Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL4A1_chr13_110143963_110312157	110255845	G G	GAAGGGGG others(871): Show GAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAAGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAA GGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0001 a0001c0052t0001	a0001c0052t0001g0149 a0001c0052t0001g0149	1	344	0.0029	878	c.85- others(895): Show c.85-13112_85-13111insTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGC CTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCTTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CPNE7_chr16_89570758_89602246	89588191	G G	GCCCCCGT others(871): Show GCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATAC ACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGT GTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTG TCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCC CGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGGCCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCAC CCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACC CACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACG GCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCCGT GTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGA TACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCC CGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCAC AGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCAC CCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACG GCCCCCCGTGTCACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0206 a0001c0002t0003g0206	1	348	0.0029	878	c.928 others(893): Show c.928-470_928-469insACAGATACACGGCCCCCCGTGTCACCCACA GATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCC CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC GCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGG CCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCCCGTGTCACCCGCGTGTCACCCACAGATAC ACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGT GTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTG TCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAT ACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCC GTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCG TGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCC CCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCC ACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG CCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTA CCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGT GTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGAT ACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DGKB_chr7_14140049_14907751	14471369	A A	ACATACAT others(871): Show ACATACATATATGTGTGTATATATGTGTATACATACATATATGTGTGTAT ATATGTGTATACATACATATATGTGTGTATATATGTGTATATATACATAT ATGTGTGTATATATACATATATGTGTGTATATGTGTGTATACATACATAT ATGTGTGTATATGCGTGTATATATGTGTATACACACATATGCGCGTGTAT ATATGTGTATACACACATATGCGCGTGTATATATGTGTATACACACATAT GCGCGTGTATATATGTGTATACACACATATGCGCGTGTATATATGTGTAT ACACACATATGCGCGTGTATATATGTGTATACACACATATGCGCGTGTAT ATGTGTGTATACACACATATGCGCGTGTATATGTGTGTATACACACATAT GCGCGTGTATATGTGTGTATACACACATATGCGCGTGTATATGTGTGTAT ACACACATATGCGCGTGTATATGTGTGTATACACACATATGCGCGTGTAT ATGTGTGTATACACATATGCGTGTGTATATGTGTGTATACACATATGCGT GTGTATATGTGTGTATATACATATGCGTGTGTATATGTGTGTATATACAT ATGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATATGTGTGTAT ATACATATGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATATGT GTGTATATACATATGCGTGTGTATATGTGTGTATATACATATATATGAGT GTATATGTGTGTATATACATATATATGAGTGTATATATGTGTATATATAC ATATATATGCGTGTATATATACGTATATATGCATGTATATATGTGTATAC ATACATATATGCATGTATATATGTGTATT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0123 a0001c0001t0008g0123	1	148	0.0068	878	c.183 others(897): Show c.1835+6791_1835+6792insAATACACATATATACATGCATATATG TATGTATACACATATATACATGCATATATACGTATATATACACGCATATA TATGTATATATACACATATATACACTCATATATATGTATATACACACATA TACACTCATATATATGTATATACACACATATACACACGCATATGTATATA CACACATATACACACGCATATGTATATACACACATATACACACGCATATG TATATACACACATATACACACGCATATGTATATACACACATATACACACG CATATGTATATACACACATATACACACGCATATGTATATACACACATATA CACACGCATATGTGTATACACACATATACACACGCATATGTGTATACACA CATATACACGCGCATATGTGTGTATACACACATATACACGCGCATATGTG TGTATACACACATATACACGCGCATATGTGTGTATACACACATATACACG CGCATATGTGTGTATACACACATATACACGCGCATATGTGTGTATACACA CATATACACGCGCATATGTGTGTATACACATATATACACGCGCATATGTG TGTATACACATATATACACGCGCATATGTGTGTATACACATATATACACG CGCATATGTGTGTATACACATATATACACGCGCATATGTGTGTATACACA TATATACACGCGCATATGTGTGTATACACATATATACACGCATATACACA CATATATGTATGTATACACACATATACACACATATATGTATATATACACA CATATATGTATATATACACATATATACACACATATATGTATGTATACACA TATATACACACATATATGTATGTATACACATATATACACACATATATGTA TG	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCTCCACC others(871): Show CCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCACCAG CACTTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCA CCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACC TCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAC CACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCACCAGCA CTTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACC ATCACCACCACCTCCACCATCACCACCAGCATCTTCACCATCACCACCAC CTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCA CCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCACCAGC ACTTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCAC CATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCT CCACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACC TCCACCACCAGCACTTCCACCATCACCACCTCCACCACCTCCACCACCAC CGTCACCACCTTCTCCACCACCACCATCTTCACCACCACCACCATCGCCC TGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATATCACT ACCTCCTCCACCATCACCACCATCACCTCCACCACCACCACCTCCTCCAC CATCACCACCTCCTTCACCATCACCATCA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0156 a0003c0004t0001g0156	1	256	0.0039	878	c.323 others(897): Show c.3234+1214_3234+1215insTCCACCATCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCA CCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACC ATCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAG CATCTTCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCA CCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACC ACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCAT CACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCA GCATCTTCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCAC CACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCA TCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGC ATCTTCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCAC CACCACCTCCACCACCACCACCTCCACCACCAGCACTTCCACCATCACCA CCTCCACCACCTCCACCACCACCGTCACCACCTTCTCCACCACCACCATC TTCACCACCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTT TCCTATCACCTCCAATATCACTACCTCCTCCACCATCACCACCATCACCT CCACCACCACCACCTCCTCCACCATCACCACCTCCTTCACCATCACCATC AC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRAMD1B_chr11_123425269_123632767	123584374	T T	TGGGAGGG others(871): Show TGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCGATTGGGG GAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGG GGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGA ATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGG AGGTTGGGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGT TGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGG GGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAA GGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGG TGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTG GGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGAT GCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCT GTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCGGTT GGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGG GAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGG GGGAATGGAGGTTGGGGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATG GAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGG TTGGGGGAAGGGGTGTGGGGTGCGGTTGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp1 HG02258.hp2 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0238 a0001c0003t0036g0252 a0001c0003t0036g0238 a0001c0003t0036g0252	2	282	0.0071	878	c.684 others(891): Show c.684+66_684+67insGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATG GAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGG TTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGG GGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGA AGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGG GTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGT GGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGG TGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCG GTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGATGCGATTG GGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCTGTTGGGG GAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAG GGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATG GAGGTTGGGGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAG GTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTG GGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGG AAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GTPBP6_chrX_299759_323796	321751	C C	CAAAAAAA others(871): Show CAAAAAAAAAAAAAAAGAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTG GGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATC TACAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAA AAAAAAGAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGT GGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGA GTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAA AAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTACCTGTGGTCCCAGC TGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACAC CAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAA AAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCT GAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGCAAT ATGGTAAGACCCTATTATCTACAAAAAAAAAAAAAAAAAAAAAAAGAAAG AAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGG ACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGG GCAATATGGTAAGACCCCATTATCTACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0022 a0022	a0022c0033 a0022c0033	a0022c0033t0002 a0022c0033t0002	a0022c0033t0002g0140 a0022c0033t0002g0140	1	155	0.0065	878	c.-29 others(889): Show c.-2965_-2964insTTGTAGATAATGGGGTCTTACCATATTGCCCATG CTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGA GCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTC TTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGC CCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGT CCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTTTTT TTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTC AAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGG GACCACAGGTACCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTT TGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTG GGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGG CACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTCTTTTTTTTTTT TTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCT GGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAG GCACCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTGTAGATAA TGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGC AATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCA CCACGCCCGGCTAATTTTTCTTTTCTTTCTTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		2956		chrX	TogoVar
KIF25_chr6_167992671_168050091	167997457	G G	GGGGGGCG others(871): Show GGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGG GGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGA CGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGG GGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGTGGGGG AATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCT GCAGAGATGGGGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAATCTGCA GAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAATCTGCAG AGATGGGGGGCGGGGGAGTCTGCAGAGATGGGGGGCGGGGGAATCTGCAG AGATGGGGGGCGGGGGAGTCTGCAGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0231 a0002c0002t0001g0231	1	375	0.0027	878	c.-20 others(889): Show c.-2012_-2011insGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCT GCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAG AGATGGGGGTGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTG GGGGCGGGGGAATCTGCAGAGATGGGGGTGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGC CGGGGGAATCTGCAGAGATGGGGGGCGGGGGAGTCTGCAGAGATGGGGGG CGGGGGAATCTGCAGAGATGGGGGGCGGGGGAGTCTGCAGAGGT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		213		chr6	TogoVar
