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
C1QTNF8_chr16_1083226_1101244	1093202	A A	AGCACACA others(775): Show AGCACACAGTCGACGCTCAACCAATCACAGCACACAGTCGGCGTTCAACC AATCACAGCACACAGTCGGCGTTCAACCAATCCCTGCACACAGTCGGCGC TCAACCAATCACAGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGT CGGCGCTCAACCAATCCCTGCACACAGTCGGCGTTCAACCAATCCCTGCA CACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGTTCAACCAATC ACAGCACACAGTCGGCACTCAACCAATCACAGCACACAGTCGGCGTTCAA CCAATCCCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGC GCTCAGCCAATCACTGCACACAGTCGGCGCTCAACCAATCCGTGCACACA GTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAACCAATCACAG CACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGCGCTCAACGAA TCCCTGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGCGCTC AACCAATCCCTGCACACAGTCGGCGCTCAACATCACAGCACACAGTCGGC GCTCAATCAATCCCTGCACACAGTCGGCGCTCAACCAATCCGTGCACACA GTCGGTGCTCAACCAATCACTGCACACAGTCGGCGCTCAACCAATCACAG CACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGTGCTCAACAAA TCACAGCACACCGTCGGCGCTCAATCAATTCCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp1 HG02886.hp1 HG02630.hp1 HG02717.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0025	3	396	0.0076	782	c.4+ others(795): Show c.4+294_*4+295insAGGAATTGATTGAGCGCCGACGGTGTGCTGTG ATTTGTTGAGCACCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGTGT GCTGTGATTGGTTGAGCGCCGACTGTGTGCAGTGATTGGTTGAGCACCGA CTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAG CGCCGACTGTGTGCTGTGATGTTGAGCGCCGACTGTGTGCAGGGATTGGT TGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGTGCAGGG ATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGT GCTGTGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGGTTGAGCGCCGA CTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGTGATTGGCTGAG CGCCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTG GTTGAACGCCGACTGTGTGCTGTGATTGGTTGAGTGCCGACTGTGTGCTG TGATTGGTTGAACGCCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGT GTGCAGGGATTGGTTGAACGCCGACTGTGTGCAGGGATTGGTTGAGCGCC GACTGTGTGCAGGGATTGGTTGAGCGCCGACTGTGTGCTGTGATTGGTTG AGCGCCGACTGTGTGCAGGGATTGGTTGAACGCCGACTGTGTGCTGTGAT TGGTTGAACGCCGACTGTGTGCTGTGATTGGTTGAGCGTCGACTGTGTGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C4orf50_chr4_5954375_6023431	6004599	A A	ATGATGGT others(775): Show ATGATGGTGACGGTGATGATGTGATGGTGATGATGGTGATGATGGTGATG GTGATGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATAGTGAT GATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGTGATGGT GATGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGG TGATGATGATGGTGATGTGATGGTAATGGTGATGATGGTGATGGTGATGA TGATGTGGTGGTGATGGTGATGCTGATGATGGTGATGATGGTGATGGTGA TGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGATGATATTGATGGTGATGATATTGATGGTGATGATGGTGATGGT GATGATGTGATGGTGATGATGGTGATGATGGTGATAGTTATGATGGTGAT GGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGA TGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGG TGATGGTGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATG GTGATGATGGTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGAT GGTGATGGTGATGATGACGGTGATGGTGATGATGGTGATGGTGATGATGG TGATGGTGGTGATGGAGATGGAGATGTTGGTGATGATGGTGATGGTGGTG ATGATGTGATGGTAATGGTGATGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0000 a0005c0005t0000	a0005c0005t0000g0092 a0005c0005t0000g0092	1	346	0.0029	782	c.963 others(799): Show c.963+3396_963+3397insCCATCACCATCATCACCATTACCATCAC ATCATCACCACCATCACCATCATCACCAACATCTCCATCTCCATCACCAC CATCACCATCATCACCATCACCATCATCACCATCACCGTCATCATCACCA TCACCATCATCACCATCACCATCATCACCATCATCACCATCATCACCATC ATCACCATCACCATCATCACCATCACCATCATCACCATCATCACCATCAC CATCACCATCATCACCATCACCATCATCACCATCATCACTATCATCACCA TCACATCATCACCATCACCATCATCACCATCATCACCATCATCAACATCA TCACCATCACCATCATAACTATCACCATCATCACCATCATCACCATCACA TCATCACCATCACCATCATCACCATCAATATCATCACCATCAATATCATC ACCATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCAC TATCATCACCATCACCATCATCACCATCATCAGCATCACCATCACCACCA CATCATCATCACCATCACCATCATCACCATTACCATCACATCACCATCAT CATCACCACCATCACCATCATCACCATCACCATCATCACCATCACCATCA TCATCACCATCACATCATCACCATCACCATCATCACCATCACCATCATCA CCATCATCACTATCATCACCATCATCACCATCATCAACATCATCACCATC ATCACCATCACCATCATCACCATCATCACCATCACATCATCACCGTCACC ATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C4orf50_chr4_5954375_6023431	6004599	A A	ATGATGGT others(775): Show ATGATGGTGACGGTGATGATGTGATGGTGATGATGGTGATGATGGTGATG GTGATGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGAT GGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGATGATGTGATGGTGATGATGATGGTGATGGTGATGATGGTGATGGTGA TGATGGTGATGGTGGTGATGATGATGGTGATGTGATGGTAATGGTGATGA TGGTGATGGTGATGATGATGTGGTGGTGATGGTGATGCTGATGATGGTGA TGATGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGATATTGATGGTGATGATATTGATGGT GATGATGGTGATGGTGATGATGTGATGGTGATGATGGTGATAGTTATGAT GGTGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGATGG TGATGATGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGA TGATGGTGATGGTGATGGTGATGATGGTGATGATGGTGATGGTGATGATG GTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATTGT GATGATGGTGATGGTGATGATGACGGTGATGGTGATGATGGTGATGGTGA TGATGGTGATGGTGGTGATGGAGATGTTGGTGATGATGGTGATGGTGGTG ATGATGTGATGGTAATGGTGATGATGGTGATGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0100 a0100	a0100c0112 a0100c0112	a0100c0112t0000 a0100c0112t0000	a0100c0112t0000g0014 a0100c0112t0000g0014	1	346	0.0029	782	c.963 others(799): Show c.963+3396_963+3397insCCATCACCATCATCACCATTACCATCAC ATCATCACCACCATCACCATCATCACCAACATCTCCATCACCACCATCAC CATCATCACCATCACCATCATCACCATCACCGTCATCATCACCATCACCA TCATCACAATCACCATCATCACCATCACCATCATCACCATCATCACTATC ATCACCATCATCACCATCACCATCATCACCATCATCACCATCACCATCAC CATCATCACCATCACCATCATCACCATCATCACTATCATCACCATCACAT CATCACCATCACCATCATCACCATCATCACCATCATCAACATCATCACCA TCACCATCATAACTATCACCATCATCACCATCACATCATCACCATCACCA TCATCACCATCAATATCATCACCATCAATATCATCACCATCATCACCATC ACCATCATCACCATCACCATCATCACCATCATCACTATCATCACCATCAC CATCATCACCATCATCAGCATCACCATCACCACCACATCATCATCACCAT CACCATCATCACCATTACCATCACATCACCATCATCATCACCACCATCAC CATCATCACCATCACCATCATCACCATCACCATCATCATCACCATCACAT CATCACCATCACCATCATCACCATCACCATCATCACCATCATCACTATCA TCACCATCACCATCATCACCATCATCACCATCATCAACATCATCACCATC ATCACCATCACCATCATCACCATCATCACCATCACATCATCACCGTCACC ATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CACNA1H_chr16_1148106_1226768	1185649	T T	TCGGCGTG others(775): Show TCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCG TAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCG TGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCAGAAGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCG TGCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTC GGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCC GGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0132 a0003c0132	a0003c0132t0030 a0003c0132t0030	a0003c0132t0030g0278 a0003c0132t0030g0278	1	338	0.0030	782	c.300 others(799): Show c.300-9319_300-9318insGTGCGTAGGGGCCGGAGGCGTGGTGTGT ACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGG TGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCGTAGGGGCCAGAAGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATGGGG CGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH3_chr16_68640310_68705292	68641956	T T	TTGCACTC others(775): Show TTGCACTCCAGCCTGGGCAACAAGAGCAAGACCTCGTCTCAAAAAAAAAA AAAAAGGAAAGACTTGAACCTCCTGAGTTCGATTCTGTTTCCTGGTAGAC CCTGACTGGCACACCTTGTGAATCACTTTATTTCCAATTTCCAAATCCAA TCCCAATCCACCCCCTCCCCCCCTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCA CTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GTGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCCCTCCCCCCTTTTTTGAGCTAGGGT CTCACTTTGTGCTGCTGGGAATGTAAAATGATGCAGTCGCAGCCAGGCGC GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGA TCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAACCA GGTCTTTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCACCTG TAGTCCCAGCTACTGAGAGGCTGAGGCAGGAGAATCGCCTGAACCCAGGA GGCAGAGGCTGCAGTGAGCCGAGATCGCGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01891.hp2 HG02145.hp1 others(11): Show HG00738.hp2 HG01891.hp2 HG02145.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02723.hp2 HG02922.hp2 HG02965.hp1 HG03195.hp2 HG03471.hp2 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0007 a0001c0003 a0001c0004 a0001c0007	a0001c0003t0001 a0001c0004t0006 a0001c0007t0005 a0001c0003t0001 a0001c0004t0006 a0001c0007t0005	a0001c0003t0001g0282 a0001c0004t0006g0006 a0001c0004t0006g0007 others(9): Show a0001c0003t0001g0282 a0001c0004t0006g0006 a0001c0004t0006g0007 a0001c0004t0006g0234 a0001c0004t0006g0293 a0001c0004t0006g0294 a0001c0004t0006g0295 a0001c0004t0006g0296 a0001c0004t0006g0297 a0001c0004t0006g0298 a0001c0007t0005g0283 a0001c0007t0005g0301	14	338	0.0414	782	c.-34 others(793): Show c.-3424_-3423insTGCACTCCAGCCTGGGCAACAAGAGCAAGACCTC GTCTCAAAAAAAAAAAAAAAGGAAAGACTTGAACCTCCTGAGTTCGATTC TGTTTCCTGGTAGACCCTGACTGGCACACCTTGTGAATCACTTTATTTCC AATTTCCAAATCCAATCCCAATCCACCCCCTCCCCCCCTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCGATCTCGACTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGCGCCCGCTACCACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCCTCCCCCCT TTTTTGAGCTAGGGTCTCACTTTGTGCTGCTGGGAATGTAAAATGATGCA GTCGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG GCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCC AACATGGTGAAACCAGGTCTTTACTAAAAATACAAAAATTAGCCGGGCAT GGTGGTGCGCACCTGTAGTCCCAGCTACTGAGAGGCTGAGGCAGGAGAAT CGCCTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCAC	CDH3	ENSG00000062038.15	transcript	ENST00000264012.9	protein_coding		3353		chr16	TogoVar
