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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⚠️ 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
SHC2_chr19_411589_466033	431804	G G	GTGAGTGA others(561): Show GTGAGTGAGAGATAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGA GATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATC GTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGC GCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGA TGGCACTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGG CAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGG AGGCCAGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GATAGAGGAGGCCAGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATTGTGAGT GAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGT GAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCAGGCAGATAGATGGCGC TTCATCGTGAGTGAGATCA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	212	0.0047	568	c.111 others(587): Show c.1111-1058_1111-1057insTGATCTCACTCACGATGAAGCGCCAT CTATCTGCCTGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGA AGCGCCATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACA ATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCACTCACGATCT CACTCACGATGAAGCGCCATCTATCTGCCTGGCCTCCTCTATCTCTCACT CACGATCTCACTCACGATGAAGCGCCATCTATCTGCCTGGCCTCCTCTAA CTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCC TCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGTGCCATCTGCCC GGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCT ATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAG CGCCATCTATCTGCCCGGCCTCCTCTATCTCTCACTCACGATCTCACTCA CGATGAAGCGCCATCTGCCCGGCCTCCTCTATCTCTCACTCA	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	433446	C C	CAGATGGC others(561): Show CAGATGGCACTTCATCGTGAGTGAGATCATGAGTGAGAGATAGAGGAGGC CGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTA GAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGT GAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGT GAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGC TTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATG GCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCA GATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGTGATAGAGGAG GCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGA TAGAGGAGGCCGGGCAGAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0087	1	212	0.0047	568	c.111 others(587): Show c.1110+1262_1110+1263insATCTGCCCGGCCTCCTCTATCTCTCA CTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCT ATCACTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGG CCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTGC CCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCAT CTATCTGCCCGGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGA AGCGCCATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACG ATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCACTCACGATCT CACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCACT CACGATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTAACTCT CACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCT CTATCTCTCACTCATGATCTCACTCACGATGAAGTGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SLC12A7_chr5_1045384_1117063	1098446	C C	CTCTGCTC others(561): Show CTCTGCTCACCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCCCCCTCT AACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGGCCCC CTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGG CCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACAC CCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGC ATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCT CTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAA CCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCT CTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCC CCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACACCCA GCCCCCTTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCTCA CCCAGCCCCCCTCTAACCT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19065.hp1 NA18990.hp2 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0002 a0002c0008t0002 a0002c0002t0002 a0002c0008t0002	a0002c0002t0002g0068 a0002c0008t0002g0067 a0002c0002t0002g0068 a0002c0008t0002g0067	2	118	0.0170	568	c.125 others(585): Show c.125-4199_125-4198insAGGTTAGAGGGGGGCTGGGTGAGCAGAG GGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGTGC AGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGT GTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGCCT GGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGG GGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGA GGGGGCCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGT TAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGA GGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGT GCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGG GCATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGG CTGGGTGTGCAGAGGGTTAGAAGGGGGCTTGGTGAGCAGA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(561): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATATAATATATAATATATTATAATATATAATATA TAATATATTATAATATATAATATATAATATATTATAATATATAATATATA ATATATTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAAAATATTATAT TTTATAATATATAAAATATTATATTTTATAATATATAAAATATATTATAT TTTATAATATATAAAATATATTATATTTTATAATATATAATATATATTAT ATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	340	0.0029	568	c.17 others(587): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATTTTATATATTATAAAATATAAT ATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATAAT ATTTTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAAAATATAATATATTATATATTATAATATATTATATAT TATATATTATAATATATTATATATTATATATTATAATATATTATATATTA TATATTATAATATATTATATATTATATATTATAAAATATAATATATTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATA TTATAAAATATAATATATTATATATTATAAAATATAATATATTATATATT ATAAAATATAATATATTATATATTATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATATTATATATTAT AAAATATAATATATATTATATATTATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNTG2_chr2_945849_1372613	1344632	T T	TCCCCTGT others(561): Show TCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGG ACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACAT GCATAGGAAGAGTGGACTCACACTTTTCCCCCTGTTCTGGGCGCGCCTGG CCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTT GGGAAGCAGGACATGCATAGGAAGAGTGGACTCACACTTTTCCCCCTGTT CTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACT GGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCACA CTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCA GCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAA GAGTGGACTCGCACTTTTC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0114 a0002c0005t0001g0114	1	190	0.0053	568	c.148 others(589): Show c.1489-22670_1489-22669insGGCAGCTTCCTCTCACTGGGACTT TTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCC CCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCT CTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGA CTCACACTTTTCCCCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAGGAC AGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGC ATAGGAAGAGTGGACTCACACTTTTCCCCCTGTTCTGGGCACGCCTGGCC CAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGG GAAGCAGGACATGCATAGGAAGAGTGGACTCACACTTTTCCCCTGTTCTG GGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGG ACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTT TTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA6_chr1_48290373_48477204	48384405	A A	AGGGAGAG others(561): Show AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGGAGAG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0159 a0001c0001t0021g0159	1	322	0.0031	568	c.909 others(583): Show c.909+903_909+904insCTCTCCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPEF2_chr5_35612863_35819611	35714092	A A	ATATAGTA others(561): Show ATATAGTATTATATATTTTATATACAGTATATATATTATATATAGTATTA TATATTTTATATATAGTATATTTTATATATAGTATATATATTATATATAG