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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(666): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACAC AGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAG GGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGA AGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGG CACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	398	0.0025	673	c.-22 others(684): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTC CACACCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCG TGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTTCTGC CGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
CELF4_chr18_37238040_37570798	37283949	T T	TATAGCCC others(666): Show TATAGCCCAACACACACATACGCATACACACACCAATACATGCACCATGC ATATACCCCAACATACACACACACACACACACACACACTGCAATACACAC ACCACACATACACCCCAACACACACACACACACATACAGACACCAATACA TACACCATGCATATACCCCAACACACACACACCCCCAATACACTCACAAC ACATACACCCCAACACACACACACCCCCAATACACACACCACACATATAC CCCAACACACACACACACACACCCAATACACACACCACACATATACCCCA ACACACACACACCAATACATGCACCAACACATATACCCCAACATACACAC ACACCCCCAACACACACCAAAGCATATACGCCAACACACACACACATACA CAGCAATGCATTACCCCAACATACACACACAGACACACACACAATACACA CACCAATACACACCAATGCAATACCCCAACATACACACATATAGCAACAT ACACCCTAACACACATACATACACATACACACACCAAATAGACACACACC CCAACACACACAACCAACACCCCCACACACCCAACACACACACATACACG TACACACACATCAACACATAACTATGCACCCCAACACACACACACACACA CAACATACACACATATACACATAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03225.hp1 HG02486.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0126 a0001c0001t0008g0137 a0001c0001t0001g0126 a0001c0001t0008g0137	2	184	0.0109	673	c.449 others(690): Show c.449-8707_449-8706insGTATGTGTATATGTGTGTATGTTGTGTG TGTGTGTGTGTGTTGGGGTGCATAGTTATGTGTTGATGTGTGTGTACGTG TATGTGTGTGTGTTGGGTGTGTGGGGGTGTTGGTTGTGTGTGTTGGGGTG TGTGTCTATTTGGTGTGTGTATGTGTATGTATGTGTGTTAGGGTGTATGT TGCTATATGTGTGTATGTTGGGGTATTGCATTGGTGTGTATTGGTGTGTG TATTGTGTGTGTGTCTGTGTGTGTATGTTGGGGTAATGCATTGCTGTGTA TGTGTGTGTGTGTTGGCGTATATGCTTTGGTGTGTGTTGGGGGTGTGTGT GTATGTTGGGGTATATGTGTTGGTGCATGTATTGGTGTGTGTGTGTTGGG GTATATGTGTGGTGTGTGTATTGGGTGTGTGTGTGTGTGTGTTGGGGTAT ATGTGTGGTGTGTGTATTGGGGGTGTGTGTGTGTTGGGGTGTATGTGTTG TGAGTGTATTGGGGGTGTGTGTGTGTTGGGGTATATGCATGGTGTATGTA TTGGTGTCTGTATGTGTGTGTGTGTGTGTTGGGGTGTATGTGTGGTGTGT GTATTGCAGTGTGTGTGTGTGTGTGTGTGTGTATGTTGGGGTATATGCAT GGTGCATGTATTGGTGTGTGTATGCGTATGTGTGTGTTGGGCTAT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	3/12			chr18	TogoVar
CELSR1_chr22_46356174_46542620	46366255	A A	AGAAAGGT others(666): Show AGAAAGGTGGGGGGGAGGAGAGGTGCACGGGGGGAGGAAAGGTGCGGGGG GAGGAAAGGTGCGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGGGG GGAGGAAAGGTGCACGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGGG GGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGG GGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCG GGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCACGGGGGGAGGAAAGGT GCGGGGGGAGGAAAGGTGCACGGGGGGAGGAAAGGTGCGGGGGGAGGAAA GGTGCACGGGGGGGGGAAGGTGCACGGGGGGGGGAAGGTGCACGGGGGGG GGGAAAGGTGCGGGGGGAGGAGAGGTGCGGGGGGAGGAGAGGTGCGGGGG GAGGAGAGGTGCGGGGGGAGGAGAGGTGCGGGGGGAGGAGAGGTGCGGGG GGAGGAGAGGTGCGGGGGGAGGAGAGGTGCGGGGGGAGGAGAGGTGCGGG GGGAGGAGAGGTGCGGGGGGAGGAGAGGTGCGGGGGGAGGAGAGGTGCGG GGGGAGGAGAGGTGCGGGGGGAGGAGAGGTGCGGGGGGAGGAGAGGTGCG GGGGGAGGAAAGGTGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0032 a0032	a0032c0018 a0032c0018	a0032c0018t0002 a0032c0018t0002	a0032c0018t0002g0021 a0032c0018t0002g0021	1	104	0.0096	673	c.830 others(690): Show c.8300+130_8300+131insCTCCCCCCGCACCTTTCCTCCCCCCGCA CCTCTCCTCCCCCCGCACCTCTCCTCCCCCCGCACCTCTCCTCCCCCCGC ACCTCTCCTCCCCCCGCACCTCTCCTCCCCCCGCACCTCTCCTCCCCCCG CACCTCTCCTCCCCCCGCACCTCTCCTCCCCCCGCACCTCTCCTCCCCCC GCACCTCTCCTCCCCCCGCACCTCTCCTCCCCCCGCACCTCTCCTCCCCC CGCACCTCTCCTCCCCCCGCACCTCTCCTCCCCCCGCACCTTTCCCCCCC CCCGTGCACCTTCCCCCCCCCGTGCACCTTCCCCCCCCCGTGCACCTTTC CTCCCCCCGCACCTTTCCTCCCCCCGTGCACCTTTCCTCCCCCCGCACCT TTCCTCCCCCCGTGCACCTTTCCTCCCCCCGCACCTTTCCTCCCCCCGCA CCTTTCCTCCCCCCGCACCTTTCCTCCCCCCGCACCTTTCCTCCCCCCGC ACCTTTCCTCCCCCCGCACCTTTCCTCCCCCCGCACCTTTCCTCCCCCCG CACCTTTCCTCCCCCCGCACCTTTCCTCCCCGTGCACCTTTCCTCCCCCC GCACCTTTCCTCCCCCCGCACCTTTCCTCCCCCCGCACCTTTCCTCCCCC CGCACCTTTCCTCCCCCCGTGCACCTCTCCTCCCCCCCACCTTTC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	30/34			chr22	TogoVar
CENPI_chrX_101093204_101171126	101137985	T T	TCTGTCTT others(666): Show TCTGTCTTTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCT GGAGTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTT GAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCG TGCCACCACGCCTGGCTAATTTTTTTGGTATTTTTAGTAGAGACAGGGTT TCACCATGTTAGCCAGGATGGTCTCAGTCTCCTGACATCATTATCAGACC GCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTG GCTCAACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTA TGCCTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGAATCATTTGAG GTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCA GCTACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAG GTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAG TGAGATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATC GTCATGAACATAAAAACCTCGTAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0236 a0001c0002t0028g0236	1	282	0.0036	673	c.147 others(692): Show c.1471-2679_1471-2678insGTCTTTTTTTTTTTTTTTTAGACGGA GTCTTGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATT GCAACCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAA GTAGCTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTTGGT ATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCAGTC TCCTGACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTAC AGGCGTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAAC CGGCCATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACC GAGGCGGGTGAATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAC ATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAG TAGCGCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATC GCTTGAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGC ACTCCAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGA CAAAACCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACCT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPI_chrX_101093204_101171126	101137985	T T	TCTGTCTT others(666): Show TCTGTCTTTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCT GGAGTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTT GAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCG TGCCACCACGCCTGGCTAATTTTTTTGGTATTTTTAGTAGAGACAGGGTT TCACCATGTTAGCCAGGATGGTCTCAGTCTCCTGACATCATTATCAGACC GCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTG GCTCAACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTA TGCCTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAG GTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCA GCTACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAG GTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAG TGAGATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATC GTCATGAACATAAAAACCTCGTAC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0221 a0001c0002t0009g0221	1	282	0.0036	673	c.147 others(692): Show c.1471-2679_1471-2678insGTCTTTTTTTTTTTTTTTTAGACGGA GTCTTGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATT GCAACCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAA GTAGCTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTTGGT ATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCAGTC TCCTGACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTAC AGGCGTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAAC CGGCCATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACC GAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAC ATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAG TAGCGCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATC GCTTGAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGC ACTCCAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGA CAAAACCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACCT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPI_chrX_101093204_101171126	101137985	T T	TCTTTCTT others(666): Show TCTTTCTTTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCT GGAGTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTT GAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCG TGCCACCACGCCTGGCTAATTTTTTTGGTATTTTTAGTAGAGACGGGGTT TCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACATCATTATCAGACC GCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTG GCTCAACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTA TGCCTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAG GTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCA GCTACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAG GTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAG TGAGATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATC GTCATGAACATAAAAACCTCGTAC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	282	0.0036	673	c.147 others(692): Show c.1471-2677_1471-2676insCTTTTTTTTTTTTTTTTAGACGGAGT CTTGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGC AACCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAGT AGCTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTTGGTAT TTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTC CTGACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACAG GCGTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACCG GCCATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCGA GGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAT GGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGTA GCGCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCGC TTGAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCAC TCCAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGACA AAACCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACCTTT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPI_chrX_101093204_101171126	101137986	C C	CTGTCTTT others(666): Show CTGTCTTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCTGG AGTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTGA AGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCGTG CCACCACGCCTGGCTAATTTTTTTGGTATTTTTAGTAGAGACAGGGTTTC ACCATGTTAGCCAGGATGGTCTCAGTCTCCTGACATCATTATCAGACCGC CTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGC TCAACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTATG CCTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAGGT CAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTA AAAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCAGC TACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAGGT TGCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAGTG AGATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATCGT CATGAACATAAAAACCTCGTACCT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0234 a0001c0002t0006g0234	1	282	0.0036	673	c.147 others(692): Show c.1471-2679_1471-2678insGTCTTTTTTTTTTTTTTTAGACGGAG TCTTGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTG CAACCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAG TAGCTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTTGGTA TTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCAGTCT CCTGACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACA GGCGTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACC GGCCATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCG AGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACA TGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGT AGCGCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCG CTTGAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCA CTCCAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGAC AAAACCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACCTT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPI_chrX_101093204_101171126	101137986	C C	CTGTCTTT others(666): Show CTGTCTTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCTGG AGTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTGA AGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCGTG CCACCACGCCTGGCTAATTTTTTTGGTATTTTTAGTAGAGACAGGGTTTC ACCATGTTAGCCAGGATGGTCTCAGTCTCGTGACATCATTATCAGACCGC CTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGC TCAACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTATG CCTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAGGT CAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTA AAAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCAGC TACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAGGT TGCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAGTG AGATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATCGT CATGAACATAAAAACCTCGTACCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0244 a0001c0002t0031g0244	1	282	0.0036	673	c.147 others(692): Show c.1471-2679_1471-2678insGTCTTTTTTTTTTTTTTTAGACGGAG TCTTGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTG CAACCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAG TAGCTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTTGGTA TTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCAGTCT CGTGACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACA GGCGTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACC GGCCATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCG AGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACA TGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGT AGCGCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCG CTTGAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCA CTCCAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGAC AAAACCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACCTT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPI_chrX_101093204_101171126	101137986	C C	CTGTCTTT others(666): Show CTGTCTTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCTGG AGTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTGA AGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCGTG CCACCACGCCTGGCTAATTTTTTTGGTATTTTTAGTAGAGACGGGGTTTC ACCATGTTAGCCAGGATGGTCTCAATCTCCTGACATCATTATCAGACCGC CTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGC TCAACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTATG CCTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAGGT CAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTA AAAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCAGC TACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAGGT TGCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAGTG AGATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATCGT CATGAACATAAAAACCTCGTACCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	282	0.0036	673	c.147 others(692): Show c.1471-2679_1471-2678insGTCTTTTTTTTTTTTTTTAGACGGAG TCTTGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTG CAACCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAG TAGCTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTTGGTA TTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCT CCTGACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACA GGCGTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACC GGCCATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCG AGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACA TGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGT AGCGCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCG CTTGAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCA CTCCAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGAC AAAACCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACCTT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPI_chrX_101093204_101171126	101137986	C C	CTTTCTTT others(666): Show CTTTCTTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCTGG AGTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTGA AGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCGTG CCACCACGCCTGGCTAATTTTTTGGTATTTTTAGTAGAGACGGGGTTTCA CCATGTTAGCCAGGATGGTCTCAATCTCCTGACATCATTATCAGACCGCC TTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCT CAACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTATGC CTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAGGTC AGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCAGCT ACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAGGTT GCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAGTGA GATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATCGTC ATGAACATAAAAACCTCGTACCTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0086 a0001c0001t0004g0086	1	282	0.0036	673	c.147 others(692): Show c.1471-2677_1471-2676insCTTTTTTTTTTTTTTTAGACGGAGTC TTGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCA ACCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAGTA GCTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTGGTATTT TTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCT GACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGC GTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACCGGC CATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCGAGG CGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGG TGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGTAGC GCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCGCTT GAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTC CAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGACAAA ACCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACCTTTTT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPI_chrX_101093204_101171126	101137986	C C	CTTTCTTT others(666): Show CTTTCTTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCTGG AGTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTGA AGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCGTG CCACCACGCCTGGCTAATTTTTTTGGTATTTTTAGTAGAGACGGGGTTTC ACCATGTTAGCCAGGATGGTCTCAATCTCCTGACATCATTATCAGACCGC CTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGC TCAACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTATG CCTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAGGT CAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTA AAAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCAGC TACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAGGT TGCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAGTG AGATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATCGT CATGAACATAAAAACCTCGTACCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG00639.hp1 others(56): Show HG00323.hp2 HG00597.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01109.hp1 HG01175.hp1 HG01255.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp1 HG02129.hp1 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02630.hp2 HG02683.hp2 HG02886.hp1 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03490.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03834.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18948.hp1 NA18957.hp2 NA18959.hp1 NA18979.hp2 NA18980.hp1 NA18989.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19082.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0034 a0001c0002t0007 a0001c0002t0017 a0002c0003t0007 a0002c0003t0032 a0003c0004t0003	a0001c0001t0001g0171 a0001c0001t0003g0001 a0001c0001t0003g0004 others(53): Show a0001c0001t0001g0171 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0107 a0001c0001t0003g0122 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0019g0004 a0001c0001t0024g0007 a0001c0001t0025g0008 a0001c0001t0026g0009 a0001c0001t0034g0138 a0001c0002t0007g0181 a0001c0002t0007g0182 a0001c0002t0007g0184 a0001c0002t0017g0135 a0002c0003t0007g0185 a0002c0003t0032g0183 a0003c0004t0003g0144	59	282	0.2092	673	c.147 others(692): Show c.1471-2677_1471-2676insCTTTTTTTTTTTTTTTAGACGGAGTC TTGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCA ACCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAGTA GCTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTTGGTATT TTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCC TGACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGG CGTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACCGG CCATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCGAG GCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATG GTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGTAG CGCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCGCT TGAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACT CCAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGACAA AACCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACCTTTT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPI_chrX_101093204_101171126	101137986	C C	CTTTCTTT others(666): Show CTTTCTTTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCTG GAGTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTG AAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCGT GCCACCACGCCTGGCTAATTTTTTGGTATTTTTAGTAGAGACGGGGTTTC ACCATGTTAGCCAGGATGGTCTCAATCTCCTGACATCATTATCAGACCGC CTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGC TCAACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTATG CCTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAGGT CAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTA AAAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCAGC TACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAGGT TGCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAGTG AGATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATCGT CATGAACATAAAAACCTCGTACCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0125	1	282	0.0036	673	c.147 others(692): Show c.1471-2677_1471-2676insCTTTTTTTTTTTTTTTTAGACGGAGT CTTGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGC AACCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAGT AGCTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTGGTATT TTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCC TGACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGG CGTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACCGG CCATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCGAG GCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATG GTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGTAG CGCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCGCT TGAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACT CCAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGACAA AACCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACCTTTT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(666): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCT TCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCC CTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCC CCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCC CCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCC CCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTT CTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCT TCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCC CTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0004 a0002c0001t0002g0004	1	354	0.0028	673	c.69 others(684): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTC CCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTC CCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCC CTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTC CCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCC TCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCC TCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCC TCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCT TCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTC CCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(666): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCC CGCCCCTCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01891.hp1 HG02109.hp2 others(6): Show HG00738.hp2 HG01891.hp1 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02895.hp2 HG02976.hp1 NA18906.hp1	a0005 a0012 a0016 others(1): Show a0005 a0012 a0016 a0034	a0005c0004 a0012c0015 a0016c0022 others(1): Show a0005c0004 a0012c0015 a0016c0022 a0034c0055	a0005c0004t0001 a0012c0015t0001 a0016c0022t0001 others(1): Show a0005c0004t0001 a0012c0015t0001 a0016c0022t0001 a0034c0055t0001	a0005c0004t0001g0007 a0005c0004t0001g0108 a0012c0015t0001g0007 others(2): Show a0005c0004t0001g0007 a0005c0004t0001g0108 a0012c0015t0001g0007 a0016c0022t0001g0007 a0034c0055t0001g0112	9	428	0.0210	673	c.217 others(688): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCC CGCCCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(666): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	428	0.0023	673	c.217 others(688): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(666): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	428	0.0023	673	c.217 others(688): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(666): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	428	0.0023	673	c.217 others(688): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(666): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	428	0.0023	673	c.217 others(688): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(666): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01975.hp2 HG01943.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	2	428	0.0047	673	c.217 others(688): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(666): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01993.hp1 HG02602.hp1 HG01081.hp1 HG01993.hp1 HG02602.