KIRREL3_chr11_126418358_127005770	126632693	G G	GCCTCCTT others(871): Show GCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGCAGCCCTG GGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACATGGGTGA GAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGTAAAGCCT GCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGGGAGATAA AAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCTAATATGC AGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAGAAGAAGA AAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAACGGTAGCGGCTATCC AAGGTGCGGACAACAGCCCTTATAGCCCTTATGCAGCTCAGATGCCCACT CCATGACAGGTATGAGCTGACCTGGGCATGCATTCTCTGCAGGGAGACAA TTACTGTTGCTGTGTGTGACAGGGTTGATACATCCTGCTGAAGGTAGGCA TCTCTGTGTTTCCTTATTTTGTAATCCTTTCAAGCCTTCTGAATCCAGCC TCTGTCTCCAGCTGTCCAGTTCTGGACAAGCCTGCTACTCAGTGGAACCC CTCGTTTCTACCCCCAGGTGGTCTAGGCACTGAGGCTACAGAGGGCTATA AGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTCCTTCCTTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC CTCCTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTT TTCTCTCTCTCTCTCTCTCTCCCCACAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0039 a0001c0004t0039	a0001c0004t0039g0068 a0001c0004t0039g0068	1	114	0.0088	878	c.56- others(895): Show c.56-69782_56-69781insTTTGTGGGGAGAGAGAGAGAGAGAGAGA AAAGAAGAAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGA GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAAGGAAGGAACGGTAGCGGCTATCCAAGGTGCGGACAACAGCCC TTATAGCCCTCTGTAGCCTCAGTGCCTAGACCACCTGGGGGTAGAAACGA GGGGTTCCACTGAGTAGCAGGCTTGTCCAGAACTGGACAGCTGGAGACAG AGGCTGGATTCAGAAGGCTTGAAAGGATTACAAAATAAGGAAACACAGAG ATGCCTACCTTCAGCAGGATGTATCAACCCTGTCACACACAGCAACAGTA ATTGTCTCCCTGCAGAGAATGCATGCCCAGGTCAGCTCATACCTGTCATG GAGTGGGCATCTGAGCTGCATAAGGGCTATAAGGGCTGTTGTCCGCACCT TGGATAGCCGCTACCGTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCCTCCTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCTTT TTCTTCTTCTTTTCTCTCTCTCTCTCTCTCTCCCCACAAGCCTCCTCCAC TGCATATTAGCCACTGCTGTAACAAGTATACTAATGTCTCCTCATCAATT TTTATCTCCCAATGCCCAGTATGCAGCAACGATATGAACAAGAGTTCAGG CAGGCTTTACAGGATTCCCACCAGGTTGGGTGGGAGGTGCGGACATGCTT CTCACCCATGTTTTCTGGCATTCGCAGTCCCTCACTCAATTGCCCCCTCC CCAGGGCTGCTCTTGGGCAGGACAGAAAAGCAGCTGCACAGGGAAGGAGG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36055104	T T	TGCATAGA others(871): Show TGCATAGAGGGATAGTTGGATGAATGGATGGATGGATAGATGGATGGATG GATGGGTGGATGAATGGATGGATGGATGCATGGATGGATGGATGGATGGT TGGATGAATGGATGGATGGGTGCATGGATGGATGGATGGATGGATGGATG AATGGATGGATGGGTGCATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGCATGGATGGATGGACGATGGATACATGGATGCATGGATGGATGG ATGCATGGATGGATGGATGATGGATACATGGATGCATGGATGGATGGTTG GATGGATGGATGCATGGATGCATGGATGGATGGATGCATGGGTGGATGGA TGCATGGATGGATGGATGGATGGATGGATGGATAAATGGATGCATGGATG CATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATAGATGCATGGATGGATGGATGAATGGATGGATGGATGGATGGATG GATAGATGGATGAATGGATGAATGGATGAATGGATGGATGAGTAGGTGGA AGGGTAGATAGATAGATGGGTGGGTCAGTGGATGGATGGATAGTTGGGTG GTTGAGTAGGTGGATGGATGAATGGGTAGATTTATGGGCCGATGTGTAAA GACAGAGGTCTCTCATTCCACAACCACATGTCCTACTGGAAGCCTTCTCT CCCTTCCTATCCAGGCTAGGTAGATGCCCCTTGTCCCTGCTCCCATAGCA TTGCCTCTCTCTACATTTGACTTGTAAACAAGAAGATACAGTAAACTGTT ATAGTTTTCATTTTCCAAGGAATCAGATGCTTCAGTACAGCCAGGAAAAG GTCTGATACACCTTGTTCACTGTTATCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	236	0.0042	878	c.193 others(897): Show c.193+18855_193+18856insGCATAGAGGGATAGTTGGATGAATGG ATGGATGGATAGATGGATGGATGGATGGGTGGATGAATGGATGGATGGAT GCATGGATGGATGGATGGATGGTTGGATGAATGGATGGATGGGTGCATGG ATGGATGGATGGATGGATGGATGAATGGATGGATGGGTGCATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGCATGGATGGATGGACGATGGA TACATGGATGCATGGATGGATGGATGCATGGATGGATGGATGATGGATAC ATGGATGCATGGATGGATGGTTGGATGGATGGATGCATGGATGCATGGAT GGATGGATGCATGGGTGGATGGATGCATGGATGGATGGATGGATGGATGG ATGGATAAATGGATGCATGGATGCATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGCATGGATGGATGGATGA ATGGATGGATGGATGGATGGATGGATAGATGGATGAATGGATGAATGGAT GAATGGATGGATGAGTAGGTGGAAGGGTAGATAGATAGATGGGTGGGTCA GTGGATGGATGGATAGTTGGGTGGTTGAGTAGGTGGATGGATGAATGGGT AGATTTATGGGCCGATGTGTAAAGACAGAGGTCTCTCATTCCACAACCAC ATGTCCTACTGGAAGCCTTCTCTCCCTTCCTATCCAGGCTAGGTAGATGC CCCTTGTCCCTGCTCCCATAGCATTGCCTCTCTCTACATTTGACTTGTAA ACAAGAAGATACAGTAAACTGTTATAGTTTTCATTTTCCAAGGAATCAGA TGCTTCAGTACAGCCAGGAAAAGGTCTGATACACCTTGTTCACTGTTATC CC	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	2/5			chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36055104	T T	TGCATAGA others(871): Show TGCATAGAGGGATAGTTGGATGAATGGATGGATGGATAGATGGATGGATG GATGGGTGGATGAATGGATGGATGGATGCATGGATGGATGGATGGATGGT TGGATGAATGGATGGATGGGTGCATGGATGGATGGATGGATGGATGGATG GATGAATGGATGGATGGGTGCATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGCATGGATGGATGGACGATGGATACATGGATGCATGG ATGGATGGATGCATGGATGGATGGATGATGGATACATGGATGCATGGATG GATGGTTGGATGGATGGATGCATGGATGCATGGATGGATGGATGCATGGG TGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATAAATGGATG CATGGATGCATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATAGATGCATGGATGGATGGATGAATGGATGGATG GATGGATGGATGAATGGATGAATGGATGAATGGATGGATGAGTAGGTGGA AGGGTAGATAGATAGATGGGTGGGTCAGTGGATGGATGGATAGTTGGGTG GTTGAGTAGGTGGATGGATGAATGGGTAGATTTATGGGCCGATGTGTAAA GACAGAGGTCTCTCATTCCACAACCACATGTCCTACTGGAAGCCTTCTCT CCCTTCCTATCCAGGCTAGGTAGATGCCCCTTGTCCCTGCTCCCATAGCA TTGCCTCTCTCTACATTTGACTTGTAAACAAGAAGATACAGTAAACTGTT ATAGTTTTCATTTTCCAAGGAATCAGATGCTTCAGTACAGCCAGGAAAAG GTCTGATACACCTTGTTCACTGTTATCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0128 a0001c0002t0003g0128	1	236	0.0042	878	c.193 others(897): Show c.193+18855_193+18856insGCATAGAGGGATAGTTGGATGAATGG ATGGATGGATAGATGGATGGATGGATGGGTGGATGAATGGATGGATGGAT GCATGGATGGATGGATGGATGGTTGGATGAATGGATGGATGGGTGCATGG ATGGATGGATGGATGGATGGATGGATGAATGGATGGATGGGTGCATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGCATGGATGGATGG ACGATGGATACATGGATGCATGGATGGATGGATGCATGGATGGATGGATG ATGGATACATGGATGCATGGATGGATGGTTGGATGGATGGATGCATGGAT GCATGGATGGATGGATGCATGGGTGGATGGATGCATGGATGGATGGATGG ATGGATGGATGGATAAATGGATGCATGGATGCATGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGCATGG ATGGATGGATGAATGGATGGATGGATGGATGGATGAATGGATGAATGGAT GAATGGATGGATGAGTAGGTGGAAGGGTAGATAGATAGATGGGTGGGTCA GTGGATGGATGGATAGTTGGGTGGTTGAGTAGGTGGATGGATGAATGGGT AGATTTATGGGCCGATGTGTAAAGACAGAGGTCTCTCATTCCACAACCAC ATGTCCTACTGGAAGCCTTCTCTCCCTTCCTATCCAGGCTAGGTAGATGC CCCTTGTCCCTGCTCCCATAGCATTGCCTCTCTCTACATTTGACTTGTAA ACAAGAAGATACAGTAAACTGTTATAGTTTTCATTTTCCAAGGAATCAGA TGCTTCAGTACAGCCAGGAAAAGGTCTGATACACCTTGTTCACTGTTATC CC	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	2/5			chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36055104	