TATATATTTTATATATAGTATATATATTATATATAGTATATATTTTATAT ATAGTATATATATTATATATATATTTTATATATAGTATATATATTATATA GTATATATTTTATATATAGTATATATATTATATATACTATATATTTTATA TATAGTATATATATTATATATAGTATATATTTTATATATAGTATATATAT TATATATAGTATATATTTTATATATAGTATATATTTTATATATAGTATAT ATTTTATATATAGTATATATATTATATATAGTATATATTTTATATATAGT ATATATATTATGTATAGTATATATATTATATATAGTATATATTTTATGTA TAGTATATATATTATGTATAGTATATATTTTATATATAGTATATATATTA TGTATAGTATTATATATTTTATATATAGTATATATATTATGTATAGTATT ATATATTTTATATATATGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG03195.hp2 HG01243.hp1 HG02258.hp2 HG03195.hp2	a0003 a0023 a0003 a0023	a0003c0004 a0023c0049 a0003c0004 a0023c0049	a0003c0004t0001 a0023c0049t0001 a0003c0004t0001 a0023c0049t0001	a0003c0004t0001g0134 a0003c0004t0001g0136 a0023c0049t0001g0137 a0003c0004t0001g0134 a0003c0004t0001g0136 a0023c0049t0001g0137	3	268	0.0112	568	c.291 others(587): Show c.2914+1206_2914+1207insTATAGTATTATATATTTTATATACAG TATATATATTATATATAGTATTATATATTTTATATATAGTATATTTTATA TATAGTATATATATTATATATAGTATATATTTTATATATAGTATATATAT TATATATAGTATATATTTTATATATAGTATATATATTATATATATATTTT ATATATAGTATATATATTATATAGTATATATTTTATATATAGTATATATA TTATATATACTATATATTTTATATATAGTATATATATTATATATAGTATA TATTTTATATATAGTATATATATTATATATAGTATATATTTTATATATAG TATATATTTTATATATAGTATATATTTTATATATAGTATATATATTATAT ATAGTATATATTTTATATATAGTATATATATTATGTATAGTATATATATT ATATATAGTATATATTTTATGTATAGTATATATATTATGTATAGTATATA TTTTATATATAGTATATATATTATGTATAGTATTATATATTTTATATATA GTATATATATTATGTATAGTATTATATATTTTATATATATGT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36			chr5	TogoVar
SPNS3_chr17_4428940_4493204	4462394	C C	CACCCACC others(561): Show CACCCACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCA CCCATCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATC CATCCATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCA TTCATCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGC CATCCATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCA TCCATCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATC CATCCATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCA CCAATCTATCCATCCATCCATCCATCCATCCATCCATCCACCAATCTATC CATCCATCCATCCACCCATCCGCCAATCCATCCATCCATCCATCCATCCA CCAATCCATCCACCCACCCATCCACCAATCCATCCATCCACCCACCCACC CACCCACCCACCAATGCATCCATCCACCCACCCACCCACCCACCCACCCA TCCATCCACCAGTCTATCA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0003 a0003	a0003c0051 a0003c0051	a0003c0051t0001 a0003c0051t0001	a0003c0051t0001g0013 a0003c0051t0001g0013	1	362	0.0028	568	c.111 others(587): Show c.1113+9190_1113+9191insCCCACCAATCTATCCATCCATTCATC CACCAATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAA TCCATCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTC CATCCACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCA CCCACCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACC CATCCACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCA TCCATCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACC CACCTACCCACCCATCCATCCACCAATCTATCCATCCATCCATCCATCCA TCCATCCATCCACCAATCTATCCATCCATCCATCCACCCATCCGCCAATC CATCCATCCATCCATCCATCCACCAATCCATCCACCCACCCATCCACCAA TCCATCCATCCACCCACCCACCCACCCACCCACCAATGCATCCATCCACC CACCCACCCACCCACCCACCCATCCATCCACCAGTCTATCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462398	C C	CACCAATC others(561): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCACCCACCCACCCACCTACCCACCCATCCATCCA CCAATCTATCCATCCATCCATCCATCCATCCATCCATCCACCAATCTATC CATCCATCCATCCACCCATCCGCCAATCCATCCATCCATCCATCCATCCA CCAATCCATCCACCCACCCATCCACCAATCCATCCATCCACCCACCCACC CACCCACCCACCAATGCATCCATCCACCCACCCACCCACCCACCCACCCA TCCATCCACCAGTCTATCA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0003 a0001c0038t0003	a0001c0038t0003g0293 a0001c0038t0003g0293	1	362	0.0028	568	c.111 others(587): Show c.1113+9194_1113+9195insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACC CACCTACCCACCCATCCATCCACCAATCTATCCATCCATCCATCCATCCA TCCATCCATCCACCAATCTATCCATCCATCCATCCACCCATCCGCCAATC CATCCATCCATCCATCCATCCACCAATCCATCCACCCACCCATCCACCAA TCCATCCATCCACCCACCCACCCACCCACCCACCAATGCATCCATCCACC CACCCACCCACCCACCCACCCATCCATCCACCAGTCTATCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(561): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGA GAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCAGGAGGGG AGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGG AGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAG GGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGA GAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGG GGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAG AGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAG GGAGAGAGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG02055.hp2 HG02145.hp1 others(10): Show HG00140.hp2 HG02055.hp2 HG02145.hp1 HG02451.hp2 HG02602.hp1 HG02717.hp2 HG02735.hp1 HG02965.hp2 HG03195.hp2 HG03453.hp2 HG03491.hp2 NA19043.hp2 NA20129.hp1	a0001 a0004 a0008 others(2): Show a0001 a0004 a0008 a0026 a0046	a0001c0002 a0001c0003 a0001c0004 others(8): Show a0001c0002 a0001c0003 a0001c0004 a0001c0012 a0001c0018 a0001c0038 a0001c0081 a0004c0080 a0008c0023 a0026c0130 a0046c0139	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(8): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0012t0001 a0001c0018t0001 a0001c0038t0001 a0001c0081t0001 a0004c0080t0004 a0008c0023t0001 a0026c0130t0001 a0046c0139t0001	a0001c0002t0001g0094 a0001c0003t0001g0068 a0001c0003t0001g0107 others(10): Show a0001c0002t0001g0094 a0001c0003t0001g0068 a0001c0003t0001g0107 a0001c0004t0001g0244 a0001c0012t0001g0240 a0001c0018t0001g0007 a0001c0038t0001g0022 a0001c0081t0001g0044 a0004c0080t0004g0014 a0008c0023t0001g0056 a0008c0023t0001g0057 a0026c0130t0001g0029 a0046c0139t0001g0217	13	256	0.0508	568	c.22 others(579): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG AGAGGGAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAG GGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGG AGGGGGCAGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGG GAGAGGGAGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGG GAGGGAGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGA GGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGG AGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGG GAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAGAGG GAGTGAGAGAGAGAGGGAGAGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(561): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGGTGGGAGCGGGGTGGGGGAAC GGGGAGAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGG GGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGGT GGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0311 a0001c0002t0003g0311	1	364	0.0028	568	c.157 others(587): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCCG TTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTT CCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCC CCCACCCCGCTCTCACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCC CACCCCGCTCCCACCCCCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCC ACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCGTTCTCCCAC CCCGCTCTCACCCCCACCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTC CCACCTCGCTCCCACCCCGTTCTCCCACCCCCTCCCACCCCCACCCCGTT CTCCCACCCCTCCCACCCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCT CCCACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCC CACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCC ACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
