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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
C1QTNF8_chr16_1083226_1101244	1092754	A A	AGCACACA others(413): Show AGCACACAGTCGGCACTCAACCAATCCCTGCACACAGTCGGCGCTCAACC AATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGCGC TCAACCAATCCCTGCACACAGTCGGCGCTCAACAAATCACTGCACACAGT CGGCGCTCAACCAATCACAGCACACAGTCGGCGCTCAACCAATCCCTGCA CACAGTCGGCGCTCAACCAATCCGTGCACACAGTCAGCGCTCAACCAATC ACAGCACACAGTCGGCGCTCAACCAATCACTGCACACAGTCGGCGCTCAA CCAATCCGTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGC GCTCAACAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACACA GTCGGCGCTCAACGAATCCCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	396	0.0025	420	c.4+ others(433): Show c.4+742_*4+743insAGGGATTCGTTGAGCGCCGACTGTGTGCAGGG ATTGATTGAGCGCCGACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGT GCAGGGATTGGTTGAGCGCCGACTGTGTGCACGGATTGGTTGAGCGCCGA CTGTGTGCAGTGATTGGTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAG CGCTGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTG GTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAG TGATTTGTTGAGCGCCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGT GTGCAGGGATTGATTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCC GACTGTGTGCAGGGATTGGTTGAGTGCCGACTGTGTGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C1orf159_chr1_1076823_1121089	1077811	G G	GGGGAGGC others(413): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	326	0.0031	420	c.50 others(431): Show c.5081_*5082insGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCA CGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAG CCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCC ATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCACCCCCCA CGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAG CCACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCC ATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCA CGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAG CCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4011		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078349	G G	GCCGGGAG others(413): Show GCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATG GGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGC TGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGT GGCGGGAGGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATG GGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGC TGTGGCTATGGGGACTCCGTGCCGGGTGGCTGTGGCTATGGGGACTCCGT GCCGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATG GGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGC TGAGGCTATGGGGACTCCGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0054	1	326	0.0031	420	c.45 others(431): Show c.4543_*4544insAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACG GAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCC TCCCGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCAT AGCCACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCACG GAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCC TCCCGCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCAT AGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACG GAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCC TCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3473		chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(413): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGG TCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCG AGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGG GTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGG CGGGCGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0233 a0002c0008t0002g0233	1	338	0.0030	420	c.300 others(437): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACG TGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1190953	T T	TTGTGTGG others(413): Show TTGTGTGGCCTCAGGCACACTCGGGGTTTCGGTGACCCAGCAGGCTGCCC TGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGC CTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCTGACTCAGCAGGCT GGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCTGACTCAGCAG GCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCTTACTCAG CAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTGACCCA GCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCTTAC TCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTTTCGGT GACCCAGCAGGCTGGCCTGGC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	338	0.0030	420	c.300 others(437): Show c.300-3641_300-3640insAGGCACACTCGGGGTTTCGGTGACCCAG CAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTTTCGGTGACC CAGCAGGCTGCCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTGAC CCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCT GACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTC TCTGACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGT CTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGG GGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCG GGGTCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204952	G G	GGGGCCCC others(413): Show GGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCC AGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGT GCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGA GGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCACGGGTGGGGACCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	338	0.0030	420	c.245 others(437): Show c.2452-159_2452-158insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCG CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCACGGGTGGG GACCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204952	G G	GGGGCCCC others(413): Show GGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCC AGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGT GCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGA GGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGACCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01106.hp1 others(29): Show HG00280.hp2 HG00738.hp1 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01257.hp2 HG01346.hp2 HG01884.hp1 HG01978.hp2 HG02055.hp1 HG02056.hp1 HG02109.hp1 HG02145.