T T	TGCATAGA others(871): Show TGCATAGAGGGATAGTTGGATGAATGGATGGATGGATAGATGGATGGATG GATGGGTGGATGAATGGATGGATGGATGCATGGATGGATGGATGGATGGT TGGATGAATGGATGGATGGGTGCATGGATGGATGGATGGATGGATGGATG GATGAATGGATGGATGGGTGCATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGCATGGATGGATGGACGATGGATACATGGATGCATGG ATGGATGGATGCATGGATGGATGGATGATGGATACATGGATGCATGGATG GATGGTTGGATGGATGGATGCATGGATGCATGGATGGATGGATGCATGGG TGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATGGATAAATG GATGCATGGATGCATGGATGGATGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATAGATGCATGGATGGATGGATGAATGGATGGATG GATGGATGGATGAATGGATGAATGGATGAATGGATGGATGAGTAGGTGGA AGGGTAGATAGATAGATGGGTGGGTCAGTGGATGGATGGATAGTTGGGTG GTTGAGTAGGTGGATGGATGAATGGGTAGATTTATGGGCCGATGTGTAAA GACAGAGGTCTCTCATTCCACAACCACATGTCCTACTGGAAGCCTTCTCT CCCTTCCTATCCAGGCTAGGTAGATGCCCCTTGTCCCTGCTCCCATAGCA TTGCCTCTCTCTACATTTGACTTGTAAACAAGAAGATACAGTAAACTGTT ATAGTTTTCATTTTCCAAGGAATCAGATGCTTCAGTACAGCCAGGAAAAG GTCTGATACACCTTGTTCACTGTTATCCC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	236	0.0042	878	c.193 others(897): Show c.193+18855_193+18856insGCATAGAGGGATAGTTGGATGAATGG ATGGATGGATAGATGGATGGATGGATGGGTGGATGAATGGATGGATGGAT GCATGGATGGATGGATGGATGGTTGGATGAATGGATGGATGGGTGCATGG ATGGATGGATGGATGGATGGATGGATGAATGGATGGATGGGTGCATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGCATGGATGGATGG ACGATGGATACATGGATGCATGGATGGATGGATGCATGGATGGATGGATG ATGGATACATGGATGCATGGATGGATGGTTGGATGGATGGATGCATGGAT GCATGGATGGATGGATGCATGGGTGGATGGATGCATGGATGGATGGATGG ATGGATGGATGGATGGATAAATGGATGCATGGATGCATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGCATGG ATGGATGGATGAATGGATGGATGGATGGATGGATGAATGGATGAATGGAT GAATGGATGGATGAGTAGGTGGAAGGGTAGATAGATAGATGGGTGGGTCA GTGGATGGATGGATAGTTGGGTGGTTGAGTAGGTGGATGGATGAATGGGT AGATTTATGGGCCGATGTGTAAAGACAGAGGTCTCTCATTCCACAACCAC ATGTCCTACTGGAAGCCTTCTCTCCCTTCCTATCCAGGCTAGGTAGATGC CCCTTGTCCCTGCTCCCATAGCATTGCCTCTCTCTACATTTGACTTGTAA ACAAGAAGATACAGTAAACTGTTATAGTTTTCATTTTCCAAGGAATCAGA TGCTTCAGTACAGCCAGGAAAAGGTCTGATACACCTTGTTCACTGTTATC CC	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	2/5			chr11	TogoVar
LHPP_chr10_124456823_124619141	124507267	C C	CAGGATTT others(871): Show CAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTGGGGGGGTAGGCAGGATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTT CAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCA GGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAG GTGGGGGGGGTAGACAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAG GTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGT GTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG AGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGT GGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTG GAGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTCGGGGGG GTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGAGGGGGGTAGGG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	260	0.0039	878	c.624 others(895): Show c.624+9161_624+9162insACAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGGGGGGGTAGGCAGGATTTCAGGTGGGGGGGTAGGGAGGATTT CAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTC AGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAG GTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGG TGGGGGGGGTAGACAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGG TGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG TGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGA GGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTG GAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGG AGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGG GTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTCGGGGGGG TAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(871): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTATATATAGTCACATATGTATATAAAACTATATAGTCACATA TGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATATATAGT TATATGTATATAAAACTATATATAGTTATATGTATATAAAACTATAGTCA TATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATA CAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAAC TATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATA TAAAACTATACAGTCATATATGTATATAAAACTATATATAGTCATATATG TATATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCA TATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATAGT CATATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATAGT TATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTA TATATGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATG TATGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTA TGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATACACAGT TATGTATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATA CACAGTTATGTATGTATGTAAAACTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02922.hp1 HG02055.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	2	422	0.0047	878	c.-29 others(889): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAA CTATATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTATAT AAAACTATATATAGTTATATGTATATAAAACTATATATAGTTATATGTAT ATAAAACTATAGTCATATATGTATATAAAACTATATATAGTCATATATGT ATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCAT ATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATAC AGTCATATATGTATATAAAACTATACAGTCATATATGTATATAAAACTAT ATATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAA AACTATATATAGTCATATATGTATATAAAACTATATAGTCATATATGTAT ATAAAACTATATAGTCATATATGTATATAAAACTATATAGTCATATATGT ATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTAT ATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTAAAA CTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACT ATATACAGTTATGTATGTATGTAAAACTATACACAGTTATGTATGTATGT AAAACTATACACAGTTATGTATGTATGTAAAACTATACACAGTTATGTAT GTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(871): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTATATATAGTCACATATGTATATAAAACTATATAGTCACATA TGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATATATAGT TATATGTATATAAAACTATATATAGTTATATGTATATAAAACTATAGTCA TATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATA CAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAAC TATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATA TAAAACTATACAGTCATATATGTATATAAAACTATATATAGTCATATATG TATATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCA TATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATAGT CATATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATAGT TATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTA TATATGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATG TATGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTA TGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATACACAGT TATGTATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATA CACAGTTATGTATGTATGTAAAACTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	422	0.0024	878	c.