THBS2_chr6_169210785_169258846	169243072	T T	TTCCCACC others(561): Show TTCCCACCTTCCATCTTCCCATCTTCCCACCTTCCCACCACTCCCACCTT CCCACCTTCCCACCACTCCACCTTCCCACCTTCCCACCTTCCACTGCTCC ACCTTCCCACCTTCCCACCTTCCACCGCTCCCACCTTCCCACCTTCCCAC CACTCCCACCTTCCACCTTCCCACCTTCCCACCACTCCCACCTTCCCACC TTCCCACCTCCCACCGCTCCCACCTTCCCACCTTCCCACCGCTCCACCTT CCACCTTCCATCTTCCCATCTTCCCACCTTCCCCACCCACTCCCACCTTC CCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCACTGCTC CCACCTTCCCACCTTCCCACCTTCCCACCACTCCCACCTTCCCAGTGCTT CCCATCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTC CCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCGCACCTTCC CACCTTCCCACATTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCA CCTTCCCACCACTCCCACC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0248 a0001c0003t0002g0248	1	396	0.0025	568	c.695 others(585): Show c.695-1115_695-1114insGGTGGGAGTGGTGGGAAGGTGGAAGGTG GGAGCGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGC GAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGG AAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAAGCACTGG GAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGCAGTGG GAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGG AGTGGGTGGGGAAGGTGGGAAGATGGGAAGATGGAAGGTGGAAGGTGGAG CGGTGGGAAGGTGGGAAGGTGGGAGCGGTGGGAGGTGGGAAGGTGGGAAG GTGGGAGTGGTGGGAAGGTGGGAAGGTGGAAGGTGGGAGTGGTGGGAAGG TGGGAAGGTGGGAGCGGTGGAAGGTGGGAAGGTGGGAAGGTGGAGCAGTG GAAGGTGGGAAGGTGGGAAGGTGGAGTGGTGGGAAGGTGGGAAGGTGGGA GTGGTGGGAAGGTGGGAAGATGGGAAGATGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
TOP1MT_chr8_143304324_143339880	143321874	C C	CAGGCACG others(561): Show CAGGCACGCCACACGCACGCCACACACGCATGCCACACACACGCACGCCA CACACGCATGCCACACACAGCCACGCCACACACACACGCCACACACACAC AGGCACGCCACACACGCACGCCACACACACGCATGCCACACACACGCCAC ACACACAGGCACGCCACACACAGGCACGCCACACACGCACGCCACACACG CACGCCACACACGCACGCCACACACGCACGCCACACACAGGCACGCCACA CACGCACGCCACACACACGCACGCCACACACACACGCACGCCACACACAC GCACGCCACAAACGCACGCCACAAACGCACGCCACACACGCACGCCACAC ACGCACGCCAGCCACACACGCACGCCACACACGAACGCCACACAAACGCC ACACACACGAATGCCACACGCACACCACACACGCACGCCACACACGCACG CCACACACGCACGCCACACACAGGCATGCCACACACATGCACGCCACACA CAGGCACGCCACACACGCACGCCACACACAGGCATGCCAAACACGCACGC CACACATGCATGCCACACA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	430	0.0023	568	c.961 others(583): Show c.961-489_961-488insTGTGTGGCATGCATGTGTGGCGTGCGTGTT TGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTG CATGTGTGTGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGT GGCGTGCGTGTGTGGTGTGCGTGTGGCATTCGTGTGTGTGGCGTTTGTGT GGCGTTCGTGTGTGGCGTGCGTGTGTGGCTGGCGTGCGTGTGTGGCGTGC GTGTGTGGCGTGCGTTTGTGGCGTGCGTTTGTGGCGTGCGTGTGTGTGGC GTGCGTGTGTGTGTGGCGTGCGTGTGTGTGGCGTGCGTGTGTGGCGTGCC TGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCG TGCGTGTGTGGCGTGCCTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGT GTGGCATGCGTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGTGTG GCGTGTGTGTGTGGCGTGGCTGTGTGTGGCATGCGTGTGTGGCGTGCGTG TGTGTGGCATGCGTGTGTGGCGTGCGTGTGGCGTGCCT	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(561): Show ATATTATATATACATTATATATATATATATTATATATACATTATATATAT ATATATTATATATACATTATATATATATATATTATATATACATTATATAT ATATATATTATATATACATTATATATATATATATTATATATACATTATAT ATATATATATACATTATATATATATATTATATATACATTATATATATATA TTATATATACATTATATATATATATTATATATACATTATATATATATATT ATATATACATTATATATATATATTATATATACATTATATATATATTATAT ATACATTATATATATATTATATATACATTATATATATATTATATATACAT TATATATATATATTATATATACATTATATATATATATTATATATACATTA TATATATCATATATTATATATACATTATATATATCATATATTATATATAC ATTATATATATCATATATTATATATACATTATATATATCATATATTATAT ATACATTATATATATCATATATTATATATACATTATATATATTATATATT ATATATACATTATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	224	0.0045	568	c.102 others(587): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATGATATATATAATGTATATATAAT ATATGATATATATAATGTATATATAATATATGATATATATAATGTATATA TAATATATGATATATATAATGTATATATAATATATGATATATATAATGTA TATATAATATATATATATAATGTATATATAATATATATATATAATGTATA TATAATATATATATAATGTATATATAATATATATATAATGTATATATAAT ATATATATAATGTATATATAATATATATATATAATGTATATATAATATAT ATATATAATGTATATATAATATATATATATAATGTATATATAATATATAT ATATAATGTATATATAATATATATATATAATGTATATATATATATATAAT GTATATATAATATATATATATATAATGTATATATAATATATATATATATA ATGTATATATAATATATATATATATAATGTATATATAATATATATATATA TAATGTATATATAATATATATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930605	C C	CGGGGTAG others(561): Show CGGGGTAGGGAGGCTGGGGGTTAGGAAGGCTGGGGTTAGGGAGGCCAGGG GGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGT AGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGG GAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC AGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTCAGGGAGGCCGGG GTTAGGGAGGCCAGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTT AGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGA GGCCAGGGTTAGGGAGGCCGGGGTCAGGGAGGCCGGGGTTAGGGAGGCCA GGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGT TAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAG GGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0058 a0002c0002t0006g0058	1	466	0.0022	568	c.49 others(579): Show c.4985_*4986insTGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGG CCTCCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCTGGCCTC CCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTA ACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCTGGCCTCCCTAACCC CGGCCTCCCTGACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCTGGC CTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCC TGACCCTTGGTCTCCCTAACCCTGGCCTCCCTAACCCCGGCCTCCCTGAC CCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCC GGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCT CCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTA ACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTAA CCCCAGCCTTCCTAACCCCCAGCCTCCCTACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4764		chr11	TogoVar
TRIML1_chr4_188134441_188152743	188152453	A A	AGGGTGAG others(561): Show AGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAAGGGGAGTGAGAGTGGGG GTGAGAAGGGGAGTGAGAGTGGGGGAGAGAAGGGGAGTGAGAGAGGGGTT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGATGAGA AAGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGTGAAGGGGA GTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGT GAGAGAGGGGGTGAGAAGGGAGTGAGAGTGGGGCTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAAGGGAGTGAGTGTG GGGGTGAGAAGGGGAGGGAGAGAGAGGGTGAGAAGGGGAGTGAGTGGGGG TGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGGAGTGAGAGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0148 a0002c0002t0002g0148	1	228	0.0044	568	c.50 others(579): Show c.5081_*5082insGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGAGAGAAGGGG AGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAG TGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTG AGAGAGGGGATGAGAAAGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAG AGAGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGT GGGGTGTGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGG GGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAGTGAGAGTGGGGCT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGAG AAGGGAGTGAGTGTGGGGGTGAGAAGGGGAGGGAGAGAGAGGGTGAGAAG GGGAGTGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGA GTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4711		chr4	TogoVar
VCX3A_chrX_6528618_6540118	6532993	A A	ACCACCTC others(561): Show ACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCT CCCTCCCCACACACCTCCTCTTCCCCCCTCCCTCCCCACACACCACCTCT TCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACA CCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCT CCCTCCCCACACACCTCTTCCTTCCTCCCTCCCCACACACCTCCTCTTCC TCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACC ACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCC TCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCCTC TTCCCCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACAC ACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCC TCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTT CCTCCCTCCCCACACACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0023 a0023	a0023c0023 a0023c0023	a0023c0023t0003 a0023c0023t0003	a0023c0023t0003g0032 a0023c0023t0003g0032	1	74	0.0135	568	c.75 others(577): Show c.751_*752insAGGTGTGTGGGGAGGGAGGAAGGAAGAGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGA GGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTG GGGAGGGAGGAAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		624		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467180	T T	TGTGGGGA others(561): Show TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0045 a0002c0002t0029g0045	1	271	0.0037	568	c.79 others(577): Show c.797_*798insGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		671		chrX	TogoVar