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0034 a0003c0007t0001g0196 a0001c0001t0001g0034 a0003c0007t0001g0196	3	428	0.0070	673	c.217 others(688): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(666): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01993.hp2 HG01433.hp2 HG01993.hp2	a0001 a0003 a0001 a0003	a0001c0024 a0003c0003 a0001c0024 a0003c0003	a0001c0024t0001 a0003c0003t0001 a0001c0024t0001 a0003c0003t0001	a0001c0024t0001g0158 a0003c0003t0001g0061 a0001c0024t0001g0158 a0003c0003t0001g0061	2	428	0.0047	673	c.217 others(688): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(666): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	428	0.0023	673	c.217 others(688): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(666): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCCAACCACAC TGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	428	0.0023	673	c.217 others(688): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCCAACCACAC TGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(666): Show TGCTGCCCGTGTGGCTGCCCCTGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	428	0.0023	673	c.217 others(688): Show c.2176-73_2176-72insCTGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81704601	C C	CCCCCCAC others(666): Show CCCCCCACCCACTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGTCC CCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCCACCCTC CTCCCTGCCCCCTTACTCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTC CCCTCACCCTCCTCCCTGTCCCCTCACCCTCCTCCCTCACCCTCCCCCTC CTCCCTCACCCTCCCCCTCCTCCCTCCCCCATCCCTCCTCCCTCCCCCTC ACCCTTCTCCCTGCCCCCTCACCCCCCTCCCTGCCCCTCACCCTCCTCCC TGCCCCCTCACCCTCCTCCCTGCCCCTTCATCCTCCTCCCTGCCCCTTCA CCCTCCTCCCTGCTCCCCTCACCCTCCTCCCTGCTCCCTCACCCTCCTCA GTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTC ACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCC CTGCCCCCTCACCCTCCTCTCTTTCCCCTCACCTTCCTCCCTGCCCCTTC ACCCTCCTCCCTGCCCACTCACCCTCCTCCCTGCCCCCGCACCTTCTTCC CTGCCCCCTCACCCTCCTCCCTGCCCCCTCACTCTCCTCCCTAACTTGTT CACCCTCCTCCCTACCCCTTCATT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	268	0.0037	673	c.209 others(690): Show c.2091+517_2091+518insCCCCACCCACTCACCCTCCTCCCTGCCC CCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCT CCTCCCTGCCCCCCACCCTCCTCCCTGCCCCCTTACTCTCCTCCCTGCCC CTTCACCCTCCTCCCTGCTCCCCTCACCCTCCTCCCTGTCCCCTCACCCT CCTCCCTCACCCTCCCCCTCCTCCCTCACCCTCCCCCTCCTCCCTCCCCC ATCCCTCCTCCCTCCCCCTCACCCTTCTCCCTGCCCCCTCACCCCCCTCC CTGCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCTTCA TCCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTCCCCTCACCCTCCTCC CTGCTCCCTCACCCTCCTCAGTGCCCCCTCACCCTCCTCCCTGCCCCCTC ACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCC CTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCTCTTTCCCCTC ACCTTCCTCCCTGCCCCTTCACCCTCCTCCCTGCCCACTCACCCTCCTCC CTGCCCCCGCACCTTCTTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTC ACTCTCCTCCCTAACTTGTTCACCCTCCTCCCTACCCCTTCATTC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81704622	T T	TCTCCTCC others(666): Show TCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCCACCCTCCTCCCTG CCCCCTTACTCTCCTCCCTGCCCCTTAACCCTCCTCCCTGCTCCCCTCAC CCTCCCTCCCTGTCCCCTCACCCTCCTCCCTCACCCTCCCCCTCCTCCCT CCCCCGTCCCTCCTCCCTCCCCCTCACCCTTCTCCCTGCCCCCTCACCCC CCTCCCTGCCCCTCACCCTCCTCCCTGCCCCTCACCCTCCTCCCTGCCCC TCACCCTCCTCCCTGCCCCTTCATCCTCCTCCCTACCCCTCACCCTCCTC CCTGCCCCTTCATCCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTCCCC TCACCCTCCTCCCTGCTCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCT CCCTGCCCCCCTCACCCTCCTCCTGCCCCCTCACCCTCCTCCCTGCCCCC TCACCCTCCTCTCTTTCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCT CTCTTTCCCCTCACCTTCCTCCCTGCCCCTTCACCCGCCTCCCTGCCCAC TCACCCTCCTCCCTGCCCCCGCACCTTCTTCCCTGCCCCCTCACCCTCCT CCCTGCCCCTCACTCTCCTCCCTAACTTGTTCACCCTCCTCCCTACCCCT TCATTCTCCTCCCTGCCCCCCACC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	268	0.0037	673	c.209 others(690): Show c.2091+547_2091+548insCCCCCTCACCCTCCTCCCTGCCCCCCAC CCTCCTCCCTGCCCCCTTACTCTCCTCCCTGCCCCTTAACCCTCCTCCCT GCTCCCCTCACCCTCCCTCCCTGTCCCCTCACCCTCCTCCCTCACCCTCC CCCTCCTCCCTCCCCCGTCCCTCCTCCCTCCCCCTCACCCTTCTCCCTGC CCCCTCACCCCCCTCCCTGCCCCTCACCCTCCTCCCTGCCCCTCACCCTC CTCCCTGCCCCTCACCCTCCTCCCTGCCCCTTCATCCTCCTCCCTACCCC TCACCCTCCTCCCTGCCCCTTCATCCTCCTCCCTGCCCCTTCACCCTCCT CCCTGCTCCCCTCACCCTCCTCCCTGCTCCCTCACCCTCCTCCCTGCCCC CTCACCCTCCTCCCTGCCCCCCTCACCCTCCTCCTGCCCCCTCACCCTCC TCCCTGCCCCCTCACCCTCCTCTCTTTCCCCTCACCCTCCTCCCTGCCCC CTCACCCTCCTCTCTTTCCCCTCACCTTCCTCCCTGCCCCTTCACCCGCC TCCCTGCCCACTCACCCTCCTCCCTGCCCCCGCACCTTCTTCCCTGCCCC CTCACCCTCCTCCCTGCCCCTCACTCTCCTCCCTAACTTGTTCACCCTCC TCCCTACCCCTTCATTCTCCTCCCTGCCCCCCACCCTCCTCCCTG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(666): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATATAAATATATATAATTTTATATAAATATATAAAT ATATAAAATTTTATATATTTATATATAAACATATATAACTTTATATATAA ATATATATAATTTTATATATAAATATATATAATTTTATATATTTATATAT AAATTTAATTTTATGTATAAATATATATAATTATATATATATTTATATAT AATTTTATATATAAATATATATAATTATATATATTTATGTATAAATATAA TTTTATATATAAATATATATAATTTTATATATATAATTTTATATATAAAT ATATATAATTATATATTTATATATAAATATATATAATTTTATATATAATA TATATAATTTTATATATTATATATAAATATATATATAATTATATATAAAT ATATAAAATTATATATAAATATATATAATTATATATAAATATATATAATT TATATATAAATATGTATAATTTTATATATATAAATAGATATAATTTTATA TATTTATTTATATAAATTTTATATATTTATATAAATAAATATATATTTAT ATATAAAAATTTATATACAAATATATATAAATATATACAAATATATATAT AAATTTATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02897.hp2 HG03471.hp1 others(1): Show HG02809.hp2 HG02897.hp2 HG03471.hp1 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0001c0023 others(1): Show a0001c0001 a0001c0005 a0001c0023 a0003c0019	a0001c0001t0003 a0001c0005t0010 a0001c0023t0004 others(1): Show a0001c0001t0003 a0001c0005t0010 a0001c0023t0004 a0003c0019t0002	a0001c0001t0003g0006 a0001c0005t0010g0085 a0001c0023t0004g0041 others(1): Show a0001c0001t0003g0006 a0001c0005t0010g0085 a0001c0023t0004g0041 a0003c0019t0002g0031	4	116	0.0345	673	c.56- others(690): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATATAAATATATATA ATTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAA CATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATA TAATTTTATATATTTATATATAAATTTAATTTTATGTATAAATATATATA ATTATATATATATTTATATATAATTTTATATATAAATATATATAATTATA TATATTTATGTATAAATATAATTTTATATATAAATATATATAATTTTATA TATATAATTTTATATATAAATATATATAATTATATATTTATATATAAATA TATATAATTTTATATATAATATATATAATTTTATATATTATATATAAATA TATATATAATTATATATAAATATATAAAATTATATATAAATATATATAAT TATATATAAATATATATAATTTATATATAAATATGTATAATTTTATATAT ATAAATAGATATAATTTTATATATTTATTTATATAAATTTTATATATTTA TATAAATAAATATATATTTATATATAAAAATTTATATACAAATATATATA AATATATACAAATATATATATAAATTTATATAAATATATATAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(666): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATATAAATATATATAATTTTATATAAATATATAAAT ATATAAAATTTTATATATTTATATATAAACATATATAACTTTATATATAA ATATATATAATTTTATATATAAATATATATAATTTTATATATTTATATAT AAATTTAATTTTATGTATAAATATATATAATTATATATATATTTATATAT AATTTTATATATAAATATATATAATTATATATATTTATGTATAAATATAA TTTTATATATAAATATATATAATTTTATATATATAATTTTATATATAAAT ATATATAATTATATATTTATATATAAATATATATAATTTTATATATAATA TATATAATTTTATATATTATATATAAATATATATATAATTATATATAAAT ATATATAATTATATATAAATATATATAATTATATATAAATATATATAATT TATATATAAATATGTATAATTTTATATATATAAATAGATATAATTTTATA TATTTATTTATATAAATTTTATATATTTATATAAATAAATATATATTTAT ATATAAAAATTTATATACAAATATATATAAATATATACAAATATATATAT AAATTTATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0081 a0001c0001t0004g0081	1	116	0.0086	673	c.56- others(690): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATATAAATATATATA ATTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAA CATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATA TAATTTTATATATTTATATATAAATTTAATTTTATGTATAAATATATATA ATTATATATATATTTATATATAATTTTATATATAAATATATATAATTATA TATATTTATGTATAAATATAATTTTATATATAAATATATATAATTTTATA TATATAATTTTATATATAAATATATATAATTATATATTTATATATAAATA TATATAATTTTATATATAATATATATAATTTTATATATTATATATAAATA TATATATAATTATATATAAATATATATAATTATATATAAATATATATAAT TATATATAAATATATATAATTTATATATAAATATGTATAATTTTATATAT ATAAATAGATATAATTTTATATATTTATTTATATAAATTTTATATATTTA TATAAATAAATATATATTTATATATAAAAATTTATATACAAATATATATA AATATATACAAATATATATATAAATTTATATAAATATATATAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
