Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
STAB2_chr12_103582273_103771719	103768606	G G	GGAGGGAG others(512): Show GGAGGGAGGGGGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGGGG GAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGAGAGGGACAGGGAC AGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACAGGGAG AGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGGAGAGG GAGGGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGGGGGAGGAG AGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGGAGGGAGAGGGAGAGGG AGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGGG GGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGA GGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGG GGAGGGAGAGGAGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGA GAGAGAGAGGGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	256	0.0039	519	c.22 others(530): Show c.2270_*2271insGAGGGAGGGGGAGGGGGGACAGGGAGGGAGGGAG AGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAG GAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGG GAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGG GGAGGGGGGGAGAGGGAGGGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGG AGGGAGGGGGAGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGGA GGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGG GAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGG GATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGA AGGAGAGGGAGAGGGGGAGGGAGAGGAGAGAGAGAGGGAGAGGGAGAGAG AGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGGGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1888		chr12	TogoVar
TBC1D22A_chr22_46757650_47180693	47128216	C C	CCATCCTC others(512): Show CCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCA TCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCA CCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCCCCACC CATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCC TCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACC CATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCC TCCCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCAC CCACCACCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCA TCCTCCCTCCACCCCACCCATTCTCCCCTCCACCCCACCCATCCCCCATC CTCCCTCCACCCCACCCATCCTCCCCTCCACCCCACCCATCCCCCCTTCC CTCACCCATCCCTCCCTCCG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0028 a0002c0003t0003g0028	1	112	0.0089	519	c.142 others(540): Show c.1425+16614_1425+16615insATCCTCCCTCCACCCCACCCATCC CCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCC ATCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCC ACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCT CCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCC CACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCT CCCTCCGCCCCACCCATCCCTCCCTCCCCCCACCCATCCCTCCCTCCGCC CCACCCATCCCTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCC CCCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCC CCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCCCC TCCACCCCACCCATCCCCCCTTCCCTCACCCATCCCTCCCTCCGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TENM4_chr11_78647829_79446030	79139125	T T	TATATAAA others(512): Show TATATAAAATATATATTATATTTCTATAAATATATAAAATATATATTATA TTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATAAAAT ATATATTATATTTCTATAAATATATAAAATATATATTATATTTCTATAAA TATATAAAATATATATTATATTTCTATAAATATATAAAATATATATTATA TTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATAAAAT ATATATTATATTTCTATAAATATATAAAATATATATTATATTTCTATAAA TATATAAAATATATATTATATTTCTATAAATATATAAAATATATATTATA TTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATAAAAT ATATATTATATTTCTATAAATATATAAAACATATATTATATTTCTATAAA TATATAAAACATATATTATATTTCTATAAATATATAAAACATATATTATA TTTCTATAAATATATAAAAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0032 a0001c0005t0002g0032	1	94	0.0106	519	c.-66 others(536): Show c.-66+9584_-66+9585insGTTTTATATATTTATAGAAATATAATAT ATGTTTTATATATTTATAGAAATATAATATATGTTTTATATATTTATAGA AATATAATATATGTTTTATATATTTATAGAAATATAATATATATTTTATA TATTTATAGAAATATAATATATATTTTATATATTTATAGAAATATAATAT ATATTTTATATATTTATAGAAATATAATATATATTTTATATATTTATAGA AATATAATATATATTTTATATATTTATAGAAATATAATATATATTTTATA TATTTATAGAAATATAATATATATTTTATATATTTATAGAAATATAATAT ATATTTTATATATTTATAGAAATATAATATATATTTTATATATTTATAGA AATATAATATATATTTTATATATTTATAGAAATATAATATATATTTTATA TATTTATAGAAATATAATATATATTTTATATATTTATAGAAATATAATAT ATATTTTATATATTTATAGAAATATAATATATATTTTATAT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TMEM132C_chr12_128262170_128712911	128473161	T T	TTCACTCC others(512): Show TTCACTCCAGCCACTATCTTCATTTTCACTCCAGCCTCCATCTTCATCTT CGCTCCAGCCTCTATCTTTATCCTCACGCCAGCCTCTGTCTTCATCTGCA CTCCAGCTTCTATCTTCATCTTCAGTCCAGCCTCCATCTTTATCTTCACT CCAGTCTCCATCTTCAGTCCAGCCTCCATCTTTATCTTCACTCCAGTCTC TATCTTCCATCTTCAGTCCAGCCTCTATCTTCATCTTCACTCCAGCTTCC ATCTTTATCTTCACTCCAGTCTCTATCTTAATCTTCAGTCCAACCTCTCT CTTCATCTTCACTCCAGCCTCTCTCTTCATCCTCACTGCAGCCTCCATCT TCATCCTTACTTCAGCCTCTATCTTCATCCTCACTCCAGCCCCTACCTTC ATCTTCATGCCAGCCTCCATCTTCATCCTCACTCCAGCCTCTATCTTCGC CTTCACTCCAGCCTCTATCTTCATCCTCACTCCACCCCATCTTCATCTTC ACTCCACCCCATCTTCATCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18522.hp2 HG03516.hp1 NA18522.hp2	a0006 a0011 a0006 a0011	a0006c0020 a0011c0014 a0006c0020 a0011c0014	a0006c0020t0002 a0011c0014t0001 a0006c0020t0002 a0011c0014t0001	a0006c0020t0002g0143 a0011c0014t0001g0076 a0006c0020t0002g0143 a0011c0014t0001g0076	2	170	0.0118	519	c.974 others(538): Show c.974+57552_974+57553insACTATCTTCATTTTCACTCCAGCCTC CATCTTCATCTTCGCTCCAGCCTCTATCTTTATCCTCACGCCAGCCTCTG TCTTCATCTGCACTCCAGCTTCTATCTTCATCTTCAGTCCAGCCTCCATC TTTATCTTCACTCCAGTCTCCATCTTCAGTCCAGCCTCCATCTTTATCTT CACTCCAGTCTCTATCTTCCATCTTCAGTCCAGCCTCTATCTTCATCTTC ACTCCAGCTTCCATCTTTATCTTCACTCCAGTCTCTATCTTAATCTTCAG TCCAACCTCTCTCTTCATCTTCACTCCAGCCTCTCTCTTCATCCTCACTG CAGCCTCCATCTTCATCCTTACTTCAGCCTCTATCTTCATCCTCACTCCA GCCCCTACCTTCATCTTCATGCCAGCCTCCATCTTCATCCTCACTCCAGC CTCTATCTTCGCCTTCACTCCAGCCTCTATCTTCATCCTCACTCCACCCC ATCTTCATCTTCACTCCACCCCATCTTCATCCTCACTCCAGCC	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128473233	C C	CTCACGCC others(512): Show CTCACGCCAGCCTCTGTCTTCATCTGCACTCCAGCTTCTATCTTCATCTT CAGTCCAGCCTCCATCTTTATCTTCACTCCAGTCTCCATCTTCAGTCCAG CCTCCATCTTTATCTTCACTCCAGTCTCTATCTTCCATCTTCAGTCCAGC CTCTATCTTCATCTTCACTCCAGCTTCCATCTTTATCTTCACTCCAGTCT CTATCTTAATCTTCAGTCCAACCTCTCTCTTCATCTTCACTCCAGCCTCT CTCTTCATCCTCACTGCAGCCTCCATCTTCATCCTTACTTCAGCCTCTAT CTTCATCCTCACTCCAGCCCCTACCTTCATCTTCATGCCAGCCTCCATCT TCATCCTCACTCCAGCCTCTATCTTCGCCTTCACTCCAGCCTCTATCTTC ATCCTCACTCCACCCCATCTTCATCTTCACTCCACCCCATCTTCATCCTC ACTCCAGCCTCCATCTTCATCCTCACTCCAGCCTCCATCTTCATCTTCAC TCCAGCCTCCGTCTTCATCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03139.hp1 HG03225.hp1 others(1): Show HG02280.hp1 HG03139.hp1 HG03225.hp1 HG04228.hp1	a0001 a0004 a0017 a0001 a0004 a0017	a0001c0001 a0004c0008 a0017c0029 a0001c0001 a0004c0008 a0017c0029	a0001c0001t0001 a0004c0008t0010 a0004c0008t0013 others(1): Show a0001c0001t0001 a0004c0008t0010 a0004c0008t0013 a0017c0029t0007	a0001c0001t0001g0027 a0004c0008t0010g0006 a0004c0008t0013g0091 others(1): Show a0001c0001t0001g0027 a0004c0008t0010g0006 a0004c0008t0013g0091 a0017c0029t0007g0138	4	170	0.0235	519	c.974 others(538): Show c.974+57614_974+57615insCACGCCAGCCTCTGTCTTCATCTGCA CTCCAGCTTCTATCTTCATCTTCAGTCCAGCCTCCATCTTTATCTTCACT CCAGTCTCCATCTTCAGTCCAGCCTCCATCTTTATCTTCACTCCAGTCTC TATCTTCCATCTTCAGTCCAGCCTCTATCTTCATCTTCACTCCAGCTTCC ATCTTTATCTTCACTCCAGTCTCTATCTTAATCTTCAGTCCAACCTCTCT CTTCATCTTCACTCCAGCCTCTCTCTTCATCCTCACTGCAGCCTCCATCT TCATCCTTACTTCAGCCTCTATCTTCATCCTCACTCCAGCCCCTACCTTC ATCTTCATGCCAGCCTCCATCTTCATCCTCACTCCAGCCTCTATCTTCGC CTTCACTCCAGCCTCTATCTTCATCCTCACTCCACCCCATCTTCATCTTC ACTCCACCCCATCTTCATCCTCACTCCAGCCTCCATCTTCATCCTCACTC CAGCCTCCATCTTCATCTTCACTCCAGCCTCCGTCTTCATCTT	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNK2_chr3_195858364_195913551	195881139	G G	GTGCCCCT others(512): Show GTGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAACACCCGCCCCCAG CGATGCCCCTTGGAGAGGACACAGGATCTGTCCCTCTAACACCCCCCCCA GCAACGCCCCTTGAAGAGGACACGGCATCTATCCCTGTAACACCCCCCCC AGCGATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAACACCCCCCC AGCGATGCCCCTTGAAGAGGACACGGCATCTATCCCTGTAACACCCCCCC CAGCGATGCCCCTTGGAGAGGACACAGCATCTATCCTTGTAACACCCCCC CGCCAGCAATGCCCCTTGGAGAGGACACAGCATCTAACCCTGTAACACCC GCCCCCCAGCAGTGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAACA CCCCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAA CACCCCCCCCCCAGCAATGCCCCTTAGAGAGGACACAGCATCTAACCCTG TAACACCCGCCCCCCAGCAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0169 a0001c0003t0001g0169	1	372	0.0027	519	c.887 others(534): Show c.887+911_887+912insTTGCTGGGGGGCGGGTGTTACAGGGTTAGA TGCTGTGTCCTCTCTAAGGGGCATTGCTGGGGGGGGGGTGTTACAGGGAT AGATGCTGTGTCCTCTCCAAGGGGCATTGCTGGGGGGGGGTGTTACAGGG ATAGATGCTGTGTCCTCTCCAAGGGGCACTGCTGGGGGGCGGGTGTTACA GGGTTAGATGCTGTGTCCTCTCCAAGGGGCATTGCTGGCGGGGGGGTGTT ACAAGGATAGATGCTGTGTCCTCTCCAAGGGGCATCGCTGGGGGGGGTGT TACAGGGATAGATGCCGTGTCCTCTTCAAGGGGCATCGCTGGGGGGGTGT TACAGGGATAGATGCTGTGTCCTCTCCAAGGGGCATCGCTGGGGGGGGTG TTACAGGGATAGATGCCGTGTCCTCTTCAAGGGGCGTTGCTGGGGGGGGT GTTAGAGGGACAGATCCTGTGTCCTCTCCAAGGGGCATCGCTGGGGGCGG GTGTTACAGGGATAGATGCTGTGTCCTCTCCAAGGGGCA	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TP53AIP1_chr11_128930370_128947871	128930908	C C	CGGGGTTA others(512): Show CGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAG GGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGG CCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGGTTAGGGAGACCA AGGGTCAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGC CAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGG GGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCAGGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0143 a0001c0001t0018g0143	1	466	0.0022	519	c.46 others(530): Show c.4682_*4683insTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAAC CCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCC TGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCT AACCCCAGCCTCCCTAACCCCGGCCTCCCTGACCCTTGGTCTCCCTAACC CCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCA GCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTC CCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA CCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4461		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930961	T T	TGGAGGCT others(512): Show TGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGA GGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCC GGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGG TTAGGGAGGCAGGGATTATGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGG GAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCAG GGATTATGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGC TGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCAGGGGTTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03225.hp2 HG02818.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0029 a0002c0002t0001g0050 a0001c0001t0001g0029 a0002c0002t0001g0050	2	466	0.0043	519	c.46 others(530): Show c.4629_*4630insCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTA ACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCC TGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TAACCCCAGCCTCCCTAACCCCAGCCTCCATAATCCCTGCCTCCCTAACC CCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTG GCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCT CCCTAACCCCAGCCTCCATAATCCCTGCCTCCCTAACCCCTGGCCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC CTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGG CCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4408		chr11	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(512): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC CTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCTTCTTTCTTCCCTCC TGCCTTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTC CCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCT TCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCT CCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCC CTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCC TCCTTCCTCCCTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTC CTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19070.hp1 NA18957.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0256 a0001c0002t0001g0257	2	334	0.0060	519	c.657 others(534): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC TTCTTTCTTCCCTCCTGCCTTCCCCCTTCCTCCCTCCCCCCTTCCTCCCT CCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCT TCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCC CTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCC CTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCC CTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTACC CCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCTCCTTCCTCCCTC CTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTLL8_chr22_50013575_50063298	50029267	A A	ATCCTGAA others(512): Show ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGA AGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCC ACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACC CTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAA AGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCC ATCACACCGTCCTAAAGACCCCCACACACCCTCGTAAAGACCCCATCACA CCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCT GAAGACCCCACACACACTCGTAAAGACCCCCATCACACCGTCCTGAAGAC CCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACA CACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACACTC GTAAAGACCCCATCACACCG	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18747.hp2 HG02135.hp2 NA18747.hp2	a0002 a0014 a0002 a0014	a0002c0002 a0014c0024 a0002c0002 a0014c0024	a0002c0002t0001 a0014c0024t0001 a0002c0002t0001 a0014c0024t0001	a0002c0002t0001g0181 a0014c0024t0001g0182 a0002c0002t0001g0181 a0014c0024t0001g0182	2	224	0.0089	519	c.225 others(538): Show c.2251+1162_2251+1163insCGGTGTGATGGGGTCTTTACGAGTGT GTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGG GGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTC AGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGAT GGGGTCTTTACGAGGGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGA GGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTG TGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTC TTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA TGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870126	A A	ACACACCA others(512): Show ACACACCACACAAACCACACACCCCACACACACCACACACACCACACCCC ACACACACCACACACCCCACACACACCACACACCCCCCCACACCACACCC CATACACACCACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCA CACACCCCCCACACACCACACCCCATACACACCACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACACCCCCCA CACACCACACCCCACACACACCACACACCCCCCACACACCACACACCATA CACACCACACCCCACACACACCACACCCCCCACACACCACACCCCACACA CCACACCCCACACACACCACACACCACACACACCACACCCCATACACACC ACACCCCATACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACCACACACCC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	338	0.0030	519	c.35 others(538): Show c.35+21398_*35+21399insCACACAAACCACACACCCCACACACA CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACA CCCCCCCACACCACACCCCATACACACCACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACACCCCACACACAC CACACCCCACACACACCACACACCCCCCACACACCACACCCCATACACAC CACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACACCCCCCACACACCACACCCCACACACACCACACACCCCC CACACACCACACACCATACACACCACACCCCACACACACCACACCCCCCA CACACCACACCCCACACACCACACCCCACACACACCACACACCACACACA CCACACCCCATACACACCACACCCCATACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACCACACACCCCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870214	C C	CCCCCACA others(512): Show CCCCCACACCACACCCCATACACACCACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACACCCCCCACACACCACACCCCATACACACCA CACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCCCACACACCACACCCCACACACACCACACACCCCCCA CACACCACACACCATACACACCACACCCCACACACACCACACCCCCCACA CACCACACCCCACACACCACACCCCACACACACCACACACCACACACACC ACACCCCATACACACCACACCCCATACACACCACACCCCACACACACCAC ACCCCACACACCACACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACCCCCCACACACCACACCCCACACACACCACACAC ACCACACACACCACACACCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	338	0.0030	519	c.35 others(538): Show c.35+21482_*35+21483insCCCACACCACACCCCATACACACCAC ACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACCCCACACACACCACACACCCCCCAC ACACCACACCCCATACACACCACACACCACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACACCCCCCACACACCACACCC CACACACACCACACACCCCCCACACACCACACACCATACACACCACACCC CACACACACCACACCCCCCACACACCACACCCCACACACCACACCCCACA CACACCACACACCACACACACCACACCCCATACACACCACACCCCATACA CACCACACCCCACACACACCACACCCCACACACCACACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCCCACACACC ACACCCCACACACACCACACACACCACACACACCACACACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
