Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
WDR64_chr1_241647281_241807777	241675052	T T	TTCCTGCC others(820): Show TTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT CCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCT CCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTC CCTCCTTCCTCCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCC TCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTCCCT CCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTCCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCC TCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCT CCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCT CCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTC CCTCCCTCCTGCCTCCCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0170 a0001c0002t0002g0170	1	326	0.0031	827	c.483 others(842): Show c.483+306_483+307insCCTGCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTC CTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCC CTCCCTCCTGCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCT CCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTC CCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCC CTCCTTCCTCCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTC CCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTC CTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCC CTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCT	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(820): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCC CCTTCCCCCCTTCCTCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCCTTTCCCCCTTCCCCCCTTTTCCCCCTTCCCCCCTTTCCCCCCTT CCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCC CCCTTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	246	0.0041	827	c.-10 others(844): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCGTTCCCCCTTCCCCCCTTCCCCCCTTCCTCCTTCCCCCCTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTTCCC CCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC CTTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCC CTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCC TTCCCCCCTTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZFAT_chr8_134472788_134718031	134498388	A A	ACTGGGAT others(820): Show ACTGGGATGCCCCCGTTGCTGGTTACACACAGAGCCTGATTTGGTAGGGT CGGGGTGGAGCTGGGATGCCCCCGTTGCTGGTTACACACAGAGCCTGATT TGGTAGGGTCGGGGTGGAACTGGGATGCCCCCGTTGCTGGTTACACACAG AGCCTGATTTGGTAGGGTCGGGGTGGAGCTGGGATGCCCCCGTTGCTGGT TACACACAGAGCCTGATTTGGTAGGGTCGGGGTGGAGCTGGGATGCCCCC GTTGCTGGTTACACACAGAGCCTGATTTGGTAGGGTCGGGGTGGAGCTGG GATACCCCCGTTGCTGGTTACACACACAGCCTGATTTGGTAGGGTTGGGG TGGAGCTGGGATGCCCCCGTTGCTGGTTACACACAGAGCCTGATTTGGTA GGGTCGGGGTGGAGCTGGGATGCCCCCCGTTGCTGGTTACACACAGAGCC TGATTTGGTAGGGTCGGGGTGGAGCTGGGATGCCCCCGTTGCTGGTTACA CACACAGCCTGATTTGGTAGGGTCGGGGTGGAACTGGGATGCCCCCGTTG CTGGTTACACACAGAGCCTGATTTGGTAGGGTCGGGGTGGAGCTGGGATG CCCCCGTTGCTGGTTACACACACAGCCTGATTTGGTAGGGTCGGGGTGGA GCTGGGATGCCCCCGTTGCTGGTTACACACAGAGCCTGATTTGGTAGGGT CGGGGTGGAGCTGGGATGCCCCCGTTGCTGGTTACACACAGAGCCTGATT TGGTAGGGGTGGCGTGGAGCTGGGATGCCCCTGCTGCTGGTTACACACAG AGCCTGATTTGGGAGGGTTGGGGTGGAG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0023 a0004c0013t0002g0023	1	274	0.0037	827	c.349 others(848): Show c.3492+11230_3492+11231insCTCCACCCCAACCCTCCCAAATCA GGCTCTGTGTGTAACCAGCAGCAGGGGCATCCCAGCTCCACGCCACCCCT ACCAAATCAGGCTCTGTGTGTAACCAGCAACGGGGGCATCCCAGCTCCAC CCCGACCCTACCAAATCAGGCTCTGTGTGTAACCAGCAACGGGGGCATCC CAGCTCCACCCCGACCCTACCAAATCAGGCTGTGTGTGTAACCAGCAACG GGGGCATCCCAGCTCCACCCCGACCCTACCAAATCAGGCTCTGTGTGTAA CCAGCAACGGGGGCATCCCAGTTCCACCCCGACCCTACCAAATCAGGCTG TGTGTGTAACCAGCAACGGGGGCATCCCAGCTCCACCCCGACCCTACCAA ATCAGGCTCTGTGTGTAACCAGCAACGGGGGGCATCCCAGCTCCACCCCG ACCCTACCAAATCAGGCTCTGTGTGTAACCAGCAACGGGGGCATCCCAGC TCCACCCCAACCCTACCAAATCAGGCTGTGTGTGTAACCAGCAACGGGGG TATCCCAGCTCCACCCCGACCCTACCAAATCAGGCTCTGTGTGTAACCAG CAACGGGGGCATCCCAGCTCCACCCCGACCCTACCAAATCAGGCTCTGTG TGTAACCAGCAACGGGGGCATCCCAGCTCCACCCCGACCCTACCAAATCA GGCTCTGTGTGTAACCAGCAACGGGGGCATCCCAGTTCCACCCCGACCCT ACCAAATCAGGCTCTGTGTGTAACCAGCAACGGGGGCATCCCAGCTCCAC CCCGACCCTACCAAATCAGGCTCTGTGTGTAACCAGCAACGGGGGCATCC CAG	ZFAT	ENSG00000066827.16	transcript	ENST00000377838.8	protein_coding	15/15			chr8	TogoVar
ZNF365_chr10_62369369_62407450	62370977	T T	TCATATAT others(820): Show TCATATATCACATATATGATATATATCATATGTGATATATATCATATATC ACATATATGATATATATCATATGTGATATATATCATATATCACATATATG ATATATATCATATGTGATATATATCTCATATATCACATATATGATATATA TCACATATGATATATATCATATATATCACATATATGATATATATCATATG TGATATATATCATATATATCACATATATGATATATATCATATGTGATATA TATCATATATATCACATATATGATATATATCATATATGTGGTATATATCA TATATATCAAATATATGATATATATCATATATGTGATATATATCACATAT GTGATATATATCATATCACATATCATATGACATATCATATCACATATCAC ATATCACATATCACATATCACATATCATATGATATATATCACATGTGATA TATAGCATATGTGATATATATCATATATATCACATGTGATATATAGCATA TGTGATATATATCATATATATCACATATGATATATAGCATATGTGATATA TATCATATATATCACATATGCTATATAGCATACGTGATATATATCATATA TATCACATATGCTATATAGCATACGTGATATATATCATATATATCATATA TGATGTATAGCATGATATATATGCTATATATCACATGTGATATATATCAT ATATATCACATGTGATATATAGCATATATATCACATGTGATATATAGCAT ATGTGATATATATGATATATGTGATATATATCATATGTGATATATATGAT ATATATCACATATATATGATATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	350	0.0029	827	c.-34 others(838): Show c.-3495_-3494insCATATATCACATATATGATATATATCATATGTGA TATATATCATATATCACATATATGATATATATCATATGTGATATATATCA TATATCACATATATGATATATATCATATGTGATATATATCTCATATATCA CATATATGATATATATCACATATGATATATATCATATATATCACATATAT GATATATATCATATGTGATATATATCATATATATCACATATATGATATAT ATCATATGTGATATATATCATATATATCACATATATGATATATATCATAT ATGTGGTATATATCATATATATCAAATATATGATATATATCATATATGTG ATATATATCACATATGTGATATATATCATATCACATATCATATGACATAT CATATCACATATCACATATCACATATCACATATCACATATCATATGATAT ATATCACATGTGATATATAGCATATGTGATATATATCATATATATCACAT GTGATATATAGCATATGTGATATATATCATATATATCACATATGATATAT AGCATATGTGATATATATCATATATATCACATATGCTATATAGCATACGT GATATATATCATATATATCACATATGCTATATAGCATACGTGATATATAT CATATATATCATATATGATGTATAGCATGATATATATGCTATATATCACA TGTGATATATATCATATATATCACATGTGATATATAGCATATATATCACA TGTGATATATAGCATATGTGATATATATGATATATGTGATATATATCATA TGTGATATATATGATATATATCACATATATATGATATATATCA	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3391		chr10	TogoVar
