGTCCTGTGTGACCCTGTGTA GTTCCGGTGTAGTCCCGTGTAGTCCTGTGTAGTCCCGTGTAGCTCCTGTA TAGCTCCTGTGTGGTCCTGCATAGTCCTGTGTAGTCCTGTGTAGTCCCGT GTAGCTCCGGTGTAGTCCTGTGTGACCCTGTGTAGTTCCTGTGTAGTCCC GTGTAGTCCCGTGTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTAGCTCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCC CGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTC CCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCT CCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCCGTGTAG CCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAG CTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTA GCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCCGTG TAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCCGTGTAGCCCCGT GTAGTCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCCG TGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCG TGTAGCCCCGTGTAGTCCCGTGTCACCCCGTGTAGTCCCGTGTAGCCCCG TGTAGTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FAM135B_chr8_138125023_138502261	138206229	A A	ACACAACT others(777): Show ACACAACTCCAGCATCCCCTCCATCTACCCACAGCTCTATCATACCCTCC ACCTACACACAACTCTATCATCCCCTCCACCTACACACAACCCTATCATC TCCTCCACCTACACACAACTCCAGCATCCCCTCCCCCTACACACAGTTCT ATCATCCCCTCCACCTACACACAACTCTATCATTCCCTCCACCTACACAC AACTCCAACATCCCCTCCACCTACCCACAGCTCTATCATCCCCTCCACCT ACACACAGCTCTATCATCCCCTCCACCTACCCACAGCTCTATCATCCCCT CCACCTATACACAGCTCTATCATCCCCTCCACCTACACACAATTCTATCA TCCCCTCCACCTACACACAACTCCAGCATCCCCTCCACCTACACACAGCT CTATCATCCCCTCCACCTACCCACGGCTCTATCATCCCCTCCACCTACAC ACAACTCCAGCATCCCCTCCACCTACCCACAACTCCATCATCCCCTCCAC CTACACACAGCTCTATCATCCCCTCGACCTACCCACAGCTCTATCATCCC CTCCATCTACACACAACTCCAGCATCCCCTCCACCTACACACAACGCTAT CATCCCCTCTACCTACACACAACTCCAGCATCCCCTCCCCCTACACACAG TTCTATCATCCCCTCCACCTACACACAACTCTATCATCCCCTTGATCTAT GCACAGCTCTATCATCCCCTCCACCTACCCACAACTCTATCATTCCCTCC ACCTACACACAACTCCAACATCCCCTCCACCTACC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02723.hp2 HG02976.hp2 HG02559.hp1 HG02723.hp2 HG02976.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0004 a0003c0001t0006 a0003c0001t0031 a0003c0001t0004 a0003c0001t0006 a0003c0001t0031	a0003c0001t0004g0020 a0003c0001t0006g0174 a0003c0001t0031g0126 a0003c0001t0004g0020 a0003c0001t0006g0174 a0003c0001t0031g0126	3	212	0.0142	784	c.670 others(801): Show c.670-8561_670-8560insGGTAGGTGGAGGGGATGTTGGAGTTGTG TGTAGGTGGAGGGAATGATAGAGTTGTGGGTAGGTGGAGGGGATGATAGA GCTGTGCATAGATCAAGGGGATGATAGAGTTGTGTGTAGGTGGAGGGGAT GATAGAACTGTGTGTAGGGGGAGGGGATGCTGGAGTTGTGTGTAGGTAGA GGGGATGATAGCGTTGTGTGTAGGTGGAGGGGATGCTGGAGTTGTGTGTA GATGGAGGGGATGATAGAGCTGTGGGTAGGTCGAGGGGATGATAGAGCTG TGTGTAGGTGGAGGGGATGATGGAGTTGTGGGTAGGTGGAGGGGATGCTG GAGTTGTGTGTAGGTGGAGGGGATGATAGAGCCGTGGGTAGGTGGAGGGG ATGATAGAGCTGTGTGTAGGTGGAGGGGATGCTGGAGTTGTGTGTAGGTG GAGGGGATGATAGAATTGTGTGTAGGTGGAGGGGATGATAGAGCTGTGTA TAGGTGGAGGGGATGATAGAGCTGTGGGTAGGTGGAGGGGATGATAGAGC TGTGTGTAGGTGGAGGGGATGATAGAGCTGTGGGTAGGTGGAGGGGATGT TGGAGTTGTGTGTAGGTGGAGGGAATGATAGAGTTGTGTGTAGGTGGAGG GGATGATAGAACTGTGTGTAGGGGGAGGGGATGCTGGAGTTGTGTGTAGG TGGAGGAGATGATAGGGTTGTGTGTAGGTGGAGGGGATGATAGAGTTGTG TGTAGGTGGAGGGTATGATAGAGCTGTGGGTAGATGGAGGGGATGCTGGA GTTGTG	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	7/19			chr8	TogoVar
