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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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
ABCB11_chr2_168915781_169036324	168975373	A A	AAATATTT others(793): Show AAATATTTATATATTTATAGATAAATATATATATATAAATATTTATATAT TTATAGATAAATATATAAATATATATATATATATTTATAGATAAATATAT AAATATATATATATTTATATATTTATAGATAAATATATAAATATATAAAT ATTTATAGATAAATATATAAATATATAAATATTTATATATTTATAGATAA ATATATAAATATTTATATATTTATCTATAAATATATAAATATTTATATAT TTATAGATAAATATATAAATATTTATATATTTATAGATAAATATATAAAT ATTTATATATTTATAGATAAATATATAAATATATAAATATTTTTATATTT ATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT TTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAAT ATATCAATATATAAATATTTTTATATTTATAGATAAATATATCAATATAT AAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTAT ATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAA ATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATAT TTATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTAT ATTTATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTT ATATTTATAGATAAATATATCAATATTTTTATATTTATAGATAAATATAT C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0293 a0001c0007t0001g0297 a0001c0007t0001g0293 a0001c0007t0001g0297	2	306	0.0065	800	c.130 others(819): Show c.1308+1203_1308+1204insGATATATTTATCTATAAATATAAAAA TATTGATATATTTATCTATAAATATAAAAATATTTATATATTTATAAATA TAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAA TATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATC TATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTA TATATTGATATATTTATCTATAAATATAAAAATATTTATATATTGATATA TTTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAA TATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATT TATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATA TAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTA TATATTTATCTATAAATATATAAATATTTATATATTTATCTATAAATATA TAAATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATA GATAAATATATAAATATTTATATATTTATCTATAAATATATAAATATTTA TATATTTATATATTTATCTATAAATATTTATATATTTATATATTTATCTA TAAATATATAAATATATATATATTTATATATTTATCTATAAATATATATA TATATATTTATATATTTATCTATAAATATATAAATATTTATATATATATA TTTATCTATAAATATATAAATATT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACAP3_chr1_1287391_1312930	1289747	C C	CCGTGTCC others(793): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	295	0.0034	800	c.38 others(811): Show c.3816_*3817insACGGAGCAGGGACACGGGACGGGGCAGAGACACG GGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGG GACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAG CAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGG AGCAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACTCGGGGGACGGAGCAGAGACACGGGACGGAGCAGGGA CACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCA GGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGG ACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACA CGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGG CAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGG ACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2643		chr1	TogoVar
AFF2_chrX_148495617_149005663	148581275	T T	TACGTATA others(793): Show TACGTATACGTATACACACATATACGTATACGTATACACACATATACACG TATACGTATACACACATATACACGTATACGTATACACACATATACACGTA TACGTATACACACATATACACGTATACGTATACGTGTACACACATATACA CGTATATACGTATACGTGTACACACATATACACGTATATACGTATACGTG TACACACATATACACGTATATACGTATACGTGTACACACATATATATACA CGTATATATACGTATACGTGTACACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATACGTATACGTG TACACACACACACGTATATACGTATACGTGTACACACACATACACGTATA TACGTATACGTGTACACACATATACGTATACGTGTACACACATATACACG TATACGTGTACACACATATACACGTATACGTGTACACACATATACACGTA TACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATA CGTGTACACACATATACACGTATACGTGTACACACATATACACGTATACG TGTACACACATATACACGTATACGTGTACACACATATACACGTATACGTG TACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTA C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0028 a0001c0001t0071g0028	1	169	0.0059	800	c.48- others(817): Show c.48-70722_48-70721insGTATACGTATACACACATATACGTATAC GTATACACACATATACACGTATACGTATACACACATATACACGTATACGT ATACACACATATACACGTATACGTATACACACATATACACGTATACGTAT ACGTGTACACACATATACACGTATATACGTATACGTGTACACACATATAC ACGTATATACGTATACGTGTACACACATATACACGTATATACGTATACGT GTACACACATATATATACACGTATATATACGTATACGTGTACACACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATATACGTATACGTGTACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATACGTATACGTGTACACACACACACGTATATACGTATACGTGT ACACACACATACACGTATATACGTATACGTGTACACACATATACGTATAC GTGTACACACATATACACGTATACGTGTACACACATATACACGTATACGT GTACACACATATACACGTATACGTGTACACACATATACACGTATACGTGT ACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTAC ACACATATACACGTATACGTGTACACACATATACACGTATACGTGTACAC ACATATACACGTATACGTGTACACACATATACACGTATACGTGTACACAC ATATACACGTATACGTGTACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581356	A A	ACATACAC others(793): Show ACATACACGTATATACGTATACGTGTACACACACATACACGTATATACGT ATACGTGTACACACACATACACGTATATACGTATACGTGTACACACACAT ACACACGTATATACGTATACGTGTACACACACACACACACGTATATACGT ATACGTGTACACACACACGTATACACGTATATACGTATACGTGTACACAC ACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGT ACACACACACGTATATACGTATACGTGTACACACACACGTATATACGTAT ACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATAT ACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACAC GTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACAC ACACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGT GTACACACACACACACGTATATACGTATACGTGTACACACACATACACGT ATATACCTATACGTGTACACACATACACGTATATACCTATACGTGTACAC ACATACACGTATACGTGTACACACATATACACGTATACGTGTACACACAT ATACACGTATACGTGTACACACATATACACGTATACGTGTACACACATAT ACACGTATACGTGTACACACATATACACGTATACGTGTACACACATATAC ACGTATACGTGTACACACATATACACGTATACGTGTACACACATATACAC G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0023 a0001c0005t0023	a0001c0005t0023g0129 a0001c0005t0023g0129	1	169	0.0059	800	c.48- others(817): Show c.48-70643_48-70642insCATACACGTATATACGTATACGTGTACA CACACATACACGTATATACGTATACGTGTACACACACATACACGTATATA CGTATACGTGTACACACACATACACACGTATATACGTATACGTGTACACA CACACACACACGTATATACGTATACGTGTACACACACACGTATACACGTA TATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACA CACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTA CACACACACGTATATACGTATACGTGTACACACACACGTATATACGTATA CGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATATA CGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACG TATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACA CACACGTATATACGTATACGTGTACACACACACACACGTATATACGTATA CGTGTACACACACATACACGTATATACCTATACGTGTACACACATACACG TATATACCTATACGTGTACACACATACACGTATACGTGTACACACATATA CACGTATACGTGTACACACATATACACGTATACGTGTACACACATATACA CGTATACGTGTACACACATATACACGTATACGTGTACACACATATACACG TATACGTGTACACACATATACACGTATACGTGTACACACATATACACGTA TACGTGTACACACATATACACG	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20			chrX	TogoVar
ARSH_chrX_3001546_3039111	3037056	T T	TTATATAT others(793): Show TTATATATAATATTATATATAATATATATATTATATATATAAAATATTAT ATATAATATTATATATAATATATATAATATATATATTATATATAAAATAT ATATAATATATATATTATATATATTATATATAAAATATATATAATATATA TATTATATATATTATATATAAAATATATATAATATATATAATATATATAT TATATATAAAATATATATAATATATATATTATATATAAAATATATATAAT ATATATAATATATATATTATATATAAAATATATATAATATATATATTATA TATAAAATATATATAATATATATAATATATATATTATATATAAAATATAT ATAATATATATATTATATATAAAATATATATAATATATATAATATATATA TTATATAAAATATATATAATATATATAATATATATAAAATATATATAATA TATATAATATATATATTATATATAAAATATATATAATATATATAAAATAT ATATAATATATATAATATATATATTATATATAAAATATATATAATATATA TAATATATATAAAATATATATAATATATATAATATATATAATATATATAA AATATATATAATATATATAATATATATATTATATATAAAATATATATCAT ATATATAATATATATATTATATATAAAATATATATCATATATATAATATA TATATTATATATAAAATATATATCATATATATAATATATATATTATATAT AAAATATATATCATATATATAATATATATATTATATATAAAATATATATA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0157 a0001c0002t0002g0157	1	248	0.0040	800	c.36 others(811): Show c.3671_*3672insTATATATAATATTATATATAATATATATATTATA TATATAAAATATTATATATAATATTATATATAATATATATAATATATATA TTATATATAAAATATATATAATATATATATTATATATATTATATATAAAA TATATATAATATATATATTATATATATTATATATAAAATATATATAATAT ATATAATATATATATTATATATAAAATATATATAATATATATATTATATA TAAAATATATATAATATATATAATATATATATTATATATAAAATATATAT AATATATATATTATATATAAAATATATATAATATATATAATATATATATT ATATATAAAATATATATAATATATATATTATATATAAAATATATATAATA TATATAATATATATATTATATAAAATATATATAATATATATAATATATAT AAAATATATATAATATATATAATATATATATTATATATAAAATATATATA ATATATATAAAATATATATAATATATATAATATATATATTATATATAAAA TATATATAATATATATAATATATATAAAATATATATAATATATATAATAT ATATAATATATATAAAATATATATAATATATATAATATATATATTATATA TAAAATATATATCATATATATAATATATATATTATATATAAAATATATAT CATATATATAATATATATATTATATATAAAATATATATCATATATATAAT ATATATATTATATATAAAATATATATCATATATATAATATATATATTATA TATAAAATATATATAA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2946		chrX	TogoVar