ABCB11_chr2_168915781_169036324	168975305	A A	ATAAATAT others(821): Show ATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATTTAT ATATTTATCTATAAATATATAAATATTTATATATTTATCGATAAATATAT AAATATTTATATATTTATCGATAAATATATAAATATTTATATATTTATCG ATAAATATATAAATATTTTTATATTTATAAATGTATAAATATTTTTATAT TTATAGATAAATATATAAATATTTTTATATTTATAGATAAATGTATAAAT ATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAA ATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATAT TTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAAT ATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAA ATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATAT TTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAAT ATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAA ATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATAT TTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAAT ATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAA ATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATAT TTATAGATATATAAATGTATAAATATTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0063 a0001c0063	a0001c0063t0001 a0001c0063t0001	a0001c0063t0001g0226 a0001c0063t0001g0226	1	306	0.0033	828	c.130 others(847): Show c.1308+1271_1308+1272insAAAATATTTATACATTTATATATCTA TAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATA CATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAA AATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTA TAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATA CATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAA AATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTA TAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATA CATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAA AATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTA TAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATA CATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAA AATATTTATACATTTATCTATAAATATAAAAATATTTATATATTTATCTA TAAATATAAAAATATTTATACATTTATAAATATAAAAATATTTATATATT TATCGATAAATATATAAATATTTATATATTTATCGATAAATATATAAATA TTTATATATTTATCGATAAATATATAAATATTTATATATTTATAGATAAA TATATAAATATTTATCTATAAATATAAAAATATTTATATATTTATATATT TA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC4_chr13_95014835_95306451	95025446	A A	ACAGACCC others(821): Show ACAGACCCACACACCCATACACACACACACCAGACCCCCACACCCCCACA CCCATACACACACACCCACACCCACACCCACCACACACCCACACCCCCAC ACACACCCTCCCACCCCCACACACACACATACCCCCACCACACACCCACA CACCCCCTCACACACCCACACCCACCACACACCCCCACCACACACCCACA TACACCCACACCCCCACCACACACCCATACACACACCCCCACATACTAAT ACACACACACTCCCACACCCTCCCACCCCCCCCACACCCCCACCACACAC CAATACACACCCACACACCCCCTCACACACACACCCACACACCCATACAC ACACCCACCACACACCCATACATACAAACCCCCACACCCCCTCACACCCT CCCCCCACTCACCCATACACAACCCCCACCACACCCCCACACCCATACAC ACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACACC CTCCCCCCACACACCCATACACAACCCCCACCACACCCCCACACCCATAC ACACACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACA CACCCTCCCCCCCACACACCCATACACACACCCCCACACCCCCACCACAC CCATACACACACACCCGTACCCCCTCACACCCTCCCCCCACACACCCATC CCCACCACACACCCATACACACACACCCACACACACACCACACCCATACA CACACATACCCCCACACCCCCACACACACCCTCCCTCACACACACCCCCA CCACACACCCATACACACCCCAACCCCCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0122 a0002c0004t0010g0122	1	248	0.0040	828	c.387 others(847): Show c.3871-3765_3871-3764insGGGGGGTTGGGGTGTGTATGGGTGTG TGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGTGGGGGTATGT GTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGGGTGTGTGGT GGGGATGGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGGTGTGTGTGTA TGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTGTGGGGGGGAGG GTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGGGGTGTGTG TGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGGTGTGTGGGGG GAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGGGGTG TGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGGTGAGTGGG GGGAGGGTGTGAGGGGGTGTGGGGGTTTGTATGTATGGGTGTGTGGTGGG TGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGTGTGTGGGTGTGTA TTGGTGTGTGGTGGGGGTGTGGGGGGGGTGGGAGGGTGTGGGAGTGTGTG TGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGTGGGGGTGTGGGT GTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGGGTGTGTGAGGGG GTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGTGGGGGTGGGAGGGTG TGTGTGGGGGTGTGGGTGTGTGGTGGGTGTGGGTGTGGGTGTGTGTGTAT GGGTGTGGGGGTGTGGGGGTCTGGTGTGTGTGTGTATGGGTGTGTGGGTC TG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ACSF3_chr16_89088852_89161233	89137230	A A	ATCCCGGG others(821): Show ATCCCGGGAGGACCACCAGGAGCTTGTGGGGAAGGACTGAGGGGAAGAGC CCCAGGTCTCGGGAGGACCACCAGGAGCTTGTGGGGAAGGACTGAGGGGA AGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGA GGGGAAGAGCCCCGGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGG ATTGAGGGGAAGAGCCCCGGGTCCCGGGAGGACCACCAGGAGCTCACGGG GAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTC ACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGG AGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCA CCAGGAGCTCACGGGGAATGATTGAGGGGAAGAGCCCCAGGTCTCGGGAG GACCACCAGGAGCTTGTGGGGAACGAGTGAGGGGAAGAGCCCCGGGTCCC GGGGAGGACCACCAGGAGCTCAAGGGGAAGGACTGAGGGGAAGAGCCCCA GGTCCCGGGGAGGACCACCAGGAGCTCAAGGGGAAGGACTGAGGGGAAGA GCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGG GAAGAGCCCCAGGTCCCGGGGAGGACCACCAGGAGCTCACGGGGAAGGAT TGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGA AGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCAC GGGGAAGGATTGAGGGGAAGAGCCCCAGG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0073 a0002c0003t0005g0073	1	368	0.0027	828	c.136 others(847): Show c.1366+4046_1366+4047insTGTGGGGAAGGACTGAGGGGAAGAGC CCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGA AGAGCCCCGGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGA GGGGAAGAGCCCCGGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGG ATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGG GAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTC ACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGG AGCTCACGGGGAATGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCA CCAGGAGCTTGTGGGGAACGAGTGAGGGGAAGAGCCCCGGGTCCCGGGGA GGACCACCAGGAGCTCAAGGGGAAGGACTGAGGGGAAGAGCCCCAGGTCC CGGGGAGGACCACCAGGAGCTCAAGGGGAAGGACTGAGGGGAAGAGCCCC AGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGA GCCCCAGGTCCCGGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGG GGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGAT TGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGA AGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTTGT GGGGAAGGACTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAG CT	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADARB1_chr21_45069580_45231560	45224512	A A	AGGAACTG others(821): Show AGGAACTGGGTTCGGGGAGCCCTGGGCAGGGCGGCTGTGGGGAGGAACTG GGTTCGGGGAGCCCTGTCCGGCGGGGGGCTGTGGGGCGGGGAGCTGGGTT CGGGGAGCCCTGGGCGGGGTGGCTGTTGGGGGGAACTGGGTTCGGGGAGC CCTGGGCGGGGTGGCTTTTGGGGGGAACTGGGTTCGGGGAGCCCTGGGCG GGGTGGCTGTTGGGGGGAGCTGGGTTCGGGGAGCCCTGGGCGGGGTGGCT GTTGGGGGGAGCTGGGTTCGGGGAGCCCTGGGCGGGGCGGCTGTTGGGGG GAACTGGGTTCGGGGAGCCCTGGGTGGGGCGGCTGTGGGGAGGAACTGGT TTCGGGGAGCCCTGGGCGGGGGGGTGTAGGGGGGCGGCTGTGGGGGGGAA CTGGTTTCGGGGAGCTCTGGGCGGGGCGGTTGTTGGGGGGAACTGGGTTC CGGGAGCCCTGGGCGGGGTGGCTTTTGGGGGGAACTGGGTTCGGGGAGCC CTGGGCGGGGTGGCTTTTGGGGGGAACTGGGTTCGGGGAGCCCTGGGCGG GGTGGCTTTTGGGGGGAACTGGGTTCGGGGAGCCCTGGGCGGGGCGGCTG TTGGGGGGAGCTGGGTTCGGGGAGCCCTGGGTGGGGCGGCTGTGGGGGAG AGCTGGTTTCGGGGAGCCCTGGGCGGGGCGGCTGTGGGGGGGAGCTGGGT TCGGGGAGCCCTGGGCGGGGTGGCTGTTGGGGGGAGCTGGGTTCGGGGAG CCCTGGGCGGGGTGGCTGTTGGGGGGAGCTGGGTTCGGGGAGCCCTGGGC AGGGGGGTGTAGGGGGGCGGCTGTGGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0124 a0001c0001t0115g0124	1	350	0.0029	828	c.23 others(839): Show c.2341_*2342insAGGGCGGCTGTGGGGAGGAACTGGGTTCGGGGAG CCCTGTCCGGCGGGGGGCTGTGGGGCGGGGAGCTGGGTTCGGGGAGCCCT GGGCGGGGTGGCTGTTGGGGGGAACTGGGTTCGGGGAGCCCTGGGCGGGG TGGCTTTTGGGGGGAACTGGGTTCGGGGAGCCCTGGGCGGGGTGGCTGTT GGGGGGAGCTGGGTTCGGGGAGCCCTGGGCGGGGTGGCTGTTGGGGGGAG CTGGGTTCGGGGAGCCCTGGGCGGGGCGGCTGTTGGGGGGAACTGGGTTC GGGGAGCCCTGGGTGGGGCGGCTGTGGGGAGGAACTGGTTTCGGGGAGCC CTGGGCGGGGGGGTGTAGGGGGGCGGCTGTGGGGGGGAACTGGTTTCGGG GAGCTCTGGGCGGGGCGGTTGTTGGGGGGAACTGGGTTCCGGGAGCCCTG GGCGGGGTGGCTTTTGGGGGGAACTGGGTTCGGGGAGCCCTGGGCGGGGT GGCTTTTGGGGGGAACTGGGTTCGGGGAGCCCTGGGCGGGGTGGCTTTTG GGGGGAACTGGGTTCGGGGAGCCCTGGGCGGGGCGGCTGTTGGGGGGAGC TGGGTTCGGGGAGCCCTGGGTGGGGCGGCTGTGGGGGAGAGCTGGTTTCG GGGAGCCCTGGGCGGGGCGGCTGTGGGGGGGAGCTGGGTTCGGGGAGCCC TGGGCGGGGTGGCTGTTGGGGGGAGCTGGGTTCGGGGAGCCCTGGGCGGG GTGGCTGTTGGGGGGAGCTGGGTTCGGGGAGCCCTGGGCAGGGGGGTGTA GGGGGGCGGCTGTGGGGGGGAACTGGGTTCGGGGAGCCCTGGGC	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	11/11	2342	INFO_REALIGN_3_PRIME	chr21	TogoVar