VGLL4_chr3_11551069_11648915	11599587	C C	CGGCTCAC others(561): Show CGGCTCACTCCAAGTTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCA GGCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCTTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTC GGATTACAGGCGTGAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTAAGA CAGAGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCT AACACGGTGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTG TGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAGACAGAGTCTCAGCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03130.hp1 HG02109.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0011 a0001c0001t0016 a0001c0002t0011	a0001c0001t0016g0353 a0001c0002t0011g0211 a0001c0001t0016g0353 a0001c0002t0011g0211	2	388	0.0052	568	c.272 others(585): Show c.272+2245_272+2246insAGCTGAGACTCTGTCTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCT AATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACTCTGTCTTAAAAA AAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCGAGCACTTT GGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTG GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGAAGCCTGAGGCAGG AGAATGGCGTGAACCTGGGAGGCGGAACTTGGAGTGAGCC	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(561): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	408	0.0025	568	c.53+ others(583): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTC others(561): Show CCTTCCTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCT CCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT GCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTCCTTCCTCCCTCCCTC CTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCCTCCTTCCTTCCTC CCTCCCTCCTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0290 a0001c0002t0002g0290	1	326	0.0031	568	c.483 others(583): Show c.483+381_483+382insTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTC CCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTCC TTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCC CTCCTTCCTTCCTCCCTCCCTCCTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(561): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCC TTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0283 a0001c0002t0002g0283	1	326	0.0031	568	c.483 others(583): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCT CCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZC3H12B_chrX_65029826_65512887	65450462	T T	TATATGTG others(561): Show TATATGTGTATATATGTATATATGTATATATGTACATATGTATATATATG TATATATGTACATATGTATATATATGTATATATGTACATATGTATATATA TGTATATATGTATATATATACATATGTATATATATGTATATATGTATATA TATACATGTATACATATGTATACATGTATATATATACATATGTATACATG TATATATGTATATATACATGTATACATATGTATATATGTATACATATGTA TATATGTATATATGTATAAATATACATATGTATATATATGTATATATGTA TACATATGTATATATACATATGTATATATATGTATATATGTATACATATG TATATATACATATGTATATATATGTATACATATGCATATATACATATGTA TATATATGTATATATGTATACATATGTATATATACATATGTATATATATG TATATATGCATATATACATATGTATATATGCATATATATACATATGTATA TATGCATATATATACATATGTGTATATATGTATATATGTATACATATGTG TATATATGTATATGTATAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0029 a0001c0001t0011g0029	1	165	0.0061	568	c.-15 others(589): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTACATATGTAT ATATATGTATATATGTATATATATACATATGTATATATATGTATATATGT ATATATATACATGTATACATATGTATACATGTATATATATACATATGTAT ACATGTATATATGTATATATACATGTATACATATGTATATATGTATACAT ATGTATATATGTATATATGTATAAATATACATATGTATATATATGTATAT ATGTATACATATGTATATATACATATGTATATATATGTATATATGTATAC ATATGTATATATACATATGTATATATATGTATACATATGCATATATACAT ATGTATATATATGTATATATGTATACATATGTATATATACATATGTATAT ATATGTATATATGCATATATACATATGTATATATGCATATATATACATAT GTATATATGCATATATATACATATGTGTATATATGTATATATGTATACAT ATGTGTATATATGTATATGTATACATATGTGTATATATGTATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(562): Show GAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGGAAGAAAGAAAGAAGAAGAAAGAGAAAAGAAAGAAAGAAAGAAAG AAAGAAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAG AGAAAGAAGAGGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAG AAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGA GAAAGAAAGAAAAGAAAGAAAGAAAGAAGAGAGAGAGAGAGAAAGAAAGA AAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAGAGAG AGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAG AAAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0188 a0003c0003t0001g0188	1	376	0.0027	569	c.-11 others(580): Show c.-1192_-1191insAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAGAAGAAAGAGAAAAGA AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAGAGAGAGAGAAAGAAGAGGAAAGAAAGAAAGAAAGAGAAAGA AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAAGAA AGAAAGAAAGAAAGAGAAAGAAAGAAAAGAAAGAAAGAAAGAAGAGAGAG AGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA AGAAAGAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ADAMTS17_chr15_99966437_100346975	100276161	A A	AGGGAGGG others(562): Show AGGGAGGGAGTGGGTGCCTGGTGGGAGGGTAGGAGGGAGGGAGTGGGTGC CTGGCGGGAGGGTGGGAGGGAGTGGGTGCCTGGCGGGAGGGTGGGAGGGT GTGGGTGCCTGGTGGGAGGGTGGGAGGGGAGTGCGTGCCTGGTGGGAGGG TGGGAGGGTGTGGGTACCTGGTGGGAGGGTGGGAGGGAGTGGGTGCCTGG TGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGGTGTGG GTGCCTGGTGGGAGGGAGTGGGTGCCTGGTGGGAGAGTGGGAGGGAGTGG GTGCCTGGTGGGAGGGTGGGAGGGAGTGGGTGACTGGTGGGAGGGTGGGA GGGTGTGGGTGCCTGGTGGGAGGGAGTGGGTGCCTGGCGGGAGGGTGGGA GGGAGTGGGTGCCTGGCGGGAAGGTGGGAGGGAGTGGGTGCCTGGCGGGA AGGTGGGAGGGTGTGGGTGCCTGGCGGGAAGGTGGGAGGGAGTGGGTGCC TGGCGGGAAGGTGGGAGGGTGTGGGTACCTGGCGGGAGGGTGGGAGGGAG TGGGTGCCTGGTGGGAGGGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0063 a0001c0002t0002g0063	1	228	0.0044	569	c.789 others(586): Show c.789+5067_789+5068insACCCTCCCACCAGGCACCCACTCCCTCC CACCCTCCCGCCAGGTACCCACACCCTCCCACCTTCCCGCCAGGCACCCA CTCCCTCCCACCTTCCCGCCAGGCACCCACACCCTCCCACCTTCCCGCCA GGCACCCACTCCCTCCCACCTTCCCGCCAGGCACCCACTCCCTCCCACCC TCCCGCCAGGCACCCACTCCCTCCCACCAGGCACCCACACCCTCCCACCC TCCCACCAGTCACCCACTCCCTCCCACCCTCCCACCAGGCACCCACTCCC TCCCACTCTCCCACCAGGCACCCACTCCCTCCCACCAGGCACCCACACCC TCCCACCCTCCCACCAGGCACCCACTCCCTCCCACCCTCCCACCAGGCAC CCACTCCCTCCCACCCTCCCACCAGGTACCCACACCCTCCCACCCTCCCA CCAGGCACGCACTCCCCTCCCACCCTCCCACCAGGCACCCACACCCTCCC ACCCTCCCGCCAGGCACCCACTCCCTCCCACCCTCCCGCCAGGCACCCAC TCCCTCCCTCCTACCCTCCCACCAGGCACCCACTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ANKLE2_chr12_132720503_132766832	132758903	G G	GGAGTGGC others(562): Show GGAGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTG GCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCC CGGGGCACCCACGTGGTAGAGAGGATCGCTGCGGAGTGGCACCCTGGGGC ACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCTGGGGCACCCAT GTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCA GAGTGGATCGCACAGCGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGA TCGCGTGGACTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGC GGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTG GCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCATCC CGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCAGGGC ACCCACATGGCAGAGTGGATTGCGCAGTGTGGCACCCCGGGGCACCCACG TGGCAGAGAGGATCGCTGCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03540.hp2 HG02145.hp1 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0130 a0002c0002t0001g0041 a0002c0002t0001g0130	2	350	0.0057	569	c.181 others(586): Show c.181+2714_181+2715insTGCAGCGATCCTCTCTGCCACGTGGGTG CCCCGGGGTGCCACACTGCGCAATCCACTCTGCCATGTGGGTGCCCTGGG GTGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGATGCCA CTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCCGC AGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGAT CCTCTCTGCCACGTGGGTGCCCCGGGGTGCCAGTCCACGCGATCCTCTCT GCCACGTGGGTGCCCCGGGGTGCCACGCTGTGCGATCCACTCTGCCACGT GGGTGCCCCGGGGTGCCACTCCGCAGCGATCCACTCTGCCACATGGGTGC CCCAGGGTGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCAGG GTGCCACTCCGCAGCGATCCTCTCTACCACGTGGGTGCCCCGGGGTGCCA CTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCCGC AGCGATCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCACTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759249	T T	TGCGGAGT others(562): Show TGCGGAGTGGCATCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGA GTGGCATCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCA TCCTGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCAG GGCACCCACATGGCAGAGTGGATTGCGCAGTGTGGCACCCCGGGGCACCC ACGTGGCAGAGAGGATCGCTGCAGAGTGGCACCCCAGGGCACCCACGTGG CAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGT GGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCG CTGCGGAGTGGCATCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGG AGTGGCATCCTGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGC ACCCCAGGGCACCCACATGGCAGAGTGGATTGCGCAGTGTGGCACCCCGG GGCACCCACGTGGCAGAGAGGATCGCTGCAGAGTGGCACCCCGGGGCACC CACGTGGCAGAGTGGATCAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG01169.hp1 others(4): Show HG00408.hp2 HG00544.hp1 HG01169.hp1 HG04204.hp2 NA18947.hp2 NA19000.hp2 NA19004.