-29 others(889): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAA CTATATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTATAT AAAACTATATATAGTTATATGTATATAAAACTATATATAGTTATATGTAT ATAAAACTATAGTCATATATGTATATAAAACTATATATAGTCATATATGT ATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCAT ATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATAC AGTCATATATGTATATAAAACTATACAGTCATATATGTATATAAAACTAT ATATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAA AACTATATATAGTCATATATGTATATAAAACTATATAGTCATATATGTAT ATAAAACTATATAGTCATATATGTATATAAAACTATATAGTCATATATGT ATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTAT ATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTAAAA CTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACT ATATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATGT AAAACTATACACAGTTATGTATGTATGTAAAACTATACACAGTTATGTAT GTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(871): Show CCTCCCCCTCTCCCTCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCT CCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTC CCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGT CCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCC CCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCC CCCTCCCTCTCCCCCTTTCCCCTCCCCCTCTTCCCCCTCCTCCTCATCCC CCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTCTCCCTCTCTCCC CTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTTCCCCCTCCCCCT CTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCC CTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCC TCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCC TCTCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCT TCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCC CCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCTCCTCTTCCCC TCCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCCCTCCCCCTCTCC CTCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCCTTCTCC CCCACCCCTCCCCACTCTCCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC CCTTCTCCCCCACCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0022 a0004c0008t0022	a0004c0008t0022g0053 a0004c0008t0022g0053	1	276	0.0036	878	c.100 others(897): Show c.1005+3279_1005+3280insTCCCTCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTC CCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCA CTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCCCCCTCTTCCCC CTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCC TCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTC TTCCCCCTCCCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCC CTCTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCC CCATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCC CCCATTCCCCTCCCTCTCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCC CTCTTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCC CCCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCC TCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCT CCCTCCCCCTCTCCCTCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCCTTCTCCCCCACCCCTCCCCACTCTCCCTCCCCCTCTCCCCCT CTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCCTCCCCCTCTCCCCC TC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCTCCA others(871): Show CCTCTCCATCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCTCCATCC ACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTCCCACTG CCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGTCCCCTC TCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCCCCTTCC CCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCCCCCTCC CTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCTTCCCCCTCCTCC TCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTCTCCCT CTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTTCCCCC TCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCCTCCCCCT CTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCTCTCCATC CCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTCTCCATC CTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTTCCCCCCTTCCCTCTC CCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCCCCACTCTC CTCCCCCACTCCCATCCCCATCTCCCCCTCCCCATCTCCCCCTCCTCCTC TTCCCCTCCCCCTCTCCCCCTCCCCACTCTGCCTCCCCATCTCCCCCTCC TCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCCCTCCCCCTCTCCCCC TCTCCCCCCTTCTCCCCCACCCCTCCCCACTCTCCCTCCCCCTCTCCCCC TCTCCCCCTTCTCCCCCACCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02258.hp2 HG02486.hp2 others(12): Show HG01361.hp1 HG02258.hp2 HG02486.hp2 HG02622.hp2 HG02738.hp2 HG02976.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp2 NA19030.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0010 others(3): Show a0001c0001 a0001c0006 a0001c0010 a0001c0017 a0002c0003 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0039 a0001c0006t0009 a0001c0006t0049 a0001c0010t0033 a0001c0017t0013 a0002c0003t0008 a0003c0009t0034	a0001c0001t0001g0037 a0001c0001t0001g0189 a0001c0001t0001g0238 others(12): Show a0001c0001t0001g0037 a0001c0001t0001g0189 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0002g0196 a0001c0001t0002g0258 a0001c0001t0004g0199 a0001c0001t0006g0062 a0001c0001t0039g0183 a0001c0006t0009g0088 a0001c0006t0049g0236 a0001c0010t0033g0152 a0001c0017t0013g0023 a0002c0003t0008g0082 a0003c0009t0034g0102	15	276	0.0544	878	c.100 others(897): Show c.1005+3273_1005+3274insTCCATCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTC CCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCA CTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCT CCCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCC ATCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTT CCCCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCT CTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCC ATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCC CATTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCC TCTTTCCCCCCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCC CCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCATCCCCATCTCCCCCTC CCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCT GCCTCCCCATCTCCCCCTCCTCCTCTCCCCCTCCCCACTCTCCCTCCCCC TCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCAC TCTCCCTCCCCCTCTCCCCCTCTCCCCCTTCTCCCCCACCCCTCCCCCTC TC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCTCCA others(871): Show CCTCTCCATCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCTCCATCC ACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTCCCACTG CCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGTCCCCTC TCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCCCCTTCC CCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCCCCCTCC CTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCTTCCCCCTCCTCC TCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTCTCCCT CTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTTCCCCC TCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCCTCCCCCT CTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCTCTCCATC CCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTCTCCATC CTCCTCCCCATCCCCTCTCCTCTCTCCCCTTCTTTCCCCCCTTCCCTCTC CCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCCCCACTCTC CTCCCCCACTCCCATCCCCATCTCCCCCTCCCCATCTCCCCCTCCTCCTC TTCCCCTCCCCCTCTCCCCCTCCCCACTCTGCCTCCCCATCTCCCCCTCC TCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCCCTCCCCCTCTCCCCC TCTCCCCCCTTCTCCCCCACCCCTCCCCACTCTCCCTCCCCCTCTCCCCC TCTCCCCCTTCTCCCCCACCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18906.hp2 HG02922.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0017 a0001c0006t0009 a0001c0001t0017 a0001c0006t0009	a0001c0001t0017g0051 a0001c0006t0009g0052 a0001c0001t0017g0051 a0001c0006t0009g0052	2	276	0.0073	878	c.100 others(897): Show c.1005+3273_1005+3274insTCCATCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTC CCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCA CTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCT CCCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCC ATCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTT CCCCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCT CTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCC ATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCC CATTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCT TCTTTCCCCCCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCC CCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCATCCCCATCTCCCCCTC CCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCT GCCTCCCCATCTCCCCCTCCTCCTCTCCCCCTCCCCACTCTCCCTCCCCC TCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCAC TCTCCCTCCCCCTCTCCCCCTCTCCCCCTTCTCCCCCACCCCTCCCCCTC TC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MFRP_chr11_119333942_119351705	119351503	C C	CCCTCCCC others(871): Show CCCTCCCCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTC TCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCTCCCCTCCCCTCCTCTCT CCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCC CTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTC CTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTC CGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTC CTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTC CCCTCCCCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTC TCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCC TCCGCTCCTCTCCCCTCCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCC TCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCC TCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCT TCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCC TCCCCTCTCCTCCACTCCTCTCCCCTCTCCTCCACTCCTCTCCCTCCCCT CCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCT CTCCTCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCACG GCTCCCCTCCCCTCCTTTCTCCTCCCTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	318	0.0031	878	c.-49 others(889): Show c.-4991_-4990insCAAGGGAGGAGAAAGGAGGGGAGGGGAGCCGTGG GAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGAGGAGAGGGG AGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGAGAGGAGGGG AGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGA GCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGGAG GAGAGAGGAGGGGAGGAGAGGGGAAGGGGAGGGGAGAGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGA GAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGG GAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCG GAGGAGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGAGAG AGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGGGAG GAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGAGGGGAGGGGAGG AGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGA GGAGGGGAGGGGAGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAGGGGAGG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4799		chr11	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(871): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCTCCCCTCCTCTCTCCTCCC CTCCCCTCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCTCCCCT CCCCTCCCTCCTCTCTCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCC CCTCCTGTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCGCTCCCCT CTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCCCCT CCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCT CCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCC TTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCT CTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCCC CTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCT CTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCTCCCTTCCCCTCTCC TCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTCC TCCACTCCTCTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCC TCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCC TCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCC TCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0032 a0002c0007t0001g0032	1	318	0.0031	878	c.