ANXA2_chr15_60342151_60402986	60349957	C C	CAGGGGAA others(821): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01346.hp1 HG02148.hp1 HG01070.hp1 HG01346.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0154 a0001c0001t0002g0327 a0001c0001t0002g0331 a0001c0001t0001g0154 a0001c0001t0002g0327 a0001c0001t0002g0331	3	334	0.0090	828	c.838 others(843): Show c.838-761_838-760insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349988	G G	GGAGGGAG others(821): Show GGAGGGAGGGGAAGGCAAGGAGGCAGGAGAAGGCAGGGAGGCAGGGGAAG GCAAGGAGGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGG GAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG AGGGGAAGGCAGGGAGGGAGGTGAAGGCAGGGAGGGAGGGGAAGGCAAGG AGGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCAAGGAGGCAGGAGAAGGC AGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGA AGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAG GGGAAGGCAAGGAGGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCAAGGAG GCAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAG GGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAG GCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGG GAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG AGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGG AGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGC AGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGA AGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAG GGGAAGGCAGGGAGGGAGGGGAAGGCAGA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	334	0.0030	828	c.838 others(843): Show c.838-792_838-791insTCTGCCTTCCCCTCCCTCCCTGCCTTCCCC TCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTT CCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTG CCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTC CCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTC CCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCC CCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCC TTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCC TGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCTCCTGCC TCCTTGCCTTCCCCTGCCTCCCTGCCTTCTCCTGCCTCCTTGCCTTCCCC TCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTT CCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTG CCTTCTCCTGCCTCCTTGCCTTCCCCTGCCTCCCTGCCTTCTCCTGCCTC CTTGCCTTCCCCTCCCTCCCTGCCTTCACCTCCCTCCCTGCCTTCCCCTC CCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCC CCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCTCCTGCCTCCTTGCC TTCCCCTGCCTCCCTGCCTTCTCCTGCCTCCTTGCCTTCCCCTCCCTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(821): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCATGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATAAAAATACA TATATATATATATTTAAAATTCCTTGTAAAAAGTGGCTGGGCGTGGTGGC TCACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGGAGGCCAATCACTT GAGGTCAGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	336	0.0030	828	c.94+ others(843): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT GTATTTTTATATATATTCTTTTTTTTTAAACGGAGTCTCACTCTGTTACC AGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCT GGGTTCAAGCAATTCTGCCTCAGGAGGGAGAGGCAGGGACTAGGTGGGAC TACAGGCACACGCCTGGCTAATTTTTTTTTTTTTTTTTTGTATTTTAGTA GAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCTTGAGCTC AGGGAAGTCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTG AGCCACCGTGCCCAGCCGATAAATATATTTTTAAAGTAGCAAACCAATCA TTATGGGAAAGAATCGGTAATTTGGTTGACTTCTGCACCGTTATTTTATA GCTAAGTATTGTATTTATTTTTGTTTCCACATGGGAGAGAGGCACCAGCC ACTATTCACTGTTCAGGGTTTCTTTTTCTTTTCTTTTTTCTTTTTTATTT TTGAGACAGTGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCATGAT CTCGGTTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTA ATTTTTTTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(821): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAACTT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGA TCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATAAAAATACA TATATATATATATTTAAAATTCCTTGTAAAAAGTGGCTGGGCGTGGTGGC TCACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGGAGGCCAATCACTT GAGGTCAGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	336	0.0030	828	c.94+ others(843): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT GTATTTTTATATATATTCTTTTTTTTTAAACGGAGTCTCACTCTGTTACC AGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACCTCTGCCTCCT GGGTTCAAGCAATTCTGCCTCAGGAGGGAGAGGCAGGGACTAGGTGGGAC TACAGGCACACGCCTGGCTAATTTTTTTTTTTTTTTTTTGTATTTTAGTA GAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCTTGAGCTC AGGGAAGTCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTG AGCCACCGTGCCCAGCCGATAAATATATTTTTAAAGTAGCAAACCAATCA TTATGGGAAAGAATCGGTAATTTGGTTGACTTCTGCACCGTTATTTTATA GCTAAGTATTGTATTTATTTTTGTTTCCACATGGGAGAGAGGCACCAGCC ACTATTCACTGTTCAGGGTTTCTTTTTCTTTTCTTTTTTCTTTTTTATTT TTGAGACAGTGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGAT CTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA AGTTTTTTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(821): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAACTT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATAAAAATACA TATATATATATATTTAAAATTCCTTGTAAAAAGTGGCTGGGCGTGGTGGC TCACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGGAGGCCAATCACTT GAGGTCAGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG03041.hp2 HG02280.hp2 HG02615.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0115 a0001c0001t0002g0021 a0001c0001t0002g0115	3	336	0.0089	828	c.94+ others(843): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT GTATTTTTATATATATTCTTTTTTTTTAAACGGAGTCTCACTCTGTTACC AGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACCTCTGCCTCCT GGGTTCAAGCAATTCTGCCTCAGGAGGGAGAGGCAGGGACTAGGTGGGAC TACAGGCACACGCCTGGCTAATTTTTTTTTTTTTTTTTTGTATTTTAGTA GAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCTTGAGCTC AGGGAAGTCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTG AGCCACCGTGCCCAGCCGATAAATATATTTTTAAAGTAGCAAACCAATCA TTATGGGAAAGAATCGGTAATTTGGTTGACTTCTGCACCGTTATTTTATA GCTAAGTATTGTATTTATTTTTGTTTCCACATGGGAGAGAGGCACCAGCC ACTATTCACTGTTCAGGGTTTCTTTTTCTTTTCTTTTTTCTTTTTTATTT TTGAGACAGTGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGAT CTCGGTTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTA AGTTTTTTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(821): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAACTT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGA TCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATAAAAATACA TATATATATATATTTAAAATTCCTTGTAAAAAGTGGCTGGGCGTGGTGGC TCACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGGAGGCCAATCACTT GAGGTCAGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG02451.