ATP10A_chr15_25673712_25868327	25757973	A A	ACTCATTC others(793): Show ACTCATTCCGACCACCTGCTCCACCCTCATTCCGATCACCTGCTCCACCC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCAC CCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTG CTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTA ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCT ATCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTC ATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCTATCA CCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTC CGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCAC C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	300	0.0033	800	c.655 others(819): Show c.655-21833_655-21832insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGA TCGGAATGAGTTAGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGGAGC AGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGG TGGAGCAGGTGATAGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATAGG AATGAGTTAGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGA GCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAG GGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATAGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGATAGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTG GAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAG GGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
AVEN_chr15_33861227_34044204	33894705	C C	CAGGCTGA others(793): Show CAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTC AGCTGAGATCGCGACACTGCACTCCAGTCCGGGTGACAGAGCGAGACTCC GTCTCCAAAAAAAAAAAAAAGAAAAAAAAAATCATCAAGTCTGTCAAATG CAGTTTTCCCCTATGGGTGGCTCTTCAAGATTCACACTTTAACATAACGC TAAGGTTTGGGTATATTTTATTCTTGACATATATTCCTAAAATTGGAATT ACTGGGTACAGGAATAAAATTTAGTTTGAAACTATTTGTTATGTTACTCT ATAGATCTGCTGAAACATAGATCCAACGTGCAAATTCCATTCATAACATT CTCATCCACTTTTACACAAATGTGTGTTAAATGCCTACTATGTGTCAGAT TAGAAGCTAGTGATACAGAATGTTATCCAAAGTCCCTGCTCTCATGGAAT TACTACTACTTAAATGTCTACTAAAGGGAGAAGAAAATTTAAATGAATCA CCTAGTTCCTGAAAGCCCTATCAATAACTTTTGTATTTACATACACAATT GTATTAAAAGTGTTATTATTTATTAAGTATATTAAGAAGTACAAGCCCTT CTACTTATTAAAATAATAGAATGTGGCCGGGCTTGGTGGCTCACACGTGT AATCCCAGCACTTTGGGAGCCTAAGGCGGGCGGAACACAAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGTGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG G	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	266	0.0038	800	c.446 others(819): Show c.446-18711_446-18710insCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTGCACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGTTCCGCCCGC CTTAGGCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACCAAGCCCGGC CACATTCTATTATTTTAATAAGTAGAAGGGCTTGTACTTCTTAATATACT TAATAAATAATAACACTTTTAATACAATTGTGTATGTAAATACAAAAGTT ATTGATAGGGCTTTCAGGAACTAGGTGATTCATTTAAATTTTCTTCTCCC TTTAGTAGACATTTAAGTAGTAGTAATTCCATGAGAGCAGGGACTTTGGA TAACATTCTGTATCACTAGCTTCTAATCTGACACATAGTAGGCATTTAAC ACACATTTGTGTAAAAGTGGATGAGAATGTTATGAATGGAATTTGCACGT TGGATCTATGTTTCAGCAGATCTATAGAGTAACATAACAAATAGTTTCAA ACTAAATTTTATTCCTGTACCCAGTAATTCCAATTTTAGGAATATATGTC AAGAATAAAATATACCCAAACCTTAGCGTTATGTTAAAGTGTGAATCTTG AAGAGCCACCCATAGGGGAAAACTGCATTTGACAGACTTGATGATTTTTT TTTTCTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTGTCACCCGGACT GGAGTGCAGTGTCGCGATCTCAGCTGACTGCAACCTCCGCCTCCCAGGTT CAAGCAATTCTCCTGCCTCAGCCT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33894705	C C	CAGGCTGA others(793): Show CAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTC AGCTGAGATCGCGACACTGCACTCCAGTCCGGGTGACAGAGTGAGACTCC GTCTCCAAAAAAAAAAAAAAGAAAAAAAAAATCATCAAGTCTGTCAAATG CAGTTTTCCCCTATGGGTGGCTCTTCAAGATTCACACTTTAACATAACGC TAAGGTTTGGGTATATTTTATTCTTGACATATATTCCTAAAATTGGAATT ACTGGGTACAGGAATAAAATTTAGTTTGAAACTATTTGTTATGTTACTCT ATAGATCTGCTGAAACATAGATCCAACGTGCAAATTCCATTCATAACATT CTCATCCACTTTTACACAAATGTGTGTTAAATGCCTACTATGTGTCAGAT TAGAAGCTAGTGATACAGAATGTTATCCAAAGTCCCTGCTCTCATGGAAT TACTACTACTTAAATGTCTACTAAAGGGAGAAGAAAATTTAAATGAATCA CCTAGTTCCTGAAAGCCCTATCAATAACTTTTGTATTTACATACACAATT GTATTAAAAGTGTTATTATTTATTAAGTATATTAAGAAGTACAAGCCCTT CTACTTATTAAAATAATAGAATGTGGCCGGGCTTGGTGGCTCACACGTGT AATCCCAGCACTTTGGGAGCCTAAGGCGGGCGGAACACAAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGTGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02572.hp2 others(9): Show HG02257.hp2 HG02451.hp1 HG02572.hp2 HG02886.hp1 HG03041.hp1 HG03225.hp2 HG03486.hp2 HG06807.hp2 NA18906.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0005 a0001c0001 a0007c0005	a0001c0001t0001 a0001c0001t0006 a0007c0005t0007 a0001c0001t0001 a0001c0001t0006 a0007c0005t0007	a0001c0001t0001g0024 a0001c0001t0001g0125 a0001c0001t0001g0127 others(9): Show a0001c0001t0001g0024 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0200 a0001c0001t0006g0030 a0001c0001t0006g0123 a0001c0001t0006g0126 a0001c0001t0006g0197 a0007c0005t0007g0265	12	266	0.0451	800	c.446 others(819): Show c.446-18711_446-18710insCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTGCACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGTTCCGCCCGC CTTAGGCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACCAAGCCCGGC CACATTCTATTATTTTAATAAGTAGAAGGGCTTGTACTTCTTAATATACT TAATAAATAATAACACTTTTAATACAATTGTGTATGTAAATACAAAAGTT ATTGATAGGGCTTTCAGGAACTAGGTGATTCATTTAAATTTTCTTCTCCC TTTAGTAGACATTTAAGTAGTAGTAATTCCATGAGAGCAGGGACTTTGGA TAACATTCTGTATCACTAGCTTCTAATCTGACACATAGTAGGCATTTAAC ACACATTTGTGTAAAAGTGGATGAGAATGTTATGAATGGAATTTGCACGT TGGATCTATGTTTCAGCAGATCTATAGAGTAACATAACAAATAGTTTCAA ACTAAATTTTATTCCTGTACCCAGTAATTCCAATTTTAGGAATATATGTC AAGAATAAAATATACCCAAACCTTAGCGTTATGTTAAAGTGTGAATCTTG AAGAGCCACCCATAGGGGAAAACTGCATTTGACAGACTTGATGATTTTTT TTTTCTTTTTTTTTTTTTTGGAGACGGAGTCTCACTCTGTCACCCGGACT GGAGTGCAGTGTCGCGATCTCAGCTGACTGCAACCTCCGCCTCCCAGGTT CAAGCAATTCTCCTGCCTCAGCCT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(793): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0055 a0001c0003t0001g0055	1	391	0.0026	800	c.36 others(811): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
BSND_chr1_54993933_55022172	55003060	G G	GAGATGCT others(793): Show GAGATGCTGATGATGAGGATGGTGATGGTGAGAATGGTAATGGTGATGAT AATAGTGATGATGATAATAGTGATAATGATGGTGAGGATGGTGATGGTGA CAATGGTGATGATGATGATGATGATAGTGATGATGATGGTGATTAGGAGA TGGTGATGATGAGGATGGTGATGGTGAGAATGGTAATGGTGATGATAATA GTGATGATGATAATAGTGATAATGATGGTGAGGATGGTGATGGTGACAAT GGTGATGATGATGATGATGATAGTGATGATGATGGTGATTAGGAGATGGT GATGATGAGGATGGTGATGGTGAGAATGGTAATGGTGATGATAATAGTGA TGATGATAATAGTGATAATGATGGTGAGGATGGTGATGGTGACAATGGTG ATGATGATGATGATGATAGTGATGATGATGGTGATTAGGAGATGGTGATG ATGAGGATGGTGATGGTGAGAATGGTAATGGTGATGATAATAGTGATGAT GATGGTGAGGATGGTGATGGTGAAGATGGTGATGATGAGATTGGTGATAG AATGGTGATGGTAATGACGATGTTGATGGTAATGAAGATGTCAATGATGG TGATGTGATGATAATGATGGTAACGGTTATGATGATGGTGATGGTGATAA TGATAATGGTGATGATGATGGTAATGGTCACGATGGTGATAGTGATGATG ATAGTGGTGATAATGATGGTGATGTTGATAATTTTGGTGGTGATAATAGT TATGGTGATGATTGATGGTAATGAGGATGAGGATGATGACGATTATTATT A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0218 a0001c0001t0218	a0001c0001t0218g0073 a0001c0001t0218g0073	1	448	0.0022	800	c.178 others(817): Show c.178-1962_178-1961insAGATGCTGATGATGAGGATGGTGATGGT GAGAATGGTAATGGTGATGATAATAGTGATGATGATAATAGTGATAATGA TGGTGAGGATGGTGATGGTGACAATGGTGATGATGATGATGATGATAGTG ATGATGATGGTGATTAGGAGATGGTGATGATGAGGATGGTGATGGTGAGA ATGGTAATGGTGATGATAATAGTGATGATGATAATAGTGATAATGATGGT GAGGATGGTGATGGTGACAATGGTGATGATGATGATGATGATAGTGATGA TGATGGTGATTAGGAGATGGTGATGATGAGGATGGTGATGGTGAGAATGG TAATGGTGATGATAATAGTGATGATGATAATAGTGATAATGATGGTGAGG ATGGTGATGGTGACAATGGTGATGATGATGATGATGATAGTGATGATGAT GGTGATTAGGAGATGGTGATGATGAGGATGGTGATGGTGAGAATGGTAAT GGTGATGATAATAGTGATGATGATGGTGAGGATGGTGATGGTGAAGATGG TGATGATGAGATTGGTGATAGAATGGTGATGGTAATGACGATGTTGATGG TAATGAAGATGTCAATGATGGTGATGTGATGATAATGATGGTAACGGTTA TGATGATGGTGATGGTGATAATGATAATGGTGATGATGATGGTAATGGTC ACGATGGTGATAGTGATGATGATAGTGGTGATAATGATGGTGATGTTGAT AATTTTGGTGGTGATAATAGTTATGGTGATGATTGATGGTAATGAGGATG AGGATGATGACGATTATTATTA	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding	1/3			chr1	TogoVar