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG03017.hp1 HG03209.hp2 HG03239.hp1 HG03688.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 NA18944.hp1 NA19043.hp2 NA20805.hp1	a0002 a0003 a0008 others(10): Show a0002 a0003 a0008 a0009 a0015 a0032 a0054 a0055 a0057 a0061 a0062 a0064 a0065	a0002c0002 a0002c0008 a0002c0039 others(14): Show a0002c0002 a0002c0008 a0002c0039 a0002c0078 a0003c0028 a0008c0009 a0009c0016 a0009c0076 a0015c0017 a0032c0071 a0054c0074 a0055c0110 a0057c0077 a0061c0080 a0062c0072 a0064c0111 a0065c0042	a0002c0002t0001 a0002c0002t0018 a0002c0008t0001 others(16): Show a0002c0002t0001 a0002c0002t0018 a0002c0008t0001 a0002c0039t0003 a0002c0078t0005 a0003c0028t0004 a0008c0009t0007 a0008c0009t0008 a0009c0016t0013 a0009c0076t0006 a0015c0017t0003 a0032c0071t0001 a0054c0074t0001 a0055c0110t0001 a0057c0077t0001 a0061c0080t0001 a0062c0072t0001 a0064c0111t0031 a0065c0042t0003	a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 others(29): Show a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0042 a0002c0002t0001g0141 a0002c0002t0001g0157 a0002c0002t0001g0239 a0002c0002t0001g0244 a0002c0002t0001g0324 a0002c0002t0018g0069 a0002c0008t0001g0144 a0002c0039t0003g0229 a0002c0078t0005g0250 a0003c0028t0004g0028 a0003c0028t0004g0325 a0008c0009t0007g0163 a0008c0009t0007g0171 a0008c0009t0008g0253 a0009c0016t0013g0245 a0009c0076t0006g0142 a0015c0017t0003g0107 a0015c0017t0003g0108 a0015c0017t0003g0119 a0032c0071t0001g0310 a0054c0074t0001g0283 a0055c0110t0001g0006 a0057c0077t0001g0191 a0061c0080t0001g0227 a0062c0072t0001g0210 a0064c0111t0031g0256 a0065c0042t0003g0230	32	338	0.0947	420	c.245 others(437): Show c.2452-159_2452-158insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCG CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GACCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204952	G G	GGGGCCCC others(413): Show GGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCC AGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGT GCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGA GGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG00735.hp1 HG01167.hp2	a0023 a0023	a0023c0029 a0023c0029	a0023c0029t0001 a0023c0029t0001	a0023c0029t0001g0183 a0023c0029t0001g0194 a0023c0029t0001g0183 a0023c0029t0001g0194	2	338	0.0059	420	c.245 others(437): Show c.2452-159_2452-158insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCG CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D3_chr3_54117552_55079557	54736014	T T	TACATATA others(413): Show TACATATATATATACGTATATATATATACGTATATATACGTATATATATA TACATATATATACGTATATATATACATATATATACGTATATATATATACA TATATATATGTATATATATATACATATATATACATATATACGTATATATA TACATATATATACGTATATATATACATATATATACGTATATATATACATA TATATACGTATATATATACATATATATACGTATATATATACATATATACG TATATATATACATATATACGTATATATATACATATATATACGTATATATA TATACATATATATACGTATATATATATACATATATATACGTATATATATA TACATATATATACGTATATATATATACATATATATACGTATATATATACA TATATATACGTATATATATAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	118	0.0085	420	c.116 others(441): Show c.1168-16584_1168-16583insCATATATATATACGTATATATATA TACGTATATATACGTATATATATATACATATATATACGTATATATATACA TATATATACGTATATATATATACATATATATATGTATATATATATACATA TATATACATATATACGTATATATATACATATATATACGTATATATATACA TATATATACGTATATATATACATATATATACGTATATATATACATATATA TACGTATATATATACATATATACGTATATATATACATATATACGTATATA TATACATATATATACGTATATATATATACATATATATACGTATATATATA TACATATATATACGTATATATATATACATATATATACGTATATATATATA CATATATATACGTATATATATACATATATATACGTATATATATACA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54736093	A A	ACATATAT others(413): Show ACATATATATACGTATATATATATACATATATATACGTATATATATATAC GTATATATATACATATATACGTATATATATATATATACGTATATATATGT ATATATATACGTATATATATATACATATATATACGTATATATATACGTAT ATATACGTATATATACGTATATATATATACGTATATATACGTATATATAT ATACGTATATATACGTATATATATATACGTATATATACGTATATATATAT ACGTATATATATACATATATACGTATATATATATATATACGTATATATAT GTATATATATACGTATATATATATACATATATATACGTATATATATACAT ATATACGTATATATATATATACGTATATATATGTATATATATACGTATAT ATATATATACGTATATATATG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	118	0.0085	420	c.116 others(441): Show c.1168-16506_1168-16505insCATATATATACGTATATATATATA CATATATATACGTATATATATATACGTATATATATACATATATACGTATA TATATATATATACGTATATATATGTATATATATACGTATATATATATACA TATATATACGTATATATATACGTATATATACGTATATATACGTATATATA TATACGTATATATACGTATATATATATACGTATATATACGTATATATATA TACGTATATATACGTATATATATATACGTATATATATACATATATACGTA TATATATATATATACGTATATATATGTATATATATACGTATATATATATA CATATATATACGTATATATATACATATATACGTATATATATATATACGTA TATATATGTATATATATACGTATATATATATATACGTATATATATG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37			chr3	TogoVar
CACNB4_chr2_151827771_152104044	152074609	C C	CCATCACC others(413): Show CCATCACCATCACCCCCTCACCATTACCACCTCCACCATCACCATCACCC CCTCACCATTACCACCTCTATCATCACCATCACCCCCTCACCATTACCAC CTCCACCATCACCATCACCCCCTCACCATTACCACCTCTATCATCACCAT CACCCCCTCACCATTACCACCTCCACCATCACCATCACCCCCTCACCATT ACCACCTCTATCATCACCATCACCCCCTCACCATTACCACCTCCACCATC ACCATCACCCCCTCACCATTACCACCTCTATCATCACCATCACCCCCTCA CCATTACCACCTCCACCATCACCATCACCCCCTCACCATTACCACCTCTA TCATCACCATCACCCCCTCACCATTACCACCTCCACCATCACCATCACCC CCTCACCATTACCACCTCTAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0205 a0001c0001t0039g0205	1	230	0.0044	420	c.147 others(439): Show c.147+23720_147+23721insATAGAGGTGGTAATGGTGAGGGGGTG ATGGTGATGGTGGAGGTGGTAATGGTGAGGGGGTGATGGTGATGATAGAG GTGGTAATGGTGAGGGGGTGATGGTGATGGTGGAGGTGGTAATGGTGAGG GGGTGATGGTGATGATAGAGGTGGTAATGGTGAGGGGGTGATGGTGATGG TGGAGGTGGTAATGGTGAGGGGGTGATGGTGATGATAGAGGTGGTAATGG TGAGGGGGTGATGGTGATGGTGGAGGTGGTAATGGTGAGGGGGTGATGGT GATGATAGAGGTGGTAATGGTGAGGGGGTGATGGTGATGGTGGAGGTGGT AATGGTGAGGGGGTGATGGTGATGATAGAGGTGGTAATGGTGAGGGGGTG ATGGTGATGGTGGAGGTGGTAATGGTGAGGGGGTGATGGTGATG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(413): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCT TCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCT TCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCT TCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0028 a0001c0001t0017g0028	1	142	0.0070	420	c.244 others(439): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGG AAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGG AAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGACGGAGGGAAGGAGGGAAGGAGGGAA GGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMKK2_chr12_121232692_121301709	121255224	A A	ATATATAT others(413): Show ATATATATAATTATATATATAATTTTATATATATATAATTATATATATAT AATTTTATATATATAATTATATATATAATTATATATATATAATTATATAT ATATAATTATATATTTTTATATATATAATTATATATATAATTTTATATAT ATATAATTATATATAATTATATATATATAATTATATATATTATATATATA ATTATATATATATATTATATATATAATTTTATATATATATAATTATATAT ATAATTTTATATATATAATTATATATATATAAAATTATATATATAATTTT ATATATAAAATTATATATATAATTTTATATATATAATTATATATATAATT TTATATATATAATTATATATATATAATTTTATATATATAATTATATATAT ATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0293 a0002c0004t0002g0293	1	330	0.0030	420	c.907 others(435): Show c.907+325_907+326insATTATATATATATAAAATTATATATATATA ATTATATATATAAAATTATATATATATAATTATATATATAAAATTATATA TATAATTATATATATAAAATTATATATATAATTTTATATATAAAATTATA TATATAATTTTATATATATATAATTATATATATAAAATTATATATATAAT TATATATATATAAAATTATATATATAATATATATATATAATTATATATAT AATATATATAATTATATATATATAATTATATATAATTATATATATATAAA ATTATATATATAATTATATATATAAAAATATATAATTATATATATATAAT TATATATATATAATTATATATATAATTATATATATAAAATTATATATATA TAATTATATATATATAAAATTATATATATAATTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CCDC88A_chr2_55282842_55424856	55297381	A A	AAATATAT others(413): Show AAATATATATAATATATATTATATATAATATATATAATATATATAATATA TATTATATATTATATATAAATATATATAATATATATTATATAATATATAT TATATATAAATATATATAATATATAATATATATTATATATAAATATATAT AATATATAATATATATTATATATAAATATATATAATATATAATATATATT ATATATAAATATATATAATATATAATATATATTATATATAAATATATATA ATATATAATATATATTATATATAAATATATATAATATATAATATATATTA TATATAAATATATATAATATATAATATATATTATATATAAATATATATAA TATATAATATATATTATATATAAATATATATAATATATAATATATATTAT ATATAAATATATATAATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0004 a0001c0002t0006g0004	1	316	0.0032	420	c.482 others(437): Show c.4826-859_4826-858insATATATTATATATATTTATATATAATAT ATATTATATATTATATATATTTATATATAATATATATTATATATTATATA TATTTATATATAATATATATTATATATTATATATATTTATATATAATATA TATTATATATTATATATATTTATATATAATATATATTATATATTATATAT ATTTATATATAATATATATTATATATTATATATATTTATATATAATATAT ATTATATATTATATATATTTATATATAATATATATTATATATTATATATA TTTATATATAATATATATTATATATTATATATATTTATATATAATATATA TTATATAATATATATTATATATATTTATATATAATATATAATATATATTA TATATATTATATATATTATATATAATATATATTATATATATT	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	29/32			chr2	TogoVar
CCDC88A_chr2_55282842_55424856	55384523	A A	ATATATAC others(413): Show ATATATACATATATACGTATGTATGTGTATATATACATATATACGTATGT ATGTGTATATATACATATATACGTATGTATGTGTATATATACATATATAC GTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACAT ATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATAT ATACATATATACGTATGTATGTGTATATATACATATATACGTATGTATGT GTATATATACATATACATACGTATGTATGTGTATATATACATATATACGT ATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACATAT ATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATATAT ACATATATACGTATGTATGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA20805.hp2 HG02258.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0244 a0001c0001t0001g0206 a0001c0001t0001g0244	2	316	0.0063	420	c.273 others(437): Show c.273+4254_273+4255insCACATACATACGTATATATGTATATATA CACATACATACGTATATATGTATATATACACATACATACGTATATATGTA TATATACACATACATACGTATATATGTATATATACACATACATACGTATA TATGTATATATACACATACATACGTATGTATATGTATATATACACATACA TACGTATATATGTATATATACACATACATACGTATATATGTATATATACA CATACATACGTATATATGTATATATACACATACATACGTATATATGTATA TATACACATACATACGTATATATGTATATATACACATACATACGTATATA TGTATATATACACATACATACGTATATATGTATATATACACATACATACG TATATATGTATATATACACATACATACGTATATATGTATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CCDC88A_chr2_55282842_55424856	55384523	A A	ATATATAC others(413): Show ATATATACATATATACGTATGTATGTGTATATATACATATATACGTATGT ATGTGTATATATACATATATACGTATGTATGTGTATATATATACATATAT ACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATAC ATATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTAT ATATACATATATACGTATGTATGTGTATATATACATATATACGTATGTAT GTGTATATATACATATATACGTATGTATGTGTATATATACATATATACGT ATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACATAT ATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATATAT ACATATATACGTATGTATGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	316	0.0032	420	c.273 others(437): Show c.273+4254_273+4255insCACATACATACGTATATATGTATATATA CACATACATACGTATATATGTATATATACACATACATACGTATATATGTA TATATACACATACATACGTATATATGTATATATACACATACATACGTATA TATGTATATATACACATACATACGTATATATGTATATATACACATACATA CGTATATATGTATATATACACATACATACGTATATATGTATATATACACA TACATACGTATATATGTATATATACACATACATACGTATATATGTATATA TACACATACATACGTATATATGTATATATACACATACATACGTATATATG TATATATATACACATACATACGTATATATGTATATATACACATACATACG TATATATGTATATATACACATACATACGTATATATGTATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CELSR1_chr22_46356174_46542620	46487657	A A	AGGGTGCA others(413): Show AGGGTGCAGGTGGGGGGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGA GGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGCGCGGGGGAGGGG AGTCCAGGGTGCAGGTGGGAGGCGCGGGGGAGGGGAGTCCAGGGTGCAGG TGGGAGGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGCGCGGGGG AGGGGAGTCCAGGGTGCAGGTGGGGGGCGCGGGGGAGGGGAGTCCAGGGT GCAGGTGGGGGGTGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGCGT GGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGTGCGGGGGAGGGGAGTCC AGGGTGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGCACGGAGGAGG GGAGTCCAGGGTGCAGGTGGG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0049 a0049	a0049c0062 a0049c0062	a0049c0062t0013 a0049c0062t0013	a0049c0062t0013g0100 a0049c0062t0013g0100	1	104	0.0096	420	c.354 others(441): Show c.3545-23313_3545-23312insCCCACCTGCACCCTGGACTCCCCT CCTCCGTGCCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCTGGA CTCCCCTCCCCCGCACCCCCCACCTGCACCCTGGACTCCCCTCCCCCACG CCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCCCCACCTGCACC CTGGACTCCCCTCCCCCGCGCCCCCCACCTGCACCCTGGACTCCCCTCCC CCGCGCCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCGCCTCCCACCT GCACCCTGGACTCCCCTCCCCCGCGCCTCCCACCTGCACCCTGGACTCCC CTCCCCCGCGCCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCGCCTCC CACCTGCACCCTGGACTCCCCTCCCCCGCGCCCCCCACCTGCACCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAGAAAGA others(413): Show AAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAGAAAGAAAGAGA AAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAA GAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAAAGA AAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAAA GAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAGGAAAGAAAGAAA GAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18982.hp1 NA18984.hp1 others(1): Show NA18975.hp2 NA18982.hp1 NA18984.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0173 a0001c0002t0002g0005 a0001c0002t0002g0173	4	258	0.0155	420	c.403 others(435): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTT CTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCT TTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCT TTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCT TTCTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCT TTCTTTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP61_chr20_20047532_20365698	20337644	A A	ATGGATAG others(413): Show ATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGG ATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGAT GGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGG ATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGAT GGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGG GTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGAT AGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGG ATGGATGGATGGATAGATGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0197 a0002c0002t0002g0197	1	236	0.0042	420	c.342 others(439): Show c.3423-4184_3423-4183insATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGAT AGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGG ATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGAT AGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGG ATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGG ATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHFR_chr12_132827356_132892605	132836107	C C	CCAGGCTC others(413): Show CCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCAC GGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCA CAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCC AGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGC ACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGG CTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGC ACGGCACTCACAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTG ACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCAC GGCGCACGGCCCTCACAGTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18947.hp1 NA18967.hp1 NA18983.hp1 NA18947.hp1 NA18967.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0015 a0001c0001t0027g0307 a0001c0001t0027g0015 a0001c0001t0027g0307	3	378	0.0079	420	c.54 others(431): Show c.5446_*5447insTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCT GTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCC GTGCGCCGTGCTGGGAGCCTGTCACTGTGAGTGCCGTGCGCCGTGCTGGG AGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGA GTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTG CTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCAC TGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCG CCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCT GGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5446		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836107	C C	CCAGGCTC others(413): Show CCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCAC GGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCA CAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCC AGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGC ACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGG CTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGC ACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTG ACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCAC GGCGCACGGCCCTCACAGTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 NA19060.hp2 NA19091.hp1 HG00408.hp2 NA19060.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0115 a0001c0001t0042 a0001c0001t0115	a0001c0001t0042g0275 a0001c0001t0042g0276 a0001c0001t0115g0267 a0001c0001t0042g0275 a0001c0001t0042g0276 a0001c0001t0115g0267	3	378	0.0079	420	c.54 others(431): Show c.5446_*5447insTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCT GTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCC GTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGG AGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGA GTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTG CTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCAC TGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCG CCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCT GGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5446		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836107	C C	CCAGGCTC others(413): Show CCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCAC GGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCA CAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCC AGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGC ACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGG CTCCCAGCACGGCGCACGGCCCTCACAGTGCCAGGCTCCCAGCACGGCGC ACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTG ACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCAC GGCGCACGGCCCTCACAGTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0303 a0001c0001t0101g0303	1	378	0.0027	420	c.54 others(431): Show