VIPR2_chr7_159023175_159149867	159129265	T T	TGGTGGGG others(512): Show TGGTGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACT GGCCTCTGGGGGGGACAGGGCTGGGGGGACAGGGCCAGGTGACCAGCTTC ACACTCTGTTCCCTCAAACTGGACTCTGGTGGGGACAGGGCCAGGTGACC AGCTTCACACTCTGTTCCCTCAAACTGGACTCTGGTGGGGACAGGGCTGG GGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGCC TCTGGGGGGGACAGGGCTGGGGGGACAGGGCCAGGTGACCAGCTTCACAC TCTGTTCCCTCAAACTGGACTCTGGTGGGGACAGGGCCAGGTGACCAGCT TCACACTCTGTTCCCTCAAACTGGCCTCTGGTGGGGACAGGGCTGGGGGG ACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGACTCTG GTGGGGACAGGGCTGGGGGGACAGGGCCAGGTGACCAGCTTCACACTCTG TTCCCTCAAACTGGCCTCTG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0309 a0001c0004t0004g0309	1	336	0.0030	519	c.151 others(538): Show c.151+13180_151+13181insCAGAGGCCAGTTTGAGGGAACAGAGT GTGAAGCTGGTCACCTGGCCCTGTCCCCCCAGCCCTGTCCCCACCAGAGT CCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCCC AGCCCTGTCCCCACCAGAGGCCAGTTTGAGGGAACAGAGTGTGAAGCTGG TCACCTGGCCCTGTCCCCACCAGAGTCCAGTTTGAGGGAACAGAGTGTGA AGCTGGTCACCTGGCCCTGTCCCCCCAGCCCTGTCCCCCCCAGAGGCCAG TTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCCCAGCC CTGTCCCCACCAGAGTCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCAC CTGGCCCTGTCCCCACCAGAGTCCAGTTTGAGGGAACAGAGTGTGAAGCT GGTCACCTGGCCCTGTCCCCCCAGCCCTGTCCCCCCCAGAGGCCAGTTTG AGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCACC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(512): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCC CTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTC TCCCCTCCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCC CTCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCC CCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTT TCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0190 a0001c0001t0004g0190	1	246	0.0041	519	c.53- others(532): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCC TCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCC CTCCTCTCCCCTCCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCC CTCCCCCTCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCC TCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTC CCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCT CCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(512): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCC CTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTC TCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCC CTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTT TCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0165 a0001c0001t0023g0165	1	246	0.0041	519	c.53- others(532): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCC TCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCC CTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCT CTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCCTCCCCCTCCCCTC CCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCT CCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(512): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTC CCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTT TCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0131 a0002c0002t0004g0131	1	246	0.0041	519	c.53- others(532): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCT CCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCT CCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(512): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCCTCCCCTC CCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTC CCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTT TCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0216 a0002c0002t0001g0216	1	246	0.0041	519	c.53- others(532): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCCT CCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCT CCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCT CCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR87_chr19_37879823_37911594	37881089	A A	ATATAATA others(512): Show ATATAATATATATATATTATATATATAATATATATATATTATATATATAT ATATAATATATATAATATATATATAATATATATATATTATATATATTATA TATATTATATATATTATATATATATTATATATATATTATATATATATAAT ATATATAATATATATATAATATATATTATATATATAATATATATATATTA TATATATAATATATATATTTAATATATATATTATATATAATATATATATT ATATATATAATATATATATTTAATATATATTATATATATAATATATATAT TATATATATAATATATATTTAATATATATATTATATATATAATATATATA TTATATATATATAATATATATATTTAATATATATAATATATATATAATAT ATATTATATATATAATATATATATTTAATATATATTATATATATAATATA TATATTATATATATAATATATATATAATATATATATTATATATATAATAT ATATATTATATATATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA19080.hp1 NA18975.hp2 NA19080.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0016 a0003c0009t0001g0183 a0003c0009t0001g0016 a0003c0009t0001g0183	2	330	0.0061	519	c.38 others(530): Show c.3842_*3843insATAATATATATATAATATATATATTATATATATA ATATATATATTATATATATATTATATATATAATATATATATTATATATAT AATATATATTAAATATATATATTATATATATAATATATATTATATATATA TTATATATATTAAATATATATATTATATATATATAATATATATATTATAT ATATAATATATATATTAAATATATATTATATATATAATATATATATTATA TATATAATATATATTAAATATATATATTATATATATAATATATATATTAT ATATAATATATATATTAAATATATATATTATATATATAATATATATATAT TATATATATAATATATATTATATATATATTATATATATTATATATATATA ATATATATATAATATATATATAATATATATAATATATATAATATATATAA TATATATATATTATATATATATTATATATATTATATATATATATATAATA TATATATATTATATATATAATATATATATATTATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3733		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919189	A A	ATACAAGT others(512): Show ATACAAGTATATATATATACTTGTATATATATACAAGTATATATATACTT GTATACATATATACTATATATATACATATATACACATATATACGTATATA TATGTATATATACGTATATACATGTATATACACGTATATACATGTATATA TATGTATATACACATATATACATGTATATATACGTATATATACACATATA TACATGTATATATATACGTATATATACACATATATACATGTATATATATA CGTATATATACACGTATATATACACGTATATACATGTATATATATATACG TATATATACGTGTATATATATACGTATATATACGTATATATACGTGTATA TATATACGTATATATACGTATATATACGTGTATATATATACGTATATATA CGTATATATACGTGTATATATATACGTATATATACGTATATATACGTATA TATACATATATACATGTATATATATATACGTATATACACATATATATACA TGTATATATATATGTGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG02055.hp1 HG01123.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0176 a0001c0001t0001g0177	2	383	0.0052	519	c.-42 others(530): Show c.-4212_-4211insTACAAGTATATATATATACTTGTATATATATACA AGTATATATATACTTGTATACATATATACTATATATATACATATATACAC ATATATACGTATATATATGTATATATACGTATATACATGTATATACACGT ATATACATGTATATATATGTATATACACATATATACATGTATATATACGT ATATATACACATATATACATGTATATATATACGTATATATACACATATAT ACATGTATATATATACGTATATATACACGTATATATACACGTATATACAT GTATATATATATACGTATATATACGTGTATATATATACGTATATATACGT ATATATACGTGTATATATATACGTATATATACGTATATATACGTGTATAT ATATACGTATATATACGTATATATACGTGTATATATATACGTATATATAC GTATATATACGTATATATACATATATACATGTATATATATATACGTATAT ACACATATATATACATGTATATATATATGTGTATG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4061		chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975544	T T	TATAAATA others(513): Show TATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAA TATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATA AATATATCAATATTTTTATATTTATAAATATATCAATATTTTTATATTTA TAGATAAATATATCAATATTTTTATATTTATAGATAAATATATCAATATA TAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATATA TAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATA TAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0285 a0001c0007t0001g0285	1	306	0.0033	520	c.130 others(539): Show c.1308+1032_1308+1033insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TGATATATTTATCTATAAATATAAAAATATTGATATATTTATCTATAAAT ATAAAAATATTGATATATTTATAAATATAAAAATATTGATATATTTATAA ATATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTAT AAATATAAAAATATTTATATATTTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ADAMTS3_chr4_72275969_72574221	72549962	A A	AAAAGAAG others(513): Show AAAAGAAGAAGAAGAAAGAAGAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAGA AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0001 a0008c0019t0001	a0008c0019t0001g0119 a0008c0019t0001g0119	1	182	0.0055	520	c.98- others(535): Show c.98-1079_98-1078insCTTCTTCTTCTTCTTCTTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTCTCTTCTT TCTTCTTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTCTTCTTTCTTCTTCTTCTTT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADGRB1_chr8_142444649_142550007	142516169	A A	AGCCCCAG others(513): Show AGCCCCAGGTGCGTGCGTGTGTGGGGGCCCCAGGTGCATGCATGTGTGCG GGCCCCAGGTGTGTGTGTGCGTGTGCGGGCCCCAGGTGCGTGCGTCTGTG CGGGCCCCAGTTGCGTGTGTGCGGGCCCCAGGTGCATGCGTGTGTGCGGG CCCCAGGTGCATGCGTGTGTGCGGGCCCCAGGTGCGTGCGTGTGTGCGGG CCCCAGGTGCGTGCATCTGTGTGGGCCCCAGTTGCGTGTGTGTGGGCCCC AGGTGTGCGTGTGTGCGGGCCCCAGGTGCGTGTGTCTGTGCGGGCCCCAG ATGTGTGTGTGTGCGCGCGCGTGTGTGCGGGCCCCAGGTGCGTGCGTGTG CGGGTCCCAGGTGCGTGCATCTGTGTGGGCCCCAGGTGCATGTGTGTGTG TGTGGGCCCCAGGGGCATGCGTGTGTGTGCAGGCCACAGGTGTGTGTGTG TGTGTGCATGTGTGCGGGTCCCAGGTGTGTGTGTGTGTGTGTGTGGGTCC CAGGTGCGTGCCTGTGTGCGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	310	0.0032	520	c.281 others(539): Show c.2818-1929_2818-1928insATGTGTGCGGGCCCCAGGTGTGTGTG TGCGTGTGCGGGCCCCAGGTGCGTGCGTCTGTGCGGGCCCCAGTTGCGTG TGTGCGGGCCCCAGGTGCATGCGTGTGTGCGGGCCCCAGGTGCATGCGTG TGTGCGGGCCCCAGGTGCGTGCGTGTGTGCGGGCCCCAGGTGCGTGCATC TGTGTGGGCCCCAGTTGCGTGTGTGTGGGCCCCAGGTGTGCGTGTGTGCG GGCCCCAGGTGCGTGTGTCTGTGCGGGCCCCAGATGTGTGTGTGTGCGCG CGCGTGTGTGCGGGCCCCAGGTGCGTGCGTGTGCGGGTCCCAGGTGCGTG CATCTGTGTGGGCCCCAGGTGCATGTGTGTGTGTGTGGGCCCCAGGGGCA TGCGTGTGTGTGCAGGCCACAGGTGTGTGTGTGTGTGTGCATGTGTGCGG GTCCCAGGTGTGTGTGTGTGTGTGTGTGGGTCCCAGGTGCGTGCCTGTGT GCGGGCCCCAGGTGCGTGCGTGTGTGGGGGCCCCAGGTGCATGC	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	18/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