COL22A1_chr8_138583235_138919041	138692270	T T	TTGTGGAG others(666): Show TTGTGGAGGTGTGTGTATGTGTGTAATGTGTGTATGCATGTTTGTGGAGG TGTATGTGTGGAGGTGTGTGTGTATGTGTGCATGTTTGTGGAGGTGTATG CATGCGTGTGCATTTGTGAAGGTGTGTGAGTGAGTGTGTGCACGTTTGTG GAGGTGTGTGTGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTGTATG TGTGTAATGTGTGTATGCACGTTTGTGGAGGTGTATGTGTGGAGGTGTGT GTGTATGTGTGCAGTGCATGTGTGCATGTTTGTGGAGGTGTATGCATGCG TGTGCATTTGTGAAGGTGTGTGAGTGTGTGCACGTTTGTGGAGGTGTGTG TGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTATATGTGTACACATG CGTGTGTGCGTTTGTGGAGGTGTATGTGTGTACGTGTGTGTGCATGTTTG TGGTGGTATGTGTATGTGTGGAGGTGTGTATGTGTGCACGTGCATGTGTG CATGTTTGTGGAGGTGTATGTGTGCACGTGCATGCACATTTGTGGACGTG TGTGCGTGTGTGTGCATGATTGTGGAGGTGTGTGTGCGCGTGCGTGTATG CATGTTTGTGGAGGTGTGTGTGTACATGTGTGTATGCATGTTTGTGGAGG TGTATGTGTGGAGGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01106.hp1 HG01070.hp2 HG01106.hp1	a0002 a0004 a0002 a0004	a0002c0007 a0004c0032 a0002c0007 a0004c0032	a0002c0007t0001 a0004c0032t0001 a0002c0007t0001 a0004c0032t0001	a0002c0007t0001g0137 a0004c0032t0001g0115 a0002c0007t0001g0137 a0004c0032t0001g0115	2	158	0.0127	673	c.275 others(692): Show c.2754+1375_2754+1376insTACACACACACCTCCACACATACACC TCCACAAACATGCATACACACATGTACACACACACCTCCACAAACATGCA TACACGCACGCGCACACACACCTCCACAATCATGCACACACACGCACACA CGTCCACAAATGTGCATGCACGTGCACACATACACCTCCACAAACATGCA CACATGCACGTGCACACATACACACCTCCACACATACACATACCACCACA AACATGCACACACACGTACACACATACACCTCCACAAACGCACACACGCA TGTGTACACATATACACACCTCCACAAACATGCACACACACACGTGCACA CACACCTCCACAAACGTGCACACACTCACACACCTTCACAAATGCACACG CATGCATACACCTCCACAAACATGCACACATGCACTGCACACATACACAC ACACCTCCACACATACACCTCCACAAACGTGCATACACACATTACACACA TACACACACCTCCACAAACATGCACACACACACGTGCACACACACCTCCA CAAACGTGCACACACTCACTCACACACCTTCACAAATGCACACGCATGCA TACACCTCCACAAACATGCACACATACACACACACCTCCACACATACACC TCCACAAACATGCATACACACATTACACACATACACACACCTCCACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	35/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138692270	T T	TTGTGGAG others(666): Show TTGTGGAGGTGTGTGTATGTGTGTAATGTGTGTATGCATGTTTGTGGAGG TGTATGTGTGGAGGTGTGTGTGTATGTGTGCATGTTTGTGGAGGTGTATG CATGCGTGTGCATTTGTGAAGGTGTGTGAGTGAGTGTGTGCACGTTTGTG GAGGTGTGTGTGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTGTATG TGTGTAATGTGTGTATGCACGTTTGTGGAGGTGTATGTGTGGAGGTGTGT GTGTATGTGTGCAGTGCATGTGTGCATGTTTGTGGAGGTGTATGCATGCG TGTGCATTTGTGAAGGTGTGTGAGTGTGTGCACGTTTGTGGAGGTGTGTG TGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTATATGTGTACACATG CGTGTGTGCGTTTGTGGAGGTGTATGTGTGTACGTGTGTGTGCATGTTTG TGGTGGTATGTGTATGTGTGGAGGTGTGTATGTGTGCACGTGCATGTGTG CATGTTTGTGGAGGTGTATGTGTGCACGTGCATGCACATTTGTGGACGTG TGTGCGTGTGTGTGCATGTTTGTGGAGGTGTGTGTGCGCGTGCGTGTATG CATGTTTGTGGAGGTGTGTGTGTACATGTGTGTATGCATGTTTGTGGAGG TCTATGTGTGGAGGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp2 HG02622.hp2 HG02723.hp2	a0002 a0002	a0002c0009 a0002c0025 a0002c0009 a0002c0025	a0002c0009t0001 a0002c0025t0004 a0002c0009t0001 a0002c0025t0004	a0002c0009t0001g0104 a0002c0025t0004g0103 a0002c0009t0001g0104 a0002c0025t0004g0103	2	158	0.0127	673	c.275 others(692): Show c.2754+1375_2754+1376insTACACACACACCTCCACACATAGACC TCCACAAACATGCATACACACATGTACACACACACCTCCACAAACATGCA TACACGCACGCGCACACACACCTCCACAAACATGCACACACACGCACACA CGTCCACAAATGTGCATGCACGTGCACACATACACCTCCACAAACATGCA CACATGCACGTGCACACATACACACCTCCACACATACACATACCACCACA AACATGCACACACACGTACACACATACACCTCCACAAACGCACACACGCA TGTGTACACATATACACACCTCCACAAACATGCACACACACACGTGCACA CACACCTCCACAAACGTGCACACACTCACACACCTTCACAAATGCACACG CATGCATACACCTCCACAAACATGCACACATGCACTGCACACATACACAC ACACCTCCACACATACACCTCCACAAACGTGCATACACACATTACACACA TACACACACCTCCACAAACATGCACACACACACGTGCACACACACCTCCA CAAACGTGCACACACTCACTCACACACCTTCACAAATGCACACGCATGCA TACACCTCCACAAACATGCACACATACACACACACCTCCACACATACACC TCCACAAACATGCATACACACATTACACACATACACACACCTCCACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	35/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138692270	T T	TTGTGGAG others(666): Show TTGTGGAGGTGTGTGTATGTGTGTAATGTGTGTATGCATGTTTGTGGAGG TGTATGTGTGGAGGTGTGTGTGTATGTGTGCATGTTTGTGGAGGTGTATG CATGCGTGTGCATTTGTGAAGGTGTGTGAGTGAGTGTGTGCACGTTTGTG GAGGTGTGTGTGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTGTATG TGTGTAATGTGTGTATGCACGTTTGTGGAGGTGTATGTGTGGAGGTGTGT GTGTATGTGTGCAGTGCATGTGTGCATGTTTGTGGAGGTGTATGCATGCG TGTGCATTTGTGAAGGTGTGTGAGTGTGTGCACGTTTGTGGAGGTGTGTG TGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTATATGTGTACACATG CGTGTGTGCGTTTGTGGAGGTGTATGTGTGTACGTGTGTGTGCATGTTTG TGGTGGTATGTGTATGTGTGGAGGTGTGTATGTGTGCACGTGCATGTGTG CATGTTTGTGGAGGTGTATGTGTGCACGTGCATGCACATTTGTGGACGTG TGTGCGTGTGTGTGCATGTTTGTGGAGGTGTGTGTGCGCGTGCGTGTATG CATGTTTGTGGAGGTGTGTGTGTACATGTGTGTATGCATGTTTGTGGAGG TGTATGTGTGGAGGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01081.hp2 others(34): Show HG00280.hp1 HG01070.hp1 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01255.hp1 HG01361.hp1 HG01433.hp1 HG01884.hp2 HG02055.hp2 HG02145.hp2 HG02559.hp2 HG02615.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03492.hp2 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA19030.hp2 NA19240.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0009 a0011 a0012 a0013	a0001c0016 a0002c0003 a0002c0004 others(16): Show a0001c0016 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0009 a0002c0011 a0002c0022 a0002c0023 a0002c0025 a0002c0029 a0002c0059 a0002c0060 a0004c0019 a0004c0041 a0009c0047 a0011c0043 a0012c0050 a0013c0049	a0001c0016t0001 a0002c0003t0001 a0002c0003t0003 others(26): Show a0001c0016t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0007 a0002c0004t0001 a0002c0004t0004 a0002c0005t0001 a0002c0005t0002 a0002c0005t0003 a0002c0007t0001 a0002c0007t0003 a0002c0007t0008 a0002c0009t0001 a0002c0009t0002 a0002c0011t0001 a0002c0011t0012 a0002c0022t0002 a0002c0023t0001 a0002c0025t0003 a0002c0029t0002 a0002c0059t0001 a0002c0060t0004 a0004c0019t0001 a0004c0019t0014 a0004c0041t0002 a0009c0047t0001 a0011c0043t0001 a0012c0050t0002 a0013c0049t0006	a0001c0016t0001g0063 a0002c0003t0001g0020 a0002c0003t0001g0084 others(34): Show a0001c0016t0001g0063 a0002c0003t0001g0020 a0002c0003t0001g0084 a0002c0003t0001g0112 a0002c0003t0003g0001 a0002c0003t0003g0011 a0002c0003t0007g0157 a0002c0004t0001g0044 a0002c0004t0001g0127 a0002c0004t0004g0094 a0002c0005t0001g0074 a0002c0005t0002g0047 a0002c0005t0002g0092 a0002c0005t0003g0005 a0002c0005t0003g0007 a0002c0007t0001g0111 a0002c0007t0003g0010 a0002c0007t0008g0030 a0002c0009t0001g0072 a0002c0009t0001g0119 a0002c0009t0002g0089 a0002c0011t0001g0019 a0002c0011t0012g0139 a0002c0022t0002g0028 a0002c0023t0001g0036 a0002c0023t0001g0117 a0002c0025t0003g0013 a0002c0029t0002g0057 a0002c0059t0001g0051 a0002c0060t0004g0106 a0004c0019t0001g0130 a0004c0019t0014g0154 a0004c0041t0002g0042 a0009c0047t0001g0098 a0011c0043t0001g0056 a0012c0050t0002g0110 a0013c0049t0006g0078	37	158	0.2342	673	c.275 others(692): Show c.2754+1375_2754+1376insTACACACACACCTCCACACATACACC TCCACAAACATGCATACACACATGTACACACACACCTCCACAAACATGCA TACACGCACGCGCACACACACCTCCACAAACATGCACACACACGCACACA CGTCCACAAATGTGCATGCACGTGCACACATACACCTCCACAAACATGCA CACATGCACGTGCACACATACACACCTCCACACATACACATACCACCACA AACATGCACACACACGTACACACATACACCTCCACAAACGCACACACGCA TGTGTACACATATACACACCTCCACAAACATGCACACACACACGTGCACA CACACCTCCACAAACGTGCACACACTCACACACCTTCACAAATGCACACG CATGCATACACCTCCACAAACATGCACACATGCACTGCACACATACACAC ACACCTCCACACATACACCTCCACAAACGTGCATACACACATTACACACA TACACACACCTCCACAAACATGCACACACACACGTGCACACACACCTCCA CAAACGTGCACACACTCACTCACACACCTTCACAAATGCACACGCATGCA TACACCTCCACAAACATGCACACATACACACACACCTCCACACATACACC TCCACAAACATGCATACACACATTACACACATACACACACCTCCACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	35/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138692270	T T	TTGTGGAG others(666): Show TTGTGGAGGTGTGTGTATGTGTGTAATGTGTGTATGCATGTTTGTGGAGG TGTATGTGTGGAGGTGTGTGTGTATGTGTGCATGTTTGTGGAGGTGTATG CATGCGTGTGCATTTGTGAAGGTGTGTGAGTGAGTGTGTGCACGTTTGTG GAGGTGTGTGTGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTGTATG TGTGTAATGTGTGTATGCACGTTTGTGGAGGTGTCTGTGTGGAGGTGTGT GTGTATGTGTGCAGTGCATGTGTGCATGTTTGTGGAGGTGTATGCATGCG TGTGCATTTGTGAAGGTGTGTGAGTGTGTGCACGTTTGTGGAGGTGTGTG TGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTATATGTGTACACATG CGTGTGTGCGTTTGTGGAGGTGTATGTGTGTACGTGTGTGTGCATGTTTG TGGTGGTATGTGTATGTGTGGAGGTGTGTATGTGTGCACGTGCATGTGTG CATGTTTGTGGAGGTGTATGTGTGCACGTGCATGCACATTTGTGGACGTG TGTGCGTGTGTGTGCATGTTTGTGGAGGTGTGTGTGCGCGTGCGTGTATG CATGTTTGTGGAGGTGTGTGTGTACATGTGTGTATGCATGTTTGTGGAGG TGTATGTGTGGAGGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0076 a0002c0003t0001g0076	1	158	0.0063	673	c.275 others(692): Show c.2754+1375_2754+1376insTACACACACACCTCCACACATACACC TCCACAAACATGCATACACACATGTACACACACACCTCCACAAACATGCA TACACGCACGCGCACACACACCTCCACAAACATGCACACACACGCACACA CGTCCACAAATGTGCATGCACGTGCACACATACACCTCCACAAACATGCA CACATGCACGTGCACACATACACACCTCCACACATACACATACCACCACA AACATGCACACACACGTACACACATACACCTCCACAAACGCACACACGCA TGTGTACACATATACACACCTCCACAAACATGCACACACACACGTGCACA CACACCTCCACAAACGTGCACACACTCACACACCTTCACAAATGCACACG CATGCATACACCTCCACAAACATGCACACATGCACTGCACACATACACAC ACACCTCCACACAGACACCTCCACAAACGTGCATACACACATTACACACA TACACACACCTCCACAAACATGCACACACACACGTGCACACACACCTCCA CAAACGTGCACACACTCACTCACACACCTTCACAAATGCACACGCATGCA TACACCTCCACAAACATGCACACATACACACACACCTCCACACATACACC TCCACAAACATGCATACACACATTACACACATACACACACCTCCACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	35/64			chr8	TogoVar