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0116 a0001c0001t0002g0117	2	336	0.0060	828	c.94+ others(843): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT GTATTTTTATATATATTCTTTTTTTTTAAACGGAGTCTCACTCTGTTACC AGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACCTCTGCCTCCT GGGTTCAAGCAATTCTGCCTCAGGAGGGAGAGGCAGGGACTAGGTGGGAC TACAGGCACACGCCTGGCTAATTTTTTTTTTTTTTTTTTGTATTTTAGTA GAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCTTGAGCTC AGGGAAGTCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTG AGCCACCGTGCCCAGCCGATAAATATATTTTTAAAGTAGCAAACCAATCA TTATGGGAAAGAATCGGTAATTTGGTTGACTTCTGCACCGTTATTTTATA GCTAAGTATTGTATTTATTTTTGTTTCCACATGGGAGAGAGGCACCAGCC ACTATTCACTGTTCAGGGTTTCTTTTTCTTTTCTTTTTTCTTTTTTATTT TTGAGACAGTGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGAT CTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTA AGTTTTTTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(821): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGTG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGTGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGG CTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCC GGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0270 a0005c0008t0004g0270	1	292	0.0034	828	c.207 others(849): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGG GTGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCG GGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCAC CTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCC CTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(821): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCT CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGC AGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGT GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCC GGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03195.hp1 HG02970.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0290 a0001c0002t0015g0291 a0001c0002t0015g0290 a0001c0002t0015g0291	2	292	0.0069	828	c.207 others(849): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCCACCT CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGC CGGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCAC CTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCC CTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(821): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGGTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGGCGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCC GGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0262 a0001c0001t0044g0262	1	292	0.0034	828	c.207 others(849): Show c.2079+60658_2079+60659insAGGGGGGGTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGG GCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGG CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCAC CTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCC CTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(821): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGGTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGGCGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCC GGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	292	0.0034	828	c.207 others(849): Show c.2079+60658_2079+60659insAGGGGGGGTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGG CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCAC CTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCC CTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(821): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGAGGGGGAAG GGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGAG GAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGG AAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAG GAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGG GGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGG AGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAG GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGG GGAGGAGGAAGGGGGGAAGGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGG GAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGG AGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGGAGCGGGAGGAGG AAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGA AGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAG GGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGA AGAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0002 a0009c0017t0001g0002	1	300	0.0033	828	c.-70 others(837): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGG GGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGG GGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGG GGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGA AGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAG GGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAG GAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGGAGGAGGAAGGGGG GAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAA GGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGG GAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGG AGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAG CGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAGTG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGG AGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(821): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATCATCA TCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCACCAGC ACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCACC ATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCTCACCATCACCATCACCACCATCATCACCACCACCATCACCACC ACCATCACCATCACCATCACCACCATCATCATCACCACCATCACCACCAC CACCATCACCATCATCACCATCACCACCAGCACCACCACCATCACCACCA CCATCACCACCAGCACCACCACCATCACCACCACCATCACCATCACCATC ACCACCATCATCATCACCACCATCACCACCACCACCACCACCATCATCAC CATCACCACCAGCACCACCACCATCACCACCACCATCACCACCACCACCA CCACCATCATCACCATCACCACCAGCACCACCACCAACATCATCATCATC ACCACCACCACCACCATCACCACCACCACCACCATCAACACCACCATCAT CATCACCACCACCACCATCACCACCATCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0066 a0009c0014t0066	a0009c0014t0066g0264 a0009c0014t0066g0264	1	376	0.0027	828	c.63+ others(841): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGCTGGTGGTGATGGTG ATGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGCTGGTGGTGATGGTGG TGGTGATGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGATGGTGGTG GTGGTGATGGTGGTGATGATGATGGTGGTGATGGTGATGGTGATGGTGGT GGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGT GGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGATGGT GATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGATGGTGGTGCT GGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGATGA TGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGTGGTGGTG GTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGGT GAGATGGTGGTGATGGTGGTGATGGTGATGATGATGGTGGTGGTGATGGT GAGATGGTGGTGATGGTGGTGGTGGTGGTTATGGTGGTGGTGGTGGTGAT GATGGTGATGATGATGGTGTTGATGATGGTGATGATGATGGTGGTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(821): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGA TGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0064 a0001c0009t0064	a0001c0009t0064g0010 a0001c0009t0064g0010	1	336	0.0030	828	c.248 others(845): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTGGTTTT TTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(821): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGA TGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0035 a0001c0001t0015g0035	1	336	0.0030	828	c.248 others(845): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTT TTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(821): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGA TGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	336	0.0030	828	c.248 others(845): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTGGTTTT TTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(821): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGA TGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0267 a0001c0001t0004g0267	1	336	0.0030	828	c.248 others(845): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTT TTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCCTCCC others(821): Show TCCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTT CCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCT TCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCT CCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTCCCT CTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCC TCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTC CTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTT CCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0240 a0001c0002t0003g0240	1	270	0.0037	828	c.162 others(849): Show c.1622-54504_1622-54503insCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCT CCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCC TCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTC TTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCC CCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCC TCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTC CTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTT CCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCC TCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCC CCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTC TCCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTT CCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCC TCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCC TTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCT CCCC	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(821): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCA CCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTC CTCCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCTTCCTCTTC CTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCC TCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTC CTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTT CCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0116 a0001c0002t0065g0116	1	270	0.0037	828	c.162 others(849): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCC CCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCC CTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCT CCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCT CCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCT TTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTC CCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(821): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCT TCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTCCCTC TTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCCTCCTCCTCC TCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTC CTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTT CCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0253 a0001c0002t0003g0253	1	270	0.0037	828	c.162 others(849): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTC CCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCC TCCTCCTCCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCT CCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCT TTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTC CCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(821): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCT TCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCT CCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTCCCT CTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCC TCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTC CTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTT CCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0226 a0001c0002t0009g0226	1	270	0.0037	828	c.162 others(849): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCT CCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCT CCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCT TTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTC CCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNTN6_chr3_1088024_1409217	1245281	A A	ATATATAT others(821): Show ATATATATAATATATATATAACATATATATAATATATATAACATATATAT AATATATATAACATATATATAATATATATAACATATATATAATATATATA ACATATATATATTATATATATAACATATATATAATATATATAACATATAT ATATTATATATATAACATATATATAATATATATAACATATATATATTATA TATATAACATATATATAATATATATATAACATATATATATAATATATATA ACATATATATATTATATATATAACATATATATAATATATATATAACATAT ATATAATATATATATAACATATATAATATATATATAACATATATAATATA TATATCATATATATATTATATATATAACATATATATTATATATATAACAT ATATATAATATATATATAACATATATATATAACATATATAACATATATAT ATAACATATATATAACATATATAACATATATAACATATATATATTATATA TATAACATATATATATTATATATATAACATATATATAATATATATATAAC ATATATATGTTATATATATATCATATATATTATATATATAACATATATAT ATTATATATATATAACATATATATAATATATATATAACATATATATAATA TATATATAACATATATATAACATATATAACATATATAACATATATATAAC ATATATAACATATATTATATATATAACATATATATATAATATATAACATA TATATATAATATATATATAACATATATATATAATATATATATAACATATA TATATAATATATATATAACATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0178 a0001c0006t0002g0178	1	232	0.0043	828	c.358 others(847): Show c.358+17288_358+17289insTATATATAATATATATATAACATATA TATAATATATATAACATATATATAATATATATAACATATATATAATATAT ATAACATATATATAATATATATAACATATATATATTATATATATAACATA TATATAATATATATAACATATATATATTATATATATAACATATATATAAT ATATATAACATATATATATTATATATATAACATATATATAATATATATAT AACATATATATATAATATATATAACATATATATATTATATATATAACATA TATATAATATATATATAACATATATATAATATATATATAACATATATAAT