C1orf159_chr1_1076823_1121089	1080916	G G	GGTCCCTG others(793): Show GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTC CCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTG TCTCCTTCCCTCCGCCCCCATCTCTGTCCCTGTCTCCTTCCCTCCGCCCC CACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTC CTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACC TCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTC CCTCCGCCCCCATCTCTGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGG TCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTC CGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCC TGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCC CCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTC TCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCA CCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCT TCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCATCTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	326	0.0031	800	c.19 others(811): Show c.1976_*1977insAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCG AGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAA GGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGG GCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAG GGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGG AGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGAC AGAGATGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGG AAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAG GTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGG AGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACAGAGATGG GGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGAC AGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGC GGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGG ACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAG GGAAGGAGACAGGGAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		906		chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(793): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGG CGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCAT AGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTG CATAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCAG CGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGG CGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTACGTGGG G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0013 a0013	a0013c0084 a0013c0084	a0013c0084t0006 a0013c0084t0006	a0013c0084t0006g0168 a0013c0084t0006g0168	1	338	0.0030	800	c.300 others(817): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGC GGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGC CGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAG GGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGC ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCG TGCATAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTC AGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGAC GGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTA GACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTACGTG GGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCBE1_chr18_59425939_59702423	59473808	C C	CACTATTT others(793): Show CACTATTTCCTCCCCTGCTACTCACCTTCCAACCCTATTTCCTCCCCCAC TACTCACCTTCCAACCCTATTTCCTCCCCCACTACTCACCTTCCAACCCT CCCACTATTTCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTC CCCCCTACTACTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTACTC ACCTTCCAACCTTCCCACTATTTCCTCCCCCTACTACTCACCTTCCAACC CTCCCACTATTTCCTCCCCCTACTACTCACCTTCCAACCCTCCCACTATT TCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTCCCCCCTACT ACTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTACTCACCTTCCAA CCTTCCCACTATTTCCCCCCTACTACTCACCTTCCAACCCTCCCACTATT TCCCCCCGACTACTCACCATCCAACCCTTCCACTATTTCCCCCCCACTAC TCACCATCCAACCCTCCCAGTACTCACCTTCCAACCCTCCCACTATTCCC CCCTACTACTCACCTTCCAACCCTTCCACTATTTCCCCACTACTACTCAC CTTCCAACCCTCCCACTATTTCCTCCCTCCAACTACTCACCTTCCAACCC TCCTACTATTCCCCCGCTACTACTCACCTTCCAACCCTCCCACTATTCCC CCACTACTGCCCACCTTCCAACCCTCCCACTATTCCCCCGCTACTACCTA TCTTCCAACCCTCCCACTATTTCCTCCCACCACTCACCTTCCAACCCTCC T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01261.hp1 HG01515.hp1 others(1): Show HG00099.hp1 HG01261.hp1 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0001t0001 a0001c0001t0004 a0001c0001t0015	a0001c0001t0001g0023 a0001c0001t0004g0119 a0001c0001t0004g0134 others(1): Show a0001c0001t0001g0023 a0001c0001t0004g0119 a0001c0001t0004g0134 a0001c0001t0015g0085	4	242	0.0165	800	c.266 others(817): Show c.266-4202_266-4201insAGGAGGGTTGGAAGGTGAGTGGTGGGAG GAAATAGTGGGAGGGTTGGAAGATAGGTAGTAGCGGGGGAATAGTGGGAG GGTTGGAAGGTGGGCAGTAGTGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTAGTAGCGGGGGAATAGTAGGAGGGTTGGAAGGTGAGTAGTTGGAGGGA GGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGTGGGGAAATAGTGGAA GGGTTGGAAGGTGAGTAGTAGGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTACTGGGAGGGTTGGATGGTGAGTAGTGGGGGGGAAATAGTGGAAGGGT TGGATGGTGAGTAGTCGGGGGGAAATAGTGGGAGGGTTGGAAGGTGAGTA GTAGGGGGGAAATAGTGGGAAGGTTGGAAGGTGAGTAGTCGGGGGGAAAT AGTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGGAAATAGTGGGAAGGTTG GAAGGTGAGTAGTGGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTA GTAGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGAGG AAATAGTGGGAAGGTTGGAAGGTGAGTAGTCGGGGGGAAATAGTGGGAGG GTTGGAAGGTGAGTAGTAGGGGGGAAATAGTGGGAAGGTTGGAAGGTGAG TAGTGGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTGGGGGAG GAAATAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGGGTTGGAAGGT GAGTAGCAGGGGAGGAAATAGT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(793): Show CACTATATATAGTAGTTATATATACTATATATACACTATATATAGTTATA TATACTATATATACACTATATATAGTTATATATACTATATATACTATATA TAGTTATATATACTATATATAACTATATATAGTATATATACTATATATAC ACTATATATAGTAGTTATATATACTATATATACACTATATATAGTATATA TACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTAT ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATACATACTATATATACACTATATATAGTAGTTATACATACTATA TATACACTATATATAGTAGTTATATATACACTATATAGTAGTTATATATA CTACATATACACTATATATAGTAGTTATATATACTATATATACACTATAT ATAGTAGTTATATATACTATATATACACTATATATAGTTTATATATACTA TATATAAACTATATATAGTAGTTATATATACTACTATATATACTACTATA TATAGTATATACTATATATACACTATATATAGTAGTATATATAACTACTA TATATACTACTATATATAGTATATACTATATATACACTATATATACACTA TATATAGCATATATACTATATATACACTATATATAGTAGTTATATATACT ATATATACACTATACATACACTATATATAGTTTATATATACTATATATAG TAGTTATATATACTATATATACTATATATAGTTTATATATATACTATATA T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp1 HG03516.hp1 HG02965.hp2 HG02976.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0024 a0001c0002t0004 a0001c0001t0005 a0001c0001t0024 a0001c0002t0004	a0001c0001t0005g0249 a0001c0001t0024g0255 a0001c0002t0004g0276 a0001c0001t0005g0249 a0001c0001t0024g0255 a0001c0002t0004g0276	3	396	0.0076	800	c.349 others(815): Show c.349+948_349+949insTACTATATATACACTATATATAGTTATATA TACTATATATACACTATATATAGTTATATATACTATATATACTATATATA GTTATATATACTATATATAACTATATATAGTATATATACTATATATACAC TATATATAGTAGTTATATATACTATATATACACTATATATAGTATATATA CACTATATATAGTAGTTATATATACTATATATACACTATATATAGTATAT ATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTA GTTATACATACTATATATACACTATATATAGTAGTTATACATACTATATA TACACTATATATAGTAGTTATATATACACTATATAGTAGTTATATATACT ACATATACACTATATATAGTAGTTATATATACTATATATACACTATATAT AGTAGTTATATATACTATATATACACTATATATAGTTTATATATACTATA TATAAACTATATATAGTAGTTATATATACTACTATATATACTACTATATA TAGTATATACTATATATACACTATATATAGTAGTATATATAACTACTATA TATACTACTATATATAGTATATACTATATATACACTATATATACACTATA TATAGCATATATACTATATATACACTATATATAGTAGTTATATATACTAT ATATACACTATACATACACTATATATAGTTTATATATACTATATATAGTA GTTATATATACTATATATACTATATATAGTTTATATATATACTATATATA CTATATATAGTAGTTATATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDC42BPA_chr1_226984865_227323492	227199277	T T	TGAAAAAC others(793): Show TGAAAAACTCCTGGAGATGCGGAGAAATAGGAACACTTTTACACTGTTGG TGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCT CAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGG GTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACA CGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACC CAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACA CCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTA GGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGA ACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAA TGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGG TGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCT AGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATA TGTAACTAACCTGCACAATGTGCACATGTACCCTGAAACGTAGAGTATAA TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAATAAACATTAAAATAATGCTAATTTAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0161 a0001c0001t0047g0161	1	352	0.0028	800	c.450 others(815): Show c.450+279_450+280insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAATTAGCATTATTTTAATG TTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTATTATACTCTACGTTTCAGGGTACATGTGC ACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCT GCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCC CTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCT TCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAAT ATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGT TTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTA TGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAG TCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAA TAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATT TATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGT ATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGG TTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTC CGCATCTCCAGGAGTTTTTC	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	4/36			chr1	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(793): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0198 a0003c0006t0004g0198	1	334	0.0030	800	c.-25 others(811): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065130	A A	ATAGTATT others(793): Show ATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGT AGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAG TATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTA TTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATT AAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAA GAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGA GGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGG TGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTG ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTG G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0003 a0001c0067t0003	a0001c0067t0003g0042 a0001c0067t0003g0042	1	334	0.0030	800	c.-26 others(811): Show c.-2614_-2613insCCACCTCTTAATACTACCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATACTACC ACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCAC CTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCT CTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCT TAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTA ATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAAT ACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATAC TACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTA CCACCTCTTAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2265		chr11	TogoVar