c.5446_*5447insTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCT GTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCC GTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGG AGCCTGGCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGA GTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTG CTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCAC TGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCG CCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCT GGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5446		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836132	A A	ACTCACAG others(413): Show ACTCACAGTGACAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGG CTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGC ACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTG CCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCAC GGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCCCTCA CAGTGCCAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCC AGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGC CCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGG CTCCCAGCACGGCGCACGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0281 a0001c0001t0087g0281	1	378	0.0027	420	c.54 others(431): Show c.5421_*5422insGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGA GGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTG CTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCAC TGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGGGCCGTGCG CCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCT GGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCC GTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGG AGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGA GTGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5421		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836282	C C	CCAGGCTC others(413): Show CCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCAC GGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCCCTCA CAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCC AGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGC CCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCACTCACAGTGACAGG CTCCCAGCACGGCGCACGGCACTCACAGTGACAGGCTCCCAGCACGGCGC ACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTG CCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCAC GGCGCACGGCCCTCACAGTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp1 HG02015.hp1 HG02071.hp2 others(1): Show HG00423.hp1 HG02015.hp1 HG02071.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0109 a0001c0001t0025 a0001c0001t0109	a0001c0001t0025g0242 a0001c0001t0025g0255 a0001c0001t0025g0262 others(1): Show a0001c0001t0025g0242 a0001c0001t0025g0255 a0001c0001t0025g0262 a0001c0001t0109g0301	4	378	0.0106	420	c.52 others(431): Show c.5271_*5272insTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCT GGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCC GTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGG AGCCTGTCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGA GTGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTG CTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCAC TGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCG CCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCT GGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5271		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836282	C C	CCAGGCTC others(413): Show CCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCAC GGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCA CAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCC AGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGC CCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCACTCACAGTGACAGG CTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGC ACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTG CCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCAC GGCGCACGGCCCTCACAGTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0297 a0001c0001t0100g0297	1	378	0.0027	420	c.52 others(431): Show c.5271_*5272insTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCT GGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCC GTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGG AGCCTGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGA GTGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTG CTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCAC TGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCG CCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCT GGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5271		chr12	TogoVar
CHMP1A_chr16_89639435_89662708	89647588	A A	AAAAGGCC others(413): Show AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGAC CCAGCGCGGGGTCGGTGGAGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	392	0.0026	420	c.253 others(435): Show c.253-258_253-257insGCTCCACCGACCCCGCGCTGGGTCTCCACG TCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGC CTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTC CACCGACCCCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647648	G G	GGACCCAG others(413): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAG CGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGT CGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	392	0.0026	420	c.253 others(435): Show c.253-318_253-317insTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCGCTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGC TGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCCC CACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647774	A A	AGACCCAG others(413): Show AGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG TGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	392	0.0026	420	c.253 others(435): Show c.253-444_253-443insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGA CCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCAC TGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648412	