CDH3_chr16_68640310_68705292	68641956	T T	TTGCACTC others(775): Show TTGCACTCCAGCCTGGGCAACAAGAGCAAGACCTCGTCTCAAAAAAAAAA AAAAGGAAAGACTTGAACCTCCTGAGTTCGATTCTGTTTCCTGGTAGACC CTGACTGGCACACCTTGTGAATCACTTTATTTCCAATTTCCAAATCCAAT CCCAATCCACCCCCTCCCCCCCCTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCA CTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GTGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCCCTCCCCCCTTTTTTGAGCTAGGGT CTCACTTTGTGCTGCTGGGAATGTAAAATGATGCAGTCGCAGCCAGGCGC GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGA TCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAACCA GGTCTTTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCACCTG TAGTCCCAGCTACTGAGAGGCTGAGGCAGGAGAATCGCCTGAACCCAGGA GGCAGAGGCTGCAGTGAGCCGAGATCGCGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG03688.hp2 NA19090.hp1 HG01175.hp1 HG03688.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0016 a0002c0002t0021 a0001c0001t0003 a0001c0001t0016 a0002c0002t0021	a0001c0001t0003g0233 a0001c0001t0016g0290 a0002c0002t0021g0281 a0001c0001t0003g0233 a0001c0001t0016g0290 a0002c0002t0021g0281	3	338	0.0089	782	c.-34 others(793): Show c.-3424_-3423insTGCACTCCAGCCTGGGCAACAAGAGCAAGACCTC GTCTCAAAAAAAAAAAAAAGGAAAGACTTGAACCTCCTGAGTTCGATTCT GTTTCCTGGTAGACCCTGACTGGCACACCTTGTGAATCACTTTATTTCCA ATTTCCAAATCCAATCCCAATCCACCCCCTCCCCCCCCTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCGATCTCGACTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGCGCCCGCTACCACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCCTCCCCCCT TTTTTGAGCTAGGGTCTCACTTTGTGCTGCTGGGAATGTAAAATGATGCA GTCGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG GCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCC AACATGGTGAAACCAGGTCTTTACTAAAAATACAAAAATTAGCCGGGCAT GGTGGTGCGCACCTGTAGTCCCAGCTACTGAGAGGCTGAGGCAGGAGAAT CGCCTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCAC	CDH3	ENSG00000062038.15	transcript	ENST00000264012.9	protein_coding		3353		chr16	TogoVar
CDH3_chr16_68640310_68705292	68641956	T T	TTGCACTC others(775): Show TTGCACTCCAGCCTGGGCAACAAGAGCAAGACCTCGTCTCAAAAAAAAAA AAAAGGAAAGACTTGAACCTCCTGAGTTCGATTCTGTTTCCTGGTAGACC CTGACTGGCACACCTTGTGAATCACTTTATTTCCAATTTCCAAATCCAAT CCCAATCCACCCCCTCCCCCCCTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCA CTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GTGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCCCTCCCCCCTTTTTTGAGCTAGGGT CTCACTTTGTGCTGCTGGGAATGTAAAATGATGCAGTCGCAGCCAGGCGC GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGA TCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAACCA GGTCTTTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCACCTG TAGTCCCAGCTACTGAGAGGCTGAGGCAGGAGAATCGCCTGAACCCAGGA GGCAGAGGCTGCAGTGAGCCGAGATCGCGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG01361.hp1 others(6): Show HG01243.hp1 HG01255.hp1 HG01361.hp1 HG01978.hp1 HG02300.hp1 HG04184.hp1 NA18971.hp2 NA18978.hp1 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0251 a0001c0001t0003g0259 a0001c0001t0003g0261 others(6): Show a0001c0001t0003g0251 a0001c0001t0003g0259 a0001c0001t0003g0261 a0001c0001t0003g0272 a0001c0001t0003g0274 a0001c0001t0003g0277 a0001c0001t0003g0285 a0002c0002t0001g0257 a0002c0002t0001g0265	9	338	0.0266	782	c.-34 others(793): Show c.-3424_-3423insTGCACTCCAGCCTGGGCAACAAGAGCAAGACCTC GTCTCAAAAAAAAAAAAAAGGAAAGACTTGAACCTCCTGAGTTCGATTCT GTTTCCTGGTAGACCCTGACTGGCACACCTTGTGAATCACTTTATTTCCA ATTTCCAAATCCAATCCCAATCCACCCCCTCCCCCCCTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCGATCTCGACTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGCGCCCGCTACCACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCCTCCCCCCT TTTTTGAGCTAGGGTCTCACTTTGTGCTGCTGGGAATGTAAAATGATGCA GTCGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG GCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCC AACATGGTGAAACCAGGTCTTTACTAAAAATACAAAAATTAGCCGGGCAT GGTGGTGCGCACCTGTAGTCCCAGCTACTGAGAGGCTGAGGCAGGAGAAT CGCCTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCAC	CDH3	ENSG00000062038.15	transcript	ENST00000264012.9	protein_coding		3353		chr16	TogoVar
CDH3_chr16_68640310_68705292	68641956	T T	TTGCACTC others(775): Show TTGCACTCCAGCCTGGGCAACAAGAGCAAGACCTCGTCTCAAAAAAAAAA AAAGGAAAGACTTGAACCTCCTGAGTTCGATTCTGTTTCCTGGTAGACCC TGACTGGCACACCTTGTGAATCACTTTATTTCCAATTTCCAAATCCAATC CCAATCCACCCCCTCCCCCCCTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCA CTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GTGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCCCTCCCCCCTTTTTTGAGCTAGGGT CTCACTTTGTGCTGCTGGGAATGTAAAATGATGCAGTCGCAGCCAGGCGC GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGA TCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAACCA GGTCTTTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCACCTG TAGTCCCAGCTACTGAGAGGCTGAGGCAGGAGAATCGCCTGAACCCAGGA GGCAGAGGCTGCAGTGAGCCGAGATCGCGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0250 a0001c0003t0004g0250	1	338	0.0030	782	c.-34 others(793): Show c.-3424_-3423insTGCACTCCAGCCTGGGCAACAAGAGCAAGACCTC GTCTCAAAAAAAAAAAAAGGAAAGACTTGAACCTCCTGAGTTCGATTCTG TTTCCTGGTAGACCCTGACTGGCACACCTTGTGAATCACTTTATTTCCAA TTTCCAAATCCAATCCCAATCCACCCCCTCCCCCCCTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCGATCTCGACTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGCGCCCGCTACCACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCCTCCCCCCT TTTTTGAGCTAGGGTCTCACTTTGTGCTGCTGGGAATGTAAAATGATGCA GTCGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG GCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCC AACATGGTGAAACCAGGTCTTTACTAAAAATACAAAAATTAGCCGGGCAT GGTGGTGCGCACCTGTAGTCCCAGCTACTGAGAGGCTGAGGCAGGAGAAT CGCCTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCAC	CDH3	ENSG00000062038.15	transcript	ENST00000264012.9	protein_coding		3353		chr16	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(775): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCC TTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCC CTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCT CCCTTCCCCCTTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	354	0.0028	782	c.69 others(793): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCC TCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCC TCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(775): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCGGGGGGCTGACC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	342	0.0029	782	c.844 others(799): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGGCTGA CCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGAC GGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
CROCC2_chr2_240901336_240998311	240924959	A A	ACCCAGTC others(775): Show ACCCAGTCCCCACACTAACCCGGCCCCCCACACTACCCCGGCCCCCACAC TGACCCAGCCCCCACACTGACCCGGCCCCCACACTAACCCAGTCCCCCAC ACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCC ACACTAACCCAGTCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCC CACACTAACCCAGCCCCCCACACTACCCCGGCCCCCACACTGACCCAGTC CCCACACTGACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGC CCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCA GCCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACC CGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAA CCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACAC TAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCA CACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGT CCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTATCCC GGCCCCCCACACTAACCCGGCCCCCCACACTAC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0250 a0002c0012t0002g0250	1	350	0.0029	782	c.489 others(797): Show c.489-762_489-761insAGTCCCCACACTAACCCGGCCCCCCACACT ACCCCGGCCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCACAC TAACCCAGTCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCAC ACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGTCCCC ACACTGACCCAGCCCCCACACTAACCCAGCCCCCCACACTACCCCGGCCC CCACACTGACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGTC CCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAG TCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCC AGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAAC CCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTA ACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACAC TAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCAC ACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCA CACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCC CCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCAG CCCCCCACACTATCCCGGCCCCCCACACTAACCCGGCCCCCCACACTACC CC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTDP1_chr18_79674803_79759503	