CDON_chr11_125951821_126067866	126065194	A A	ATAGTATT others(793): Show ATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGT AGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAG TATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0062 a0002c0002t0062	a0002c0002t0062g0111 a0002c0002t0062g0111	1	334	0.0030	800	c.-26 others(811): Show c.-2678_-2677insCCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAAT ACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATAC TACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTA CCACCTCTTAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2329		chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(793): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGA AGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTG AAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAAC ACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGT AGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTG CAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTT TGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATCCTAG AGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAA GTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTT TCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTA TACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTA TGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATAAATT TAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCAT ACTACATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT TTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGG A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	336	0.0030	800	c.248 others(817): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAA GGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAG ATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGA CAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAAT GGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGA GGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCC TTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACT TGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGAT GGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAAT TAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCAT AGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATT TTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGG GCAATACATCCATACTACATATATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTG TCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(793): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGA AGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTG AAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAAC ACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGT AGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTG CAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTT TGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATCCTAG AGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAA GTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTT TCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTA TACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTA TGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATAAATT TAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCAT ACTACATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT TTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGG A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03041.hp1 HG01261.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0136 a0001c0001t0001g0137	2	336	0.0060	800	c.248 others(817): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGGGAGGGAGGGAGG GAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAA GGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAG ATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGA CAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAAT GGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGA GGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCC TTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACT TGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGAT GGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAAT TAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCAT AGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATT TTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGG GCAATACATCCATACTACATATATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTG TCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(793): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGGAGGGAGGAAGGGG CGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAATA AATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTAT AATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTTA ACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGTG AAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGAA GGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAATATCCTAGAGGCA GAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGTG AGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTCA TAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACGT TAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCTA TAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT TTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGG A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0029 a0002c0003t0007g0029	1	336	0.0030	800	c.248 others(817): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGG AGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAA AGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGT TATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAA TTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGA AAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGAC AAGTACTTTGGAAGGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAA TATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTG GACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGT TTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGA AGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATA TATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATATTTTTTTTTTTT TTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTG TCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(793): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGGAGGGAGGAAGGGG CGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAATA AATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTAT AATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTTA ACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGTG AAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGAA GGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAATATCCTAGAGGCA GAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGTG AGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTCA TAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACGT TAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCTA TAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGG A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0143 a0002c0003t0003g0143	1	336	0.0030	800	c.248 others(817): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGG AGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAA AGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGT TATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAA TTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGA AAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGAC AAGTACTTTGGAAGGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAA TATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTG GACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGT TTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGA AGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATA TATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTG TCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP20DC_chr3_58737008_59055025	58786706	T T	TAAGATAT others(793): Show TAAGATATGCCAAAGAGCGACCCCTCTCCAAGAGGGATCACTCACAGGCA CTGGTTATTGGCTGGGAGCTCAGCCTGGATTGAGAGATAGGAACTTCATT CCTCTCCATGTGGGTCTCTTCATGTAGCCCAGGCTTCCTCACTGCACGGT GGCTGGCTGCTGAGGGAAAGTGACTCAAGGACCGTATTGCCTCTTAAGAC CCAGGCTTGGAAGTTATACAGTGTTGTCTATCACGTGTGTCAGTCTAATG ACACACAAATTAAGGGGAAGGGACATAACCCCCACCTCTTGAGGGTGAGT GGCAAAGTTTTGGAAGAGCATGTGGGATGGGATATATTGTTGTAGTTATT TTTGAAAAATACAATTTGCTACGTCAGGTATGACATTTTATTACATTCTT TAAAATGTGACAATTGTCCTTCCCTTTTTAAGTTACAAACAAAAAGTAAA ACTAAAGAAGTATCGTGATTTTCTTTAGGCAAAAATCAGTCAACTAGTTT GAAAGTCATTAGTGAAAATATGGAGAAATATTAATTCCAGATAATCAGGT TAAAATGGAGACCTAGCATTATTTGGCCAATTAATTGACAGAATGTTACA AGATGCCAAAGACTGGTAGCATCAAATACTGTATTCCAGACTATAATAGG CAGTAAACTGGAAACATAATCTGTAATTCTGTAAATTGAATTATTGTTGA ATGAATTAATTTTTCCGTATCTGTAATATTTTTACCTTATGTAATAAAAA CCATAAATCTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0134 a0001c0002t0002g0134	1	204	0.0049	800	c.223 others(821): Show c.2237+19688_2237+19689insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTCCAGATTTATGGTTTTTATTACATAAGGTAAAAAT ATTACAGATACGGAAAAATTAATTCATTCAACAATAATTCAATTTACAGA ATTACAGATTATGTTTCCAGTTTACTGCCTATTATAGTCTGGAATACAGT ATTTGATGCTACCAGTCTTTGGCATCTTGTAACATTCTGTCAATTAATTG GCCAAATAATGCTAGGTCTCCATTTTAACCTGATTATCTGGAATTAATAT TTCTCCATATTTTCACTAATGACTTTCAAACTAGTTGACTGATTTTTGCC TAAAGAAAATCACGATACTTCTTTAGTTTTACTTTTTGTTTGTAACTTAA AAAGGGAAGGACAATTGTCACATTTTAAAGAATGTAATAAAATGTCATAC CTGACGTAGCAAATTGTATTTTTCAAAAATAACTACAACAATATATCCCA TCCCACATGCTCTTCCAAAACTTTGCCACTCACCCTCAAGAGGTGGGGGT TATGTCCCTTCCCCTTAATTTGTGTGTCATTAGACTGACACACGTGATAG ACAACACTGTATAACTTCCAAGCCTGGGTCTTAAGAGGCAATACGGTCCT TGAGTCACTTTCCCTCAGCAGCCAGCCACCGTGCAGTGAGGAAGCCTGGG CTACATGAAGAGACCCACATGGAGAGGAATGAAGTTCCTATCTCTCAATC CAGGCTGAGCTCCCAGCCAATAACCAGTGCCTGTGAGTGATCCCTCTTGG AGAGGGGTCGCTCTTTGGCATATCTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CFAP61_chr20_20047532_20365698	20337562	A A	ATGGATGG others(793): Show ATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGGTGGATGGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGG ATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGT GGATGGATGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAG ATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGAT GGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG G	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18966.hp2 NA18969.hp2 HG00558.hp1 NA18966.hp2 NA18969.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0002c0002t0002 a0001c0001t0002 a0001c0001t0006 a0002c0002t0002	a0001c0001t0002g0194 a0001c0001t0006g0019 a0002c0002t0002g0159 a0001c0001t0002g0194 a0001c0001t0006g0019 a0002c0002t0002g0159	3	236	0.0127	800	c.342 others(819): Show c.3423-4256_3423-4255insAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGATGGATGGAT AGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGG ATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGAT AGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGG ATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGAT AGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGG ATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGAT GGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAG ATGGGTGGGTGGATGGATGGATGGATGGATGGATAGATGGATAGATGGGT GGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGAT GGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGG GTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGAT AGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGG ATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGAT AGATGGGTGGGTGGATGGATGGAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(793): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCCCCCACCCCACCCA CCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACAC CTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCC AGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGT GGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAATTAAAAA AAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTG GTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGG CTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCA TGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGA GATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAA GCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGC CACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAA ACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCG GCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAA ACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCC C	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	410	0.0024	800	c.138 others(819): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCGC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGAT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTT TTGGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCG TAGCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCA GCCTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAAT TTTTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGGGGGGT CTCACTGTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCT CCTGCCTTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(793): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCCCCCACCCCACCCA CCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACAC CTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCC AGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGT GGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAATTAAAAA AAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTG GTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGG CTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCA TGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGA GATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAA GCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGC CACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAA ACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCG GCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAA ACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCC C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	382	0.0026	800	c.65 others(811): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC CCCCCACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGG TGTGGTGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGA GGATCGCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCC ACTGCACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAA AAAAAAAATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATT TTTTTATTTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGG TCTTGAACTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTG CTGGGATTATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATT TATTATCTTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCT AACTCCTGGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGG ATTACAGGTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGA GTAGCTGGATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGG GACCAAACAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGA TTCCATTTATATGAAACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGC TCACACCTGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(793): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCC TCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCC CTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCC CCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCC TCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTC CCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCT CCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTC TCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTC C	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0120 a0001c0003t0032g0120	1	270	0.0037	800	c.162 others(821): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTC TTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCT CCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCC TCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCC TTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTT CCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNST_chr1_246561456_246673595	246642837	G G	GGTGGTGG others(793): Show GGTGGTGGTGATGATGATGATGATGGTGATGATGATGATGATGGTGATGA TGATGGTGATGATGGTGATGATGATGGTGATGATGAGGATGATGATGATG GTGATGATGATGGTGATGGTGATGATGACGGTGATGATGGTGATGGTGAT GATGGTGATGATGAGGATGATGATGGTGATGATGATGATGGTGATGATGA GGATGATGATGGTGATGATGATGATGGTGATGATGGTGATGGTGATGATG GTGATGAGGATGATGATGGTGATGATGATGGTGATGATGATGATGGTGGT GATGGTGATGGTGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGATGATGATGATGGTGATGATGATGGTGGTGATG ATGGTGATGGTGATGGTGATGATGGTGATGATGGTGATGATGATGATGAT GGTGATGATGGTGGTGATGATGATGGTGATGATGGTGATGGTTATGATGG TGATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGGTGATGATA AGGATGATGATGATGAGGATGATGGTGGTGATGATGATGGTGATGACGAT GATGGTGATGATGATGGTGATGACGATGATGGTGATTGTGATGATGGTGA TGACGATGATGAGGATGGTGATGATGGTGATGATGATGGTGAGGATGGTG ATGATGATGGTGATGATGAGGATGGTGATGATGGTGATGATGATGGTGAT TATGATGATGGTGATGATGGTGATGATGATGGTGATGATGATGGTGATGA T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03516.hp1 HG02809.