Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(545): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTAATATATAAAATAAATATTTATTTTAATATTAAAATAAAT ATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATAT TTTTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAATATTTT ATT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0269	1	402	0.0025	552	c.80- others(567): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATTAAAATAAATATTT ATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATATTTTT TTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TTAAAATAAATATTTATTTTATTTATTTTAATATATAAAATATTTTATTT ATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(545): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATATTTT ATT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	402	0.0025	552	c.80- others(567): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAA ATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAA ATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATTAA AATAAATATTTATTTTATTTATTTATTTTAATATATAAAATATTTTATTT ATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(545): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATATTTT ATT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0066 a0001c0001t0001g0067	2	402	0.0050	552	c.80- others(567): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATATTTATTTTAATATATAAAATATTTATTTTAATATATAAA ATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAA ATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAA ATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAA ATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATTAA AATAAATATTTATTTTATTTATTTATTTTAATATATAAAATATTTTATTT ATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45500731	G G	GGTGTGTG others(545): Show GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGG GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTCGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATTGGTG TGT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0068 a0003c0010t0002g0068	1	292	0.0034	552	c.268 others(571): Show c.2683+3076_2683+3077insGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG TGTGTTGGGTGTGTAGTGTGGGGGTGTCGTTTGGTGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTTGGGGGTGTGGTTTGGTGTGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTAT GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGATTGGTGTGTGTGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(545): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATATATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATCAGATATATATATCA TATATATCATATATATCATTTGTATCATATATATATCATATATATCATAT GTATCATATATATCATGTATATATCATATATATCATATATATCATATATG TATTCATATATATCATATATATTCATATATCATATATATTCATATATATC ATATATTCATATATATCATATATATTCATATATATCATATATTCATATAT ATCATATATATTCATATATATATCATATATATTCATATATATATCATATA TATTCATATATATATCATATATATTCATATATATATCATATATATTCATA TATATATCATATATATTCATATATATATCATATATATTCATATATATATC ATA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0017 a0001c0007t0017	a0001c0007t0017g0093 a0001c0007t0017g0093	1	182	0.0055	552	c.267 others(569): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATATATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATCAGATATATATATCATA TATATCATATATATCATTTGTATCATATATATATCATATATATCATATGT ATCATATATATCATGTATATATCATATATATCATATATATCATATATGTA TTCATATATATCATATATATTCATATATCATATATATTCATATATATCAT ATATTCATATATATCATATATATTCATATATATCATATATTCATATATAT CATATATATTCATATATATATCATATATATTCATATATATATCATATATA TTCATATATATATCATATATATTCATATATATATCATATATATTCATATA TATATCATATATATTCATATATATATCATATATATTCATATATATATCAT ATATATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255668	C C	CAGGAAGG others(545): Show CAGGAAGGGAGGGGGCAGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGAAAGGCAGGA AGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAA GGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA GGGGAAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAGGGG GAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGCAGGCAGGAAG GGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAG GCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA GGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCA GGAAGGGAGGGGCAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0076 a0001c0006t0003g0076	1	344	0.0029	552	c.85- others(569): Show c.85-12935_85-12934insTCCCCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTTGCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCT GCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT GCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCTCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGC CTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCTCCTCCC TTCCTGCCTGCCCCCTCCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355841	G G	GTGGGGGA others(545): Show GTGGGGGAGGGCTGCACTAGCTCACCTGTGTGGGGGGAGGGCTGTACCAG CTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGGGGGG GGGAGGGCTGCAGTAGCTCACCTGTGTGTGGGGGGGAGGGCTGTACTAGC TCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGG GGAGGGCTGCACTAGCTCACCTGTGTGAGTGGGGAGGGCTGCAGTAGCTC ACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGGGGGGAGG GCTGTACCAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCT GTGTGGGGGGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGGGGGGGAGGG CTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTG TGTGAGTGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGTGGGGGAGGGCT GCACTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTG TGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0039 a0003c0039	a0003c0039t0008 a0003c0039t0008	a0003c0039t0008g0027 a0003c0039t0008g0027	1	372	0.0027	552	c.100 others(569): Show c.100-1631_100-1630insTGGGGGAGGGCTGCACTAGCTCACCTGT GTGGGGGGAGGGCTGTACCAGCTCACCTGTGTGTGTGGGGGAGGGCTGCA CTAGCTCACCTGTGTGGGGGGGGGAGGGCTGCAGTAGCTCACCTGTGTGT GGGGGGGAGGGCTGTACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCAC TAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGAG TGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTA GCTCACCTGTGTGGGGGGAGGGCTGTACCAGCTCACCTGTGTGTGTGGGG GAGGGCTGCACTAGCTCACCTGTGTGGGGGGGGGAGGGCTGCAGTAGCTC ACCTGTGTGTGGGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGG AGGGCTGCACTAGCTCACCTGTGTGAGTGGGGAGGGCTGCAGTAGCTCAC CTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGGGGGTGGA GGGCTGTACAGCTCACCTGTGTGA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385530	C C	CGTGGATA others(545): Show CGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTGTG TGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGCGTGTGGA TAGGCCGTGGTTACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATG GGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGG CCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCC GTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGT GGTTACAGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGG TTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTT ACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTGC AGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAG TGT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0007 a0001c0016t0007	a0001c0016t0007g0235 a0001c0016t0007g0235	1	372	0.0027	552	c.180 others(571): Show c.180+27986_180+27987insACTGTGGTTACAGTGTCTGGATAGAC CGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCG TGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTG GTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTCGATGGGCCGTGGT CACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCA CAGCGTGTGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACA GTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGT GCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGT GTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGT GGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGG ATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGAT AGGCCGTGGCTGCAGTGTGTGGATAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385705	A A	AGGCCGTG others(545): Show AGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAG GCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGAC CGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTG GTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGT TACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTA CAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACA GTGTGTGGATGGGCCGTGGCTGCAGTGTGTGGATGGGCCGTGGTTACAGT GTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGT GTGGATGGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTGCAGTGTGT GGATGGGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAGCGTGTGG ATG	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0006 a0006	a0006c0033 a0006c0033	a0006c0033t0012 a0006c0033t0012	a0006c0033t0012g0336 a0006c0033t0012g0336	1	372	0.0027	552	c.180 others(571): Show c.180+28176_180+28177insGGACCGTGGTTACAGTGTGTGGATAG GCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGAC CGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTG GTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGT TACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTA CAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACA GTGTGTGGATGGGCCGTGGCTGCAGTGTGTGGATGGGCCGTGGTTACAGT GTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGT GTGGATGGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTGCAGTGTGT GGATGGGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAGCGTGTGG ATGGGCCGTGGTTACAGTGTGTGGAT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385709	C C	CGTGGTTG others(545): Show CGTGGTTGCAGTGTGTGGATAGACCGTGGTTGCAGTGTGTGGATAGGCCG TGGCTGCAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTG GTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACTGTGGT TACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGCTG CAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACA GTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTGCAGT GTGTGGATGGGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAGCGT GTGGATGGGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAGTGTGT GGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGG ATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGAT AGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAG ACT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0263 a0003c0007t0002g0263	1	372	0.0027	552	c.180 others(571): Show c.180+28163_180+28164insGCAGTGTGTGGATAGACCGTGGTTGC AGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGCTGCAG TGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTG TGTGGATAGACTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTG GATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGCTGCAGTGTGTGGATGGGCCGTGGTTACAGCGTGTGGATG GGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAGCGTGTGGATGGG CCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCC GTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGT GGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGG TTACAGTGTGTGGATAGACTGTGGTT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(545): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGAGGGG AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAG GGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGC TGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTG GGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGG CTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCT CCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCC GGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGG CGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCG GTG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0326 a0001c0003t0001g0326	1	412	0.0024	552	c.630 others(567): Show c.630+179_630+180insAGGGGAGGGGCTGGGCTCCGGCGGAGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCT GGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGG GCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGC TCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTC CGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCG GCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGC GGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGG TGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGA GGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(545): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGG CTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCT CCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCC GGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGG CGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCG GTG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0078 a0001c0004t0001g0078	1	412	0.0024	552	c.630 others(567): Show c.630+179_630+180insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGG GCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGC TCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTC CGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCG GCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGC GGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGG TGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGA GGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(545): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGGGGAG GGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTG GGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGG CTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCT CCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCC GGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGG CGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCG GTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0124 a0001c0004t0001g0124	1	412	0.0024	552	c.630 others(567): Show c.630+179_630+180insGGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGGGGAGG GGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGG GCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGC TCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTC CGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCG GCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGC GGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGG TGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGA GGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
CRLF2_chrX_1185490_1217649	1198339	C C	CCCAGGAA others(545): Show CCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTC CCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCA GGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCAC CTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCC TCCCTCCCACCTAGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGG CAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCT CCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCTAGGAAGGCAGGACAC CCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAA GGCAGGACAGCCTCCCTCCCACCTCCCGGGAAGATAGGACACCCTCCCTC CCACCTCCCGGGAAGACAGGACACCCTCCCTCCCACCTCCCAGGAAGGCA GGACACCCTCCCTCCCACCTCGAAGGCAGGACAGCCTCCCTCCCACCTCC CGG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03834.hp2 HG03831.