79684967	T T	TGCGGTGC others(775): Show TGCGGTGCCCCTTACGGGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGA CCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCTCCTTACGGGGTGTG AGGTCCTGGTGAGGAGGTCGGTGCAGGGACCTCGTGGTCTCTACTCCCGG TTTCTCTGCGGTGCCCCTTACGGGGTGTGAGGTCCTGGTGAGGAGGACGG TGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCCCCTTAC AGGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTAC TCCCGGTTTCTCTGCGGTGCCCCTTACAGGGTGTGAGGTCCTGGTGAGGA TCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCCCC TTACAGGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCT CTACTCCCGGTTTCTCTGCGGTGCCCCTTACGGGGTGTGAGGTCCTGGTG AGGAGGACGGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGG TGCCCCTTACGGGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCT CGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCCCCTTACGGGGTGTGAGG TCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCTAGTCCCGGTTT CTCCGCGGTGCTCCTTACGGAGTGTGAGGTCCTGGTGAGGAGGACGGTGC AGGGACCTCGTGGTCTCTAGTCCCGGTTTCTCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0078 a0001c0014t0001g0078	1	378	0.0027	782	c.314 others(799): Show c.314+4713_314+4714insCCCTTACGGGGTGTGAGGTCCTGGTGAG GATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCT CCTTACGGGGTGTGAGGTCCTGGTGAGGAGGTCGGTGCAGGGACCTCGTG GTCTCTACTCCCGGTTTCTCTGCGGTGCCCCTTACGGGGTGTGAGGTCCT GGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCT GCGGTGCCCCTTACAGGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGAC CTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCCCCTTACAGGGTGTGA GGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTT CTCTGCGGTGCCCCTTACAGGGTGTGAGGTCCTGGTGAGGATCAGTGCAG GGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCCCCTTACGGGGT GTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCTACTCC CGGTTTCTCTGCGGTGCCCCTTACGGGGTGTGAGGTCCTGGTGAGGAGGA CGGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCCCCT TACGGGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTC TCTAGTCCCGGTTTCTCCGCGGTGCTCCTTACGGAGTGTGAGGTCCTGGT GAGGAGGACGGTGCAGGGACCTCGTGGTCTCTAGTCCCGGTTTCTCCGCG GTGC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTSS_chr1_150725188_150770778	150744362	A A	ATTATATA others(775): Show ATTATATATTATATGTATATTATGTATACATAATATTTATATATTATATG TATATTATGTATACATAATATATTATATATTATATGTATATTATGTATAC ATAATATATTATATATTATATGTATATTATGTATACATAATATATTATAT ATTATATGTATATTATGTATACATAATATATTATATATTATATGTATATT ATGTATACATAATATATTATATATTATATGTATATTATGTATACATAATA TATTATATATTATATGTATATTATGTATACATAATATATTATATATTATA TGTATATTATGTATACATAATATATTATATATTATATGTATATTATGTAT ACATAATATATTATATATTATATGTATATTATGTATACATAATATATTAT ATATTATATGTATATTATGTATACATAATATATTATATATTATATGTATA TTATGTATACATAATATTTATATATTATATGTATATTATGTATACATAAT ATATTATATATTATATGTATATTATGTATACATAATATTTATATATTATA TGTATATTATGTATACATAATATTTATATATTATATGTATATTATGTATA CATAATATTTATATATTATATGTATATTATGTATACATAATATTTATATA TTATATGTATATTATGTATACATAATATTTATATATTATATGTATATTAT GTATACATAATATTTATATATTATATGTATATTATGTATACATAATATTT ATATATTATATGTATATTATGTATACATAATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0249 a0001c0001t0003g0249	1	344	0.0029	782	c.896 others(799): Show c.896+3414_896+3415insATATTATGTATACATAATATACATATAA TATATAAATATTATGTATACATAATATACATATAATATATAAATATTATG TATACATAATATACATATAATATATAAATATTATGTATACATAATATACA TATAATATATAAATATTATGTATACATAATATACATATAATATATAAATA TTATGTATACATAATATACATATAATATATAAATATTATGTATACATAAT ATACATATAATATATAAATATTATGTATACATAATATACATATAATATAT AATATATTATGTATACATAATATACATATAATATATAAATATTATGTATA CATAATATACATATAATATATAATATATTATGTATACATAATATACATAT AATATATAATATATTATGTATACATAATATACATATAATATATAATATAT TATGTATACATAATATACATATAATATATAATATATTATGTATACATAAT ATACATATAATATATAATATATTATGTATACATAATATACATATAATATA TAATATATTATGTATACATAATATACATATAATATATAATATATTATGTA TACATAATATACATATAATATATAATATATTATGTATACATAATATACAT ATAATATATAATATATTATGTATACATAATATACATATAATATATAATAT ATTATGTATACATAATATACATATAATATATAATATATTATGTATACATA ATATACATATAATATATAAATATTATGTATACATAATATACATATAATAT ATAA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(775): Show GCTATAACCACCACCACCACCACTATAACCATCACCACCATCACCACTAT AACCACCACTACCACCACCACCACTATAACCACCATCATCATCACCACCA CTACCACTACTTTAACCATTACCACCATTACTACTATAACCACCACCACC ACCACCACCACCACTATAATCATTACCACTATAACCACCACTACCACCAC CACCACCATTATAACCATCACCACCACCACTATAACCACCATCATCATCA CCACCACTACCACTACTTTAACCATTACCACCATTACTACTATAACCACC ACCACCACCACCACCACCACTATAATCATTACCACTATAACCACCACTAC CACCACCACCACCATTATAACCATCACCACCACCACTATAACCACCATCA TCATCACCACCACTACCACTACTATAACCATTACCACCATTACTACTATA ACCACCACCACCACCACCACCACCACTATAATCATTACCACTATAACCAC CACTACCACCACTACCACTATGATAACCATCACCAACACCACTATAACCA CCAATGCCAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGACCAACCA GGGATAGGACCAACCAGGACCAACCAGGACCAACACCACCACCACTACTA CCACTACTATAACCATCACCACCATCACTGCTATAATCACCACCACCACC ACCATCACTATAATCATCACCATCATCACCACTATAACCACCACCACCAC CACCACCACCAGTTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0005 a0001c0002t0004g0005	1	230	0.0044	782	c.724 others(801): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGTGGTAGTGGTG GTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGT GGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGG TGGTGGTGGTGGTTATAGTAGTAATGGTGGTAATGGTTAAAGTAGTGGTA GTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAAT GGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGG TGGTGGTGGTGGTGGTGGTTATAGTAGTAATGGTGGTAATGGTTAAAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGTAGT GGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGGTGG TTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DLGAP2_chr8_732628_1713476	1164157	C C	CCCCCCAG others(775): Show CCCCCCAGGGCCTGTCGTTTTGGTTTGTGGGGACAGATTTTTCTGTGAGT CCCCCCAGGGCCCCTCGTTTTGGTTTGTGGGGACTGATTGTGAGCCCCCC AGGGTTTGTTTTGGTTTGTGCGGATAGATTTTTCTGTGAGCCCCCAGGGC CCGTCATTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCAGGGCCCGTCA TTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCAGGGCCCGTCATTTTGG TTTGTGGGGACAGATTTTTCTGTGAGTCCCCAGGGCCCATCGTTTTGGTT TGTGGGGATTTTTCTGTGAGCCCCCAGGGCCCGTCGTTTTGGTTTGTGGG GATTTTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGATT TTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGACAGATT TTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGACAGATT TTTCTGTGAGCCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGACAGATTT TTCTGTGAGCCCGCAGGGCCCGTCATTTTGGTTTGTGGGGATTTTTCTGT GAGCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCC CCAGGGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGTCCCC AGGGCCCATCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCAGGGCC CGTCGTTTTGGTTTGTGGGGATTTTTCTGTGAG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	40	0.0250	782	c.74- others(799): Show c.74-94683_74-94682insTGTCGTTTTGGTTTGTGGGGACAGATTT TTCTGTGAGTCCCCCCAGGGCCCCTCGTTTTGGTTTGTGGGGACTGATTG TGAGCCCCCCAGGGTTTGTTTTGGTTTGTGCGGATAGATTTTTCTGTGAG CCCCCAGGGCCCGTCATTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCA GGGCCCGTCATTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCAGGGCCC GTCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGTCCCCAGGGCCCAT CGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCAGGGCCCGTCGTTTT GGTTTGTGGGGATTTTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTTGGTT TGTGGGGATTTTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTTGGTTTGTG GGGACAGATTTTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTTGGTTTGTG GGGACAGATTTTTCTGTGAGCCCCCCAGGGCCCGTCGTTTTGGTTTGTGG GGACAGATTTTTCTGTGAGCCCGCAGGGCCCGTCATTTTGGTTTGTGGGG ATTTTTCTGTGAGCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGATTTTT CTGTGAGCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTCT GTGAGTCCCCAGGGCCCATCGTTTTGGTTTGTGGGGATTTTTCTGTGAGC CCCCAGGGCCCGTCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCAG GGCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPEP1_chr16_89608642_89643433	89619063	C C	CCCCCCCG others(775): Show CCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTC CCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGC AGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCTGCCCCCCTGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTC CCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGC AGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGC CCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTG CAGCCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCTCTGCAGCCCC CTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	250	0.0040	782	c.-10 others(801): Show c.