C C	CGCGGGGT others(413): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGG GTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGTCGGTGG AGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGG CGGCCGACGTGGAGACCCAGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	392	0.0026	420	c.252 others(435): Show c.252+938_252+939insACTGGGTCTCCACGTCGGCCGCCTTTTCTC CACCGACCCCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACC CCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCA CGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGC TGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648412	C C	CGCGGGGT others(413): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGG GTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGG CGGCCGACGTGGAGACCCAGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	392	0.0026	420	c.252 others(435): Show c.252+938_252+939insACTGGGTCTCCACGTCGGCCGCCTTTTCTC CACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTG GGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCACTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCACTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCAC TGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(413): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCGTG TGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCC TCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGC CGCCCCGCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0255 a0004c0013t0002g0255	1	428	0.0023	420	c.217 others(437): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCT GCCCGTGTGGCTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGG GTGCCCCTGGCCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133778	T T	TCTCCACC others(413): Show TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCA CCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCC TCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCC TCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	223	0.0045	420	c.-42 others(431): Show c.-4266_-4265insCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTC CCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTC TCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3983		chr19	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(413): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTG GTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATC ATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA19030.hp1 HG01175.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0156 a0002c0002t0001g0151 a0001c0001t0001g0156 a0002c0002t0001g0151	2	320	0.0063	420	c.-52 others(437): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGT TTATAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAA CATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(413): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGG TGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATC ATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	320	0.0031	420	c.-52 others(437): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTT TATAACTGGTGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAA CATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(413): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGG TGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATC ATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02145.hp1 HG02300.hp1 others(3): Show HG01175.hp1 HG02145.hp1 HG02300.hp1 NA18946.hp1 NA18978.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0215 a0001c0001t0001g0289 a0001c0001t0001g0299 others(3): Show a0001c0001t0001g0215 a0001c0001t0001g0289 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0002g0195 a0001c0001t0003g0294	6	320	0.0188	420	c.-52 others(437): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTT TATAACTGGTGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAA CATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(413): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTG GGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATC ATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0012 a0001c0001t0009g0012	1	320	0.0031	420	c.-52 others(437): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTA TAACTGGTGGGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAA CATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(413): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAGAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGG TGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATC ATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0002 a0010c0010t0002	a0010c0010t0002g0028 a0010c0010t0002g0028	1	320	0.0031	420	c.-52 others(437): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAGAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTT TATAACTGGTGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAA CATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL23A1_chr5_178232618_178595393	178525070	A A	AGGACCCG others(413): Show AGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGTCACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTC ACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAA GGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCC GGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG02647.hp1 others(2): Show HG02055.hp1 HG02615.hp2 HG02647.hp1 HG03130.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003	a0001c0001t0005 a0001c0001t0007 a0001c0004t0001 others(2): Show a0001c0001t0005 a0001c0001t0007 a0001c0004t0001 a0002c0002t0010 a0002c0003t0006	a0001c0001t0005g0009 a0001c0001t0007g0008 a0001c0004t0001g0007 others(2): Show a0001c0001t0005g0009 a0001c0001t0007g0008 a0001c0004t0001g0007 a0002c0002t0010g0228 a0002c0003t0006g0229	5	236	0.0212	420	c.361 others(439): Show c.361+35611_361+35612insCGGGGTCTGCGCGCTGTGTCGCCATT TCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTG TGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGT CTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGG GTCCCGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCT TAGCCTTCGGGTCCCGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGC CATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTGTGACGCCATT TCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTG TGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