FAM135B_chr8_138125023_138502261	138206229	A A	ACACAACT others(777): Show ACACAACTCCAGCATCCCCTCCATCTACCCACAGCTCTATCATACCCTCC ACCTACACACAACTCTATCATCCCCTCCACCTACACACAACCCTATCATC TCCTCCACCTACACACAACTCCAGCATCCCCTCCCCCTACACACAGTTCT ATCATCCCCTCCACCTACACACAACTCTATCATTCCCTCCACCTACACAC AACTCCAACATCCCCTCCACCTACCCACAGCTCTATCATCCCCTCCACCT ACACACAGCTCTATCATCCCCTCCACCTACCCACAGCTCTATCATCCCCT CCACCTATACACAGCTCTATCATCCCCTCCACCTACACACAATTCTATCA TCCCCTCCACCTACACACAACTCCAGCATCCCCTCCACCTACACACAGCT CTATCATCCCCTCCACCTACCCACGGCTCTATCATCCCCTCCACCTACAC ACAACTCCAGCATCCCCTCCACCTACCCACAACTCTATCATCCCCTCCAC CTACACACAGCTCTATCATCCCCTCGACCTACCCACAGCTCTATCATCCC CTCCATCTACACACAACTCCAGCATCCCCTCCACCTACACACAACGCTAT CATCCCCTCTACCTACACACAACTCCAGCATCCCCTCCCCCTACACACAG TTCTATCATCCCCTCCACCTACACACAACTCTATCATCCCCTTGATCTAT GCACAGCTCTATCATCCCCTCCACCTACCCACAACTCTATCATTCCCTCC ACCTACACACAACTCCAACATCCCCTCCACCTACC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0148 a0001c0018t0002g0148	1	212	0.0047	784	c.670 others(801): Show c.670-8561_670-8560insGGTAGGTGGAGGGGATGTTGGAGTTGTG TGTAGGTGGAGGGAATGATAGAGTTGTGGGTAGGTGGAGGGGATGATAGA GCTGTGCATAGATCAAGGGGATGATAGAGTTGTGTGTAGGTGGAGGGGAT GATAGAACTGTGTGTAGGGGGAGGGGATGCTGGAGTTGTGTGTAGGTAGA GGGGATGATAGCGTTGTGTGTAGGTGGAGGGGATGCTGGAGTTGTGTGTA GATGGAGGGGATGATAGAGCTGTGGGTAGGTCGAGGGGATGATAGAGCTG TGTGTAGGTGGAGGGGATGATAGAGTTGTGGGTAGGTGGAGGGGATGCTG GAGTTGTGTGTAGGTGGAGGGGATGATAGAGCCGTGGGTAGGTGGAGGGG ATGATAGAGCTGTGTGTAGGTGGAGGGGATGCTGGAGTTGTGTGTAGGTG GAGGGGATGATAGAATTGTGTGTAGGTGGAGGGGATGATAGAGCTGTGTA TAGGTGGAGGGGATGATAGAGCTGTGGGTAGGTGGAGGGGATGATAGAGC TGTGTGTAGGTGGAGGGGATGATAGAGCTGTGGGTAGGTGGAGGGGATGT TGGAGTTGTGTGTAGGTGGAGGGAATGATAGAGTTGTGTGTAGGTGGAGG GGATGATAGAACTGTGTGTAGGGGGAGGGGATGCTGGAGTTGTGTGTAGG TGGAGGAGATGATAGGGTTGTGTGTAGGTGGAGGGGATGATAGAGTTGTG TGTAGGTGGAGGGTATGATAGAGCTGTGGGTAGATGGAGGGGATGCTGGA GTTGTG	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	7/19			chr8	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(777): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATATATAAATATATAAATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATATAAATATATAAAT ATATAAATATATATAAATATATAAATATATAAATATATAAAAATATATAA ATACATAAATATATAAATATATAAATATATAAATATATAAATATATATAA GTACATATAAATATATATACATAAATATATAAATATATAAATATATAAAT ACATAATATATATAAATATAAAATATATATAATATATAAAATATATTAAA AATATAAAAATATATATAAAAAATATATAAATATATAAAAATATATAAAA AATATATACACATATAAATATATATAAAAATATATAAATATATATAAAAA TATATAAATATATATTATATATAAATATATAATATATAAATATATATAAA TATATAAATATATATAAATATATACAATATATAAATATATATAAATATAT ACAATATATAAATATATATATACAATATATAAATATATATAAATATATAC AATATATAAATATATATAAATATATACAATATATAAATATATATAAATAT ATACAATATATAAATATATATAAATATATAAATATATATAAATATATATA ATATATAAATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	344	0.0029	784	c.617 others(801): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTGTATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATATATTTAT ATATTGTATATATTTATATATATTTATATATTGTATATATTTATATATAT TTATATATTTATATATATTTATATATTATATATTTATATATAATATATAT TTATATATTTTTATATATATTTATATATTTTTATATATATTTATATGTGT ATATATTTTTTATATATTTTTATATATTTATATATTTTTTATATATATTT TTATATTTTTAATATATTTTATATATTATATATATTTTATATTTATATAT ATTATGTATTTATATATTTATATATTTATATATTTATGTATATATATTTA TATGTACTTATATATATTTATATATTTATATATTTATATATTTATATATT TATGTATTTATATATTTTTATATATTTATATATTTATATATTTATATATA TTTATATATTTATATATTTATATATATTTATATATATTTATATATTTATA TATTTTTATATATTTATATATTTTTATATATTTATATTTATATATTTATA TATTTATATATTTATATATTATATATTTATATTTATATATGTATATATTT TTATATATTTTTATTTATATATTTATATATTTATATATATTTATATATTC ATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar

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Search Results (Total: 8931 hits)