-107+5350_-107+5351insGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCTGCCCCCCCTGCTCCCCTCCCTGCAG CTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCC CCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGC CCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCT CCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCC TCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCC CCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGC CCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCC TCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCT CCCCTCTCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EGFL7_chr9_136657916_136677678	136675317	C C	CAGGGGGC others(775): Show CAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCC AGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAG GCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGAC TGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAG GGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGG GGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGAGGGGGCCAGCAG GTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGG GGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGGACTGG GAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGA AGGGAGGGGGCCAGCAGGTAGGCTGGGGGACTGGCAGCAGGGAGGGAGGG GGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAG GTAGGCTGGGACTGGAGCAGGGAGGGAGGGGGGGCCAGCAGGTAGGCTGG GGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCA GCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGG GAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCC AGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	782	c.30 others(793): Show c.3031_*3032insAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCA GGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAG GGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGC AGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCT GGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGG CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGA GGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGC CAGCAGGTAGGCTGGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGGAGCAGGGAAGGGAGGGGGCCAGCAGGTAGGCTGGGGGACTGGC AGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAG GGAGGGGGCCAGCAGGTAGGCTGGGACTGGAGCAGGGAGGGAGGGGGGGC CAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTA GGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGA CTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCA GGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2640		chr9	TogoVar
FBXO47_chr17_38931432_38972403	38946669	T T	TATATATA others(775): Show TATATATAAATATATAAATATATAAATAAAAATATATAAAAATATATACA TATATAAATATAAATATATAATATATAAATATATAAATATATAAATATAT AAATATAAATATATAAAAATATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATAAATATATAAATAT ATATAAATATATAAATATATAAATATATATAAATATATAAATATATAAAT ATATAAAAATATATAAATACATAAATATATAAATATATAAATATATAAAT ATATAAATATATAAATATATATAAGTACATATAAATATATATACATAAAT ATATAAATATATAAATAAATATATAAATACATAATATATATAAATATAAA ATATATATAATATATAAAATATATTAAAAATATAAAAATATATATAAAAT ATATATAAATATATAAAAATATATAAAAAATATATACACATATAAATATA TATAAAAATATATAAATATATATAAAAATATATAAATATATATTATATAT AAATATATAATATATAAATATATATAAATATATAAATATATATAAATATA TACAATATATAAATATATATAAATATATACAATATATAAATATATATAAA TATATACAATATATAAATATATATAAATATATACAATATATAAATATATA TAAATATATATAATATATAAATATATATAAATATATACAATATATAAATA TATATAAATATATATAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02965.hp1 HG03041.hp1 HG02145.hp2 HG02965.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277	3	344	0.0087	782	c.617 others(799): Show c.617-1534_617-1533insTATATATATTTATATATTATATATATTT ATATATATTTATATATTGTATATATTTATATATATTTATATATTATATAT ATTTATATATATTTATATATTGTATATATTTATATATATTTATATATTGT ATATATTTATATATATTTATATATTGTATATATTTATATATATTTATATA TTGTATATATTTATATATATTTATATATTTATATATATTTATATATTATA TATTTATATATAATATATATTTATATATTTTTATATATATTTATATATTT TTATATATATTTATATGTGTATATATTTTTTATATATTTTTATATATTTA TATATATTTTATATATATTTTTATATTTTTAATATATTTTATATATTATA TATATTTTATATTTATATATATTATGTATTTATATATTTATTTATATATT TATATATTTATGTATATATATTTATATGTACTTATATATATTTATATATT TATATATTTATATATTTATATATTTATATATTTATGTATTTATATATTTT TATATATTTATATATTTATATATTTATATATATTTATATATTTATATATT TATATATATTTATATATTTATATATTTATATATATTTATATATTTATATA TTTTTATATATTTATATATTTTTATATATTTATATATTTTTATATATTTA TATTTATATATTTATATATTTATATATTTATATATTATATATTTATATTT ATATATGTATATATTTTTATATATTTTTATTTATATATTTATATATTTAT ATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(775): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATATATAAATATATAAATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATAAATATATAAATAT ATATAAATATATAAATATATAAATATATAAAAATATATAAATACATAAAT ATATAAATATATAAATATATAAATATATAAATATATATAAGTACATATAA ATATATATACATAAATATATAAATATATAAATATATAAATATATAAATAC ATAATATATATAAATATAAAATATATATAATATATAAAATATATTAAAAA TATAAAAATATATATAAAAAATATATAAATATATAAAAATATATAAAAAA TATATACACATATAAATATATATAAAAATATATAAATATATATAAAAATA TATAAATATATATTATATATAAATATATAATATATAAATATATATAAATA TATAAATATATATAAATATATACAATATATAAATATATATATACAATATA TAAATATATATAAATATATACAATATATAAATATATATAAATATATACAA TATATAAATATATATAAATATATACAATATATAAATATATATAAATATAT ATAATATATAAATATATATAAATATATAAATATATATAAATATATATAAT ATATAAATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG02559.hp2 HG01891.hp2 HG02258.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0045 a0001c0001t0001g0087 a0001c0001t0001g0088	3	344	0.0087	782	c.617 others(799): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTTATATATATTTATATATTATATATTTATATATAATATATAT TTATATATTTTTATATATATTTATATATTTTTATATATATTTATATGTGT ATATATTTTTTATATATTTTTATATATTTATATATTTTTTATATATATTT TTATATTTTTAATATATTTTATATATTATATATATTTTATATTTATATAT ATTATGTATTTATATATTTATATATTTATATATTTATATATTTATGTATA TATATTTATATGTACTTATATATATTTATATATTTATATATTTATATATT TATATATTTATGTATTTATATATTTTTATATATTTATATATTTATATATT TATATATATTTATATATTTATATATTTATATATATTTATATATTTATATA TTTTTATATATTTATATATTTTTATATATTTATATTTATATATTTATATA TTTATATATTTATATATTATATATTTATATTTATATATGTATATATTTTT ATATATTTTTATTTATATATTTATATATTTATATATATTTATATATTCAT ATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FMR1NB_chrX_147976337_148031665	147992458	C C	CGGGGGGG others(775): Show CGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CAGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGC CGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGCACGGCTGGCCGGGCG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0135 a0002c0002t0001g0135	1	275	0.0036	782	c.278 others(801): Show c.278-10741_278-10740insGGGGGCTGACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGG CGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCCGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCC CTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCG GGCGGG	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1NB_chrX_147976337_148031665	147992458	C C	CGGGGGGG others(775): Show CGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCAGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGC CGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGCACGGCTGGCCGGGCG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0178 a0002c0002t0001g0178	1	275	0.0036	782	c.278 others(801): Show c.278-10741_278-10740insGGGGGCTGACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGG CGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCC CTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCG GGCGGG	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
FOXK2_chr17_82514732_82609602	82586254	C C	CGGGGGGG others(775): Show CGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGC GGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGA GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGCCGGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGCCGGGGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTGAAAGGTGGCCGGGGGGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTCAAAGGTGGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0110 a0002c0002t0001g0110	1	308	0.0033	782	c.157 others(797): Show c.1576+54_1576+55insGGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTCAAAGGTGGGCCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTCAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGG TGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGT GGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTG GCCGGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTG GG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586256	G G	GGGGGGGA others(775): Show GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGG AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGA AAGGAGGAGAGGGGGGACCACAGGGAGGTCAAAGGTAGGCCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTCAAAGGTGGGCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0029 a0001c0003t0008g0029	1	308	0.0033	782	c.157 others(797): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAAGT CAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAG GTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGT GGGCCGGGGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTCAAAGGTA GGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGG GCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG CCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC GGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCC GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGG GG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586450	C C	CAGGGGGG others(775): Show CAGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCC GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGAGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGAGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGAGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGGCG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0144 a0001c0001t0016g0144	1	308	0.0033	782	c.157 others(799): Show c.1576+250_1576+251insAGGGGGGAATGGAGGAGAGGGGAGACCA CAGGGAGGTCAAAGGTAGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTCAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTCAAAGGTGGGCAGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TCAAAGGTGGGCAGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCGGGAGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTC AAAGGTGGGCCGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAG GTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGT GGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTG GGCG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