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0167 a0001c0001t0001g0169	2	320	0.0063	800	c.937 others(815): Show c.937+801_937+802insTGGTGGTGATGATGATGATGATGGTGATGA TGATGATGATGGTGATGATGATGGTGATGATGGTGATGATGATGGTGATG ATGAGGATGATGATGATGGTGATGATGATGGTGATGGTGATGATGACGGT GATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGA TGATGATGGTGATGATGAGGATGATGATGGTGATGATGATGATGGTGATG ATGGTGATGGTGATGATGGTGATGAGGATGATGATGGTGATGATGATGGT GATGATGATGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGATGGTGATGATGATGATGATGGTG ATGATGATGGTGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGAT GGTGATGATGATGATGATGGTGATGATGGTGGTGATGATGATGGTGATGA TGGTGATGGTTATGATGGTGATGGTGATGATGGTGATGATGAGGATGATG ATGGTGATGGTGATGATAAGGATGATGATGATGAGGATGATGGTGGTGAT GATGATGGTGATGACGATGATGGTGATGATGATGGTGATGACGATGATGG TGATTGTGATGATGGTGATGACGATGATGAGGATGGTGATGATGGTGATG ATGATGGTGAGGATGGTGATGATGATGGTGATGATGAGGATGGTGATGAT GGTGATGATGATGGTGATTATGATGATGGTGATGATGGTGATGATGATGG TGATGATGATGGTGATGATG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(793): Show AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAG GAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGG GAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGG GAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0087 a0001c0006t0001g0087	1	344	0.0029	800	c.85- others(817): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCC TTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCC TCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTC CTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCTCC TCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGC CTTCCCCCTTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(793): Show ATATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGT ATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTAT ACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATAT CATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTA CATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATA TAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTACATA CTATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGT ATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACTAT GTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGT ATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTAT ATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATAC TACATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCA TATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTACA TACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATATA G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01256.hp1 HG01943.hp2 HG00733.hp1 HG01256.hp1 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0191 a0001c0001t0001g0049 a0001c0001t0001g0191	3	448	0.0067	800	c.51+ others(815): Show c.51+2315_51+2316insCTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACT ATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTAT GTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATAT GATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAG TATACATACTATATGATATACATAGTATGTAGTATACATACTATATGATA TACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATA CATACTATATGATATACATAGTATGTAGTATACATACTATATGATATACA TAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATA CTATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGT ATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTAT ATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGT AGTATACATACTATATGATATACATAGTATGTAGTATACATACTATATGA TATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTA TACATACTATATGATATACATAGTATGTAGTATACATACTATATGATATA CATAGTATGTAGTATACATA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CRLF2_chrX_1185490_1217649	1198339	C C	CCCAGGAA others(793): Show CCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACAC CCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAA GGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTC CCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGAC ACCCTCCCTCCCACCTAGAAGGCAGGACACCCTCCCTCCCACCTCCCAGG AAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCC TCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGG ACACCCTCCCTCCCACCTAGAAGGCAGGACACCCTCCCTCCCACCTCCCA GGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTC CCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCTAGGAAGGCA GGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCAC CTCGAAGGCAGGACAGCCTCCCTCCCACCTCCCGGGAAGATAGGACACCC TCCCTCCCACCTCCCGGGAAGACAGGACACCCTCCCTCCCACCTCGAAGG CAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCC ACCTCCTAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGG ACACCCTCCCTCCCACCTCGAAGGCAGGACAGCCTCCCTCCCACCTCCCG G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03453.hp2 HG02486.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0022 a0001c0003t0001g0107 a0001c0002t0002g0022 a0001c0003t0001g0107	2	167	0.0120	800	c.646 others(815): Show c.646+222_646+223insCCGGGAGGTGGGAGGGAGGCTGTCCTGCCT TCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGG TGTCCTGCCTTCCTAGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGA GGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGT CTTCCCGGGAGGTGGGAGGGAGGGTGTCCTATCTTCCCGGGAGGTGGGAG GGAGGCTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGG GAGGTGGGAGGGAGGGTGTCCTGCCTTCCTAGGAGGTGGGAGGGAGGGTG TCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGG AGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCT TCTAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGG TGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTG GGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGC CTTCTAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAG GGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGG TGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCT TCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGG AGGGTGTCCTGCCTTCCTGG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CTU2_chr16_88701503_88720396	88712963	G G	GCCCCCCT others(793): Show GCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGAC CCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCT GAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCAC TCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCC CTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAG CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGACCCTG ACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAG C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0012 a0008c0010t0001g0012	1	418	0.0024	800	c.737 others(813): Show c.737+63_737+64insCTTCCCCGGGCCCTGACCCCCACTCATGCCCC TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCT GACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGA GCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGC CCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTT CCCCGGACCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGAC CCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCC	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CYP4F11_chr19_15907377_15939529	15933403	A A	AGGAGAGG others(793): Show AGGAGAGGAATGAGTGAGCGGGGAGAGGAACGAGTGAGCGGGGAGAGGAA CGAGTGAGCGAGAAGAGGAACGAGTGAGCGAGGAGAGGAACGAGTGAGCG AGAAGAGGAACGAGTGAGTGAGGAGAGGAACGAGTGAGTGAGGAGAGGAA CGAGTGAGTGAGGAGAGGAACGAGTGAGTGAGGAGAGGAACGAGTGAGTG AGAAGAGGAACGAGTGAGTGAGGAGAGGAACGAGTGAGTGAGAAGAGGAA CGAGTGAGTGAGGAGAGGAACGAGTGAGTGAGGAGAGGAACGAGTGAGCG AGGAGAGGAACGAGTGAGCGAGGAGAGGAACGAGTGAGCGAGGAGAGGAA CGAGTGAGCGGGGAGAGGAACGAGTGAGCGGGGAGAGGAACGAGTGAGCG GGGAGAGGAACGAGTGAGCGGGGAGAGGAACGAGTGAGCGAGGAGAGGAA CGAGTGAGCGAGGAGAGGAACGAGTGAGCGAGGAGAGGAACGAGTGAGCG AGGAGAGGAACGAGTGAGCGAGGAGAGGAACGAGTGAGCGAGGAGAGGAA CGAGTGAGCGAGGAGAGGAACGAGTGAGCGAGGAGAGGAACGAGTGAGTG AGGAGAGGAACGAGTGAGTGAGGAGAGGAACGAGTGAGTGAGGAGAGGAA CGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCG G	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0227 a0001c0002t0020g0227	1	386	0.0026	800	c.198 others(815): Show c.198+807_198+808insCCGCTCACTCATTCCTCTCCCCGCTCACTC ATTCCTCTGCCCACTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGC CCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCACTCACTC ATTCCTCTCCTCACTCACTCGTTCCTCTCCTCACTCACTCGTTCCTCTCC TCACTCACTCGTTCCTCTCCTCACTCACTCGTTCCTCTCCTCGCTCACTC GTTCCTCTCCTCGCTCACTCGTTCCTCTCCTCGCTCACTCGTTCCTCTCC TCGCTCACTCGTTCCTCTCCTCGCTCACTCGTTCCTCTCCTCGCTCACTC GTTCCTCTCCTCGCTCACTCGTTCCTCTCCTCGCTCACTCGTTCCTCTCC CCGCTCACTCGTTCCTCTCCCCGCTCACTCGTTCCTCTCCCCGCTCACTC GTTCCTCTCCCCGCTCACTCGTTCCTCTCCTCGCTCACTCGTTCCTCTCC TCGCTCACTCGTTCCTCTCCTCGCTCACTCGTTCCTCTCCTCACTCACTC GTTCCTCTCCTCACTCACTCGTTCCTCTTCTCACTCACTCGTTCCTCTCC TCACTCACTCGTTCCTCTTCTCACTCACTCGTTCCTCTCCTCACTCACTC GTTCCTCTCCTCACTCACTCGTTCCTCTCCTCACTCACTCGTTCCTCTCC TCACTCACTCGTTCCTCTTCTCGCTCACTCGTTCCTCTCCTCGCTCACTC GTTCCTCTTCTCGCTCACTCGTTCCTCTCCCCGCTCACTCGTTCCTCTCC CCGCTCACTCATTCCTCTCC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