ATATATATAACATATATAATATATATATCATATATATATTATATATATAA CATATATATTATATATATAACATATATATAATATATATATAACATATATA TATAACATATATAACATATATATATAACATATATATAACATATATAACAT ATATAACATATATATATTATATATATAACATATATATATTATATATATAA CATATATATAATATATATATAACATATATATGTTATATATATATCATATA TATTATATATATAACATATATATATTATATATATATAACATATATATAAT ATATATATAACATATATATAATATATATATAACATATATATAACATATAT AACATATATAACATATATATAACATATATAACATATATTATATATATAAC ATATATATATAATATATAACATATATATATAATATATATATAACATATAT ATATAATATATATATAACATATATATATAATATATATATAACATATATAT AT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22			chr3	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(821): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0167 a0002c0003t0002g0167	1	342	0.0029	828	c.844 others(845): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA CGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(821): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0192 a0002c0005t0003g0192	1	342	0.0029	828	c.844 others(845): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA CGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(821): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGTCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCAGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02015.hp1 HG00408.hp1 HG02015.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0158 a0002c0005t0003g0159 a0002c0005t0003g0158 a0002c0005t0003g0159	2	342	0.0059	828	c.844 others(845): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGTCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA CGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCAGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(821): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGTCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03098.hp2 HG02922.hp1 HG03098.hp2	a0002 a0002	a0002c0005 a0002c0016 a0002c0005 a0002c0016	a0002c0005t0003 a0002c0016t0003 a0002c0005t0003 a0002c0016t0003	a0002c0005t0003g0157 a0002c0016t0003g0156 a0002c0005t0003g0157 a0002c0016t0003g0156	2	342	0.0059	828	c.844 others(845): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGTCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA CGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(821): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp1 others(20): Show HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG01070.hp2 HG01891.hp2 HG02040.hp1 HG02280.hp1 HG02683.hp2 HG03491.hp1 HG03492.hp1 NA18612.hp1 NA18945.hp2 NA18949.hp1 NA18955.hp1 NA18962.hp2 NA18991.hp2 NA19002.hp2 NA19077.hp1 NA19082.hp1 NA20129.hp1 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0005 a0002c0003t0002g0006 a0002c0003t0002g0144 others(18): Show a0002c0003t0002g0005 a0002c0003t0002g0006 a0002c0003t0002g0144 a0002c0003t0002g0160 a0002c0003t0002g0162 a0002c0003t0002g0163 a0002c0003t0002g0164 a0002c0003t0002g0165 a0002c0003t0002g0166 a0002c0003t0002g0168 a0002c0003t0002g0169 a0002c0003t0002g0170 a0002c0003t0002g0171 a0002c0003t0002g0172 a0002c0003t0002g0173 a0002c0003t0002g0174 a0002c0003t0002g0175 a0002c0003t0002g0176 a0002c0003t0002g0177 a0002c0003t0002g0178 a0002c0003t0002g0179	23	342	0.0673	828	c.844 others(845): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA CGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(821): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTG GACGGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0207 a0002c0003t0002g0207	1	342	0.0029	828	c.844 others(845): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGC ACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA CGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(821): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0010 a0002c0005t0003g0010	1	342	0.0029	828	c.844 others(845): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA CGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(821): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGTGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0182 a0002c0003t0002g0182	1	342	0.0029	828	c.844 others(845): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGTGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA CGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(821): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCTGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0183 a0002c0003t0002g0183	1	342	0.0029	828	c.844 others(845): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA CGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(821): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG02717.hp1 others(6): Show HG02559.hp2 HG02630.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp1 HG03139.hp2 HG03486.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0013 a0003c0006 a0001c0013 a0003c0006	a0001c0013t0004 a0003c0006t0004 a0003c0006t0015 a0001c0013t0004 a0003c0006t0004 a0003c0006t0015	a0001c0013t0004g0194 a0003c0006t0004g0193 a0003c0006t0004g0195 others(6): Show a0001c0013t0004g0194 a0003c0006t0004g0193 a0003c0006t0004g0195 a0003c0006t0004g0196 a0003c0006t0004g0197 a0003c0006t0004g0198 a0003c0006t0004g0199 a0003c0006t0004g0201 a0003c0006t0015g0200	9	342	0.0263	828	c.844 others(845): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCC CCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA CGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(821): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGG ACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0184 a0002c0003t0002g0184	1	342	0.0029	828	c.844 others(845): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA CGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(821): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGCCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGG ACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18522.hp1 NA18906.hp2 HG02965.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0322 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0322	3	342	0.0088	828	c.844 others(845): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGCCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCC CCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGCA CGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(821): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGG ACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00438.hp2 others(72): Show HG00099.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01256.hp2 HG01361.hp1 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02486.hp1 HG02559.hp1 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG03209.hp1 HG03471.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG04228.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18957.hp2 NA18962.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18995.hp1 NA18998.hp2 NA19003.hp2 NA19005.