AHRR_chr5_316714_443285	344764	T T	TGTGTGTG others(513): Show TGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGA GGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGA GGCTGTGGGGGGCTGTGTGTGGGGGGTGTGTGTGTGAGGCTGTGTGTGCG CGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGTGAGGC TGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGT GTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTG TGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTG TGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGG CTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGG CTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGTGCT GGGGGAGCTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0261 a0001c0001t0060g0261	1	268	0.0037	520	c.62+ others(533): Show c.62+809_62+810insTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGT GTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGT GTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGGGTGTGTGTGTGAGGCTG TGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTG TGTGAGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGG GGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGT GTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTG TGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGT GTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGT GTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTG TGTGTGCTGGGGGAGCTGTGTGTGTGTGGGTGTGTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	344764	T T	TGTGTGTG others(513): Show TGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGA GGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGA GGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCG CGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGC TGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGT GTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTG TGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTG TGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGG CTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGG CTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGTGCT GGGGGAGCTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0016 a0001c0001t0059g0016	1	268	0.0037	520	c.62+ others(533): Show c.62+809_62+810insTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGT GTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGT GTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTG TGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTG TGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGG GGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGT GTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTG TGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGT GTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGT GTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTG TGTGTGCTGGGGGAGCTGTGTGTGTGTGGGTGTGTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	344764	T T	TGTGTGTG others(513): Show TGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGA GGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGA GGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCG CGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGTGAGGC TGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGT GTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTG TGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTG TGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGG CTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGG CTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGTGCT GGGGGAGCTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01169.hp1 HG02055.hp2 others(2): Show HG01081.hp2 HG01169.hp1 HG02055.hp2 HG02451.hp1 NA18906.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0005c0005t0039	a0001c0001t0001g0256 a0001c0001t0003g0258 a0001c0001t0003g0260 others(2): Show a0001c0001t0001g0256 a0001c0001t0003g0258 a0001c0001t0003g0260 a0002c0002t0001g0255 a0005c0005t0039g0250	5	268	0.0187	520	c.62+ others(533): Show c.62+809_62+810insTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGT GTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGT GTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTG TGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTG TGTGAGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGG GGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGT GTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTG TGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGT GTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGT GTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTG TGTGTGCTGGGGGAGCTGTGTGTGTGTGGGTGTGTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGAP19_chr10_97217179_97297637	97251740	G G	GGAAGGGG others(513): Show GGAAGGGGAATGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAGGGAAGG GGGAGGGGAAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGAAGGGGGAGGGGAAGGGGAAAGGAAGGGGAAGGGGGGG GGAAAGGAAGGGGAAGGGGGAGGGAAAGGAAAGGGGAATGGAAGGGAAGG GAAAGGAAGGGGAAGGGAAGGGGAAGGGGAGGAGAAGGGGAAGGGGAAGG GAAAAGGAAGGAGGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAG GGGAGGGGAAGGGGGAGGGGAAGGGGAAAGGAAGGGGAAGGGGGGGGGAA AGGAAGGGGAAGGGGGAGGGAAAGGAAAGGGGAATGGAAGGGAAGGGAAA GGAAGGGGAAGGGAAGGGGAAGGGGAGGAGAAGGGGAAGGGGAAGGGAAA AGGAAGGAGAAGAGGAAGGGAAGGGGAGGGGAAGGCAAGGGGAAAGGAAG GAAGGGGGAGGGGAAGGGGAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	242	0.0041	520	c.927 others(537): Show c.927+4577_927+4578insTTCCCCTTCCCCTCCCCCTTCCTTCCTT TCCCCTTGCCTTCCCCTCCCCTTCCCTTCCTCTTCTCCTTCCTTTTCCCT TCCCCTTCCCCTTCTCCTCCCCTTCCCCTTCCCTTCCCCTTCCTTTCCCT TCCCTTCCATTCCCCTTTCCTTTCCCTCCCCCTTCCCCTTCCTTTCCCCC CCCCTTCCCCTTCCTTTCCCCTTCCCCTCCCCCTTCCCCTCCCCTTCCCC TCCCCCTTCCCCTCCCCCTTCCCCTCCCCCCTCCTTCCTTTTCCCTTCCC CTTCCCCTTCTCCTCCCCTTCCCCTTCCCTTCCCCTTCCTTTCCCTTCCC TTCCATTCCCCTTTCCTTTCCCTCCCCCTTCCCCTTCCTTTCCCCCCCCC TTCCCCTTCCTTTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCC CCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCCTCCCCCTTCCC TTTCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATTCCCCTTC	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGEF10_chr8_1818926_1963641	1955149	A A	ATGGGTAG others(513): Show ATGGGTAGCCAGGTGCTTCCTGAAAGGAGGTGCACTCTCACTGTTCCTCT GGAGGATAGCCAGGTGCATCCTGGAAGGAGGCACACTCTCACAGTTTCTC TGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGCGCACTCTCACTGTTTG TCTGGATGGGTAGCTAGGTGCATCCTGAAAGGAGGTGCACTCTCACTGTT TCTCTGGATGGGTAGCGAGGTGCTCCCTGAAAGGAGGTGCACTCACTGTG TTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCTCAC TGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCAC TGTGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTC TCACTGTTTCTCTGGATGGGTAGCTAGGAGCATCCTGAAAGGAAGTGCAC TCTCACTGTTCCTCTGGATGGGTAGCTAGGAGCATCCTGAAAGGAGGTGC ACTCTCACTGTTTCTCTGGAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0008 a0008	a0008c0049 a0008c0049	a0008c0049t0006 a0008c0049t0006	a0008c0049t0006g0001 a0008c0049t0006g0001	2	363	0.0055	520	c.352 others(539): Show c.3521-1600_3521-1599insTGGGTAGCCAGGTGCTTCCTGAAAGG AGGTGCACTCTCACTGTTCCTCTGGAGGATAGCCAGGTGCATCCTGGAAG GAGGCACACTCTCACAGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAA AGGAGGCGCACTCTCACTGTTTGTCTGGATGGGTAGCTAGGTGCATCCTG