D2HGDH_chr2_241729630_241773811	241766751	A A	AGAAGTTG others(793): Show AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG GGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG GGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG GGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG GGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03516.hp1 HG01243.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	2	412	0.0049	800	c.130 others(817): Show c.1307-956_1307-955insGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(793): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGAGGGAGGGAGGAATGG AGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGG GGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGG GAGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGGA GGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGG GAGGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGG AAGGGGAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAAGGGGAGGG GGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAG G	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0127 a0002c0002t0009g0127	1	216	0.0046	800	c.923 others(819): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTTCCC CTCCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCC TCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTC CCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCC TCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(793): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGG AGGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGGGAGGGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGGGGGAGGGGAGGGGGGGGAGGGGAGGGGGGAGGGGAG GGGAGGGGAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAGGGGGAGGGGAAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGG AAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGG GGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAGGGGAG G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0030 a0001c0001t0006g0030	1	216	0.0046	800	c.923 others(819): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCTGTCTC CCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCC CCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT CCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCC CCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTTCATTCC TCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DIP2C_chr10_269201_694668	321734	C C	CCAGTGAG others(793): Show CCAGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTC CAGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCC AGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCA GCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGG GGCTCCAGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGG GCTCCAGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGG GTGCGGGGCTCCAGTGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGG TGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGT GCGGGGCTCCAGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGAGTGC GGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCG GGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGG GGGTCCGGCGAGAGGCCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGG GGTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGG GTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGC TCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGT G	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0038 a0001c0006t0002g0038	1	88	0.0114	800	c.392 others(819): Show c.3924+5271_3924+5272insCACCCCCGCACCCCCGACTGACTGTT CTAACAGCGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTC TAACAGCGCCGGTCTCTCGCCGGACCCCCGCACCCCCGACTGACTGTTCT AACAACACTGGTCTCTCGCCGGACCCCCGCACCCCCGACTGACTGTTCTA ACAGCGCCGGCCTCTCGCCGGACCCCCGCACCCCCGACTGACTGTTCTAA CAGCGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAAC AGCGCCGGTCTCTCGCCGGAGCCCCGCACTCCCGACTGACTGTTCTAACA GCGCCGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAG CGCCGGTCTCTCACTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGC GCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACG CCGGTCTCTCACTGGAGCCCCGCACCCCCGCACCCCCGACTGACTGTTCT AACAACACTGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTA ACAACACTGGTCTCTCGCTGGAGCCCCGCACCCCCGCACCCCCGACTGAC TGTTCTAACAACACTGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACT GTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTG TTCTAACAGCGCCGGTCTCTCACTGGAGCCCCGCACCCCCGACTGACTGT TCTAACAGCGCCGGTCTCTCACTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DPEP1_chr16_89608642_89643433	89619527	T T	TCCCCTCC others(793): Show TCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCC TGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCC GCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCC CCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTC CCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTC CCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGC CCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCTCTGCAGC CCCCTGGTCCCCCTGCTCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCC CTCTGCTCCCCTCCCTGTAGCTCCCTGCAGCCCCCTGCTCCCCTCCCTGC ACCCCTTTTGCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCACTCCCTTCA C	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0052 a0002c0002t0003g0052	1	250	0.0040	800	c.-10 others(819): Show c.-107+5814_-107+5815insCCTGCAGCCCCCCTGCCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC CCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGC AGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCT CCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCT GCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC GCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCC CTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC GCTCCCCTCTCTGCAGCCCCCTGGTCCCCCTGCTCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCTCCCTCTGCTCCCCTCCCTGTAGCTCCCTGCAGCCC CCTGCTCCCCTCCCTGCACCCCTTTTGCCCCCTGCTCCCCTCCCTGCAGC CCCCTGCACTCCCTTCACCCCCTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EXOC2_chr6_480154_698139	520426	C C	CCACCGAG others(793): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01175.hp2 HG01243.hp2 others(15): Show HG00597.hp1 HG01175.hp2 HG01243.hp2 HG02135.hp2 HG02615.hp1 HG02630.hp2 HG03540.hp2 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18957.hp2 NA18970.hp1 NA18981.hp2 NA18982.hp2 NA18992.hp2 NA19002.hp2 NA19012.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0015 a0001c0018	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0010 a0001c0003t0003 a0001c0004t0001 a0001c0004t0004 a0001c0015t0003 a0001c0018t0003	a0001c0001t0001g0017 a0001c0001t0003g0202 a0001c0002t0001g0030 others(15): Show a0001c0001t0001g0017 a0001c0001t0003g0202 a0001c0002t0001g0030 a0001c0002t0001g0054 a0001c0002t0001g0066 a0001c0002t0001g0099 a0001c0002t0002g0031 a0001c0002t0002g0231 a0001c0002t0004g0018 a0001c0002t0004g0250 a0001c0002t0010g0035 a0001c0002t0010g0055 a0001c0002t0010g0248 a0001c0003t0003g0208 a0001c0004t0001g0213 a0001c0004t0004g0006 a0001c0015t0003g0041 a0001c0018t0003g0192	18	272	0.0662	800	c.238 others(821): Show c.2380+12042_2380+12043insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520576	C C	CCACCGAG others(793): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCACCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0009 a0001c0002t0004g0009	1	272	0.0037	800	c.238 others(821): Show c.2380+11892_2380+11893insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGTGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520576	C C	CCACCGAG others(793): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19085.hp1 NA18973.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0142 a0001c0001t0001g0109 a0001c0001t0001g0142	2	272	0.0074	800	c.238 others(821): Show c.2380+11892_2380+11893insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520576	C C	CCACCGAG others(793): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18946.hp2 HG02027.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0110 a0001c0001t0015g0019 a0001c0001t0001g0110 a0001c0001t0015g0019	2	272	0.0074	800	c.238 others(821): Show c.2380+11892_2380+11893insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520576	C C	CCACCGAG others(793): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0209 a0001c0003t0006g0209	1	272	0.0037	800	c.238 others(821): Show c.2380+11892_2380+11893insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520576	C C	CCACCGAG others(793): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCAACAC CCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0147 a0001c0001t0008g0147	1	272	0.0037	800	c.238 others(821): Show c.2380+11892_2380+11893insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520576	C C	CCACCGAG others(793): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	272	0.0037	800	c.238 others(821): Show c.2380+11892_2380+11893insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520576	C C	CCACCGAG others(793): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19074.hp2 NA19072.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0077 a0001c0001t0001g0080	2	272	0.0074	800	c.238 others(821): Show c.2380+11892_2380+11893insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