CPNE7_chr16_89570758_89602246	89597951	T T	TCCACCCA others(413): Show TCCACCCATCCCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCCATC CCCCCACCCACCCATCTGTCCACCCATCCCCCCGCCCACCCATCCGTCCA CCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCATC CACCCATCCCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCA TCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCACCCACC CGTCCGTCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCA CCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCC CACCCATCCGTCCACCCATCCGTCCACTCACCCATCCGTCCACTCACCCA TCTGTCCACCCATTCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02572.hp1 others(2): Show HG01884.hp1 HG02145.hp2 HG02572.hp1 HG03471.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(2): Show a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0220 a0001c0009t0001g0011	5	348	0.0144	420	c.13 others(431): Show c.1330_*1331insCCACCCATCCCCCCGCCCACCCATCTGTCCACCC ATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCGC CCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCC GTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCCC CCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCC ATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCCAT CCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCC GTCCACCCATCCCCCCACCCATCCGTCCACCCATCCGTCCACTCACCCAT CCGTCCACTCACCCATCTGTCCACCCATTCCCCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		706		chr16	TogoVar
CR1L_chr1_207640133_207728703	207686122	C C	CCCTCCCT others(413): Show CCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCC CTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCAT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCC CTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCT CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTC CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCT CCCTCCCTCCATCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	346	0.0029	420	c.463 others(437): Show c.463+2168_463+2169insCCCTTCCTTCCTTCCTCCCTCCCTCCAT CCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCT CCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCC TTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTTCCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CROCC2_chr2_240901336_240998311	240923731	G G	GTCCCCAC others(413): Show GTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACC CAGCCCCCAACACTAACCCAGCCCCCCACACTAACCCGGCCCCCACACTA ACCCAGTCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACA CTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCA CACTAACCCAGCCCCCAACACTAACCCAGCCCCCACACTGACCCGGCCCC CCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAG CCCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACACTAAC CCGGCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAA CCCAGTCCCCACACTAACCCA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0045 a0045	a0045c0064 a0045c0064	a0045c0064t0001 a0045c0064t0001	a0045c0064t0001g0179 a0045c0064t0001g0179	1	350	0.0029	420	c.488 others(437): Show c.488+1086_488+1087insTCCCCACACTAACCCAGCCCCCCACACT AACCCAGCCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCAC ACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCA ACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCC CCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCAACACTAACCCAG CCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACC CGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCAACACT AACCCAGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACA CTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924427	G G	GTCCCCAC others(413): Show GTCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAAC CCAGCCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCCACACTA ACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCTCACA CTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCA CACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTGACCCAGCCCC CACACTAACCCTAACCCCACACTAACCCGGCCCCCACACTAACCCGGCCC CCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCAG TCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCC GGCCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	350	0.0029	420	c.489 others(437): Show c.489-1297_489-1296insTCCCCACACTAACCCAGCCCCCCACACT AACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCCAC ACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCTCACACTAACCCAGCCCCCACACTAACCCGGCCC CCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGG CCCCCACACTGACCCAGCCCCCACACTAACCCTAACCCCACACTAACCCG GCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAAC CCAGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAA CCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461746	C C	CCACATTC others(413): Show CCACATTCACCATGGATGGCGTATCCGCACAGCGGCCACATTCACCATGG GGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGCGTATCCGCAC AGCGGCCACATTCACCGTGGGGGGCGTATCCGCACAGCGGCCACATTCAC CGTGGGGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGCATATC CGCACAGCGGCCACATTTACCATGGATGGCGTATCCGCACAGCAGCCACA TTCACCATGGGGGGCGTATCCGCACAGCACACACATTCACCATGGAGGGC GTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCAG CCACATTCACCATGGATGGCGTATCTGCACAGCAGCCACATTCACCATGG GGGGCGTATCCACACAGCACA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03669.hp2 NA20905.hp1 HG02698.hp1 HG03669.hp2 NA20905.