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0056 a0001c0002t0002g0059 a0001c0001t0001g0056 a0001c0002t0002g0059	2	167	0.0120	552	c.646 others(567): Show c.646+222_646+223insCCGGGAGGTGGGAGGGAGGCTGTCCTGCCT TCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGG TGTCCTGTCTTCCCGGGAGGTGGGAGGGAGGGTGTCCTATCTTCCCGGGA GGTGGGAGGGAGGCTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGC CTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTAGGAGGTGGGAG GGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTC GAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTG TCCTGCCTTCTAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGG AGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCT GGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTC CTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAG GGAGGGTGTCCTGCCTTCCTGG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CTBP1_chr4_1206445_1254130	1240233	T T	TGTGGGGC others(545): Show TGTGGGGCACTCCCGGGTGCTGGGTGAGTGGGAACCGGGTCCCTCGTCGG AACCGCGTGGGGGACTCCCGGGTGCTGGGTGAGTGGGAACCGGGTCCCTC GTCGGAACCGCGTGGGGGACTCCCGGGTGCTGGGTGAGTGGGAACCGGGT CCCTCGTCGGAACCGCCTGGGGGGACTCCCGGGTGCTGGGTGAGTGGGAA CCGGGTCCCTCGTCGGAACCGCGTGGGGCACTCCCGGGTGCTGGGTGAGT GGGACCGGGTCCCTCGTCGGAACCGCCTGGGGGGACTCCCGGGTGCTGGG TGAGTGGGAACCGGGTCCCTCGTCGGAACCGCGTGGGGGACTCCCGGGTG CTGGGTGAGTGGGAACCGGGTCCCTCGTCAGAACCGCGTGGGGGACTCCC GGGTGCTGGGTGAGTGGGAACCGGGTCCCTCGTCGGAACCGCGTGGGGGA CTCCCGGGTGCTGGGTGAGTGGGAACCGGGTCCCTCGTCGGAACCGCCTG GGGGGACTCCCGGGTGCTGGGTGAGTGGGAACCGGGTCCCTCGTCGGAAC CGC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18960.hp2 NA18972.hp1 others(3): Show NA18941.hp2 NA18960.hp2 NA18972.hp1 NA18988.hp1 NA19007.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0222 others(1): Show a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0222 a0001c0001t0002g0228	6	422	0.0142	552	c.7+1 others(565): Show c.7+1091_7+1092insGCGGTTCCGACGAGGGACCCGGTTCCCACTCA CCCAGCACCCGGGAGTCCCCCCAGGCGGTTCCGACGAGGGACCCGGTTCC CACTCACCCAGCACCCGGGAGTCCCCCACGCGGTTCCGACGAGGGACCCG GTTCCCACTCACCCAGCACCCGGGAGTCCCCCACGCGGTTCTGACGAGGG ACCCGGTTCCCACTCACCCAGCACCCGGGAGTCCCCCACGCGGTTCCGAC GAGGGACCCGGTTCCCACTCACCCAGCACCCGGGAGTCCCCCCAGGCGGT TCCGACGAGGGACCCGGTCCCACTCACCCAGCACCCGGGAGTGCCCCACG CGGTTCCGACGAGGGACCCGGTTCCCACTCACCCAGCACCCGGGAGTCCC CCCAGGCGGTTCCGACGAGGGACCCGGTTCCCACTCACCCAGCACCCGGG AGTCCCCCACGCGGTTCCGACGAGGGACCCGGTTCCCACTCACCCAGCAC CCGGGAGTCCCCCACGCGGTTCCGACGAGGGACCCGGTTCCCACTCACCC AGCACCCGGGAGTGCCCCAC	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	2/9			chr4	TogoVar
CTDP1_chr18_79674803_79759503	79691731	G G	GGGGGAGG others(545): Show GGGGGAGGAGTGGACAGCTCCCTGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGAGAAGAGTGGACGGCTCCCAGGGTGGACTCGG GGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	378	0.0027	552	c.315 others(569): Show c.315-3480_315-3479insAGCTCCCTGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGAGAAGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGAC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DECR2_chr16_396885_417482	397733	T T	TGGGGGTG others(545): Show TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGTGGGGGGGCTGAGGGAGTCGGGGGG TGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	367	0.0027	552	c.-42 others(563): Show c.-4231_-4230insGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGG GGTGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGGGGGGGCT GAGGGAGTCGGGGGGTGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4151		chr16	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCCC others(545): Show CCACCCCCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCC CCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCTCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCC ACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCC CCACCCCCACCCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCTCACCCCCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCAC CCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	320	0.0031	552	c.39 others(563): Show c.3990_*3991insAGGGTGGGGGTGAGGGTGGGGGTGCGGGTGCGGG TGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG CGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGGTGGGGGTGGGGGTGCGGG TGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTG CGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG CGGGTGCGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2500		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(545): Show CCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCC CCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCC CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGC ACCCGCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCC CCACCCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTC ACCCCCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCAC CCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	320	0.0031	552	c.39 others(563): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGCGGG TGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGGGGTG GGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGGTGGGGGTGGGGG TGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTG GGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCCC others(545): Show GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCC CCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCCACCCGC ACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCACCC CCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTCACCCGC ACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCACCCGCAC CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0027 a0027	a0027c0035 a0027c0035	a0027c0035t0001 a0027c0035t0001	a0027c0035t0001g0070 a0027c0035t0001g0070	1	320	0.0031	552	c.39 others(563): Show c.3972_*3973insGGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGG TGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG CGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCCC others(545): Show GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCGCACCC CCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCC CCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCCACCCGC ACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCACCC CCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTCACCCGC ACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCACCCGCAC CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0180 a0002c0002t0001g0180	1	320	0.0031	552	c.39 others(563): Show c.3972_*3973insGGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGG TGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG CGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(545): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCC CCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCC ACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCC GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCTC ACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCGCACCCCCAC CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	320	0.0031	552	c.39 others(563): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGG TGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTG GGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(545): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCC GCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCC CCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCCACCCGC ACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCACCC CCACCCCCACCCGCACCCCCACCCTCACCCCCACCCTCACCCGCACCCGC ACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCACCCGCACCCCCAC CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0192	1	320	0.0031	552	c.39 others(563): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG CGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTG GGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTG GGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DOCK8_chr9_209865_470255	400222	A A	ACCACCTC others(545): Show ACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTC CACTATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCA CCACCTCCACCACCACCACCACCTCCACCATCACCACCTCCTTCACCATC ACCACCACCACCACCTCCACTATCACCACCACCACCTCCACCATCACCAC CACCTCCACCACCACCACCATCACCTCCACCATCACCACCACCTCCACCA TCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACC TCCTTCACCATCACCATCACCATCACCACCACCTCCACCATCACCACCAC CACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCA TCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACC TCCTTCACCATCACCATCACCACCACCTCCACTATCACCACCACCTCCAC CATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCA CCT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0112 a0002c0112	a0002c0112t0001 a0002c0112t0001	a0002c0112t0001g0224 a0002c0112t0001g0224	1	256	0.0039	552	c.323 others(569): Show c.3234+983_3234+984insTCCTTCACCATCACCATCACCACCACCT CCACTATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACC ACCACCTCCACCACCACCACCACCTCCACCATCACCACCTCCTTCACCAT CACCACCACCACCACCTCCACTATCACCACCACCACCTCCACCATCACCA CCACCTCCACCACCACCACCATCACCTCCACCATCACCACCACCTCCACC ATCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCAC CTCCTTCACCATCACCATCACCATCACCACCACCTCCACCATCACCACCA CCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACC ATCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCAC CTCCTTCACCATCACCATCACCACCACCTCCACTATCACCACCACCTCCA CCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATC ACCTCCACCTCCACCATCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCA others(545): Show CACCACCACCACCACCACCACCACCACTTCCACCATCACCACCTCCTTCA CCATCACCATCACCACCATCACCACCTCCTTCACCATCACCATCACCACC ACCTCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCAT CACCATCACCATCACCACCACCTCCACCACCACCACCACCACCTCCACCA TCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCACCACC TCCTTCACCACCACCACTTCCACCATCACCACCTCCTTCACCACCACCTC CACCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCACCACCA CCACCTCCACCACCACCACTTCCACCATCACCACCTCCTTCACCATCACC ATCACCACCACCTCCACTATCACCACCACCTCCACCACCACCACCACCTC CACCACCACCCTCACCACCTTCTCCACCACCACCATCTTCACCATCACCA CCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCC AAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0052 a0052	a0052c0136 a0052c0136	a0052c0136t0001 a0052c0136t0001	a0052c0136t0001g0155 a0052c0136t0001g0155	1	256	0.0039	552	c.323 others(571): Show c.3234+1717_3234+1718insCCACCACCACCACCACCACCACCACT TCCACCATCACCACCTCCTTCACCATCACCATCACCACCATCACCACCTC CTTCACCATCACCATCACCACCACCTCCACCATCACCACCACCACCTCCA CCATCACCACCTCCTTCACCATCACCATCACCATCACCACCACCTCCACC ACCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCAC CACCACCTCCACCATCACCACCTCCTTCACCACCACCACTTCCACCATCA CCACCTCCTTCACCACCACCTCCACCACCACCTCCACCACCACCTCCACC ACCACCACCTCCACCACCACCACCACCTCCACCACCACCACTTCCACCAT CACCACCTCCTTCACCATCACCATCACCACCACCTCCACTATCACCACCA CCTCCACCACCACCACCACCTCCACCACCACCCTCACCACCTTCTCCACC ACCACCATCTTCACCATCACCACCATCGCCCTGCCCACCTCTAGCAATAT TATCACCTTTCCTATCACCTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(545): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGGAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGGAGGGAAGGGA TGGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGA GGGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGG AGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAG GGAGGGGAGGAGGGGAAGGGAGGGAAGGTAGGAAGGAGGGAAGGAAGAGG AAGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAAGGAGGA AAGGAGGAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGA GGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGG AGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGA GGG	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	290	0.0035	552	c.757 others(569): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT TCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTCCTTTCCCTCCTTCCCT CCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCTACCT TCCCTCCCTTCCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTC CCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCC CTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCC TCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCCTCCCTCCCTTC CCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTCCCCTCCCTC CATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTT CCCTCCCTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EIPR1_chr2_3183970_3382818	3315172	C C	CCCCCTAC others(545): Show CCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCA CCATCACCACCATCCCCATCCACAGCCCCTACCACCATCCTCACCACCAT CCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACAGC CCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACC ATCACCACCATCCCCATACACACCCCCTACCACCATCCTCACCACCATCC CCATACACACCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCC CTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCAC CACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATC CACAGCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACC ACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCATCCTCACCA CCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCA CAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02896.hp1 HG02109.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0009 a0001c0001t0004g0008 a0001c0001t0001g0009 a0001c0001t0004g0008	2	250	0.0080	552	c.259 others(571): Show c.259+22844_259+22845insCTGTGGATGGGGATGGTGGTGATGGT GGTGGTAGGGGCTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGCT GTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATG GTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGG TGGTAGGGGGTGTGGATGGGGATGGTGGTGGTGGTGGTAGGGGGTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGAGGATGGTGGTA GGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGG GGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGG GATGGTGGTGATGGTGGTGGTAGGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3316029	C C	CACCATCC others(545): Show CACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCCTACCACC ACCATCACCACCATCCCCATACACACCCCCTACCACCACCATCACCACCA TCCCCATACACACCCCCTACCACCATCCTCACCACCATCCCCATCCACAC CCCCTACCACCACCATCACCACCATCCCCATACACACCCCCTACCACCAC CATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATC CCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATACACACCC CCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01123.hp1 HG00741.hp2 HG01109.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0065 a0001c0001t0003g0198 a0001c0001t0003g0218 a0001c0001t0001g0065 a0001c0001t0003g0198 a0001c0001t0003g0218	3	250	0.0120	552	c.259 others(571): Show c.259+21987_259+21988insAGGGGGTGTGTATGGGGATGGTGGTG ATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAG GGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGG GGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAG GATGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGG GGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGG ATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGG TGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGG TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTG GTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTG TGGATGGGGATGGTGGTGAGGATGGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EML1_chr14_99788413_99947060	99923639	C C	CGTTGAAT others(545): Show CGTTGAATTATCAATGACACTTTTGTCAAAAACCAATCGATCAGAAATGT AAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACT TTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACT CAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAACCAATCGATC AGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCA ATGACACTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTC CGGATACTCAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATC AATCGATCAGAAATGTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTG AATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGG TTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACTTTTGT CAAAAACCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACTCAGTT CTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0116 a0001c0003t0002g0116	1	288	0.0035	552	c.190 others(571): Show c.1909+2762_1909+2763insGTTGAATTATCAATGACACTTTTGTC AAAAACCAATCGATCAGAAATGTAAAGGTTTATTTCCGGATACTCAGTTC TGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAAC GTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACA CTTTTGTCAAAAACCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATA CTCAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGA TCAGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTAT CAATGACACTTTTGTCAAAAATCAATCGATCAGAAATGTAAAGGTTTATT TCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAA TCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTGCGT TGAATTATCAATGACACTTTTGTCAAAAACCAATCGATCAGAAACGTAAA GGTTTATTTCCGGATACTCAGTTCTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