GAK_chr4_844277_937316	927344	G G	GTCCGCAC others(775): Show GTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGCTCCGCACTGCCC CGCACCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCAACCCCCCCC ACCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCGGCTCACCA GCGCTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCGCTCCGCACTG CCCCGCACCCCTCCCGGCTCACCAGCGCTCCGCACTGCCCCGCACCCCTC CCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGC GCTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCC CCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCC CGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCAGCTCACCTGCGC TCCGCACTGCCCCACACCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCC GCACCCCTCCCGGCTCACCAGCGCTCCGCACTGCCCCGCACCCCTCCCCG CTCACCTGCGCTCCGCACTGCCCCGCACCCCTTCCCGCTCACCTGCAGTC CGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCAC ACCCCTCCCGGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCGGCT CACCTGCAGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCCCTCCG CACTGCCCCACACCCCTCCCGGCTCACCTGCGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0249 a0001c0005t0002g0249	1	390	0.0026	782	c.145 others(799): Show c.145+4698_145+4699insGCGCAGGTGAGCCGGGAGGGGTGTGGGG CAGTGCGGAGGGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACTGC AGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCCGGGA GGGGTGTGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCA GTGCGGACTGCAGGTGAGCGGGAAGGGGTGCGGGGCAGTGCGGAGCGCAG GTGAGCGGGGAGGGGTGCGGGGCAGTGCGGAGCGCTGGTGAGCCGGGAGG GGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGTGGGGCAGT GCGGAGCGCAGGTGAGCTGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGT GAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGG TGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGC GGAGCGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGA GCGGGGAGGGGTGCGGGGCAGTGCGGAGCGCTGGTGAGCCGGGAGGGGTG CGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGG AGCGCTGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGC GGGGTGGGGGGGGTTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGG GTGCGGGGCAGTGCGGAGCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTG CGGA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(775): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TGAATATATATATTTATATATATATATAAATATATATATATATATTTATA TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATTTATATATAAATATATATATTTA TATATAAATATATATATTTATATATAAATATATATATTTATATATAAATA TATATATAAATATATATATTTATATATAAATATATATATTTATATATATA TTTATATATAAATATATATATTTATATATAAATATATATATTTATATATA AATATATATATTTATATATATAAATATATATATTTATATATATAAATATA TATATATTTATATTTACAAATATATATATTTATATATATATTTATATTTA TATATATTTATATTTATATATATATATATAAATATATATTTATGTATATT TATATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	208	0.0048	782	c.-97 others(799): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATGAATATATATATTTATATATATATATAAATATATATATATAT ATTTATATATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATTTATATATAAATATAT ATATTTATATATAAATATATATATTTATATATAAATATATATATTTATAT ATAAATATATATATAAATATATATATTTATATATAAATATATATATTTAT ATATATATTTATATATAAATATATATATTTATATATAAATATATATATTT ATATATAAATATATATATTTATATATATAAATATATATATTTATATATAT AAATATATATATATTTATATTTACAAATATATATATTTATATATATATTT ATATTTATATATATTTATATTTATATATATATATATAAATATATATTTAT GTATATTTATATATAAATATAAATATATATTTATATATAAATATAAATAT ATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRAMD4_chr22_46615386_46684785	46635113	A A	AGCCACTC others(775): Show AGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCC ACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTC CTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCCAGCCACTCCTGT CCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCTTG GGGAGCCGTGTCCTCCCTGCCCCCGCCCCCAGCCACTCCTGTCCTGGGGA ACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCG TGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTC CTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCC CTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGC CTCCACCCCTGGCCACTCCTGTCTTGGGGAGCCGTGTCCTCCCTGCCCCC ACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCC CTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGG CCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCAC TCCTGTCTTGGGGAGCCGTGTCCTCCCTGCCCCCGCCCCCAGCCACTCCT GTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCC TGGGGAACCGTGTCCTCCCTGCCTCCACCCCTG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0311 a0001c0001t0043g0311	1	328	0.0031	782	c.163 others(799): Show c.163-2691_163-2690insCCCGACCCCGGCCACTCCTGTCCTGGGG AACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACC GTGTCCTCCCTGCCCCCACCCCCAGCCACTCCTGTCCTGGGGAACCGTGT CCTCCCTGCCTCCACCCCTGGCCACTCCTGTCTTGGGGAGCCGTGTCCTC CCTGCCCCCGCCCCCAGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTG CCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTC CACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACC CCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTG GCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCA CTCCTGTCTTGGGGAGCCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCC TGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTC CTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGG GGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCTTGGGGAG CCGTGTCCTCCCTGCCCCCGCCCCCAGCCACTCCTGTCCTGGGGAACCGT GTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCC TCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCC TGCC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635187	C C	CTCCCTGC others(775): Show CTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCC CTGCCCCCGACCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGC CCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCC GCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCC CTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGG CCACTCCTGTCCTGGGGAACCGTGTCTTCCCTGCCCCCACCCCCGGCCAC TCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCT GTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCC TGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGG GAACCGTGTCTTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGAAC CGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGAGGCCGTG TCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCTT CCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCT GCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCC CCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGA CCCCGGCCACTCCTGTCCTGGGGGACCGTGTCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03516.hp2 NA18906.hp1 HG02976.hp1 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0016 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0016	3	328	0.0092	782	c.163 others(799): Show c.163-2641_163-2640insACCCCGGCCACTCCTGTCCTGGGGAACC GTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGAGGCCGTGT CCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTC CCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTG CCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCC CACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCTTCCCTGCCCCCACC CCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCG GCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCTGGCCA CTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCC TGTCCTGGGGAACCGTGTCTTCCCTGCCCCCACCCCCGGCCACTCCTGTC CTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGG GAGGCCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAA CCGTGTCTTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGT GTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCC TCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCC TGCCCCCGACCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCC CCCG	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