F2_chr11_46714213_46744506	46721218	A A	ATTTTTAG others(793): Show ATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAAC TCCTGACCTCGTGATCCACCCACCTCGGCCTCAAAGTGCTGGGATTATAG AAGTGAGCCACCGCGCCTGGCCATGAATTCATGTTTAAGGCTTCATTCTC CTTTGCCTGACCCGAGTCTCTGCCCCCACCTAGTCAGAGCTTTGATGATG TCACATTCCCCTTCTAGCTTTAGGTGTCACTGAACCAAACAGGAACCCAA ACCCCCAGCTGCTCTGACACCAAGGACTTCCCTAAGCATGCCAAGGTGTT TCTAGCACCTGGCCTTGCATATGTTGTCAATTTCCTCTGGAGCGACCATC ACATCTACTGAACACTTTCCTATCCTTCAAGGACTGCTTCAAATGTCACC ACTTTTGCTGAGACTTCAGGGAGCACCCTCCCTCCTGCACTGTGTTCTGA AGGCACCTTTAGCACGACAAAAATGGAACCCTTTGTTTATTTATAAGAGA CAGGGTCTCCCTTTTTTGCCCAGGCTGATCTTGAACTCCTGGGCTCAGGC AATTCTCCCATCTCAGTCTCCCAAAGGAGTAGGATTATAAGTGTGAGCCA CCATGCCTGGCTGCCATACTTTCATTTTTTTTTTTTTTTTTTGAGGTGGA GTCTCACTCTGTCGCCTAGGCTGGAGTGCAGCAGCGCGATCTCGGCTCGC TGCAACCTCCGCCTAGCGGATTCAAGTGATTCTCCTGCCTTAGCCTCCTG AGTAGCTGGGATTACAGGCACACACTACCATGCCCAGCTAATTTTTTGTA T	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	350	0.0029	800	c.316 others(815): Show c.316+856_316+857insCCTTTGTTTATTTATAAGAGACAGGGTCTC CCTTTTTTGCCCAGGCTGATCTTGAACTCCTGGGCTCAGGCAATTCTCCC ATCTCAGTCTCCCAAAGGAGTAGGATTATAAGTGTGAGCCACCATGCCTG GCTGCCATACTTTCATTTTTTTTTTTTTTTTTTGAGGTGGAGTCTCACTC TGTCGCCTAGGCTGGAGTGCAGCAGCGCGATCTCGGCTCGCTGCAACCTC CGCCTAGCGGATTCAAGTGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGG GATTACAGGCACACACTACCATGCCCAGCTAATTTTTTGTATTTTTTAGT AGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCT CGTGATCCACCCACCTCGGCCTCAAAGTGCTGGGATTATAGAAGTGAGCC ACCGCGCCTGGCCATGAATTCATGTTTAAGGCTTCATTCTCCTTTGCCTG ACCCGAGTCTCTGCCCCCACCTAGTCAGAGCTTTGATGATGTCACATTCC CCTTCTAGCTTTAGGTGTCACTGAACCAAACAGGAACCCAAACCCCCAGC TGCTCTGACACCAAGGACTTCCCTAAGCATGCCAAGGTGTTTCTAGCACC TGGCCTTGCATATGTTGTCAATTTCCTCTGGAGCGACCATCACATCTACT GAACACTTTCCTATCCTTCAAGGACTGCTTCAAATGTCACCACTTTTGCT GAGACTTCAGGGAGCACCCTCCCTCCTGCACTGTGTTCTGAAGGCACCTT TAGCACGACAAAAATGGAAC	F2	ENSG00000180210.15	transcript	ENST00000311907.10	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
F2_chr11_46714213_46744506	46721841	A A	ATTTTTTT others(793): Show ATTTTTTTTTTTTTTTTTTGAGGTGGAGTCTCACTCTGTCGCCTAGGCTG GAGTGCAGCAGCGCGATCTCGGCTCGCTGCAACCTCCGCCTAGCGGATTC AAGTGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCACAC ACTACCATGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTC ACCATGTGGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCAC CTCGGCCTCAAAGTGCTGGGATTATAGAAGTGAGCCACCGCGCCTGGCCA TGAATTCATGTTTAAGGCTTCATTCTCCTTTGCCTGACCCGAGTCTCTGC CCCCACCTAGTCAGAGCTTTGATGATGTCACATTCCCCTTCTAGCTTTAG GTGTCACTGAACCAAACAGGAACCCAAACCCCCAGCTGCTCTGACACCAA GGACTCCCTAAGCATGCCAAGGTGTTTCTAGCACCTGGCCTTGCATATGT TGTCAATTTCCTCTGGAGCGACCATCACATCTACTGAACACTTTCCTATC CTTCAAGGACTGCTTCAAATGTCACCACTTTTGCTGAGACTTCAGGGAGC ACCCTCCCTCCTGCACTGTGTTTCTGAAGGCACCTTTAGCACGACAAAAA TGGAACCCTTTGTTTATTTATAAGAGACAGGGTCTCCCTTTTTTGCCCAG GCTGATCTTGAACTCCTGGGCTCAGGCAATTCTCCCATCTCAGTCTCCCA AAGGAGTAGGATTATAAGTGTGAGCCACCATGCCTGGCTGCCATACTTCA T	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0183 a0002c0002t0001g0183	1	350	0.0029	800	c.316 others(817): Show c.316+1019_316+1020insGAGGTGGAGTCTCACTCTGTCGCCTAGG CTGGAGTGCAGCAGCGCGATCTCGGCTCGCTGCAACCTCCGCCTAGCGGA TTCAAGTGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCA CACACTACCATGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGT TTCACCATGTGGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACC CACCTCGGCCTCAAAGTGCTGGGATTATAGAAGTGAGCCACCGCGCCTGG CCATGAATTCATGTTTAAGGCTTCATTCTCCTTTGCCTGACCCGAGTCTC TGCCCCCACCTAGTCAGAGCTTTGATGATGTCACATTCCCCTTCTAGCTT TAGGTGTCACTGAACCAAACAGGAACCCAAACCCCCAGCTGCTCTGACAC CAAGGACTCCCTAAGCATGCCAAGGTGTTTCTAGCACCTGGCCTTGCATA TGTTGTCAATTTCCTCTGGAGCGACCATCACATCTACTGAACACTTTCCT ATCCTTCAAGGACTGCTTCAAATGTCACCACTTTTGCTGAGACTTCAGGG AGCACCCTCCCTCCTGCACTGTGTTTCTGAAGGCACCTTTAGCACGACAA AAATGGAACCCTTTGTTTATTTATAAGAGACAGGGTCTCCCTTTTTTGCC CAGGCTGATCTTGAACTCCTGGGCTCAGGCAATTCTCCCATCTCAGTCTC CCAAAGGAGTAGGATTATAAGTGTGAGCCACCATGCCTGGCTGCCATACT TCATTTTTTTTTTTTTTTTTTT	F2	ENSG00000180210.15	transcript	ENST00000311907.10	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
F2_chr11_46714213_46744506	46721842	T T	TTTTTTTT others(793): Show TTTTTTTTTTTTTTTTTTTGAGGTGGAGTCTCACTCTGTCGCCTAGGCTG GAGTGCAGCAGCGCGATCTCGGCTCGCTGCAACCTCCGCCTAGCGGATTC AAGTGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCACAC ACTACCATGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTC ACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCAC CTCGGCCTCAAAGTGCTGGGATTATAGAAGTGAGCCACCGCGCCTGGCCA TGAATTCATGTTTAAGGCTTCATTCTCCTTTGCCTGACCCGAGTCTCTGC CCCCACCTAGTCAGAGCTTTGATGATGTCACATTCCCCTTCTAGCTTTAG GTGTCACTGAACCAAACAGGAACCCAAACCCCCAGCTGCTCTGACACCAA GGACTTCCCTAAGCATGCCAAGGTGTTTCTAGCACCTGGCCTTGCATATG TTGTCAATTTCCTCTGGAGCGACCATCACATCTACTGAACACTTTCCTAT CCTTCAAGGACTGCTTCAAATGTCACCACTTTTGCTGAGACTTCAGGGAG CACCCTCCCTCCTGCACTGTGTTCTGAAGGCACCTTTAGCACGACAAAAA TGGAACCCTTTGTTTATTTATAAGAGACAGGGTCTCCCTTTTTTGCCCAG GCTGATCTTGAACTCCTGGGCTCAGGCAATTCTCCCATCTCAGTCTCCCA AAGGAGTAGGATTATAAGTGTGAGCCACCATGCCTGGCTGCCATACTTTC A	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19087.hp1 NA18954.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0190 a0002c0002t0001g0191	2	350	0.0057	800	c.317 others(817): Show c.317-1118_317-1117insTTGAACTCCTGACCTCGTGATCCACCCA CCTCGGCCTCAAAGTGCTGGGATTATAGAAGTGAGCCACCGCGCCTGGCC ATGAATTCATGTTTAAGGCTTCATTCTCCTTTGCCTGACCCGAGTCTCTG CCCCCACCTAGTCAGAGCTTTGATGATGTCACATTCCCCTTCTAGCTTTA GGTGTCACTGAACCAAACAGGAACCCAAACCCCCAGCTGCTCTGACACCA AGGACTTCCCTAAGCATGCCAAGGTGTTTCTAGCACCTGGCCTTGCATAT GTTGTCAATTTCCTCTGGAGCGACCATCACATCTACTGAACACTTTCCTA TCCTTCAAGGACTGCTTCAAATGTCACCACTTTTGCTGAGACTTCAGGGA GCACCCTCCCTCCTGCACTGTGTTCTGAAGGCACCTTTAGCACGACAAAA ATGGAACCCTTTGTTTATTTATAAGAGACAGGGTCTCCCTTTTTTGCCCA GGCTGATCTTGAACTCCTGGGCTCAGGCAATTCTCCCATCTCAGTCTCCC AAAGGAGTAGGATTATAAGTGTGAGCCACCATGCCTGGCTGCCATACTTT CATTTTTTTTTTTTTTTTTTGAGGTGGAGTCTCACTCTGTCGCCTAGGCT GGAGTGCAGCAGCGCGATCTCGGCTCGCTGCAACCTCCGCCTAGCGGATT CAAGTGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCACA CACTACCATGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTT CACCATGTTGGCCAGGCTGGTC	F2	ENSG00000180210.15	transcript	ENST00000311907.10	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM81A_chr15_59433186_59528555	59433245	C C	CAGGCGTT others(793): Show CAGGCGTTCAGGACCAGCCTGACCAACATGGTGAAACCCTGACTCTACTA AAAATTACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTATAATCCCAGC TACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAACCCGGGAGGTGGAGAT TACAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGAGCAACAAGAGC AAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGAAATTGATGCAAAA CATCCATGATTAATAAAAAATGAAAATTTTCAATAAGGACAGGGTCAGTA TTCCTAATTTTCTTTGCCTGGCTTCAATGTGTCTTGCTATGGCACTGTAT ACCACAACCTCGTGTGATGGGTATTGTCATTTCTTTTTTGTTGTTGAACA GAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGAACAACTGTCTGATAA TGTATTACTTGACAAAGAAGCCAAAACAAGAGTGTCAGCTTATGTGAGGT TTCATTGTCTAAACTGTGGTGTCATGACTGGCTAATGTAAGGTAGGCCAT GAATGTTTGCTGAACTAGATTGAACCGAGCCAAAGTGGTATCAAACTTCA GAACAGCCTGAAGACTATATATGTGTGTATTTTATATATATATATATATA TATATATATATATATATATATATATATATATATATGTCTATTTCCTGAGA ATTGTTGGAAAGAAGAATTGTTTCAAAATCAATGTGAAATAGAATTTTCC ATTACTTTTCTTGCCTCTGAACTGGGTTTTGGATAAATCAGTTTTATTAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0223 a0001c0001t0019g0223	1	374	0.0027	800	c.-51 others(811): Show c.-5115_-5114insAGGCGTTCAGGACCAGCCTGACCAACATGGTGAA ACCCTGACTCTACTAAAAATTACAAAAATTAGCCAGGTGTGGTGGCACGC GCCTATAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAAC CCGGGAGGTGGAGATTACAGTGAGCCAAGATTGCACCATTGCACTCCAGC CTGAGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAA GAAATTGATGCAAAACATCCATGATTAATAAAAAATGAAAATTTTCAATA AGGACAGGGTCAGTATTCCTAATTTTCTTTGCCTGGCTTCAATGTGTCTT GCTATGGCACTGTATACCACAACCTCGTGTGATGGGTATTGTCATTTCTT TTTTGTTGTTGAACAGAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGA ACAACTGTCTGATAATGTATTACTTGACAAAGAAGCCAAAACAAGAGTGT CAGCTTATGTGAGGTTTCATTGTCTAAACTGTGGTGTCATGACTGGCTAA TGTAAGGTAGGCCATGAATGTTTGCTGAACTAGATTGAACCGAGCCAAAG TGGTATCAAACTTCAGAACAGCCTGAAGACTATATATGTGTGTATTTTAT ATATATATATATATATATATATATATATATATATATATATATATATATAT GTCTATTTCCTGAGAATTGTTGGAAAGAAGAATTGTTTCAAAATCAATGT GAAATAGAATTTTCCATTACTTTTCTTGCCTCTGAACTGGGTTTTGGATA AATCAGTTTTATTATA	FAM81A	ENSG00000157470.12	transcript	ENST00000288228.10	protein_coding		4940		chr15	TogoVar

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Search Results (Total: 7053 hits)