EML1_chr14_99788413_99947060	99923639	C C	CGTTGAAT others(545): Show CGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAACGT AAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACT TTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACT CAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATC AGAAATGTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCA ATGACACTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTC CGGATACTCAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATC AATCGATCAGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTG AATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAATGTAAAGG TTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACTTTTGT CAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACTCAGTT CTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0014 a0001c0003t0007g0014	1	288	0.0035	552	c.190 others(571): Show c.1909+2762_1909+2763insGTTGAATTATCAATGACACTTTTGTC AAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACTCAGTTC TGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAAC GTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACA CTTTTGTCAAAAATCAATCGATCAGAAATGTAAAGGTTTATTTCCGGATA CTCAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGA TCAGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTAT CAATGACACTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATT TCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAA TCAATCGATCAGAAATGTAAAGGTTTATTTCCGGATACTCAGTTCTGCGT TGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAACGTAAA GGTTTATTTCCGGATACTCAGTTCTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
ERICH1_chr8_659200_736224	676116	T T	TGAGGACA others(545): Show TGAGGACAGAGACGCGGCGCCCCCCTCGGCGAGGACAGAGACGCGGCGCC CCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGC GGCGGCCCCTCGGCGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGA GACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAG GACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTC GGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGA CGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGAC AGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGA GGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTC GGC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0299 a0001c0003t0002g0299	1	378	0.0027	552	c.305 others(569): Show c.305-2070_305-2069insGCCGAGGGGCCGCCGCGTCTCTGTCCTC ACGAGGGGCCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCGTCTCTGT CCTCACGAGGGGCCGCCGCGCCTCTGTCCTCACGAGGGGCCGCCGCGTCT CTGTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCG CGCCTCTGTCCTCACGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGG CGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCGCCTCTGTCCTCACGAG GGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTC GCCGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGGCGCCGCGTCTCT GTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCG CCTCTGTCCTCGCCGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGCC GCCGCGTCTCTGTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTCGCCGA GGGGGGCGCCGCGTCTCTGTCCTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
EXOC6_chr10_92843520_93064490	92948070	A A	ATTGTACC others(545): Show ATTGTACCTGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGTAGTAGCCA ATACAGTAATTTCATTTTTATTTATTTTTATTTTTTTTTTAATTTTTTTT TTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTT ACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCA TCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACC CCACCACAGTCCCCAGAGTGTGGTATTCCCCTTCCTGTGTCCATGTGATC TCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTT TGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGT CCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCA TGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACAT TTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACAT ACG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp1 HG02717.hp1 HG02451.hp2 HG02615.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0278 a0001c0001t0006g0279 a0001c0001t0006g0280 a0001c0001t0006g0278 a0001c0001t0006g0279 a0001c0001t0006g0280	3	288	0.0104	552	c.131 others(569): Show c.1311-189_1311-188insTTTTTTTTTTTTTTTTTTTTTTTTGTAG TAGCCAATACAGTAATTTCATTTTTATTTATTTTTATTTTTTTTTTAATT TTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGG TTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAAC GTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCC CCGACCCCACCACAGTCCCCAGAGTGTGGTATTCCCCTTCCTGTGTCCAT GTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTG GTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCAT CCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGT ATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTT GGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAAT AAACATACGTTGTACCTGGATTTT	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
FHIT_chr3_59742277_61256452	59986789	T T	TATTTATA others(545): Show TATTTATATAAATATATAAATATATATATATAAATATATTTATATAAATA TATAAATATATAAATATAAATATATTTATATAAATATATAAATATAAATA TATTTATATAAATATATAAATATAAATATATAAATATAAATATATAAATA TAAATATATAAATATAAATATATTTATATAAATATATAAATATAAATATA TTTATATAAATATATAAATATAAATATATTTATATAAATATATAAATATA AATATATTTATATAAATATATAAATATATAAATATAAATATATTTATATA AATATATAAATATAAATATATTTATATAAATATATAAATATAAATATATT TATATAAATATATAAATATAAATATATTTATATAAATATATAAATATATA AATATAAATATATTTATATAAATATATAAATATATAATATAAATATATTT ATATAAATATATAAATATATAATATAAATATATTTATATTATATATTTAT ATAAATATATTTATATAAATATATAAATATAAATATATTTATATAAATAT ATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0022 a0001c0001t0012g0022	1	46	0.0217	552	c.279 others(571): Show c.279+24581_279+24582insTATATATTTATATAAATATATTTATA TTTATATATTTATATAAATATATTTATATAAATATATAATATAAATATAT TTATATTATATATTTATATATTTATATAAATATATTTATATTATATATTT ATATATTTATATAAATATATTTATATTTATATATTTATATATTTATATAA ATATATTTATATTTATATATTTATATAAATATATTTATATTTATATATTT ATATAAATATATTTATATTTATATATTTATATAAATATATTTATATTTAT ATATTTATATATTTATATAAATATATTTATATTTATATATTTATATAAAT ATATTTATATTTATATATTTATATAAATATATTTATATTTATATATTTAT ATAAATATATTTATATTTATATATTTATATTTATATATTTATATTTATAT ATTTATATTTATATATTTATATAAATATATTTATATTTATATATTTATAT AAATATATTTATATTTATATATTTATATATTTATATAAATATATTTATAT ATATATATTTATATATTTATATAAAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	7/9			chr3	TogoVar