-49 others(889): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGAG GGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAG CGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAG CGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAG GGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGGG AGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGGG AGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGGG AGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGG GGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGG GGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGACAGGAGGGGAGG GGAGGGGAGGAGAGAGGAGGGGAGGGGAGAGAGAGGAGGGAGGGGAGGGG AGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGAGGGGAGGGGAG GAGAGAGGAGGGGAGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(871): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGA GGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAA GAGGGAGAGGAGGGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAA GGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGG GGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGG AGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAAGGGGA AAAGGGGGAGGAGGCGGAGCAGTAGGGGGAGGAGAGTGAGGAGGGGAAGG ATGGGGAGGAGGGAAAAGAGGAGGAGGGGGAGGAGGAAGAGAAGGAAGGG GAGAAAGAAGAGGAGGAGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGAC AGGGAAGAGGGGGAAAGGAGGGTGAGGAGGAGGGAGAGAAGAGAGAGAAG GAAGAGAAAGAGGGGGAGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGAG GAGGAACAGGAGGAAGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0246 a0001c0002t0001g0246	1	280	0.0036	878	c.641 others(893): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCCTCCTCTCCCTCT TCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCT CCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCT CCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCC CTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTC CTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTC TCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTC TCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCC GCCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(871): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGG AAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGG TGGGGGGAAGGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGG AAAGGGGTGGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGGAAGGGG GGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGG GAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGA GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGG AGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGA GGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAG GGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAAGAGAGGGA GGGGGAGAGGGAGGGAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGAGGGA GGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAG GGATGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGG GAGGGGGAGGGAAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGG GGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	272	0.0037	878	c.250 others(893): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCATCCC TCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCT CCCTCCCTTCCCTCCCCCTCCCTCTCCCTCCCTTCCCTCCCTCTCCCCCT CCCTCTCTTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCC CCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCC CCCTTCCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCCACCCCTTTC CCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCCTTCCCCCCAC CCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTC CCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTC CTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218785	C C	CCCGCTGC others(871): Show CCCGCTGCGCTCCCCTCCCCGCCCCCCGCCCCTCGCCCCTCCCCTCTCCC CTCCCTCGCCCCGCCCCTCTTCCCTCCCCTCCTCGCTTCCCTCCCCTCCT CTCGTCCCTGCCCCTCCCCTCTCCCCTCCCGTCGCGCCCCTCCCGCTCCC CGCCCCTCCCCTCCTCCCCTCGCCCCTCCTCCCCTCCTCCCCTCCCCGCC TCCCCGCCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCGCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCTCCCCTCCCTCCCCTCCT CCCCTCCTCCCCTCCCTCTCCCTCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCTCCTCCCCT CCTCCCTCCTCCCTCCTCCCTCCCCTCCCCTCCTCCCCTCCTCTCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCCTCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCC CTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCC TCCCCTCCCCTCTCCTCCTCCCCTCCCTCTCCTCCTCCCCTCCCCTCCCA TCCCCTCCTCCCCTCCCCTCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0122	1	140	0.0071	878	c.114 others(897): Show c.1142-1813_1142-1812insGCTGCGCTCCCCTCCCCGCCCCCCGC CCCTCGCCCCTCCCCTCTCCCCTCCCTCGCCCCGCCCCTCTTCCCTCCCC TCCTCGCTTCCCTCCCCTCCTCTCGTCCCTGCCCCTCCCCTCTCCCCTCC CGTCGCGCCCCTCCCGCTCCCCGCCCCTCCCCTCCTCCCCTCGCCCCTCC TCCCCTCCTCCCCTCCCCGCCTCCCCGCCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCGCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCC TCCTCCCCTCCCTCCCCTCCTCCCCTCCTCCCCTCCCTCTCCCTCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCTCCCCTCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCTCCCCTCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCTCCTCCCCTCCTCCCTCCTCCCTCCTCCCTCCCCTCCC CTCCTCCCCTCCTCTCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCCTCCCTCCTCCCCTCCTCCTC TCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCC TCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCTC TCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCT CC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYO5A_chr15_52302283_52533880	52523965	G G	GACAGTGC others(871): Show GACAGTGCCATAGAATATAAAAGTGGATCTATCTCAGAAAAAATCTAGGC CATGTGGCTCCTGTATATATGAGAGGATATGTTGGGAATGGAAAGTTACA CATATACAATCTACTGACCTTAAGAGCTGTTTCATCTAGGCAAGTTAACA TGCTTTGCAAATGTGGAATTTTAGATTGTCTTTGCACTGTTACAATACTC AGCATCTCAGCACACATGGGAACCTCCTAATCAAACAGCTTCAGGTAAAA ACAAAACAAAACACAAAAGTAAACAAAAAAATTAAAACTTTTTTAAAATT AAAAATAAGCCAGGCATGGTGGCTCATGTCTGTAATCTCAACACTTTGAG TGGCCGAGGCAGGAGAATCATTTGACCTGAGGAGTTAGAGATCAGCCTGG GCAACACAGCAAGATCCTGTCTCTGTAAAAAGTACAAAAATTAGCTGGGT TTGGTAGCACATGCCTGTAGATTCAGCTACCCAGGAAGGTGAGGTGGGAG GATGGCTTGCACCTGGGAGGTCGATACTGCAATGAGCCATGTTCACACCA CTACACCTCAGCCTGGACAACAGAGTGAGACCCTGAACCTAAATAAATAA ATAAATAAATAAATAAAATAGGCTGGGTGTGGTGGCTCATGCCTGTAATC CCACACTATGGGAGGTGGAAGCAGGAGGATCACTTGAGTCCAGGAGTTTA AGACCAGCCTGGGCAACAAACTGAGACTATCTCTAGAAGAAATTTAAAAA TTAGCTGGGTGCATAGCTGTGGTCCCAGCTACTCACGAGGCTGAGGTGGG AGGACAGCTTGAGCCCAGGAGTTAAAGGCTACAGTGAGCCATGTTCATTT CACTGCACTCCAGCCTGGGTGACACAGCA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0088 a0002c0002t0002g0088	1	302	0.0033	878	c.27+ others(893): Show c.27+4814_27+4815insTGCTGTGTCACCCAGGCTGGAGTGCAGTGA AATGAACATGGCTCACTGTAGCCTTTAACTCCTGGGCTCAAGCTGTCCTC CCACCTCAGCCTCGTGAGTAGCTGGGACCACAGCTATGCACCCAGCTAAT TTTTAAATTTCTTCTAGAGATAGTCTCAGTTTGTTGCCCAGGCTGGTCTT AAACTCCTGGACTCAAGTGATCCTCCTGCTTCCACCTCCCATAGTGTGGG ATTACAGGCATGAGCCACCACACCCAGCCTATTTTATTTATTTATTTATT TATTTATTTAGGTTCAGGGTCTCACTCTGTTGTCCAGGCTGAGGTGTAGT GGTGTGAACATGGCTCATTGCAGTATCGACCTCCCAGGTGCAAGCCATCC TCCCACCTCACCTTCCTGGGTAGCTGAATCTACAGGCATGTGCTACCAAA CCCAGCTAATTTTTGTACTTTTTACAGAGACAGGATCTTGCTGTGTTGCC CAGGCTGATCTCTAACTCCTCAGGTCAAATGATTCTCCTGCCTCGGCCAC TCAAAGTGTTGAGATTACAGACATGAGCCACCATGCCTGGCTTATTTTTA ATTTTAAAAAAGTTTTAATTTTTTTGTTTACTTTTGTGTTTTGTTTTGTT TTTACCTGAAGCTGTTTGATTAGGAGGTTCCCATGTGTGCTGAGATGCTG AGTATTGTAACAGTGCAAAGACAATCTAAAATTCCACATTTGCAAAGCAT GTTAACTTGCCTAGATGAAACAGCTCTTAAGGTCAGTAGATTGTATATGT GTAACTTTCCATTCCCAACATATCCTCTCATATATACAGGAGCCACATGG CCTAGATTTTTTCTGAGATAGATCCACTTTTATATTCTATGGCACTGT	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	1/41			chr15	TogoVar