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0057 a0002c0004t0013g0124 a0002c0004t0013g0199 a0002c0004t0013g0057 a0002c0004t0013g0124 a0002c0004t0013g0199	3	238	0.0126	420	c.635 others(437): Show c.635-3105_635-3104insTGTGCTGTGTGGATACGCCCCCCATGGT GAATGTGGCTGCTGTGCAGATACGCCATCCATGGTGAATGTGGCTGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCTCC ATGGTGAATGTGTGTGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCT GCTGTGCGGATACGCCATCCATGGTAAATGTGGCCGCTGTGCGGATATGC CCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCACGGTGAATG TGGCCGCTGTGCGGATACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGA TACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGT GAATGTGGCCGCTGTGCGGATACGCCATCCATGGTGAATGTG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461746	C C	CCACATTC others(413): Show CCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGG GGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGCGTATCCGCAC AGCGGCCACATTCACCGTGGGGGGCGTATCCGCACAGCGGCCACATTCAC CGTGGGGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGCATATC CGCACAGCGGCCACATTTACCATGGATGGCGTATCCGCACAGCAGCCACA TTCACCATGGGGGGCGTATCCGCACAGCACACACATTCACCATGGAGGGC GTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCAG CCACATTCACCATGGATGGCGTATCTGCACAGCAGCCACATTCACCATGG GGGGCGTATCCACACAGCACA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02074.hp2 HG02040.hp1 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0201 a0001c0001t0001g0141 a0001c0001t0001g0201	2	238	0.0084	420	c.635 others(437): Show c.635-3105_635-3104insTGTGCTGTGTGGATACGCCCCCCATGGT GAATGTGGCTGCTGTGCAGATACGCCATCCATGGTGAATGTGGCTGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCTCC ATGGTGAATGTGTGTGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCT GCTGTGCGGATACGCCATCCATGGTAAATGTGGCCGCTGTGCGGATATGC CCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCACGGTGAATG TGGCCGCTGTGCGGATACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGA TACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGT GAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461746	C C	CCACATTC others(413): Show CCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGG GGGGCGTATCTGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCAC AGCGGCCACATTCACCGTGGGGGGCGTATCCGCACAGCGGCCACATTCAC CGTGGGGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGCATATC CGCACAGCGGCCACATTTACCATGGATGGCGTATCCGCACAGCAGCCACA TTCACCATGGGGGGCGTATCCGCACAGCACACACATTCACCATGGAGGGC GTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCAG CCACATTCACCATGGATGGCGTATCTGCACAGCAGCCACATTCACCATGG GGGGCGTATCCACACAGCACA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	238	0.0042	420	c.635 others(437): Show c.635-3105_635-3104insTGTGCTGTGTGGATACGCCCCCCATGGT GAATGTGGCTGCTGTGCAGATACGCCATCCATGGTGAATGTGGCTGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCTCC ATGGTGAATGTGTGTGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCT GCTGTGCGGATACGCCATCCATGGTAAATGTGGCCGCTGTGCGGATATGC CCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCACGGTGAATG TGGCCGCTGTGCGGATACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGA TACGCCCCCCATGGTGAATGTGGCCGCTGTGCAGATACGCCCCCCATGGT GAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CTU2_chr16_88701503_88720396	88713084	C C	CCTGAGAG others(413): Show CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0143	1	418	0.0024	420	c.737 others(435): Show c.737+179_737+180insCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGC CCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCT	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14			chr16	TogoVar
CYP4F11_chr19_15907377_15939529	15931621	C C	CGAGGAGA others(413): Show CGAGGAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0025 a0001c0006t0025	a0001c0006t0025g0082 a0001c0006t0025g0082	1	386	0.0026	420	c.199 others(437): Show c.199-2021_199-2020insACTCACTCATTCCTCTCCTCACTCACTC ATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCC TCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTC ATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCC TCACTCACTCATTCCTCTGCCCACTCACTCATTCCTCTCCTCGCTCACTC ATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCC TCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCTCACTC ATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCTTCTCC TCACTCACTCATTCCTCTGCCCACTCACTCATTCCTCTCCTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931861	T T	TGGGCAGA others(413): Show TGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG TGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGTGGGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAG TGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0018 a0013c0012t0018	a0013c0012t0018g0061 a0013c0012t0018g0061	1	386	0.0026	420	c.199 others(437): Show c.199-2261_199-2260insGCTCACTCATTCCTCTCCCCGCTCACTC ATTCCTCTCCCCGCTCACTCATTCCTCTGCCCACTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCACTCACTC ATTCCTCTGCCCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCC TCACTCACTCATTCCTCTCCCCACTCACTCATTCCTCTCCTCGCTCACTC ATTCCTCTCCTCACTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCACTCACTC ATTCCTCTCCTCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTGCCCACTCACTCATTCCTCTGCCC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932085	G G	GAGAGGAA others(413): Show GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0166 a0002c0001t0166	a0002c0001t0166g0336 a0002c0001t0166g0336	1	386	0.0026	420	c.198 others(437): Show c.198+2125_198+2126insGCCCGCTCACTCATTCCTCTGCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCTCACTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCTCACTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCTCACTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCTCACTC ACTCATTCCTCTCCTCACTCACTCATTCCTCTGCCCGCTCACTCATTCCT CTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932103	A A	AGGAGAGG others(413): Show AGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGCGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0050 a0001c0004t0022g0050	1	386	0.0026	420	c.198 others(437): Show c.198+2107_198+2108insCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCTCACTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCTCACTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCTCACTCACTCATTCCTCTGCTCACTCACTCATTCCTCTCCTCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar

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Search Results (Total: 10000 hits)