FLT4_chr5_180596506_180654600	180635057	G G	GATGGATG others(545): Show GATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCA TGGATGGAAGTATGGGTGGGTGGGTGGGTGGATGGATGGATGGAAGTATG GGTGGATGGGTGGGTGGATGGATGGATGGATGGAAGTATGGGTGGAGGGG TGGGTGGATGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTG GGTGAGAGGATGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGG TGGGTGGGTGGATGGATGCATGGAGGGAAGTATGGGTGGATGGGTGGGTG GGTGGGTGGGTGGATGGATGCATGGATGGACGGAAGTATGGGTGGATGGG TGGATGGGTGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGACGGAAG TATGGGTGGATGGGTGGATGGGTGGGTGGGTGGGTGGGTGGATGGATGCA TGGATGGACGGAAGTATGGGTGGATGGGTGGATGGGTGGGTGGGTGGGTG GATGGATGGATGGAAGTATGGGTGGATTGGTGGGTGGGTGGGTGGATGGA TGC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0372 a0001c0001t0002g0372	1	388	0.0026	552	c.59- others(567): Show c.59-3280_59-3279insGCATCCATCCACCCACCCACCCACCAATCC ACCCATACTTCCATCCATCCATCCACCCACCCACCCACCCATCCACCCAT CCACCCATACTTCCGTCCATCCATGCATCCATCCACCCACCCACCCACCC ACCCATCCACCCATCCACCCATACTTCCGTCCATCCATGCATCCATCCAC CCACCCACCCACCCACCCATCCACCCATCCACCCATACTTCCGTCCATCC ATGCATCCATCCACCCACCCACCCACCCACCCATCCACCCATACTTCCCT CCATGCATCCATCCACCCACCCACCCACCCATCCACCCATACTTCCATCC ATCCATGCATCCATCCTCTCACCCACCCACCCATCCACCCATACTTCCAT CCATCCATGCATCCATCCACCCACCCCTCCACCCATACTTCCATCCATCC ATCCATCCACCCACCCATCCACCCATACTTCCATCCATCCATCCACCCAC CCACCCACCCATACTTCCATCCATGCATCCATCCACCCACCCACCCACCC ATCCACCCATACTTCCATCCAT	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FOXP1_chr3_70949708_71588728	71435248	A A	AAGGAAGG others(545): Show AAGGAAGGAAGAGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGACG GAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACG GAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA AGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACG GAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGA GGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0007 a0001c0001t0082g0007	1	96	0.0104	552	c.-16 others(573): Show c.-168+58177_-168+58178insCCCTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTCTCTTCCTTCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GALR1_chr18_77244848_77282900	77252881	T T	TCACCACC others(545): Show TCACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCACCATCACCACCATCACCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACC ATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCATCACCACCATCACCACCATCACCA CCACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCACCATCACCACCATCACCACCA TCACCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCAT CAC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0210 a0001c0002t0017g0210	1	366	0.0027	552	c.666 others(569): Show c.666+1675_666+1676insTCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCATCACCACCATCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCATCAC CACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCATC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCATCACCACCATCACCACCA CCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACC ACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GAS6_chr13_113815549_113869076	113817317	T T	TCCTCCCC others(545): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGAACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAG GGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGG GACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGACA CATACCCCCTCCCTCCAGGGGACACATACCCCCTCCCTCCAGGGGACACA TCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATC CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	143	0.0070	552	c.35 others(563): Show c.3546_*3547insGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGC CCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCC CCTGGAGGGAGGGGGTATGTGTCCCCTGGGGGGAGGGGGGATGTGTCCCG TGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCGAG GAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGG GGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCCCGTGGGGG GAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGAGGAGGGA GGGGGGATGTGTTCCCTGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGG GGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGAGGAGGGAGGGG GGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCGTGGGGGGAGGAGGG ATGTGTCCCGTGGGGGGAGGGGGTATGTGTCCCGTGGGGGGAGGGGGGAT GTGTCCCGTGGGGGGAGG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		3231		chr13	TogoVar
GAS6_chr13_113815549_113869076	113817352	C C	CGGGACAC others(545): Show CGGGACACATACCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACG GGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACAC ATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCTCGGGGCACAT CCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCC CCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCC CCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCC TCCCCCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTC CCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCC CCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTC CAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01099.hp2 HG01070.hp1 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0012 a0001c0001t0001g0014	2	143	0.0140	552	c.35 others(563): Show c.3511_*3512insCTGGAGGGAGGGGGTATGTGTCCCGTGGGGGGAG GGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGG GGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGG TATGTGTCCCCTGGGGGGAGGGGGTATGTGTCCCGTGGGGGGAGGGGGGA TGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATG TGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTG TCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGTATGTGTC CCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCC CTGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGT GGGGGGAGGGGGGATGTGTCCCGAGGAGGGAGGGGGGATGTGTCCCCTGG AGGGAGGGGGTATGTGTCCCGTGGGGGGAGGAGGGATGTGTCCCGTGGGG GGAGGGGGTATGTGTCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		3196		chr13	TogoVar
GAS6_chr13_113815549_113869076	113817352	C C	CGGGACAC others(545): Show CGGGACACATACCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACG GGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACAC ATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCTCGGGGCACAT CCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCC CCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCC CCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCC TCCCCCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTC CCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCC CCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTC CAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG03492.hp1 others(1): Show HG00140.hp2 HG00639.hp2 HG03492.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0102 others(1): Show a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0102 a0001c0001t0001g0104	4	143	0.0280	552	c.35 others(563): Show c.3511_*3512insCTGGAGGGAGGGGGTATGTGTCCCGTGGGGGGAG GGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGG GGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGG TATGTGTCCCCTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGA TGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATG TGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTG TCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGTATGTGTC CCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCC CTGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGT GGGGGGAGGGGGGATGTGTCCCGAGGAGGGAGGGGGGATGTGTCCCCTGG AGGGAGGGGGTATGTGTCCCGTGGGGGGAGGAGGGATGTGTCCCGTGGGG GGAGGGGGTATGTGTCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		3196		chr13	TogoVar