CTU2_chr16_88701503_88720396	88712963	G G	GCCCCCCT others(666): Show GCCCCCCTTCCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGG GCCCTGACCCCCACTCATGCCCTGAGAGCCCCCCTTCCCCGGGCCCTGAC CCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC GAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCTGAGAGCCCC CTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATGCCCCCGAGAGCCCCCTTCCCCGGGCCCCTGACCCCCAC TCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCC CGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGTCC TGACCCCCACTCATACCCGAGAGC	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	418	0.0024	673	c.737 others(686): Show c.737+63_737+64insCTTCCCCCGGGCCCTGACCCCCACTCATGCCC CTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATGCCCCCGAGAGCCCCCTTCCCCGGGCC CCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAG AGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCC TTCCCCGGGTCCTGACCCCCACTCATACCCGAGAGCCCCCC	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CUL4A_chr13_113204613_113272108	113232154	G G	GTCACCAC others(666): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACCACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCA CCACCATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACC ACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTG TCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCAC CATTACTGCTGCCACCACTACCTGCCCACCACCATTACTGTCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTC ACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	396	0.0025	673	c.513 others(690): Show c.513-1023_513-1022insTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACCACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGC CCACCACTATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTG TCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCCAC CACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(666): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGATGGAAGGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGG AGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGG AGGGGGTGGGGAGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGA AGGGGAAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGAAGGGG AAGGGGAGGGGGAGGGGAAGGGCGGAGACAGAGGGGAGGGGGAGGGGAAG GGGGAGACAGAGGGGAGGGGGCAA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	216	0.0046	673	c.923 others(692): Show c.923-33079_923-33078insTTGCCCCCTCCCCTCTGTCTCCCCCT TCCCCTCCCCCTCCCCTCTGTCTCCGCCCTTCCCCTCCCCCTCCCCTTCC CCTTCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTC CCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCTCCCCACCCCCTCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTTCCATCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCC CCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTC CCTCCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCC TTCATTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DNAH17_chr17_78418697_78582396	78438444	A A	AGGAGGAG others(666): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGG AGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGG AGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAG GAGGGGGAGGAGGAGGAGGAGGAGGAGGAGGGGGAGGGGGAGGAGGGGGA GGAGGGAGGAGGAGGAGGGGGGAGGAGGGAGGAGGGAGGAGGGGGAGGAG GGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAAGAGGG GGGAGGAGGAGGAAGAGGGGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAG GAGGAGGGTGGAGGAGGAGGGAGGAGGAGGGGAGGAGGAGGGAGGAGGGA GGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAA GGAGGAGGGAGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAG GAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGG AGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGG AGGGAGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0148 a0003c0006t0001g0148	1	252	0.0040	673	c.118 others(692): Show c.11806-577_11806-576insCTCCTCCTCCTCCTCCTCCTCCCTCC TCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCC CTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCT CCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTC CTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCTCCCTCCTCCTT CCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTC CCTCCTCCCTCCTCCTCCCCTCCTCCTCCCTCCTCCTCCACCCTCCTCCT CCCTCCTCCTCCTCCCTCCTCCTCCTCCCCCCTCTTCCTCCTCCTCCCCC CTCTTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCT CCTCCCCCTCCTCCCTCCTCCCTCCTCCCCCCTCCTCCTCCTCCCTCCTC CCCCTCCTCCCCCTCCCCCTCCTCCTCCTCCTCCTCCTCCTCCCCCTCCT CCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCC CTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DOC2B_chr17_137789_186650	141114	T T	TGAGGGGA others(666): Show TGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAAC ATGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGGGGGGAC CTTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAG GGGACCTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGAACATGGG TGGGACCTTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGG TGAGGAGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGACC TGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGA ACATGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGGGGGG ACCTTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTG AGGGGACCTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGAACATG GGTGGGACCTTGGTGAGGGGACCTGGTGAGGGGAACATGGGGGGGACCTT GGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGG ACCTGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGA GGGGACCTGGTGAGGGGACATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0268 a0001c0002t0016g0268	1	339	0.0030	673	c.63 others(684): Show c.6326_*6327insCCCATGTCCCCTCACCAGGTCCCCTCACCAGGTC CCCTCACCAAGGCTCCCCACCCATGTTCCCCTCACCAGGTCCTCCTCACC AAGGTCCCACCCATGTTCCCCTCACCAGGTCCTCCTCACCAAGGTCCCCC CCATGTTCCCCTCACCAGGTCCCCTCACCAAGGTCCCACCCATGTTCCCC TCACCAGGTCCCCTCACCAGGTCCCCTCACCAGGTCCCCTCACCAGGTCC TCCTCACCATGCTCCCCTCACCATGTCCCCTCACCAAGGTCCCCCCCAGG TCCTCCTCACCAGGTCCCCTCACCAAGGTCCCACCCATGTTCCCCTCACC AGGTCCTCCTCACCAAGGTCCCCCCCATGTCCCCTCACCAGGTCCCCTCA CCAAGGTCCCACCCATGTTCCCCTCACCAGGTCCTCCTCACCAAGGTCCC ACCCATGTTCCCCTCACCAGGTCCCCTCACCAAGGTCCCACCCATGTTCC CCTCACCAGGTCCCCTCACCAGGTCCCCTCACCAGGTCCCCTCACCAGGT CCTCCTCACCATGCTCCCCTCACCATGTCCCCTCACCAAGGTCCCCCCCA GGTCCTCCTCACCAGGTCCCCTCACCAAGGTCCCACCCATGTTCCCCTCA CCAGGTCCTCCTCACCAAGGTCCCACCCATGTTCCCCTC	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1674		chr17	TogoVar
DPEP1_chr16_89608642_89643433	89634511	C C	CTCCTCCT others(666): Show CTCCTCCTCTTCCTACTCCTAACCCGAACACAAGGACAAGGCCAGGAACC GGGCCCCTGGCCGAAGGGCCCAGGCCGGCCACGGGACAAGGACGGGCTCC AGGGCCAGACAAGAAGGGCAAGGCCCGGCACTAACCCCAACCAACTCCAA ACCCTTCCCTTCCCCTTCCTTCTCCTTTCCCTCCTTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCATTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCC TTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCC TTCTCCTTTCTCTTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	250	0.0040	673	c.105 others(690): Show c.105-1397_105-1396insTCCTCCTCTTCCTACTCCTAACCCGAAC ACAAGGACAAGGCCAGGAACCGGGCCCCTGGCCGAAGGGCCCAGGCCGGC CACGGGACAAGGACGGGCTCCAGGGCCAGACAAGAAGGGCAAGGCCCGGC ACTAACCCCAACCAACTCCAAACCCTTCCCTTCCCCTTCCTTCTCCTTTC CCTCCTTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTT CCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCATTCCTTCTCCTTTCCCCTTCC TTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCTCTTCCTTCCCTTT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