AAAGGAGGTGCACTCTCACTGTTTCTCTGGATGGGTAGCGAGGTGCTCCC TGAAAGGAGGTGCACTCACTGTGTTTCTCTGGATGGGTAGCTAGGTGCTC CCTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGATGGGTAGCTAGGTGC TCCCTGAAAGGAGGTGCACTCACTGTGTTTCTCTGGATGGGTAGCTAGGT GCTCCCTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGATGGGTAGCTAG GAGCATCCTGAAAGGAAGTGCACTCTCACTGTTCCTCTGGATGGGTAGCT AGGAGCATCCTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGAT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28			chr8	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(513): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACAGATCTGTATACATATGTGTATACATATCTGTATACAT ATCTGTATACATATGTATACATATCTGTATACATATGTGTATACAGATCT GTATACATATGTATATACAGATCTGTATACATATGTATACATATCTGTAT ACATATGTGTATACATATCTGTATACATATGTGTATACAGATCTGTATAC ATATGTGTATACAGATCTGTATACATATGTATACATATCTGTATACATAT GTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	342	0.0029	520	c.366 others(537): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATCTGTATACACATATGTATACA GATCTGTATACACATATGTATACAGATATGTATACACATATGTATACAGA TATGTATACATATGTATACAGATCTGTATATACATATGTATACAGATCTG TATACACATATGTATACAGATATGTATACATATGTATACAGATATGTATA CAGATATGTATACACATATGTATACAGATCTGTATACACATATGTATACA GATATGTATACACATATGTATATACAGATATGTATACACATATGTATATA CAGATATGTATACACATATGTATACAGATATGTATACATATGTATACAGA TATGTATATACATATGTATACAGATATGTATATACATATGTATACAGATA TGTATACATATGTATACAGATATGTATATACATATGTATACAGATATGTA TATACAGATATGTATACAGATATGTATATACAGATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
CCDC6_chr10_59783747_59911556	59882253	G G	GGAAAGCC others(513): Show GGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAG CCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGC GGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAG AAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGG AAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAG GAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAA GCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCG GGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGAAAAGCCGCGGGGA GAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAG GAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAA GGAAAGCCGGGGAGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0286 a0001c0003t0030g0286	1	288	0.0035	520	c.303 others(539): Show c.303+23868_303+23869insTTTCCTTCTCCCCGGCTTTCCTTTCC TTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCT CCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCC GCGGCTTTTCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCT TTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTC CTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTC TCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC CGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGCGGC TTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTC CTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC77_chr12_396644_447642	419980	T T	TACACATA others(513): Show TACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACACTCCATGTTC CATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATA CACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCCTCCATGTTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACAC ACATAGCAGCACACTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACAC ATAGCAGCACACTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAATAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0275 a0001c0001t0004g0275	1	432	0.0023	520	c.413 others(537): Show c.413+1358_413+1359insCCTCCATGCTCCATTACAGTGCACTTCT GTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACACTC CATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGG TAAAATACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGT GTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCCTCC ATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT AAAACACACATAGCAGCACACTCCATGTTCCATTACAGTGCTCTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCAT GTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA AACACACATAGCAGCACACTCCATGTTCCATTACAGTGCTCTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCAC	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDH4_chr20_61247261_61945617	61565358	G G	GGGAGGTG others(513): Show GGGAGGTGGTGGTGGTGGTGCTCTTGGTGGTGGTGGCGGTGCTCTCGGTG GTAGGTGGTGGTGGTGGTGGTCGCGGTGCTCTTGGTGGTGGTGGTAGTGG TCCTCTTGGTGATGGGGAGGTGGTGGTGGTGGTGCTCTTGGTGGTGGCGG TGCTCTTGGTGATGGTGGTGGTGGTCCTCTTGGTGATGGGGAGGTGGTGG TGGTGGTGCTCTTGGTGGTGGCGGTGCTCTTGGTGGTGGTGGTAGTGGTC CTCTTGGTGATGGGGAGGTGATGGTGGTGGTGCTCTTGGTGGTGGTGGCG GTGCTCTTGGTGGTAGGTGGTGGTGGTGGTGGTGGCGGTGCTCTTGGTGG TAGGTGGTGGTGGTGGTGGTGGTGGTGGTCGCGGTGCTCTTGGTGGTGGT GGTAGTGGTCCTCTTGGTGATGGGGAGGTGGTGGTGGTGGTGCTCTTGGT GGTGGCGGTGCTCTTGGTGATGGTGGTGGTGGTCCTCTTGGTGATGGGGT GATGGTGGTGGCGGTGCTCTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0083 a0001c0001t0051g0083	1	106	0.0094	520	c.170 others(541): Show c.170-178203_170-178202insAGGTGGTGGTGGTGGTGCTCTTGG TGGTGGTGGCGGTGCTCTCGGTGGTAGGTGGTGGTGGTGGTGGTCGCGGT GCTCTTGGTGGTGGTGGTAGTGGTCCTCTTGGTGATGGGGAGGTGGTGGT GGTGGTGCTCTTGGTGGTGGCGGTGCTCTTGGTGATGGTGGTGGTGGTCC TCTTGGTGATGGGGAGGTGGTGGTGGTGGTGCTCTTGGTGGTGGCGGTGC TCTTGGTGGTGGTGGTAGTGGTCCTCTTGGTGATGGGGAGGTGATGGTGG TGGTGCTCTTGGTGGTGGTGGCGGTGCTCTTGGTGGTAGGTGGTGGTGGT GGTGGTGGCGGTGCTCTTGGTGGTAGGTGGTGGTGGTGGTGGTGGTGGTG GTCGCGGTGCTCTTGGTGGTGGTGGTAGTGGTCCTCTTGGTGATGGGGAG GTGGTGGTGGTGGTGCTCTTGGTGGTGGCGGTGCTCTTGGTGATGGTGGT GGTGGTCCTCTTGGTGATGGGGTGATGGTGGTGGCGGTGCTCTTGG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(513): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCT CCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCC CCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTT CCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCT CCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTC CCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCC TCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCC CTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCC CCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTT CCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01346.hp2 HG01952.hp2 others(1): Show HG01123.hp1 HG01346.hp2 HG01952.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0001 a0001c0002t0001g0007	4	354	0.0113	520	c.69 others(531): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCT CCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTC CCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTT CTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCC TCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCC TTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCC TTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCC CTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCC CCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCT CCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20357451	A A	ACTGAGGG others(513): Show ACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACA GTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGAGGAG GTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAAGTAGTCAC ACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATA CTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGG AGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAC TGTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGA GGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACA CTGAGGGGAGGTGGTCATACT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01993.hp2 others(1): Show HG00323.hp1 HG00738.hp1 HG01993.hp2 HG02293.