GLOD4_chr17_754330_787280	768444	A A	AAGAGGGA others(545): Show AAGAGGGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAATCTGGAGAGG ACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAATCTGGA GAGGATGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAGAA GTCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGA AGAAGAAATCTGGAGAGGATGTGTGAGAGAGAAACAGCGTGCACTCAGAT TTTTAGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACGGCGCACACTC AGATTTTTAGAAGAAATCTGGAGAGGATGTGTGAGAGAGAAACAGCGCGC ACTCAGATTTTTAGAAGAAATCTGGAGAGGATGTGAGAGAGAGAAACAGG GCGCACTCAGATTTTTAGAAGAAGAAATCTGAAGAGGACGTGAGAGAGAG AAACAGCGCGCGCTCAGATTTTTAGAAGAAGAAATCTGGAGAGGACGTAA GAGAGAGAAACAGCGCGCGCTCAGATTTTTAGAAGAAATCTGGAGAGGAC ATG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02132.hp1 HG03834.hp2 others(3): Show HG02074.hp1 HG02132.hp1 HG03834.hp2 NA18969.hp2 NA18986.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0282 a0001c0001t0001g0284 others(2): Show a0001c0001t0001g0046 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0292 a0001c0001t0001g0295	6	420	0.0143	552	c.831 others(569): Show c.831+1424_831+1425insCATGTCCTCTCCAGATTTCTTCTAAAAA TCTGAGCGCGCGCTGTTTCTCTCTCTTACGTCCTCTCCAGATTTCTTCTT CTAAAAATCTGAGCGCGCGCTGTTTCTCTCTCTCACGTCCTCTTCAGATT TCTTCTTCTAAAAATCTGAGTGCGCCCTGTTTCTCTCTCTCACATCCTCT CCAGATTTCTTCTAAAAATCTGAGTGCGCGCTGTTTCTCTCTCACACATC CTCTCCAGATTTCTTCTAAAAATCTGAGTGTGCGCCGTTTCTCTCTCTCA CGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGCACGCTGTTTCTCTCT CACACATCCTCTCCAGATTTCTTCTTCTAAAAATCTGAGTGCGCGCTGTT TCTCTCTCTCACGTCCTCTCCAGACTTCTTCTTCTAAAAATCTGAGTGCG CGCTGTTTCTCTCTCTCACATCCTCTCCAGATTTCTTCTAAAAATCTGAG TGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATC TGAGTGCGCGCTGTTTCTCCCTCT	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GP6_chr19_55008705_55043264	55033017	C C	CTCGTTCG others(545): Show CTCGTTCGTGTTAGACGTGGAGGGCTCGTTCGTGTTAGACGCGGCGGGCT CGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGTTCG TTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTT CGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGTTCGTTCG TGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTGGTG TTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTT AGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAG ACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGACTCGTTCGTGTTAGAC GCGGTGGATTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGC GGTGGGCTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGG TGGACTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGTG GGT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	441	0.0023	552	c.35- others(565): Show c.35-480_35-479insACCCACCGCGTCTAACACGAACGAACCCACCG CGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGAACCCTCCGCG TCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTC TAACACGAACGAATCCACCGCGTCTAACACGAACGAGTCCACCGCGTCTA ACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGCGTCTAAC ACGAACGAGCCCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACAC GAACGAACCCACCGCGTCTAACACCAACGAGCCCACCGCGTCTAACACGA ACGAGCCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAACACGAAC GAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGA GCCCGCCGCGTCTAACACGAACGAACCCGCCGCGTCTAACACGAACGAGC CCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACACGAACGAGCCC TCCACGTCTAACACGAACGA	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55033052	T T	TAGACGCG others(545): Show TAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTA GACGCGGCGGGTTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGA CGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACG CGGTGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCG GTGGGCTCGTTGGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGT GGGTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGG GCTCGTTGGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGAGGGT TCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGAGGGTTC GTTCGTGTTAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGGTTCGT TCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGTGGACTCGTTC GTGTTGTGTTAGACGCGGTGGACTCGTTCGTGTTAGACACGGTGGACTCG TTC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	441	0.0023	552	c.35- others(565): Show c.35-515_35-514insGAACGAGTCCACCGTGTCTAACACGAACGAGT CCACCGCGTCTAACACAACACGAACGAGTCCACCGCGTCTAACACGAACG AACCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAG TCCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAGCC CACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCA CCGCGTCTAACACCAACGAGCCCACCGCGTCTAACACGAACGAACCCTCC GCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAACCCACCGC GTCTAACACCAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGT CTAACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGCGTCT AACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCGCCGCGTCTAA CACGAACGAACCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACA CGAACGAGCCCGCCGCGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GRAMD4_chr22_46615386_46684785	46635242	C C	CCCGACCC others(545): Show CCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCA CCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCC TGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCCGGC CACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACT CCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTG TCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCCT GGGGAACCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGG AACCGTGTCCTCCCTGCCCCCGCCCCCAGCCACTCCTGTCCTGGGGAACC GTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGT CCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTC CCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTG CCT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	328	0.0031	552	c.163 others(569): Show c.163-2596_163-2595insGACCCCGGCCACTCCTGTCCTGGGGAAC CGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTG TCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCT CCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCT GCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCT CCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCAC CCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCC GGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCCAGCC ACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTC CTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGT CCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTG GGGAACCGTGTCCTCCCTGCCTCC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635342	T T	TGGCCACT others(545): Show TGGCCACTCCTGTCTTGGGGAGCCGTGTCCTCCCTGCCCCCACCCCCAGC CACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCGACCCCGGCCACT CCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTG TCTTGGGGAGCCGTGTCCTCCCTGCCCCCACCCCCAGCCACTCCTGTCCT GGGAGGCCGTGTCCTCCCTGCCCCCGCCCCCAGCCACTCCTGTCCTGGGG AACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACC GTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGT CCTCCCTGCCTCCACCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCCTC CCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTG CCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCC CGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTGCCTGTCCCCGCC CCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	328	0.0031	552	c.163 others(569): Show c.163-2485_163-2484insTTGGGGAGCCGTGTCCTCCCTGCCCCCA CCCCCAGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCGACCC CGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGC CACTCCTGTCTTGGGGAGCCGTGTCCTCCCTGCCCCCACCCCCAGCCACT CCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCGCCCCCAGCCACTCCTG TCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCT GGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGG AACCGTGTCCTCCCTGCCTCCACCCCCGGCCACTCCTGTCCTGGGGGACC GTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGT CCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTC CCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTGCCTG TCCCCGCCCCCGGCCACTCCTGTC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GREB1_chr2_11529045_11647788	11637073	G G	GGGGCAGG others(545): Show GGGGCAGGGGCAGAGGCAGGGACATGGGCAGAGGCAGGGGCAGAGGCAGG GACATGGGCAGAGGCACAGGCAGGGGCATGGACAGGGACTTGGGCAGGGG CAGAGGCAGGGGCAGGGACAGAGGCAGGGGCACAGGCAAGGGCAGGGGCA GGGGCAGAGGCAGAGGCAGGGACAGAGGCAGGGACAGGGACATGGGCAGA GGCAGGGACAGAGGCAGGGGCAGAGGCAGAGGCAGGGACAGAGGCAGGGG CAGAGGCAGGGGCAGGGACATGGGCAGGGACAGAGGCAGAGGCAGGGACA TAGGCAGGGACAGAGGCAGGGGCAGGGACATGAGCAGGGACAGAGGCAGG CGCAGGGACATGGGCAGGGACAGAGGTAGGGGCAGGGACATGGGCAGGGA CAGAGGCAGGGGCACGGGCAGGGGCATGGGCAGGGGCAGGGACAGAGGCA GGCGCAGGGACATGGGCACGGGCAGGGACAGAGGCAGGGGCAGGGACATG GGCAGGGGCAGAGGCAGGGGCAGGGACATGGGCAGGGACAGAGGCAGGAG CAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02922.hp2 HG03453.hp2 others(2): Show HG01070.hp2 HG02922.hp2 HG03453.hp2 HG03516.hp2 NA19030.hp1	a0014 a0032 a0039 a0014 a0032 a0039	a0014c0023 a0032c0048 a0039c0074 a0014c0023 a0032c0048 