EFNA2_chr19_1280873_1306431	1282324	G G	GGGGGAAG others(666): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAG GGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGTG TGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGG AGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGT GTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAG GGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGA GGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAA GGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGA GGAAGGAAGGGAGGGGGTATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0002 a0001c0001t0069g0002	1	294	0.0034	673	c.-38 others(684): Show c.-3845_-3844insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGAGGGAGGGAGGAGG GTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAG GGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGG AGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGA GGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAG GGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGG GTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGA GGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGA GGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTG TAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3548		chr19	TogoVar
EFNA2_chr19_1280873_1306431	1282324	G G	GGGGGAAG others(666): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGAGGAG GGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGTG TGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGG AGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGT GTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAG GGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGA GGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAA GGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGA GGAAGGAAGGGAGGGGGTATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	294	0.0034	673	c.-38 others(684): Show c.-3845_-3844insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAG GGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGG AGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGA GGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAG GGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGG GTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGA GGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGA GGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTG TAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3548		chr19	TogoVar
EFNA2_chr19_1280873_1306431	1282324	G G	GGGGGAAG others(666): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGGGGAGGGTGTGAAGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGTG TGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGG AGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGT GTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAG GGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGA GGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAA AGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGA GGAAGGAAGGGAGGGGGTATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0060 a0001c0001t0004g0060	1	294	0.0034	673	c.-38 others(684): Show c.-3845_-3844insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGAAGAGGGAGGGGAGGAG GGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGG AGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGA GGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAG GGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGG GTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGA GGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGA GGGTGTGAAGGGGAAAGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTG TAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3548		chr19	TogoVar
EFNA2_chr19_1280873_1306431	1282324	G G	GGGGGAAG others(666): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGT GTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAG GAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGAGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGT GTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAG GGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGA GGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAA GGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGA GGAAGGAAGGGAGGGGGTATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0072 a0001c0001t0039g0072	1	294	0.0034	673	c.-38 others(684): Show c.-3845_-3844insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGA GGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGG GAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGA GGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAG GGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGG GTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGA GGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGA GGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTG TAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3548		chr19	TogoVar
EFNA2_chr19_1280873_1306431	1282390	G G	GGGGAGAA others(666): Show GGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAGGAAGGGAGGAGGGAGG GGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGGGAGGGAAGTAGGGAGG GGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAGGGGAGGTGGGAGGGGA GGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGGGGAGGGTGTGAA GGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGA GGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTG TGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGG AGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGA GGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTG AAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAGGAGGGAGGGGAGGA TTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGG GGTATTAATGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAG TATGAAGGGGGAAGGAAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	294	0.0034	673	c.-37 others(684): Show c.-3779_-3778insGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAGG AAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGGG AGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAGG GGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAG GGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGTG TGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGG AGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGT GTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAG GGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGA GGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAA GGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGA GGAAGGAAGGGAGGGGGTATTAATGGGGAAGAGAGTGGGAAGGGGGAGGA GGGAGGGGAGGGTAGTATGAAGGGGGAAGGAAGGAGGGA	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3482		chr19	TogoVar
FAM174C_chr19_1270530_1284228	1282324	G G	GGGGGAAG others(666): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGGGGAGGGTGTGAAGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGTG TGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGG AGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGT GTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAG GGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGA GGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAA AGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGA GGAAGGAAGGGAGGGGGTATTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	254	0.0039	673	c.35 others(684): Show c.3547_*3548insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGAAGAGGGAGGGGAGGAG GGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGG AGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGA GGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAG GGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGG GTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGA GGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGA GGGTGTGAAGGGGAAAGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTG TAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3097		chr19	TogoVar
FAM174C_chr19_1270530_1284228	1282324	G G	GGGGGAAG others(666): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGT GTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGAGGAAGGAGGGGAGG AGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGT GTGAAGGGAGGAAGGAGGGGAGGACAGGGAGGAGGGTGTGAAGGGAGGAG GGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGA GGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAA GGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGA GGAAGGAAGGGAGGGGGTATTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	254	0.0039	673	c.35 others(684): Show c.3547_*3548insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGA GGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGG AGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGA GGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAG GGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGACAGGGAGGAGG GTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGA GGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGA GGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTG TAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3097		chr19	TogoVar