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19064.hp2 NA19067.hp2 NA19080.hp1 NA19084.hp1 NA19091.hp1 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0001c0011 a0007c0017 a0001c0002 a0001c0011 a0007c0017	a0001c0002t0001 a0001c0002t0007 a0001c0002t0009 others(2): Show a0001c0002t0001 a0001c0002t0007 a0001c0002t0009 a0001c0011t0001 a0007c0017t0001	a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0204 others(70): Show a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0007g0305 a0001c0002t0009g0279 a0001c0011t0001g0246 a0007c0017t0001g0285	75	342	0.2193	828	c.844 others(845): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCC CCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGCA CGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(821): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGG ACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA20300.hp2 HG01169.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0327 a0001c0002t0001g0328	2	342	0.0059	828	c.844 others(845): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCC CCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGCA CGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL21A1_chr6_56051590_56252580	56098112	T T	TAAATATA others(821): Show TAAATATATATAAATATATAAATATATATAAATATATATAAATATATAAA TATATATAAATATATATAAATATAAAAATATATATAAATATATAAATATA TATAAATATATATGTAAATATATAAATATATATAAATATATATGTAAATA TATAAATATATATAAATAAATATATATAAATATATATAAATATAAATATA TATATAAATATGTAATTATAAATATATATGTAAATATATATAAATATAAA TATATTTATAAATATATAAATATAAATATATTTATAAATATATAAATATA TATAAAAATATATATAAATATATAAAAAAATATAAATATATATAAATATA TAAATATATGTAAATATATATAAATATATATATAAATATATATAAATATA TATAAATATATATAAATATATAACTATACAAATAAATATATATAAATATA TAAATATATAAAAATATATATAAATATATATGTAAATATATAAATATATA TATAAATATATATAAATATATATAAGTATATAAATATATATAAATATATA TAAGTATATAAATATATATATAAATATATATAAGTATATAAATATATATA TAAATATATATAAGTATATAAATATATATAAATATATATAAGTATATAAA TATATATATAAATATATATAAGTATATATAAATATATATAAATATATATA AGTATATATAAATATATATAAATATATATAAGTATATATAAATATATATA AATATATATAAGTATATATAAATATATATAAATATATATAAGTATATATA AATATATATAAATATATATAAATATATGC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0094 a0001c0002t0019g0094	1	264	0.0038	828	c.181 others(847): Show c.1812+3359_1812+3360insGCATATATTTATATATATTTATATAT ATTTATATATACTTATATATATTTATATATATTTATATATACTTATATAT ATTTATATATATTTATATATACTTATATATATTTATATATATTTATATAT ACTTATATATATTTATATATATTTATATATACTTATATATATTTATATAT ATATTTATATACTTATATATATTTATATATATTTATATACTTATATATAT TTATATATATATTTATATACTTATATATATTTATATATATATTTATATAC TTATATATATTTATATATATTTATATACTTATATATATTTATATATATTT ATATATATATTTATATATTTACATATATATTTATATATATTTTTATATAT TTATATATTTATATATATTTATTTGTATAGTTATATATTTATATATATTT ATATATATTTATATATATTTATATATATATTTATATATATTTACATATAT TTATATATTTATATATATTTATATTTTTTTATATATTTATATATATTTTT ATATATATTTATATATTTATAAATATATTTATATTTATATATTTATAAAT ATATTTATATTTATATATATTTACATATATATTTATAATTACATATTTAT ATATATATTTATATTTATATATATTTATATATATTTATTTATATATATTT ATATATTTACATATATATTTATATATATTTATATATTTACATATATATTT ATATATATTTATATATTTATATATATTTTTATATTTATATATATTTATAT ATATTTATATATTTATATATATTTATATATATTTATATATTTATATATAT TT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(821): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGG AGGGGAGGATGGAAGGAGGGAGGGAGGGAAGGACAGAGGGAGGGAGGGAG GGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGG GAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGA GGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGG ACGGAAGGAGGGAAGGAGGGAGGCGAGGCTAGAAGGAGAGAGGGATGGAG GGAGGGATGGAAGGATGGAGGGAGGAAAGAATGGAGGGAGGGAGGGAAGA ATGGAGGGAGGGAGGGAGGGAAGAATGGAGGAAGGGAGGGAGGGAGGGGA GAATGGAGGAAGGGAGGGAGGGAGGGAAGAATGGAGGGAAGAATGGAGGG AGGGAGGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAG GGAGGTAAGAATGGAGGGAGGGAGGGAAGAATGCAGGGAGGGAGGGAGGG AAGAATGCAGAGAGGGAGGGAAGAATGGAAGAATGGAGGGAGGGAAGAAT GGAGGGAGGGAAGAGTGGAAGAATGGAGGGAGGGAAGAGTGGAAAAATGG AGGGAGCGAGTGAGGGAGGGAAGAATGGAAGAATGGAAGAATGGAGGGAG GGAAGAATGCAAGACTGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGG AAGAATGGAAGAATGGACGGAAGGAAGAGTGGAAGAATGGAGGGAGGGAG GGAGGGAGGGAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0024 a0024	a0024c0038 a0024c0038	a0024c0038t0075 a0024c0038t0075	a0024c0038t0075g0067 a0024c0038t0075g0067	1	126	0.0079	828	c.415 others(849): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCGC TCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTC CCTCCATTCTTCCCTCCCTCCATTCTTCCATTCTTCCCTCCCTCTCTGCA TTCTTCCCTCCCTCCCTCCCTGCATTCTTCCCTCCCTCCCTCCATTCTTA CCTCCCTCCATTCTTCCTTCCCTCCCTCCCTCCATTCTTCCCTCCCTCCC TCCCTCCCTCCATTCTTCCCTCCATTCTTCCCTCCCTCCCTCCCTTCCTC CATTCTCCCCTCCCTCCCTCCCTTCCTCCATTCTTCCCTCCCTCCCTCCC TCCATTCTTCCCTCCCTCCCTCCATTCTTTCCTCCCTCCATCCTTCCATC CCTCCCTCCATCCCTCTCTCCTTCTAGCCTCGCCTCCCTCCTTCCCTCCT TCCGTCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTC CATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTCCA TCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTCCATC CTCCCCTCCCTCCCTCCCTCTGTCCTTCCCTCCCTCCCTCCTTCCATCCT CCCCTCCCTCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTC CCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
ENTPD2_chr9_137043107_137059061	137050042	G G	GCCGCCAC others(821): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGTTCCCAGCCACCCGC CTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAG CCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCTGCCTGCCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAA GTTCCCAGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCC GCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACTC ACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACTCACGACAAAGTTCCC AGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTAT CCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACA AAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCAC CCGCCTGCCCTTACCCACGACAAAGTTCC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	400	0.0025	828	c.103 others(843): Show c.1030-54_1030-53insGGAACTTTGTCGTGGGTAAGGGCAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA TAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTG AGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCG GGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCTGGGAACT TTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGG GGCAGGCAGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGG CGGGTGGCTGGGAACTTTGTCGCGAGTAGGGGCAGGCGGGTGGCTGGGAA CTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA GGGATAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTG GCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGT CGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACA GGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCGG	ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8			chr9	TogoVar