LORICRIN_chr1_153254687_153267124	153256763	A A	ATATATAG others(775): Show ATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATAT AAAACTATATATAGTCACATATGTATATAAAACTATAGTCACATATGTAT ATAAAACTAAATATAGTCATATATGTATATAAAACTATATATAGTTATAT GTATATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATATAT GTATATAAAACTATATACAGTCATATGTATATAAAACTATATACAGTCAT ATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATAC AGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACT ATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATAT AAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATAT GTATATAAAACTATATACAGTCATATATGTATATAAAACTATATATAGTC ATATATGTATATAAAACTATATAGTTATATATGTATATAAAACTATAGTT ATATATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTAT ATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATAT ATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTATGTAA AACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTATGTATGT AAAACTATATACAGTTATGTATGTATGTAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	782	c.-29 others(793): Show c.-2994_-2993insTATATAGTCACATATGTATATAAAACTATATATA GTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTA TAGTCACATATGTATATAAAACTAAATATAGTCATATATGTATATAAAAC TATATATAGTTATATGTATATAAAACTATATATAGTTATATGTATATAAA ACTATAGTCATATATGTATATAAAACTATATACAGTCATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTA TATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATA TATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTA TATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATA AAACTATATATAGTCATATATGTATATAAAACTATATAGTTATATATGTA TATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATG TAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTA AAACTATAGTTATATATGTAAAACTATAGTTATATATGTAAAACTATAGT TATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATATACA GTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2923		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256763	A A	ATATATAG others(775): Show ATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATAT AAAACTATATATAGTCACATATGTATATAAAACTATAGTCACATATGTAT ATAAAACTAAATATAGTCATATATGTATATAAAACTATATATAGTTATAT GTATATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATATAT GTATATAAAACTATATACAGTCATATGTATATAAAACTATATACAGTCAT ATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATAC AGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACT ATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATAT AAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATAT GTATATAAAACTATATACAGTCATATATGTATATAAAACTATATATAGTC ATATATGTATATAAAACTATATAGTTATATATGTATATAAAACTATAGTT ATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTAT ATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATAT ATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTATGTAA AACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTATGTATGT AAAACTATATACAGTTATGTATGTATGTAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	782	c.-29 others(793): Show c.-2994_-2993insTATATAGTCACATATGTATATAAAACTATATATA GTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTA TAGTCACATATGTATATAAAACTAAATATAGTCATATATGTATATAAAAC TATATATAGTTATATGTATATAAAACTATATATAGTTATATGTATATAAA ACTATAGTCATATATGTATATAAAACTATATACAGTCATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTA TATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATA TATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTA TATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATA AAACTATATATAGTCATATATGTATATAAAACTATATAGTTATATATGTA TATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATG TAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTA AAACTATAGTTATATATGTAAAACTATAGTTATATATGTAAAACTATAGT TATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATATACA GTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2923		chr1	TogoVar
MADCAM1_chr19_491486_510343	491800	C C	CCCCCTCC others(775): Show CCCCCTCCCCTGGGCGGAGACAGCCCCAGGCACCGCCTCTCCCCCTGGGC GGAGCCAGCCCCAAGCCCCCCTCCCCTGGGCGGAGACAGCCCCAGGCACC GCCTCTCCCCTGGGCGGAGCCAGCCCCAAGCCCCCCTCCCCTGGGCGGAG ACAGCCACAGGCCCCGCCTCTCCCCTGGGCGGAGCCAGCCCCAAGCCCCC CTCCCCTGGGCGGACACAGCCCCAGGCACCGCCTCTCCCCTGGGCGGAGC CAGCCCCAAGCCCCCCTCCCCTGGGCGGAGACAGCCCCAGGCACCGCCTC TCCCCTGGGCGGAGCCAGCCCCAAGCCCCCCTCCCCTGGGCGGAGCCAGC CCCAGGCACCGCCTCTCCCCTGGGCGGAGCCAGCCCCAAGCCCCCCCTCC CCTGGGCGGAGACAGCCCCAGGCACCGCCCTCTCCCCTGGGCGGAGCCAG CCCCAAGCCCCCCCTCCCCTGGGCGGAGACAGCCCCAGGCACCCGCCTCT CCCCTGGGCGGAGCCAGCCCCAAGCCCCCCTCCCCTGGGCGGAGACAGCC CCAGGCACCGCCTCTCCTCTGGGCGGAGCCAGCCCCAAGCCCCCCTCCCT GGGCGGAGACAGCCCCAGGCACCGCCTCTCCCCTGGGCGGAGCCAGCCCC AAGCCCCCCTCCCCTGGCGGAGACAGCCCCAGGCACCGCCTCTCCCCTGG GCGGAGCCAGCCCCAAGCCCCCCCTCCCCTGGGCGGAGACAGCCACAGGC CCCGCCTCTCCCCTGGGCGGAGCCAGCCCCAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0044 a0004c0003t0002g0044	1	364	0.0028	782	c.-47 others(793): Show c.-4700_-4699insCCCCTCCCCTGGGCGGAGACAGCCCCAGGCACCG CCTCTCCCCCTGGGCGGAGCCAGCCCCAAGCCCCCCTCCCCTGGGCGGAG ACAGCCCCAGGCACCGCCTCTCCCCTGGGCGGAGCCAGCCCCAAGCCCCC CTCCCCTGGGCGGAGACAGCCACAGGCCCCGCCTCTCCCCTGGGCGGAGC CAGCCCCAAGCCCCCCTCCCCTGGGCGGACACAGCCCCAGGCACCGCCTC TCCCCTGGGCGGAGCCAGCCCCAAGCCCCCCTCCCCTGGGCGGAGACAGC CCCAGGCACCGCCTCTCCCCTGGGCGGAGCCAGCCCCAAGCCCCCCTCCC CTGGGCGGAGCCAGCCCCAGGCACCGCCTCTCCCCTGGGCGGAGCCAGCC CCAAGCCCCCCCTCCCCTGGGCGGAGACAGCCCCAGGCACCGCCCTCTCC CCTGGGCGGAGCCAGCCCCAAGCCCCCCCTCCCCTGGGCGGAGACAGCCC CAGGCACCCGCCTCTCCCCTGGGCGGAGCCAGCCCCAAGCCCCCCTCCCC TGGGCGGAGACAGCCCCAGGCACCGCCTCTCCTCTGGGCGGAGCCAGCCC CAAGCCCCCCTCCCTGGGCGGAGACAGCCCCAGGCACCGCCTCTCCCCTG GGCGGAGCCAGCCCCAAGCCCCCCTCCCCTGGCGGAGACAGCCCCAGGCA CCGCCTCTCCCCTGGGCGGAGCCAGCCCCAAGCCCCCCCTCCCCTGGGCG GAGACAGCCACAGGCCCCGCCTCTCCCCTGGGCGGAGCCAGCCCCAAG	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding		4685		chr19	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(775): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATT CCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA TTCCTTAAAATAATTCCTCTGTTTTAAGGAATT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp2 HG02809.hp1 others(14): Show HG00741.hp2 HG01109.hp2 HG02809.hp1 HG03239.hp2 NA18941.hp2 NA18947.hp1 NA18954.hp1 NA18957.hp2 NA18963.hp2 NA18993.hp2 NA18999.hp2 NA19004.hp2 NA19057.hp1 NA19079.hp1 NA19081.hp1 NA20805.hp1 NA20805.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0005 a0001c0001 a0003c0003 a0005c0005	a0001c0001t0001 a0003c0003t0001 a0005c0005t0003 a0001c0001t0001 a0003c0003t0001 a0005c0005t0003	a0001c0001t0001g0147 a0003c0003t0001g0016 a0003c0003t0001g0026 others(14): Show a0001c0001t0001g0147 a0003c0003t0001g0016 a0003c0003t0001g0026 a0003c0003t0001g0027 a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0034 a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0045 a0003c0003t0001g0049 a0003c0003t0001g0052 a0003c0003t0001g0057 a0005c0005t0003g0009	17	288	0.0590	782	c.483 others(797): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATT CCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA TTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTC CTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAT TA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(775): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGG GGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGG GGTGGGGGGAAGGGGGGAAGGGGAAAGGGGGTGAGGGGAAGGGGGGAAGG GGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGA GGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGG GAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAG AGAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGG GAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGG AGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGG GAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGTGGAGGGG GAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGA GGGGAGGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGG GAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0269 a0001c0001t0013g0269	1	272	0.0037	782	c.250 others(797): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCTCCCTCCCCCTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCCTC CCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCC CTCCCCCTCCACTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCC CTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC TCTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTC CCCCCTTCCCCCCTTCCCCTCACCCCCTTTCCCCTTCCCCCCTTCCCCCC ACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTT TCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCC TCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCC CT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(775): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGG GGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGG GGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGG GGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGGAGGGGGAGGGGA GGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGG AGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGAA GAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAA GAGAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGG GGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGG GAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAG GGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGTGGAGGG GGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGG AGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGG GAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0014 a0003c0005t0014	a0003c0005t0014g0264 a0003c0005t0014g0264	1	272	0.0037	782	c.250 