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0004c0004t0019 a0001c0001t0001 a0004c0004t0001 a0004c0004t0019	a0001c0001t0001g0173 a0004c0004t0001g0148 a0004c0004t0001g0154 others(4): Show a0001c0001t0001g0173 a0004c0004t0001g0148 a0004c0004t0001g0154 a0004c0004t0001g0165 a0004c0004t0001g0171 a0004c0004t0001g0172 a0004c0004t0019g0153	7	350	0.0200	569	c.181 others(586): Show c.181+2368_181+2369insGTGATCCACTCTGCCACGTGGGTGCCCC GGGGTGCCACTCTGCAGCGATCCTCTCTGCCACGTGGGTGCCCCGGGGTG CCACACTGCGCAATCCACTCTGCCATGTGGGTGCCCTGGGGTGCCACTCC GCAGCGATCCACTCTGCCACGTGGGTGCCCCAGGATGCCACTCCGCAGCG ATCCACTCTGCCACGTGGGTGCCCCGGGATGCCACTCCGCAGCGATCCAC TCTGCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCACTCTGCC ACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCTCTCTGCCACGTGG GTGCCCTGGGGTGCCACTCTGCAGCGATCCTCTCTGCCACGTGGGTGCCC CGGGGTGCCACACTGCGCAATCCACTCTGCCATGTGGGTGCCCTGGGGTG CCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCAGGATGCCACTC CGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGATGCCACTCCGCAGC GATCCACTCTGCCACGTGGGTGCCCCGGGATGCCACTCCGC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759249	T T	TGCGGAGT others(562): Show TGCGGAGTGGCATCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGA GTGGCATCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCA TCCTGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCAG GGCACCCACATGGCAGAGTGGATTGCGCAGTGTGGCACCCCGGGGCACCC ACGTGGCAGAGAGGATCGCTGCAGAGTGGCACCCCAGGGCACCCATGTGG CAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGT GGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCG CTGCGGAGTGGCATCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGG AGTGGCATCCTGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGC ACCCCAGGGCACCCACATGGCAGAGTGGATTGCGCAGTGTGGCACCCCGG GGCACCCACGTGGCAGAGAGGATCGCTGCAGAGTGGCACCCCGGGGCACC CACGTGGCAGAGTGGATCAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18956.hp2 HG00280.hp1 NA18956.hp2	a0004 a0011 a0004 a0011	a0004c0004 a0011c0022 a0004c0004 a0011c0022	a0004c0004t0001 a0011c0022t0001 a0004c0004t0001 a0011c0022t0001	a0004c0004t0001g0169 a0011c0022t0001g0164 a0004c0004t0001g0169 a0011c0022t0001g0164	2	350	0.0057	569	c.181 others(586): Show c.181+2368_181+2369insGTGATCCACTCTGCCACGTGGGTGCCCC GGGGTGCCACTCTGCAGCGATCCTCTCTGCCACGTGGGTGCCCCGGGGTG CCACACTGCGCAATCCACTCTGCCATGTGGGTGCCCTGGGGTGCCACTCC GCAGCGATCCACTCTGCCACGTGGGTGCCCCAGGATGCCACTCCGCAGCG ATCCACTCTGCCACGTGGGTGCCCCGGGATGCCACTCCGCAGCGATCCAC TCTGCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCACTCTGCC ACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCTCTCTGCCACATGG GTGCCCTGGGGTGCCACTCTGCAGCGATCCTCTCTGCCACGTGGGTGCCC CGGGGTGCCACACTGCGCAATCCACTCTGCCATGTGGGTGCCCTGGGGTG CCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCAGGATGCCACTC CGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGATGCCACTCCGCAGC GATCCACTCTGCCACGTGGGTGCCCCGGGATGCCACTCCGC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ATP11A_chr13_112685038_112892168	112723293	T T	TCCCCCCA others(562): Show TCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCCACCCCCCCACCTCCC CCACCTCCCCCCACCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCAC CCCCACCCACCCTCCCCCCACCCCCACCCACCTCCCCCCCACCCCCCACC TCCCCCACCCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCC CCCCACCCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCAC CCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCCACCCCACCTCCCCCCCACCCCCACCCACCTCCCACCCCCAC CCCCCCCCCCACCTCCCCCACCCCCCACCTCCCCCCCACCCCCCCACCCC CCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCTACC CCCCACCCCCCACCTCCCCCCCACCCCCCACCTCCCCCCACCCCCCCACC TCCCCCCACCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0005 a0003c0012t0005	a0003c0012t0005g0235 a0003c0012t0005g0235	1	254	0.0039	569	c.39+ others(586): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCC ACCCCCCCACCTCCCCCACCTCCCCCCACCCCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCACCCACCCTCCCCCCACCCCCACCCACCTCC CCCCCACCCCCCACCTCCCCCACCCCCCCACCTCCCCCCACCCCCCACCC CCACCCCCTACCCCCCCCCACCCCCCACCTCCCCCCACCCCCCCCACCTC CCCCACCCCCCCACCCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCT CCCCCCACCCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACC CCCACCCACCTCCCCCCACCCCCCACCCCACCTCCCCCCCACCCCCACCC ACCTCCCACCCCCACCCCCCCCCCCACCTCCCCCACCCCCCACCTCCCCC CCACCCCCCCACCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCAC CCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCCACCCCCCACCTCC CCCCACCCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
AZU1_chr19_822837_837018	835508	G G	GTCCAGGC others(562): Show GTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGG CCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCTGTCCAGGCCCCGAC GCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCA GCCCCCACCCCGCAGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG03669.hp1 HG01516.hp2 HG01517.hp1 HG03669.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0007t0001 a0001c0003t0001 a0001c0007t0001	a0001c0003t0001g0031 a0001c0007t0001g0010 a0001c0003t0001g0031 a0001c0007t0001g0010	3	391	0.0077	569	c.36 others(580): Show c.3631_*3632insTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAG CCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCC TGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGG GCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCA	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3491		chr19	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(562): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGG GCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	398	0.0025	569	c.-22 others(580): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTGTG TCCAGTCCACACCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTG CCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