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0031 a0001c0003t0001g0164 a0001c0003t0001g0211 others(1): Show a0001c0003t0001g0031 a0001c0003t0001g0164 a0001c0003t0001g0211 a0001c0003t0001g0221	4	236	0.0170	520	c.351 others(539): Show c.3514-2759_3514-2758insCTGAGGGGAGGTGGTCACAGTGTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGT CACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCAT ACTGTGAGTGAGGAAGTAGTCACACTGAGGGGAAGTGGTCACACTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGT CACACTGAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGTCACACTGTGA AGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTC ACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGGG GAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGT CACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCATACT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357482	G G	GGTGGTCA others(513): Show GGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTG TGAGTGAGGAAGTAGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACA CTGAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGTCACACTGTGAAGGG TGGTAGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACAC TGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGGGGAGG TGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACA CTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGG AGGTAGTCACACTGAGGGGAA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18981.hp1 NA18970.hp2 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0051 a0002c0002t0001g0029 a0002c0002t0001g0051	2	236	0.0085	520	c.351 others(539): Show c.3514-2719_3514-2718insGTGTGAGGGGAGGTGGTCACACTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGT CACACTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGG AGGTGGTCATACTGTGAGTGAGGAAGTAGTCACACTGAGGGGAAGTGGTC ACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTG AGGAGGTAGTCACACTGAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGT CACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACTGAGG GGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTC ACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAG GGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCA TACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAAGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL17A1_chr10_104026286_104090880	104036113	T T	TATATGTG others(513): Show TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGCAGTGTGAGTATG GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGT ATGACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGA GTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGT ATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAG TGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTG TGTGTATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTG AGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTG AGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTG TGTGTGTGTATGGGAGTGTGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03195.hp2 HG02109.hp2 HG03195.hp2	a0013 a0013	a0013c0027 a0013c0044 a0013c0027 a0013c0044	a0013c0027t0003 a0013c0044t0003 a0013c0027t0003 a0013c0044t0003	a0013c0027t0003g0250 a0013c0044t0003g0290 a0013c0027t0003g0250 a0013c0044t0003g0290	2	336	0.0060	520	c.341 others(537): Show c.3418+378_3418+379insTCACACTCCCATACACACACACACTCAC TCCCATACACACACACCCATACTCACACTCCCATACACACACTCACTCCC ATACACACACACACCCATACTCACACTCCCATACACACACACTCACTCCC ATACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCAT ACTCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCAT ACACAACCCATACTCACACTCACTCCCATACACACACACCCATACACTCC CATACACACACTCACTCCCATACACCCATACACACATCCATACTCACACT CCCATACACACACTCCCATACACACACACCCATACACAGTCATACACACA CCCCATACACTCCCATACACACACACTCTCCCATACACACACCCATACTC ACACTGCCATACACACACCCATACGCACACTCCCACTCACACTCACTCCC ATACACTCCCATAGACACACACACTCCCATACACACACATAT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL17A1_chr10_104026286_104090880	104036113	T T	TATATGTG others(513): Show TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGT ATGACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGA GTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGT ATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAG TGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTG TGTGTATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTG AGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTG AGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTG TGTGTGTGTATGGGAGTGTGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG00621.hp2 others(63): Show HG00280.hp1 HG00609.hp2 HG00621.hp2 HG00738.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01192.hp2 HG01346.hp2 HG01891.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02056.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02280.hp2 HG02300.hp1 HG02559.hp1 HG02615.hp2 HG02647.hp2 HG02738.hp2 HG02896.hp1 HG02970.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03490.hp1 HG03579.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 NA18747.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp2 NA18954.hp2 NA18959.hp1 NA18965.hp2 NA18966.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18989.hp1 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19010.hp1 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19066.hp1 NA19079.hp1 NA19240.hp1 NA20752.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0012 a0014 a0020 a0029	a0001c0001 a0002c0007 a0003c0003 others(13): Show a0001c0001 a0002c0007 a0003c0003 a0004c0009 a0005c0005 a0006c0019 a0007c0011 a0007c0034 a0007c0038 a0008c0013 a0010c0028 a0010c0029 a0012c0025 a0014c0022 a0020c0054 a0029c0033	a0001c0001t0001 a0001c0001t0002 a0002c0007t0001 others(15): Show a0001c0001t0001 a0001c0001t0002 a0002c0007t0001 a0003c0003t0001 a0003c0003t0002 a0004c0009t0001 a0005c0005t0001 a0006c0019t0001 a0007c0011t0001 a0007c0034t0001 a0007c0038t0001 a0008c0013t0001 a0010c0028t0001 a0010c0029t0004 a0012c0025t0001 a0014c0022t0001 a0020c0054t0001 a0029c0033t0001	a0001c0001t0001g0051 a0001c0001t0001g0091 a0001c0001t0001g0119 others(57): Show a0001c0001t0001g0051 a0001c0001t0001g0091 a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0225 a0001c0001t0002g0072 a0002c0007t0001g0179 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0015 a0003c0003t0001g0042 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0073 a0003c0003t0001g0076 a0003c0003t0001g0081 a0003c0003t0001g0084 a0003c0003t0001g0117 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0145 a0003c0003t0001g0152 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0158 a0003c0003t0001g0160 a0003c0003t0001g0162 a0003c0003t0002g0112 a0004c0009t0001g0234 a0005c0005t0001g0207 a0006c0019t0001g0178 a0006c0019t0001g0185 a0006c0019t0001g0300 a0007c0011t0001g0019 a0007c0011t0001g0189 a0007c0011t0001g0190 a0007c0011t0001g0192 a0007c0011t0001g0193 a0007c0034t0001g0264 a0007c0038t0001g0188 a0008c0013t0001g0183 a0008c0013t0001g0212 a0008c0013t0001g0213 a0008c0013t0001g0229 a0008c0013t0001g0231 a0008c0013t0001g0232 a0010c0028t0001g0254 a0010c0029t0004g0253 a0012c0025t0001g0106 a0012c0025t0001g0107 a0014c0022t0001g0210 a0014c0022t0001g0214 a0020c0054t0001g0105 a0029c0033t0001g0242	66	336	0.1964	520	c.341 others(537): Show c.3418+378_3418+379insTCACACTCCCATACACACACACACTCAC TCCCATACACACACACCCATACTCACACTCCCATACACACACTCACTCCC ATACACACACACACCCATACTCACACTCCCATACACACACACTCACTCCC ATACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCAT ACTCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCAT ACACAACCCATACTCACACTCACTCCCATACACACACACCCATACACTCC CATACACACACTCACTCCCATACACCCATACACACATCCATACTCACACT CCCATACACACACTCCCATACACACACACCCATACACAGTCATACACACA CCCCATACACTCCCATACACACACACTCTCCCATACACACACCCATACTC ACACTCCCATACACACACCCATACGCACACTCCCACTCACACTCACTCCC ATACACTCCCATAGACACACACACTCCCATACACACACATAT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL19A1_chr6_69861556_70217468	69920971	T T	TATATATG others(513): Show TATATATGATATATATCATATATACATATGATATATACATGATATATATG ATATATATGATACATATGATATATATGATATATATGATACATATGATATA TATGATATATATATGATACAAATGATATATATGATATATATGATATATAT CAGATATATATATGATATATATATCTGATATATATCATATATATCATATA TATCATTTGTATCATATATATATCATATATATCATATGTATCATATATAT CATGTATATATCATATATATCATATATATCATATATGTATTCATATATAT CATATATATTCATATATTATATATTCATATATATCATATATATTCATATA TATATCATATATATTCATATATATCATATATATTCATATATATCATATAT ATTCATATATATATCATATATATTCATATATATCATATATATTCATATAT ATATCATATATATTCATATATATATTCATATATATATCATATATATTCAT ATATATATTCATATATATATC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18997.hp2 NA19010.hp2 NA18948.hp1 NA18997.hp2 NA19010.hp2	a0002 a0006 a0002 a0006	a0002c0006 a0002c0011 a0006c0023 a0002c0006 a0002c0011 a0006c0023	a0002c0006t0007 a0002c0011t0005 a0006c0023t0042 a0002c0006t0007 a0002c0011t0005 a0006c0023t0042	a0002c0006t0007g0101 a0002c0011t0005g0142 a0006c0023t0042g0095 a0002c0006t0007g0101 a0002c0011t0005g0142 a0006c0023t0042g0095	3	182	0.0165	520	c.267 others(537): Show c.267-6936_267-6935insATATGATATATATCATATATACATATGA TATATACATGATATATATGATATATATGATACATATGATATATATGATAT ATATGATACATATGATATATATGATATATATATGATACAAATGATATATA TGATATATATGATATATATCAGATATATATATGATATATATATCTGATAT ATATCATATATATCATATATATCATTTGTATCATATATATATCATATATA TCATATGTATCATATATATCATGTATATATCATATATATCATATATATCA TATATGTATTCATATATATCATATATATTCATATATTATATATTCATATA TATCATATATATTCATATATATATCATATATATTCATATATATCATATAT ATTCATATATATCATATATATTCATATATATATCATATATATTCATATAT ATCATATATATTCATATATATATCATATATATTCATATATATATTCATAT ATATATCATATATATTCATATATATATTCATATATATATCAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(513): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT ATGATATATATGATACATATGATATATATGATATATATATGATACAAATG ATATATATGATATATATGATATATATCAGATATATATATCATATATATCA TATATATCATTTGTATCATATATATATCATATATATCATATGTATCATAT ATATCATGTATATATCATATATATCATATATATCATATATGTATTCATAT ATATCATATATATTCATATATCATATATATTCATATATATCATATATTCA TATATATCATATATATTCATATATATCATATATTCATATATATCATATAT ATTCATATATATATCATATATATTCATATATATATCATATATATTCATAT ATATATCATATATATTCATATATATATCATATATATTCATATATATATCA TATATATTCATATATATCATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18942.hp2 HG00558.