others(797): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCTCCCTCCCCCTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCC CCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCC TCCCCCTCCACTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCC TCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCC CTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCC TCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCT CTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCT CTCTTCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTT CCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCC ACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTT TCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCC TCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCC CT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(775): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCACCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAG CCCTCCGCCGGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGTGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGATGGAGGTGGGGGGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGTCAGTCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCACGTCC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0248 a0001c0004t0001g0248	1	256	0.0039	782	c.241 others(801): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCCGG CGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGT GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(775): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAG CCCTCCGCCGGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGTGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGATGGAGGTGGGGGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGTCAGTCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCACGTCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0101 a0001c0005t0001g0101	1	256	0.0039	782	c.241 others(801): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCCGG CGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(775): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAG CCCTCCGCCGGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGTGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGATGGAGGTGGGGGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGTCAGTCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCACGTCC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0121 a0001c0004t0001g0121	1	256	0.0039	782	c.241 others(801): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCCGG CGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(775): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAG CCCTCCGCCGGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGTGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGATGGAGGTGGGGGGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGTCAGTCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCACGTCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0099 a0001c0005t0001g0099	1	256	0.0039	782	c.241 others(801): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCCGG CGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(775): Show GTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGT GGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT AGTCGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTAGTGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTAGTGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTAGTGGTGGTGGTGGTGATGGT GGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTAGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTAGTGGT GGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGG TGGTGGTGGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTA GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTAGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGG TGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02976.hp2 HG01884.hp1 HG02976.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0233 a0004c0004t0003g0237 a0004c0004t0003g0233 a0004c0004t0003g0237	2	384	0.0052	782	c.160 others(799): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCGCCGCCAC CACCACCACCACCACCATCACCACCATCACCACCATCACCACCATCACCA CCACCACCACTACCACCACCATCACCACCACCACCATCACCACCACCACC ACTACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCAC CACCACCACCACCACTACCACCATCACCACCACCACCACCACCACCACTA CCACCACCATCACCACCACCACCACTACCACCACCATCACCACCACCACC ATCACCACCACCACCACTACCACCACCATCACCACCACCACCATCACCAC CACCACCACTACCACCACCACCACCACCATCACCACCACCACCACCACCA CGACTACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCAC CACCACCACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCG CCGCCACCACCACCACCACCACCATCACCACCATCACCACCATCACCACC ACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
PAK2_chr3_196734857_196837647	196811344	C C	CCCTTCCC others(775): Show CCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCCTCCCTTCC CTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCTTCCCTT CCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCC TCCCTTCCTTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCT CCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTC CCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCCTCCCTTCCT TCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCC CTTCCTTCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCCTCCCTTCCTT CCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCTTCCC TTCCCTCCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTC CTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCT TCCTTCCTTCCCTTCCCTCCCTTCCTTCCTTCCTTCCCTTCCCTCCCTTC CTTCCCTCCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCTTCCCTCCCTTC CCTTCCTTCCCTTCCTTCCTTCCTTCCCTTCCTTCCCTTCCTTCCTTCCC TTCCTTCCCTCCCTTCCCTTCCTTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0172 a0001c0001t0023g0172	1	178	0.0056	782	c.773 others(797): Show c.773+697_773+698insCTCCCTTCCTTCCTCCCTTCCTTCCCTTCC TTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTT CCTTCCTTCCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCT TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCTTCCCTT CCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTC CCTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCTTCCCT TCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCC CTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCTTCCCTT CCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCC TCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCTTCCTTCCTTC CTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCT CCCTTCCTTCCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCTTCCTTCC CTTCCCTCCCTTCCTTCCCTCCCTTCCCTTCCCTTCCTTCCCTTCCCTTC CTTCCCTCCCTTCCCTTCCTTCCCTTCCTTCCTTCCTTCCCTTCCTTCCC TTCCTTCCTTCCCTTCCTTCCCTCCCTTCCCTTCCTTCCCTTCCTTCCTT CC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PERM1_chr1_970198_987093	977065	C C	CAACCCCG others(775): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGA ACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCAC CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAAC CGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03490.hp1 HG01074.hp2 HG03490.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0162 a0006c0008t0001g0087 a0001c0001t0001g0162 a0006c0008t0001g0087	2	408	0.0049	782	c.215 others(799): Show c.2150-442_2150-441insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGC GGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGT TCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGG AGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGG GGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGG AGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGC GGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGG TTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGG AGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGG GGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTG GGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGT TCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGG AGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGG GGTT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PHRF1_chr11_571470_617222	585208	T T	TGCCCTTT others(775): Show TGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTG AGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	279	0.0036	782	c.215 others(799): Show c.215-1865_215-1864insTCTTTCCAGCTTGAGGTAGTAGCTCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATG AGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGC ATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	585221	T T	TTGAGGTA others(775): Show TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTTCAGCTTGAGGTA GTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCTCT TTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAACTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCTCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGT AGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0008 a0013c0021t0008	a0013c0021t0008g0251 a0013c0021t0008g0251	1	279	0.0036	782	c.215 others(799): Show