CACNA1H_chr16_1148106_1226768	1185865	G G	GGTCAGCG others(562): Show GGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGG TGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGG CGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTAC GGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTG AGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCA GGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCG GGTGAGTAGACGGTCGGCGT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0013 a0013	a0013c0030 a0013c0030	a0013c0030t0013 a0013c0030t0013	a0013c0030t0013g0251 a0013c0030t0013g0251	1	338	0.0030	569	c.300 others(586): Show c.300-9106_300-9105insTCAGCGTGCGTAGGGGCCGGAGGCGGGG TACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCG GAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGG GCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCG GGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGA GGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMKK2_chr12_121232692_121301709	121255235	T T	TATATATA others(562): Show TATATATATATAATTATATATATAATTTTATATATATATAATTATATATA TAATTTTATATATATATAATTATATATATTTATATATATATAATTATATA TATATATAAAATTATATATATAATTATATATATTATATATAATTATATAT ATAATTTTATATATATAATTATATATATTTATATATATATATATAATTAT ATATATATATAAAATTATATATATAATTATATATATATTATATATAATTA TATATATATATTATATATAATTTTATATATATAATTATATATATAATTTT ATATATATAATTTTATATATATAATTTTATATATATAATTTTATATATAT AATTATATATATAATTTTATATATATATAATTATATATATAATTTTATAT ATATATAATTATATATATAATTTTATATATATATAATTATATATATAATT TTATATATATATAATTATATATATAATTTTATATATATATAATTATATAT ATAATTATATATATAATTTTATATATATAATTATATATATAATTTTATAT ATATATAATTATATATATAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04204.hp2 HG04184.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0095 a0001c0001t0015g0096 a0001c0001t0015g0095 a0001c0001t0015g0096	2	330	0.0061	569	c.907 others(584): Show c.907+314_907+315insTTATATATATAATTATATATATATAAAATT ATATATATAATTATATATATAAAATTATATATATAATTATATATATAATT ATATATATATAAAATTATATATATAATTATATATATATAAAATTATATAT ATAATTATATATATATAAAATTATATATATAATTATATATATATAAAATT ATATATATAATTATATATATATAAAATTATATATATAATTATATATATAA AATTATATATATAAAATTATATATATAAAATTATATATATAAAATTATAT ATATAATTATATATATAAAATTATATATAATATATATATATAATTATATA TAATATATATATAATTATATATATAATTTTATATATATATATAATTATAT ATATATATATAAATATATATAATTATATATATAAAATTATATATATAATT ATATATAATATATATAATTATATATATAATTTTATATATATATATAATTA TATATATATAAATATATATAATTATATATATATAAAATTATATATATAAT TATATATATATAAAATTATATATATAATTATATATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN11_chr6_44153820_44189401	44181925	C C	CATACAGA others(562): Show CATACAGACACAACCACACCACACTCACACACACACATACACACTCACAT ACAGACACAACCACACCACACTCACACACACACATACACACTCACATACA GACACAACCACACCACACACACACATACACACTCACATACAGACACAACC ACACCACACTCACACATACACACTCACATACAGACACAACCACACCACAC TCACACACACACACTCACATACAGACACAACCACACCACACTCACACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACATAC ACACTCACATACAGACACAACCACACCACACTCACACACACATACACACT CACATACAGACACAACCACACCACACTCACACACACATACACACTCACAT ACAGACACAACCACACCACACTCACACACACACATACACACTCACATACA GACACAACCACACCACACTCACACACACACATACACACTCACATACAGAC ACAACCACACCACACACACACACACTCACATACAGACACAACCACACCAC ACTCACACACACATACACAG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0233 a0002c0002t0001g0233	1	460	0.0022	569	c.193 others(586): Show c.1938+605_1938+606insATACAGACACAACCACACCACACTCACA CACACACATACACACTCACATACAGACACAACCACACCACACTCACACAC ACACATACACACTCACATACAGACACAACCACACCACACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACATACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACTCACATACAGACACA ACCACACCACACTCACACACACACACACTCACATACAGACACAACCACAC CACACTCACACACACACATACACACTCACATACAGACACAACCACACCAC ACTCACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACATACACACTCACATACAGACACAACCACACCACACTCACACAC ACACATACACACTCACATACAGACACAACCACACCACACTCACACACACA CATACACACTCACATACAGACACAACCACACCACACACACACACACTCAC ATACAGACACAACCACACCACACTCACACACACATACACAG	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22			chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181925	C C	CTCACATA others(562): Show CTCACATACAGACACAACCACACCACACTCACACACACACACACACTCAC ATACAGACACAACCACACCACACTCACACACACACATACACACTCACATA CAGACACAACCACACCACACACACACATACACACTCACATACAGACACAA CCACACCACACTCACACATACACACTCACATACAGACACAACCACACCAC ACTCACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACATACACA CTCACATACAGACACAACCACACCACACTCACACACACATACACACTCAC ATACAGACACAACCACACCACACTCACACACACATACACACTCACATACA GACACAACCACACCACACTCACACACACACATACACACTCACATACAGAC ACAACCACACCACACACACACACACTCACATACAGACACAACCACACCAC ACTCACACACACATACACAG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0018 a0007c0007t0001g0018	1	460	0.0022	569	c.193 others(586): Show c.1938+645_1938+646insCACACTCACATACAGACACAACCACACC ACACTCACACACACACATACACACTCACATACAGACACAACCACACCACA CACACACATACACACTCACATACAGACACAACCACACCACACTCACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACACACTCA CATACAGACACAACCACACCACACTCACACACACACACACTCACATACAG ACACAACCACACCACACTCACACACACACATACACACTCACATACAGACA CAACCACACCACACTCACACACACATACACACTCACATACAGACACAACC ACACCACACTCACACACACATACACACTCACATACAGACACAACCACACC ACACTCACACACACATACACACTCACATACAGACACAACCACACCACACT CACACACACACATACACACTCACATACAGACACAACCACACCACACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACATACACA GTCACATACAGACACAACCACACCACACTCACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181925	C C	CTCACATA others(562): Show CTCACATACAGACACAACCACACCACACTCACACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACACACACATACACACTCACATACAGACAC AACCACACCACACACACATACACACTCACATACAGACACAACCACACCAC ACTCACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACATACACA CTCACATACAGACACAACCACACCACACTCACACACACATACACACTCAC ATACAGACACAACCACACCACACTCACACACACACATACACACTCACATA CAGACACAACCACACCACACTCACACACACACATACACACTCACATACAG ACACAACCACACCACACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACATACAG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0075 a0014c0016t0001g0075	1	460	0.0022	569	c.193 others(586): Show c.1938+737_1938+738insCACTCACATACAGACACAACCACACCAC ACACACATACACACTCACATACAGACACAACCACACCACACTCACACACA CACACTCACATACAGACACAACCACACCACACTCACACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACATACACACTCACATACAGACACA ACCACACCACACTCACACACACACATACACACTCACATACAGACACAACC ACACCACACTCACACACACACATACACACTCACATACAGACACAACCACA CCACACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACATACAGTCACATACAGACACAACCACACCACACTCACACACACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACACATACA CACTCACATACAGACACAACCACACCACACACACACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181925	C C	CTCACATA others(562): Show CTCACATACAGACACAACCACACCACACTCACACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACACACACATACACACTCACATACAGACAC AACCACACCACACTCACACATACACACTCACATACAGACACAACCACACC ACACTCACACACACACACTCACATACAGACACAACCACACCACACACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACATAC ACACTCACATACAGACACAACCACACCACACTCACACACACATACACACT CACATACAGACACAACCACACCACACTCACACACACATACACACTCACAT ACAGACACAACCACACCACACTCACACACACACATACACACTCACATACA GACACAACCACACCACACTCACACACACACATACACACTCACATACAGAC ACAACCACACCACACACACACACACTCACATACAGACACAACCACACCAC ACTCACACACACATACACAG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	460	0.0022	569	c.193 others(586): Show c.1938+737_1938+738insCACTCACATACAGACACAACCACACCAC ACTCACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACACACACACACACTCAC ATACAGACACAACCACACCACACTCACACACACACATACACACTCACATA CAGACACAACCACACCACACTCACACACACATACACACTCACATACAGAC ACAACCACACCACACTCACACACACATACACACTCACATACAGACACAAC CACACCACACTCACACACACACATACACACTCACATACAGACACAACCAC ACCACACTCACACACACACATACACACTCACATACAGACACAACCACACC ACACACACACACACTCACATACAGACACAACCACACCACACTCACACACA CATACACAGTCACATACAGACACAACCACACCACACTCACACACACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACACATACA CACTCACATACAGACACAACCACACCACACACACACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181925	C C	CTCACATA others(562): Show CTCACATACAGACACAACCACACCACACTCACACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACACACACATACACACTCACATACAGACAC AACCACACCACACTCACACATACACACTCACATACAGACACAACCACACC ACACTCACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACATACACA CTCACATACAGACACAACCACACCACACACACACACATACACACTCACAT ACAGACACAACCACACCACACTCACACACACACATACACACTCACATACA GACACAACCACACCACACTCACACACACACATACACACTCACATACAGAC ACAACCACACCACACACACACACACTCACATACAGACACAACCACACCAC ACTCACACACACATACACAG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	460	0.0022	569	c.193 others(586): Show c.1938+737_1938+738insCACTCACATACAGACACAACCACACCAC ACTCACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACATACACACTCACATACAG ACACAACCACACCACACACACACACATACACACTCACATACAGACACAAC CACACCACACTCACACACACACATACACACTCACATACAGACACAACCAC ACCACACTCACACACACACATACACACTCACATACAGACACAACCACACC ACACACACACACACTCACATACAGACACAACCACACCACACTCACACACA CATACACAGTCACATACAGACACAACCACACCACACTCACACACACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACACATACA CACTCACATACAGACACAACCACACCACACACACACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181925	C C	CTCACATA others(562): Show CTCACATACAGACACAACCACACCACACTCACACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACACACACATACACACTCACATACAGACAC AACCACACCACACTCACACATACACACTCACATACAGACACAACCACACC ACACTCACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACATACACA CTCACATACAGACACAACCACACCACACTCACACACACATACACACTCAC ATACAGACACAACCACACCACACTCACACACACACATACACACTCACATA CAGACACAACCACACCACACTCACACACACACATACACACTCACATACAG ACACAACCACACCACACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACATACAG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0363 a0002c0002t0001g0363	1	460	0.0022	569	c.193 others(586): Show c.1938+737_1938+738insCACTCACATACAGACACAACCACACCAC ACTCACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACATACACACTCACATACAGACACA ACCACACCACACTCACACACACACATACACACTCACATACAGACACAACC ACACCACACTCACACACACACATACACACTCACATACAGACACAACCACA CCACACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACATACAGTCACATACAGACACAACCACACCACACTCACACACACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACACATACA CACTCACATACAGACACAACCACACCACACACACACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181925	C C	CTCACATA others(562): Show CTCACATACAGACACAACCACACCACACTCACACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACACACACATACACACTCACATACAGACAC AACCACACCACACTCACACATACACACTCACATACAGACACAACCACACC ACACTCACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACATAC ACACTCACATACAGACACAACCACACCACACTCACACACACATACACACT CACATACAGACACAACCACACCACACTCACACACACATACACACTCACAT ACAGACACAACCACACCACACTCACACACACACATACACACTCACATACA GACACAACCACACCACACTCACACACACACATACACACTCACATACAGAC ACAACCACACCACACACACACACACTCACATACAGACACAACCACACCAC ACTCACACACACATACACAG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	460	0.0022	569	c.193 others(586): Show c.1938+737_1938+738insCACTCACATACAGACACAACCACACCAC ACTCACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACACTCACATACAGACACAACCACACCACACTCACACACACACACTCAC ATACAGACACAACCACACCACACTCACACACACACATACACACTCACATA CAGACACAACCACACCACACTCACACACACATACACACTCACATACAGAC ACAACCACACCACACTCACACACACATACACACTCACATACAGACACAAC CACACCACACTCACACACACACATACACACTCACATACAGACACAACCAC ACCACACTCACACACACACATACACACTCACATACAGACACAACCACACC ACACACACACACACTCACATACAGACACAACCACACCACACTCACACACA CATACACAGTCACATACAGACACAACCACACCACACTCACACACACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACACATACA CACTCACATACAGACACAACCACACCACACACACACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181973	T T	TCACATAC others(562): Show TCACATACAGACACAACCACACCACACTCACACACACACATACACACTCA CATACAGACACAACCACACCACACACACACATACACACTCACATACAGAC ACAACCACACCACACTCACACATACACACTCACATACAGACACAACCACA CCACACTCACACACACACACTCACATACAGACACAACCACACCACACTCA CACACACACACACTCACATACAGACACAACCACACCACACTCACACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACATA CACACTCACATACAGACACAACCACACCACACTCACACACACATACACAC TCACATACAGACACAACCACACCACACTCACACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACACATACACACTCACAT ACAGACACAACCACACCACACACACACACACTCACATACAGACACAACCA CACCACACTCACACACACATACACAGTCACATACAGACACAACCACACCA CACTCACACACACACATACA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0157 a0003c0003t0002g0157	1	460	0.0022	569	c.193 others(586): Show c.1938+737_1938+738insCACTCACATACAGACACAACCACACCAC ACTCACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACATACACACTCACATAC AGACACAACCACACCACACTCACACACACATACACACTCACATACAGACA CAACCACACCACACTCACACACACACATACACACTCACATACAGACACAA CCACACCACACTCACACACACACATACACACTCACATACAGACACAACCA CACCACACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACATACACAGTCACATACAGACACAACCACACCACACTCACACACAC ACATACACACATACAGACACAACCACACCACACTCACACACACACATACA CACTCACATACAGACACAACCACACCACACACACACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182013	T T	TACACACT others(562): Show TACACACTCACATACAGACACAACCACACCACACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACATACACACTCACATACAGA CACAACCACACCACACTCACACACACACACTCACATACAGACACAACCAC ACCACACTCACACACACACACACTCACATACAGACACAACCACACCACAC TCACACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACATACACACTCACATACAGACACAACCACACCACACTCACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACACA TACACACTCACATACAGACACAACCACACCACACTCACACACACACATAC ACACTCACATACAGACACAACCACACCACACACACACACACTCACATACA GACACAACCACACCACACTCACACACACATACACAGTCACATACAGACAC AACCACACCACACTCACACACACACATACACACTCACATACAGACACAAC CACACCACACTCACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	460	0.0022	569	c.193 others(586): Show c.1938+737_1938+738insCACTCACATACAGACACAACCACACCAC ACTCACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACATACACACTCACATAC AGACACAACCACACCACACTCACACACACATACACACTCACATACAGACA CAACCACACCACACTCACACACACACATACACACTCACATACAGACACAA CCACACCACACTCACACACACACATACACACTCACATACAGACACAACCA CACCACACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACATACACAGTCACATACAGACACAACCACACCACACTCACACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACACA CACTCACATACAGACACAACCACACCACACACACACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC6_chr10_59783747_59911556	59882384	G G	GGGGAGAA others(562): Show GGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAA GGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAG GAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAA GCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCG CGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGA GAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGA AAGGAAAGCCGGCGGGAAAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGG AAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAG CCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGG GGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	288	0.0035	569	c.303 others(588): Show c.303+23737_303+23738insGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCT TTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCC TTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTC CTTCTCCCCCCGGCTTTCCTTTCCTTTTCCCGCCGGCTTTCCTTTCCTTC TCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCG GCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTT TCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCT TTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCC TTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCC CCGCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(562): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTC CCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCC CCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCC CTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	256	0.0039	569	c.-45 others(590): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCC TCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP46_chr10_132803392_132947570	132826463	A A	ATGGAGCC others(562): Show ATGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCACGGAGCCAGGC AGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGGAGGAGCCGGAGC CACAGAGACCAGCCACGGAGCCAGGCAGGGGCTGGAGCCACGGAGACCAG CCACGGAGCCAGGCAGGAGCCGGAGCCGCAGAGACCCACCACAGAGCCAG GCAGGAGTCGGAGCCACGGAGCCAGGCAGGAACTGGAGCCACAGAGACCA GCCACGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCACAGAGCCA GGCAGGAACCAGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGAGCCAG AGCCATGGAGCCAGGCAGGAGCCGGAGCCACAGAGACCAGCCACGGAGCC AGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCAGGAGCCG GAGCCACAGAGACCAGCCACGGAGCCAGGCAGGGGCCAGAGCCACGGAGA CCAGCCACGGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAG CCAGGCAGGAGCCGGAGCCG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0182 a0002c0002t0001g0182	1	246	0.0041	569	c.711 others(588): Show c.7117+6894_7117+6895insCGGCTCCGGCTCCTGCCTGGCTCCGT GGCTGGTCTCCGTGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCG TGGCTCTGGCCCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCCGGCTC CTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCCTGGCTCC GTGGCTGGTCTCTGTGGCTCCGGCTCCTGCCTGGCTCCATGGCTCTGGCT CCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCTGGTTCCTGCCTGGCTC TGTGGCTGGTCTCTGTGGCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCT CTGTGGCTCCAGTTCCTGCCTGGCTCCGTGGCTCCGACTCCTGCCTGGCT CTGTGGTGGGTCTCTGCGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTC TCCGTGGCTCCAGCCCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCCG GCTCCTCCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCCTGG CTCCGTGGCTGGTCTCTGTGGCTCTGGCTCCTGCCTGGCTCCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132826463	A A	ATGGAGCC others(562): Show ATGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCACGGAGCCAGGC AGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGGAGGAGCCGGAGC CACAGAGACCAGCCACGGAGCCAGGCAGGGGCTGGAGCCACGGAGACCAG CCACGGAGCCAGGCAGGAGCCGGAGCCGCAGAGACCCACCACAGAGCCAG GCAGGAGTCGGAGCCACGGAGCCAGGCAGGAACTGGAGCCACAGAGACCA GCCACGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCACGGAGCCA GGCAGGAACCAGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGAGCCAG AGCCATGGAGCCAGGCAGGAGCCGGAGCCACAGAGACCAGCCACGGAGCC AGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCAGGAGCCG GAGCCACAGAGACCAGCCACGGAGCCAGGCAGGGGCCAGAGCCACGGAGA CCAGCCACGGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAG CCAGGCAGGAGCCGGAGCCG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01993.hp1 HG01358.hp2 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0203 a0002c0002t0001g0195 a0002c0002t0001g0203	2	246	0.0081	569	c.711 others(588): Show c.7117+6894_7117+6895insCGGCTCCGGCTCCTGCCTGGCTCCGT GGCTGGTCTCCGTGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCG TGGCTCTGGCCCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCCGGCTC CTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCCTGGCTCC GTGGCTGGTCTCTGTGGCTCCGGCTCCTGCCTGGCTCCATGGCTCTGGCT CCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCTGGTTCCTGCCTGGCTC CGTGGCTGGTCTCTGTGGCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCT CTGTGGCTCCAGTTCCTGCCTGGCTCCGTGGCTCCGACTCCTGCCTGGCT CTGTGGTGGGTCTCTGCGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTC TCCGTGGCTCCAGCCCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCCG GCTCCTCCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCCTGG CTCCGTGGCTGGTCTCTGTGGCTCTGGCTCCTGCCTGGCTCCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888510	A A	ACCCCTGC others(562): Show ACCCCTGCCGCCTGCACCCCTGCCACCTTCACCCCTGCCGCCTGCACCCC TGCCACCTTCACCCCTGCCGCCTGCACCCCTGCCACCTTCACCCCTGCCG CATGCACCTGCCACCTTCACCCCTGCCGCCTGTACCCCTGCCACCTTCAC CCCTGCCGCCTGCACCCCTGCCACCTTCACCCCTGCCGCCTGCACCCCTG CCACCTTCACCCCTGCCGCCTGCACCCCTGCCACCTTCACCCCTGCCGCA TGCACCTGCCACCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGCACCC CTGCCGCCTGCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGC CTGCACCTGCCACCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGCACC TGCCACCTTCACCCCTGCCGCCTGCACCCCTGCCGCCTGCACCTGCCACC TTCACCCCTGCCGCCTGCATCTGCCACCTTCACCCCTGCCGCCTGCACCC CTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCT TCACCCCTGCCACCTTCACC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0001 a0009c0021t0001	a0009c0021t0001g0244 a0009c0021t0001g0244	1	246	0.0041	569	c.330 others(588): Show c.3305-2552_3305-2551insGGTGAAGGTGGCAGGGGTGAAGGTGG CAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGC AGGCGGCAGGGGTGAAGGTGGCAGATGCAGGCGGCAGGGGTGAAGGTGGC AGGTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCA GGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCA GGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGC AGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGTGGCAGGTGCATGCGGC AGGGGTGAAGGTGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGG TGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGCAGGCGGCAGGGGTGAAG GTGGCAGGGGTACAGGCGGCAGGGGTGAAGGTGGCAGGTGCATGCGGCAG GGGTGAAGGTGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTG CAGGCGGCAGGGGTGAAGGTGGCAGGGGTGCAGGCGGCAGGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
COL4A2_chr13_110302284_110518209	110481700	T T	TTCTGTCC others(562): Show TTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGG AGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACACAGTTCTGTCCTT CCATTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACTGT TCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGA GACACACAGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTC CGTTGCTGGAGACACACAGTTCTGTCCTTCCATTGCTGGAGACACACTGT TCTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCTTCCATTGCTGGA GACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCTTC CATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACAGT TCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGA GACACACAGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTC CGTTGCTGGAGACACACTGC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0009 a0009	a0009c0057 a0009c0057	a0009c0057t0001 a0009c0057t0001	a0009c0057t0001g0234 a0009c0057t0001g0234	1	372	0.0027	569	c.275 others(586): Show c.2759-809_2759-808insCTCCGTTGCTGGAGACACACTGCTCTGT CCTTCCATTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAGACAC ACAGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTGC TGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTC CCTCCGTTGCTGGAGACACACAGTTCTGTCCTTCCATTGCTGGAGACACA CTGTTCTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCTTCCATTGC TGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTC CTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACA CAGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGC TGGAGACACACAGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTC CTTCCGTTGCTGGAGACACACAGTTCTGTCCTTCCATTGCTGGAGACACA CTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(562): Show CCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCA CCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCACCCATCCCCC CACCCACCCATCCGTCCACCCATCTGTCCACCCGTCCGTCCATCCATCCC CCCGCCCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACC CATCTGTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTG TCCACCCATCTGTCCACCCATCTGTCCACCCATCCATCCACCCATCCCCC CACCCACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCC CCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCCCCCACCCACC CGTCCGTCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCA CCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCC CACCCATCCGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCA TCTGTCCACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0304 a0002c0004t0002g0304	1	348	0.0029	569	c.13 others(580): Show c.1317_*1318insCCCCGCCCACCCATCTGTCCACCCATCCGTCCAT CCATCCCCCCACCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCC ACCCACCCATCCCCCCACCCACCCATCCGTCCACCCATCTGTCCACCCGT CCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCC ATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCGCCCACCCATCCGT CCACCCACCCATCTGTCCACCCATCTGTCCACCCATCTGTCCACCCATCC ATCCACCCATCCCCCCACCCACCCATCCATCCATCCCCCCACCCACCCAT CCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCC ATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCCAT CCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCC GTCCACCCATCCCCCCACCCATCCGTCCACCCATCCATCCACTCACCCAT CCGTCCACTCACCCATCTGTCCACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(562): Show TGAGGAAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGGGAG GGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGAGGAGGGGGAGG GGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGGAGGGG GAGAGGACGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0090 a0001c0090	a0001c0090t0001 a0001c0090t0001	a0001c0090t0001g0027 a0001c0090t0001g0027	1	126	0.0079	569	c.416 others(590): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCGTCCTCTCCCCC TCCCCCTCCCCTCCCCGTCCTCTCCCCCTCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCTCTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCC CCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCACATCCCCCTCACATCCCCCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar

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Search Results (Total: 10000 hits)