a0039c0074	a0014c0023t0014 a0032c0048t0014 a0039c0074t0014 a0014c0023t0014 a0032c0048t0014 a0039c0074t0014	a0014c0023t0014g0068 a0014c0023t0014g0071 a0014c0023t0014g0073 others(2): Show a0014c0023t0014g0068 a0014c0023t0014g0071 a0014c0023t0014g0073 a0032c0048t0014g0008 a0039c0074t0014g0301	5	308	0.0162	552	c.534 others(569): Show c.5347-623_5347-622insACATGGGCAGAGGCAGGGGCAGAGGCAG GGACATGGGCAGAGGCACAGGCAGGGGCATGGACAGGGACTTGGGCAGGG GCAGAGGCAGGGGCAGGGACAGAGGCAGGGGCACAGGCAAGGGCAGGGGC AGGGGCAGAGGCAGAGGCAGGGACAGAGGCAGGGACAGGGACATGGGCAG AGGCAGGGACAGAGGCAGGGGCAGAGGCAGAGGCAGGGACAGAGGCAGGG GCAGAGGCAGGGGCAGGGACATGGGCAGGGACAGAGGCAGAGGCAGGGAC ATAGGCAGGGACAGAGGCAGGGGCAGGGACATGAGCAGGGACAGAGGCAG GCGCAGGGACATGGGCAGGGACAGAGGTAGGGGCAGGGACATGGGCAGGG ACAGAGGCAGGGGCACGGGCAGGGGCATGGGCAGGGGCAGGGACAGAGGC AGGCGCAGGGACATGGGCACGGGCAGGGACAGAGGCAGGGGCAGGGACAT GGGCAGGGGCAGAGGCAGGGGCAGGGACATGGGCAGGGACAGAGGCAGGA GCACGGGCAGGGGCAGAGGCAGGG	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	30/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAUS2_chr15_42543838_42574994	42557454	A A	ATACATTG others(545): Show ATACATTGTATATAATGTATATTATATGTAATATACATTGTATATAATGT ATATTATATATAATATACATTATATAATGTATATTACATATAATATACAT TATATATAATGTATATTACATATAATATACATTATATATAATGTGTATTA CATATAATATACATTATATATAATGTGTATATTACATATAATATACATTA TATATAATGTGTATATTACATGTAATATACATTATATATAATGTGTATAT TATATGTAATATATACATTATATATAATGTGTATATTATATGTAATATAT ACATTATATATAATGTGTATATTATATGTAATATATACATTATATATAAT GTATATTATATGTAATATATACATTATATATAATGTATATTATATGTAAT ATATACATTATATATAATGTATATTATATGTAATATATACATTATATATA ATGTATATTATATGTAATATATACATTATATATAATGTATATTATATGTA ATATATACATTATATATAATGTATATTATATGTAATATATACATTATATA ATG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0143 a0001c0001t0027g0143	1	350	0.0029	552	c.94- others(565): Show c.94-742_94-741insCATTGTATATAATGTATATTATATGTAATATA CATTGTATATAATGTATATTATATATAATATACATTATATAATGTATATT ACATATAATATACATTATATATAATGTATATTACATATAATATACATTAT ATATAATGTGTATTACATATAATATACATTATATATAATGTGTATATTAC ATATAATATACATTATATATAATGTGTATATTACATGTAATATACATTAT ATATAATGTGTATATTATATGTAATATATACATTATATATAATGTGTATA TTATATGTAATATATACATTATATATAATGTGTATATTATATGTAATATA TACATTATATATAATGTATATTATATGTAATATATACATTATATATAATG TATATTATATGTAATATATACATTATATATAATGTATATTATATGTAATA TATACATTATATATAATGTATATTATATGTAATATATACATTATATATAA TGTATATTATATGTAATATATACATTATATATAATGTATATTATATGTAA TATATACATTATATAATGTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
HELZ2_chr20_63553086_63579239	63566559	G G	GCAGTGAG others(545): Show GCAGTGAGGACTGGGCCACCCCCGACAAGGAGAGGGCACCCCCACCAAGC TCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGA GACGGCACCCCCACCAAGCTCGGGGATGAACGCAGGACGCAGTGAGGACT GGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGC GCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCC ACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCG ACAAGGAGAGGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGT GAGGACTGGGCCACCCCCGACAAGGAGAGGGCACCCCCACCAAGCTCGGG GATGAACGCAGGACGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGG CACCCCCACCAAGCTCGGGGATGAGCGCAGGGCGCAGTGAGGACTGGGCC ACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGG ACT	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18747.hp2 HG03927.hp1 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0011 a0002c0002t0006 a0002c0002t0011	a0002c0002t0006g0325 a0002c0002t0011g0275 a0002c0002t0006g0325 a0002c0002t0011g0275	2	390	0.0051	552	c.251 others(569): Show c.2515-107_2515-106insAGTCCTGCGCTCATCCCCGAGCTTGGTG GGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGCCCTGCG CTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCA GTCCTCACTGCGTCCTGCGTTCATCCCCGAGCTTGGTGGGGGTGCCCTCT CCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAG CTTGGTGGGGGTGCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGAG TCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGG TGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGT GCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCAT CCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCT CACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCCTCTCCTTG TCGGGGGTGGCCCAGTCCTCACTG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406311	T T	TTGTCACT others(545): Show TTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCT CAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGT CTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTA GTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGA CATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGT TTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGT GTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0052 a0001c0001t0108g0052	1	276	0.0036	552	c.52 others(561): Show c.522_*523insCACACTGAAGGCCTGAGGAAGACGAGATGTCACAGA GGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGT CACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACG AGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGG AAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGC CTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACATT GAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACACACA CTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAA CACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGT GACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCA CTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGA GGTCCACTCAGTGACA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	522		chr2	TogoVar
KANK1_chr9_499695_751103	514167	T T	TCTCCCTC others(545): Show TCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCC TCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTC TCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTT CCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCC TCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTT CCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCC TTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTTCCTCCCTCCCTC CCTCCCTCCCTCTCTTCCTCCCTCTCTTCCTCCCTCTCTCCCTCCTTCTC TCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTC CCTTCCTCTCTCCCTCCCTCCCTTCCTTCCTCCCTTCCTCTCTCCCTCCC TCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0006 a0006	a0006c0041 a0006c0041	a0006c0041t0007 a0006c0041t0007	a0006c0041t0007g0231 a0006c0041t0007g0231	1	254	0.0039	552	c.-84 others(569): Show c.-84+9423_-84+9424insCCCTCCCTCCCTCCCTTCCTCTCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCC CTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCT CCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCT CCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCC CTCCCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTTC CTCCCTCCCTCCCTCCCTCCCTCTCTTCCTCCCTCTCTTCCTCCCTCTCT CCCTCCTTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTTCCTCCCTTCCT CTCTCCCTCCCTCCCTCCCTCCCT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(545): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCC ACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCC CCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCC GCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACA GCT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0045 a0007c0014t0001g0045	1	312	0.0032	552	c.-41 others(567): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCA CCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGC CACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACA GCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCA CAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCC CACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGC CCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGC CGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCAC AGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar

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Search Results (Total: 10000 hits)