c.215-1957_215-1956insTCTTTTCAGCTTGAGGTAGTAGCTCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCATG AGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAACTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(775): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTG TGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGG TGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGA GTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGG GGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACT GAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGC GGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCA CTGAGTCTGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGG GGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCA CTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGAGGG GGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGCGTGGGGATG CACTGAGTCTGGGGGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGA GGGGGGGGTGTGGGGATGCACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	282	0.0036	782	c.299 others(797): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCA GTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCCCCCTCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACT CAGTGCATCCCCACACCCCCCCCTCCCCAGACTCAGTGCATCCCCACGCC CCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCAGACT CAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACAC CCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGA CTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCAC ACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCA GACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCC ACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCC CAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCC CCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACGCCCCCCCTCCC CCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCAT CCCCATGCCCCGCCCTCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCC TC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PLCL2_chr3_16879955_17095604	16980138	G G	GGGGGGGC others(775): Show GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGT GGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCA CTTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCACCCCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC ATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGTAG GGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCAGCTGGCCG GGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGG GCGGGAGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCAACTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC ACACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0005 a0001c0012t0001g0005	1	250	0.0040	782	c.328 others(801): Show c.328-29521_328-29520insCCACCTCCCTCCCGGACGGGGCAGCT GGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGC GCCCCTCACTTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCACC CCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTT CCCAGTAGGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCA GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGG CTGGCCGGGCGGGAGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCAA CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCACACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTG ACCCCC	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	16980138	G G	GGGGGGGC others(775): Show GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGT GGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCA CTTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC ATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGTAG GGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCAGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGG GTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGG CGGGAGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGACTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC ACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	250	0.0040	782	c.328 others(801): Show c.328-29521_328-29520insCCACCTCCCTCCCGGACGGGGCAGCT GGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGC GCCCCTCACTTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTT CCCAGTAGGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCA GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGG CTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCGGC TGGCCGGGCGGGAGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGA CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTG ACCCCC	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	16980138	G G	GGGGGGGC others(775): Show GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGT GGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCA CTTCCCGGATGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC ATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGTAG GGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCAGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGC GGGAGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGACTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCA CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC TCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0212 a0001c0002t0001g0212	1	250	0.0040	782	c.328 others(801): Show c.328-29521_328-29520insCCACCTCCCTCCCGGACGGGGCAGCT GGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGC GCCCCTCACTTCCCGGATGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTT CCCAGTAGGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCA GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCT GGCCGGGCGGGAGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGAC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCCACCTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTG ACCCCC	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	16980138	G G	GGGGGGGC others(775): Show GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGT GGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCA CTTCCCGGATGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCCCACCT CCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGTA GGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCAGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGG CGGGAGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGACTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC ACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0048	1	250	0.0040	782	c.328 others(801): Show c.328-29521_328-29520insCCACCTCCCTCCCGGACGGGGCAGCT GGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGC GCCCCTCACTTCCCGGATGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACT TCCCAGTAGGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGC AGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGC TGGCCGGGCGGGAGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGA CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTG ACCCCC	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	16980138	G G	GGGGGGGC others(775): Show GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGT GGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTC ACTTCCCGGATGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCCCACC TCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGT AGGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCAGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGG GCGGGAGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGACTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC ACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0060	1	250	0.0040	782	c.328 others(801): Show c.328-29521_328-29520insCCACCTCCCTCCCGGACGGGGCAGCT GGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCGGGCGGGGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGG CGCCCCTCACTTCCCGGATGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCAC TTCCCAGTAGGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGG CAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGG CTGGCCGGGCGGGAGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGA CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTG ACCCCC	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLEKHN1_chr1_961482_980865	977065	C C	CAACCCCG others(775): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGA ACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCAC CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAAC CGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG03490.hp2 HG02300.hp1 HG03490.hp2	a0001 a0003 a0001 a0003	a0001c0033 a0003c0003 a0001c0033 a0003c0003	a0001c0033t0001 a0003c0003t0001 a0001c0033t0001 a0003c0003t0001	a0001c0033t0001g0001 a0003c0003t0001g0010 a0001c0033t0001g0001 a0003c0003t0001g0010	2	422	0.0047	782	c.24 others(793): Show c.2490_*2491insAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACC GCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGC CTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCG CCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1201		chr1	TogoVar

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Search Results (Total: 8931 hits)