FAM174C_chr19_1270530_1284228	1282324	G G	GGGGGAAG others(666): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGT GTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAG GAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGAGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGT GTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAG GGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGA GGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAA GGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGA GGAAGGAAGGGAGGGGGTATTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG02717.hp2 HG00733.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	254	0.0079	673	c.35 others(684): Show c.3547_*3548insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGA GGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGG GAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGA GGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAG GGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGG GTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGA GGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGA GGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTG TAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3097		chr19	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(666): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATATTTATATA CATATAAATATATATTTATATACATATAAATATATATATTTATATACATA TAAATATATATTTACATACATATAAATATATATTTACATACATATAAATA TATATTTACATACATATAAATATATACATTTATATACATATAAATATATA CATATATACATATAAATATATATTTATATACATATAAATATATATTTATA TACATATAAATATATATATTTATATATATTTATATATATATAAATATATA TATATTTGTATATATATATAAATATATATATATTTATATATATATAAATA TATATATATTTATATATATATACATATAAATATATATTTATATACATATA AATATATAATTATATACATATAAATATATAATTATATACATATAAATATA TATAATTATATACATATAAATATATATTTATATACATATAAATTTATATA CATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	292	0.0034	673	c.49 others(684): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTTA TATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATG TATGTAAATATATATTTATATGTATGTAAATATATATTTATATGTATATA AATATATATATTTATATGTATATAAATATATATTTATATGTATATAAATA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TTTATATGTATATAAATATATATTTATATGTATATAAATATATATATTTA TATGTATATAAATATATATTTATATGTATATAAATATATATATTTATATG TATATAAATATATATATTTATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FOXQ1_chr6_1307098_1319758	1317225	C C	CCCTCCCC others(666): Show CCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCC CCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCC CACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCCTCCCCCCGCCCACCCC CCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCCTCCTCC CGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCC CCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCACCCCCCCAGCCTA CCCCTCCCCCCGCCCACCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCTC CCCCCGCCCAGCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCAC CCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCACCCATCC CTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCCTCCC GCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCC CCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCCCCCTCCA GCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCC CCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0000 a0002c0005t0006g0000	1	406	0.0025	673	c.33 others(684): Show c.3309_*3310insCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTC CAGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCT ACCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCCT CCCCCCGCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGC CCACCCCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCA CCCCCTCCTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCC CACCCCCCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCTCCCC CCCAGCCTACCCCTCCCCCCGCCCAGCCCTCCTCCCGCCCCCCTCCAGCC TACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCC TCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCC GCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCC CCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCTC CTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCC CCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2468		chr6	TogoVar
GALNT9_chr12_132191372_132334589	132241351	C C	CCTTCCCG others(666): Show CCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTC CCGGGACCCTCCCTATACCAATTACACACACAACACACACCCTTCCAGGG GCCCTCCCTATACCCATTACACACATGCCACACCCCCTTCCCAGGGCCCT CCCTATCCCCATTACACACACAACACACCCCCTTCCAGGGGCCCTCCCTA TACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCC ATTACACACACACCACACACCCTTCCAGGGGCCCTCCCTATACCCATTAC ACACACGCCACACACCCTTCCCTTGGCCGTCCCTATACCCATTACACACA CGCCACACCACCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCA CACACCCTTACAGGGGCCCTCCCTATACCCATTACACACACGCCACACAC CCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTC CCAGGGACCTCCCTATCCCCATTACACACACGCCACACCCCCTTCCCGGG GCCCTCCCAATACCCATTAAACACACAACACACCCCCTTCCCGGGGCCCT CCCTATCCCCATTAAACACACAACACACCCCCTTCCCAGGGCCCTCCCTA TACCCATTACACACACAACACACA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	183	0.0055	673	c.107 others(692): Show c.1077+6558_1077+6559insTGTGTGTTGTGTGTGTAATGGGTATA GGGAGGGCCCTGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAG GGCCCCGGGAAGGGGGTGTGTTGTGTGTTTAATGGGTATTGGGAGGGCCC CGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGTCCCTGGGA AGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGT GTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGTAAGGGTGTGTG GCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGTGGTGTGGCGTG TGTGTAATGGGTATAGGGACGGCCAAGGGAAGGGTGTGTGGCGTGTGTGT AATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGTAATGG GTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATA GGGAGGGCCCCTGGAAGGGGGTGTGTTGTGTGTGTAATGGGGATAGGGAG GGCCCTGGGAAGGGGGTGTGGCATGTGTGTAATGGGTATAGGGAGGGCCC CTGGAAGGGTGTGTGTTGTGTGTGTAATTGGTATAGGGAGGGTCCCGGGA AGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241396	C C	CCTTCCCG others(666): Show CCTTCCCGGGACCCTCCCTATACCAATTACACACACAACACACACCCTTC CAGGGGCCCTCCCTATACCCATTACACACATGCCACACCCCCTTCCCAGG GCCCTCCCTATCCCCATTACACACACAACACACCCCCTTCCAGGGGCCCT CCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTA TACCCATTACACACACACCACACACCCTTCCAGGGGCCCTCCCTATACCC ATTACACACACGCCACACACCCTTCCCTTGGCCGTCCCTATACCCATTAC ACACACGCCACACCACCTTCCCGGGGCCCTCCCTATACCCATTACACACA CGCCACACACCCTTACAGGGGCCCTCCCTATACCCATTACACACACGCCA CACCCCCTTCCTGGGGACCTCCCTATACCCATTACACACACGCCACACAC CCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTC CCAGGGACCTCCCTATCCCCATTACACACACGCCACACCCCCTTCCCGGG GCCCTCCCTATACCCATTAAACACACAACACACCCCCTTCCCGGGGCCCT CCCTATCCCCATTAAACACACAACACACCCCCTTCCCAGGGCCCTCCCTA TACCCATTACACACACAACACACA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00733.hp2 NA18747.hp2 others(7): Show HG00609.hp1 HG00733.hp2 NA18747.hp2 NA18952.hp1 NA18966.hp2 NA18971.hp1 NA18980.hp1 NA19009.hp2 NA19067.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0002c0032	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(4): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 a0001c0008t0002 a0001c0009t0002 a0002c0032t0002	a0001c0002t0001g0025 a0001c0002t0001g0070 a0001c0003t0001g0123 others(7): Show a0001c0002t0001g0025 a0001c0002t0001g0070 a0001c0003t0001g0123 a0001c0004t0001g0056 a0001c0004t0001g0076 a0001c0004t0001g0157 a0001c0007t0001g0159 a0001c0008t0002g0182 a0001c0009t0002g0169 a0002c0032t0002g0167	10	183	0.0546	673	c.107 others(692): Show c.1077+6513_1077+6514insTGTGTGTTGTGTGTGTAATGGGTATA GGGAGGGCCCTGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAG GGCCCCGGGAAGGGGGTGTGTTGTGTGTTTAATGGGTATAGGGAGGGCCC CGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGTCCCTGGGA AGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGT GTGTGGCGTGTGTGTAATGGGTATAGGGAGGTCCCCAGGAAGGGGGTGTG GCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGTAAGGGTGTGTGGCGTG TGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGTGGTGTGGCGTGTGTGT AATGGGTATAGGGACGGCCAAGGGAAGGGTGTGTGGCGTGTGTGTAATGG GTATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGTAATGGGTATA GGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAG GGCCCCTGGAAGGGGGTGTGTTGTGTGTGTAATGGGGATAGGGAGGGCCC TGGGAAGGGGGTGTGGCATGTGTGTAATGGGTATAGGGAGGGCCCCTGGA AGGGTGTGTGTTGTGTGTGTAATTGGTATAGGGAGGGTCCCGGGAAG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)