ENTPD2_chr9_137043107_137059061	137050064	T T	TCACGACA others(821): Show TCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTC CCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACTCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGC CTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAG CCACCCGCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTATCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAA GTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCC GCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCC ACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCC AGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCACCTAT CCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACA AAGTTCCCAGCCACCCGCCTATCCCTACC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0122 a0001c0020t0001g0122	1	400	0.0025	828	c.103 others(843): Show c.1030-76_1030-75insGGTAGGGATAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA TAGGTGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTG GGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCG GGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACT TTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGG GATAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAGGGATAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAA CTTTGTCGTGGGTAGGGATAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA GGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTG GCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTTGT CGTGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACA GGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGG AACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTG	ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8			chr9	TogoVar
ENTPD2_chr9_137043107_137059061	137050200	G G	GTCCCTAC others(821): Show GTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGC CTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAG CCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCC CTACTCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAA GTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCC ACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCC AGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTAT CCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCACGACA AAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCAC CCGCCTATCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTAC TCACGACAAAGTTCCCAGCCACCCGCCTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02922.hp1 HG01884.hp2 HG02055.hp1 HG02922.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0011 a0001c0001 a0012c0011	a0001c0001t0001 a0012c0011t0001 a0001c0001t0001 a0012c0011t0001	a0001c0001t0001g0061 a0001c0001t0001g0109 a0012c0011t0001g0065 a0001c0001t0001g0061 a0001c0001t0001g0109 a0012c0011t0001g0065	3	400	0.0075	828	c.102 others(843): Show c.1029+83_1029+84insTAGGCGGGTGGCTGGGAACTTTGTCGTGAG TAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTT GTCGTGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA TAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTG GGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTG GGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCG GGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACT TTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGG GGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAGGGATAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAA CTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA GGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTG GCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGT CGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA	ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8			chr9	TogoVar
ENTPD2_chr9_137043107_137059061	137050200	G G	GTCCCTAC others(821): Show GTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGC CTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAG CCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCC CTACTCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAA GTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCC ACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCC AGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTAT CCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCACGACA AAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCAC CCGCCTATCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTAC TCACGACAAAGTTCCCAGCCACCCGCCTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02970.hp2 HG02055.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0108 a0001c0001t0001g0119	2	400	0.0050	828	c.102 others(843): Show c.1029+83_1029+84insTAGGCGGGTGGCTGGGAACTTTGTCGTGAG TAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTT GTCGTGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA TAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTG GGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTG GGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCG GGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACT TTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGG GGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAGGGATAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAA CTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA GGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTG GCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGT CGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA	ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8			chr9	TogoVar
ENTPD2_chr9_137043107_137059061	137050236	G G	GCCCCTAC others(821): Show GCCCCTACCCACGACAAAGTTCCCAGCCACCTGCCTGCCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCT ACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTATCCCTACCCACGACAAAGTTCCCAGCCACCCGC CTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAG CCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCC TTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCTACCCACGACAAA GTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCC ACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCC AGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGC CCTTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACA AAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCAC CCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTAC CCACGACAAAGTTCCCAGCCACCCGCCTA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0156	1	400	0.0025	828	c.102 others(843): Show c.1029+47_1029+48insTAGGCGGGTGGCTGGGAACTTTGTCGTGGG TAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGG CAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTG GGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCG GGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACT TTGTCGTGGGTAGGGATAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAG GGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGGTGGCTGGGAA CTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTA GGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTG GCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGT CGTGGGTAGGGGCAGGCAGGTGGCTGGGAACTTTGTCGTGGGTAGGGG	ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8			chr9	TogoVar

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Search Results (Total: 7053 hits)