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0003 a0001c0002t0002 a0001c0005t0003	a0001c0002t0002g0169 a0001c0005t0003g0140 a0001c0002t0002g0169 a0001c0005t0003g0140	2	182	0.0110	520	c.267 others(537): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATAT GATATATATGATACATATGATATATATGATATATATATGATACAAATGAT ATATATGATATATATGATATATATCAGATATATATATCATATATATCATA TATATCATTTGTATCATATATATATCATATATATCATATGTATCATATAT ATCATGTATATATCATATATATCATATATATCATATATGTATTCATATAT ATCATATATATTCATATATCATATATATTCATATATATCATATATTCATA TATATCATATATATTCATATATATCATATATTCATATATATCATATATAT TCATATATATATCATATATATTCATATATATATCATATATATTCATATAT ATATCATATATATTCATATATATATCATATATATTCATATATATATCATA TATATTCATATATATCATATATATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(513): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT ATGATATATATGATACATATGATATATATGATATATATATGATACAAATG ATATATATGATATATATGATATATATCAGATATATATATCATATATATCA TATATATCATTTGTATCATATATATATCATATATATCATATGTATCATAT ATATCATGTATATATCATATATATCATATATATCATATATGTATTCATAT ATATCATATATATTCATATATCATATATATTCATATATATCATATATTCA TATATATCATATATATTCGTATATATCATATATTCATATATATCATATAT ATTCATATATATATCATATATATTCATATATATATCATATATATTCATAT ATATATCATATATATTCATATATATATCATATATATTCATATATATATCA TATATATTCATATATATCATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0139 a0001c0002t0008g0139	1	182	0.0055	520	c.267 others(537): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATAT GATATATATGATACATATGATATATATGATATATATATGATACAAATGAT ATATATGATATATATGATATATATCAGATATATATATCATATATATCATA TATATCATTTGTATCATATATATATCATATATATCATATGTATCATATAT ATCATGTATATATCATATATATCATATATATCATATATGTATTCATATAT ATCATATATATTCATATATCATATATATTCATATATATCATATATTCATA TATATCATATATATTCGTATATATCATATATTCATATATATCATATATAT TCATATATATATCATATATATTCATATATATATCATATATATTCATATAT ATATCATATATATTCATATATATATCATATATATTCATATATATATCATA TATATTCATATATATCATATATATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(513): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAG GCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAA GGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0085 a0001c0003t0001g0085	1	344	0.0029	520	c.85- others(537): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGC CTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCC CTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(513): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAG GCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAA GGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0166 a0001c0037t0001g0166	1	344	0.0029	520	c.85- others(537): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGC CTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCC CTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL5A1_chr9_134636803_134849843	134685270	T T	TCATCCAT others(513): Show TCATCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCAT CTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCACCCATCCA TTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCATCC ATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCACCATCC ATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCATCC ATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCACCATCC ATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCCATGCAT CTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCTGTCCAT CCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATCCATCCA TTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCATCC ATTCATCCACCATCCATCCAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0247 a0001c0003t0014g0247	1	272	0.0037	520	c.110 others(537): Show c.110-5593_110-5592insCTGTCCATCCATCCATCCATCCGTCCAT CCACCATCCATTCACCCATCCATTCATCCATCCATCCACCATCCATCCAT TAATTCATCCATCCATCCATCCATCCATCCATTCATCCATCCACCATCCA TCCATCCATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCA CCATCCATCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCA TTCATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCC GTCCATCCATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTC ATTCATCCATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAC CATCCATTCACCCATCCATCCATTCATCCATCCATCCACCATCCATCCAT TAATTCATCCATCCATCCATCCATTCATCCACCATCCATCCACCATCCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	45981002	C C	CTCTCTCT others(513): Show CTCTCTCTGTCTCTGTCTCTCCTCTGTCTCTCCGTCTCTGTCTGTCTCTC CTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTGTCTCTGTCTTTGTCT CTGTCTCTCCTCTCTCTGTGTCTCTGTCTCTGTCTCTCTCTCTGTCTCTC TCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCCTCTGTCT CTCTGTGTCTGTCTCTCTGTCTCTGTCTTTCTGTCTCTCTCTCACTGTCT CTCTCTCTCTCTCTGTCTCTGTCTCTCTCTGTGTCTCTCTGTCTCTGTCT CTCACTGTCTCTCTCTCTCTGTCTCTCTGTCTCTCTGTCTCTCTGTGTCT CTCTGTCTCTGTCTCTCTGTCTCTGTCTCTCCTCTGTCTCTCTGTGTCTC TCTCTGTCTTTCTGTCTCTCTGTCTCTGTCTCTCTCCCTGTCTCTGTCTC TCCTCTGTCTCTCTGTGTCTCTGTCTGTCTCTCTGTCTTTCTGTCTCTCT CTCTGTCTCTCTCTGTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0007 a0001c0022t0007	a0001c0022t0007g0046 a0001c0022t0007g0046	1	128	0.0078	520	c.-84 others(529): Show c.-849_-848insTCTCTCTGTCTCTGTCTCTCCTCTGTCTCTCCGTCT CTGTCTGTCTCTCCTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTGTC TCTGTCTTTGTCTCTGTCTCTCCTCTCTCTGTGTCTCTGTCTCTGTCTCT CTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGT CTCTCCTCTGTCTCTCTGTGTCTGTCTCTCTGTCTCTGTCTTTCTGTCTC TCTCTCACTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTGTGTCTC TCTGTCTCTGTCTCTCACTGTCTCTCTCTCTCTGTCTCTCTGTCTCTCTG TCTCTCTGTGTCTCTCTGTCTCTGTCTCTCTGTCTCTGTCTCTCCTCTGT CTCTCTGTGTCTCTCTCTGTCTTTCTGTCTCTCTGTCTCTGTCTCTCTCC CTGTCTCTGTCTCTCCTCTGTCTCTCTGTGTCTCTGTCTGTCTCTCTGTC TTTCTGTCTCTCTCTCTGTCTCTCTCTGTCTCTG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		767		chr21	TogoVar
CRLF2_chrX_1185490_1217649	1198345	C C	CAGGACAC others(513): Show CAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCC ACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACAC CCTCCCTCCCACCTAGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAA GGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCAC CTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCC TCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCTAGG AAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCC TCCCACCTCGAAGGCAGGACAGCCTCCCTCCCACCTCCCGGGAAGATAGG ACACCCTCCCTCCCACCTCCCGGGAAGACAGGACACCCTCCCTCCCACCT CCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACAGCCTC CCTCCCACCTCCCGGGAAGAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	167	0.0060	520	c.646 others(535): Show c.646+216_646+217insATCTTCCCGGGAGGTGGGAGGGAGGCTGTC CTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAG GGAGGGTGTCCTGTCTTCCCGGGAGGTGGGAGGGAGGGTGTCCTATCTTC CCGGGAGGTGGGAGGGAGGCTGTCCTGCCTTCGAGGTGGGAGGGAGGGTG TCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTAGGAGG TGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCT GCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGG AGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGA GGTGGGAGGGAGGGTGTCCTGCCTTCTAGGTGGGAGGGAGGGTGTCCTGC CTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAG GGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCT	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CTDP1_chr18_79674803_79759503	79687230	A A	ATGCACCG others(513): Show ATGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTAGGCCTGCACCAGA GCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCACAGCAGTTGGCT TCGCCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTC ACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGC CTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGA GCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCT TCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTC ACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGC CTGCACCGCAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGA GCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCT TCGCCAGTTCACTGGTGGGCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0101 a0001c0001t0008g0101	1	378	0.0027	520	c.314 others(537): Show c.314+7004_314+7005insAGGCCTGCACCAGAGCAGTTGGCTTCTC CAGTTCACTGGTGGGCCTGCACCACAGCAGTTGGCTTCGCCAGTTCACTG GTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGC ACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAG TTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTC CAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTG GTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGC ACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAG TTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTC CAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCAGTTCACTG GTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGT	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79687253	T T	TCAGTTCA others(513): Show TCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCAGT GGTGGGCATGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTG CACCAGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCA GTTGGCTTCGCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCG TCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACT GGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCAGTTCACTGGTGGGCCTG CACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGCA GTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCT CCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACT GGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTG CACCGCAGCAGTTGACTTCGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG01070.hp1 others(21): Show HG00423.hp2 HG00609.hp1 HG01070.hp1 HG01071.hp1 HG01255.hp1 HG01257.hp1 HG01934.hp1 HG01943.hp2 HG02083.hp2 HG02109.hp2 HG02300.hp2 HG02647.hp1 HG02896.hp2 HG02965.hp1 HG03130.hp2 HG03688.hp1 HG03834.hp1 HG04199.hp2 NA18951.hp1 NA18952.hp2 NA18987.hp1 NA19009.hp1 NA19070.hp1 NA19089.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0007 a0001c0020 a0003c0023 others(2): Show a0001c0007 a0001c0020 a0003c0023 a0005c0011 a0005c0015	a0001c0007t0003 a0001c0007t0012 a0001c0020t0001 others(3): Show a0001c0007t0003 a0001c0007t0012 a0001c0020t0001 a0003c0023t0003 a0005c0011t0005 a0005c0015t0005	a0001c0007t0003g0004 a0001c0007t0003g0346 a0001c0007t0003g0347 others(20): Show a0001c0007t0003g0004 a0001c0007t0003g0346 a0001c0007t0003g0347 a0001c0007t0003g0348 a0001c0007t0003g0350 a0001c0007t0003g0351 a0001c0007t0003g0352 a0001c0007t0003g0354 a0001c0007t0003g0355 a0001c0007t0003g0356 a0001c0007t0003g0357 a0001c0007t0003g0358 a0001c0007t0003g0359 a0001c0007t0003g0360 a0001c0007t0003g0362 a0001c0007t0003g0365 a0001c0007t0012g0353 a0001c0020t0001g0349 a0003c0023t0003g0361 a0005c0011t0005g0367 a0005c0011t0005g0368 a0005c0011t0005g0370 a0005c0015t0005g0369	24	378	0.0635	520	c.314 others(537): Show c.314+7015_314+7016insGCAGCAGTTGGCTTCTCCAGTTCAGTGG TGGGCATGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCA CCAGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGT TGGCTTCGCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTC AGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGG TGGGCCTGCACCGCAGCAGTTGGCTTCGCCAGTTCACTGGTGGGCCTGCA CCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGCAGT TGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCC AGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGG TGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCA CCGCAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79687332	G G	GCCAGTTC others(513): Show GCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCAC TGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCGCCAGTTCACTGGTGGGCCTGCACCGCAGC AGTTGGCTTCGTCAGTTCACTGGTGAGCCTGCACCGGAGCAGTTGGCTTC TCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGC AGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTC GCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCAC TGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00733.hp1 others(5): Show HG00280.hp2 HG00323.hp1 HG00733.hp1 HG01074.hp2 HG01123.hp2 HG01516.hp2 HG02683.hp2 NA20905.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0011 a0004c0004t0003 a0004c0004t0011	a0004c0004t0003g0331 a0004c0004t0003g0332 a0004c0004t0003g0334 others(5): Show a0004c0004t0003g0331 a0004c0004t0003g0332 a0004c0004t0003g0334 a0004c0004t0003g0335 a0004c0004t0003g0336 a0004c0004t0003g0337 a0004c0004t0003g0338 a0004c0004t0011g0333	8	378	0.0212	520	c.314 others(537): Show c.314+7245_314+7246insAGCCTGCACCGGAGCAGTTGGCTTCTCC AGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGG TGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCA CCGCAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGCAGT TGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGCC AGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGG TGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCA CCGCAGCAGTTGGCTTCACCAGTTCACTGGTGGGCCTGCACCGCAGCAGT TGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCC AGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCAGTTCACTGG TGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79687332	G G	GCCAGTTC others(513): Show GCCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGC AGTTGGCTTCTCCAGTTCACCGGTGGGCCTGCACCGCAGCAGTTGGCTTC TCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGC AGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTC GCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCAC TGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0198 a0001c0008t0001g0198	1	378	0.0027	520	c.314 others(537): Show c.314+7096_314+7097insGAGCAGTTGGCTTCTCCAGTTCACTGGT GGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGCAGTT GGCTTCTCCAGTTCACCGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCA GTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGT GGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGCAGTT GGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCA GTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGT GGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGGCTTCACCAGTTCACTGGTGGGCCTGCACCG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79687332	G G	GCCAGTTC others(513): Show GCCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGC AGTTGGCTTCTCCAGTTCACTGGTGGACCTGCACCGCAGCAGTTGGCTTC TCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGC AGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTC GCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCAC TGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0207 a0001c0001t0017g0207	1	378	0.0027	520	c.314 others(537): Show c.314+7096_314+7097insGAGCAGTTGGCTTCTCCAGTTCACTGGT GGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGCAGTT GGCTTCTCCAGTTCACTGGTGGACCTGCACCGCAGCAGTTGGCTTCTCCA GTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGT GGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGCAGTT GGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCA GTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGT GGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGGCTTCACCAGTTCACTGGTGGGCCTGCACCG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79687332	G G	GCCAGTTC others(513): Show GCCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGC AGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTC TCCAGTTCACTGGTGGGCCTGCACCACAGCAGTTGGCTTCTCCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGC AGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTC GCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCAC TGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0030 a0001c0003t0001g0030	1	378	0.0027	520	c.314 others(537): Show c.314+7096_314+7097insGAGCAGTTGGCTTCTCCAGTTCACTGGT GGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGCAGTT GGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCA GTTCACTGGTGGGCCTGCACCACAGCAGTTGGCTTCTCCAGTTCACTGGT GGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGCAGTT GGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCA GTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGT GGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGGCTTCACCAGTTCACTGGTGGGCCTGCACCG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar

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Search Results (Total: 10000 hits)