MYRIP_chr3_39804609_40265321	40203779	T T	TTATATAG others(871): Show TTATATAGTATATATGTGATATATTTATATATAAATATATGTGATATATT TATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATAAATATTTATATTTTATA TATTTATATATTTTATATATTTATATATAAATATTTATATTTTATATATT TATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATA TATTTTATGATTTTATAAAATATATAATTTATATAATTTATAAATTATAT AATTTATATATTATATATAATATGTTTATATTAAATATTATATATTATAT ATTATATATTATATATTTATATTAAATATTATATATTTATATATTATATA TAATATATTTATATTAAATATTATATATTTATATATTATATATATTTATA TTAAATATTATATATTTATATATTATATATATTTATATTAAATATTATAT ATTTATATATTATATATATTTATATTAAATATTATATATTTATATATTAT ATATATTTATATTAAATATTATATATTTATATATTATATATATTTATATT AAATATTATATATTTATATATTATATATATTTATATTAAATATTATATAT TTATATATTATATATATTTATATTAAATATTATATATTTATATATTATAT ATAATATATTTATATTGAATATTATATATTTATATATTATATATAATATA TTTATATTGAATATCATATATTTATATATTATATATAATATATTTATATT GAATATTATATATTTATATATTATATATAATATATTTATATTGAATATTA TATATTTATATATTATATAAATATATATG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	170	0.0059	878	c.166 others(897): Show c.1666-6072_1666-6071insATAGTATATATGTGATATATTTATAT ATAAATATATGTGATATATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATAAATATTTATATTTTATATATTTATATATTTTATATATTTATATATAA ATATTTATATTTTATATATTTATATATTTTATATATTTATATATAAATAT TTATATTTTATATATTTATATATTTTATGATTTTATAAAATATATAATTT ATATAATTTATAAATTATATAATTTATATATTATATATAATATGTTTATA TTAAATATTATATATTATATATTATATATTATATATTTATATTAAATATT ATATATTTATATATTATATATAATATATTTATATTAAATATTATATATTT ATATATTATATATATTTATATTAAATATTATATATTTATATATTATATAT ATTTATATTAAATATTATATATTTATATATTATATATATTTATATTAAAT ATTATATATTTATATATTATATATATTTATATTAAATATTATATATTTAT ATATTATATATATTTATATTAAATATTATATATTTATATATTATATATAT TTATATTAAATATTATATATTTATATATTATATATATTTATATTAAATAT TATATATTTATATATTATATATAATATATTTATATTGAATATTATATATT TATATATTATATATAATATATTTATATTGAATATCATATATTTATATATT ATATATAATATATTTATATTGAATATTATATATTTATATATTATATATAA TATATTTATATTGAATATTATATATTTATATATTATATAAATATATATGT AT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40203779	T T	TTATATAG others(871): Show TTATATAGTATATATGTGATATATTTATATATAAATATATGTGATATATT TATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATAAATATTTATATTTTATA TATTTATATATTTTATATATTTATATATAAATATTTATATTTTATATATT TATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATA TATTTTATGATTTTATAAAATATATAATTTATATAATTTATAAATTATAT AATTTATATATTATATATAATATGTTTATATTAAATATTATATATTATAT ATTATATATTATATATTTATATTAAATATTATATATTTATATATTATATA TAATATATTTATATTAAATATTATATATTTATATATTATATATATTTATA TTAAATATTATATATTTATATATTATTTATATTTATATTAAATATTATAT ATTTATATATTATATATATTTATATTAAATATTATATATTTATATATTAT ATATATTTATATTAAATATTATATATTTATATATTATATATATTTATATT AAATATTATATATTTATATATTATATATATTTATATTAAATATTATATAT TTATATATTATATATATTTATATTAAATATTATATATTTATATATTATAT ATAATATATTTATATTGAATATTATATATTTATATATTATATATAATATA TTTATATTGAATATTATATATTTATATATTATATATAATATATTTATATT GAATATTATATATTTATATATTATATATAATATATTTATATTGAATATTA TATATTTATATATTATATAAATATATATG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	170	0.0059	878	c.166 others(897): Show c.1666-6072_1666-6071insATAGTATATATGTGATATATTTATAT ATAAATATATGTGATATATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATAAATATTTATATTTTATATATTTATATATTTTATATATTTATATATAA ATATTTATATTTTATATATTTATATATTTTATATATTTATATATAAATAT TTATATTTTATATATTTATATATTTTATGATTTTATAAAATATATAATTT ATATAATTTATAAATTATATAATTTATATATTATATATAATATGTTTATA TTAAATATTATATATTATATATTATATATTATATATTTATATTAAATATT ATATATTTATATATTATATATAATATATTTATATTAAATATTATATATTT ATATATTATATATATTTATATTAAATATTATATATTTATATATTATTTAT ATTTATATTAAATATTATATATTTATATATTATATATATTTATATTAAAT ATTATATATTTATATATTATATATATTTATATTAAATATTATATATTTAT ATATTATATATATTTATATTAAATATTATATATTTATATATTATATATAT TTATATTAAATATTATATATTTATATATTATATATATTTATATTAAATAT TATATATTTATATATTATATATAATATATTTATATTGAATATTATATATT TATATATTATATATAATATATTTATATTGAATATTATATATTTATATATT ATATATAATATATTTATATTGAATATTATATATTTATATATTATATATAA TATATTTATATTGAATATTATATATTTATATATTATATAAATATATATGT AT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40203779	T T	TTATATAG others(871): Show TTATATAGTATATATGTGATATATTTATATATAAATATATGTGATATATT TATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATAAATATTTATATTTTATA TATTTATATATTTTATATATTTATATATAAATATTTATATTTTATATATT TATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATA TATTTTATGATTTTATAAAATATATAATTTATATAATTTATAAATTATAT AATTTATATATTATATATAATATGTTTATATTAAATATTATATATTATAT ATTATATATTATATATTTATATTAAATATTATATATTTATATATTATATA TAATATATTTATATTAAATATTATATATTTATATATTATATATATTTATA TTAAATATTATATATTTATATATTATTTATATTTATATTAAATATTATAT ATTTATATATTATTTATATTTATATTAAATATTATATATTTATATATTAT ATATATTTATATTAAATATTATATATTTATATATTATATATATTTATATT AAATATTATATATTTATATATTATATATATTTATATTAAATATTATATAT TTATATATTATATATATTTATATTAAATATTATATATTTATATATTATAT ATAATATATTTATATTGAATATTATATATTTATATATTATATATAATATA TTTATATTGAATATTATATATTTATATATTATATATAATATATTTATATT GAATATTATATATTTATATATTATATATAATATATTTATATTGAATATTA TATATTTATATATTATATAAATATATATG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	170	0.0059	878	c.166 others(897): Show c.1666-6072_1666-6071insATAGTATATATGTGATATATTTATAT ATAAATATATGTGATATATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATAAATATTTATATTTTATATATTTATATATTTTATATATTTATATATAA ATATTTATATTTTATATATTTATATATTTTATATATTTATATATAAATAT TTATATTTTATATATTTATATATTTTATGATTTTATAAAATATATAATTT ATATAATTTATAAATTATATAATTTATATATTATATATAATATGTTTATA TTAAATATTATATATTATATATTATATATTATATATTTATATTAAATATT ATATATTTATATATTATATATAATATATTTATATTAAATATTATATATTT ATATATTATATATATTTATATTAAATATTATATATTTATATATTATTTAT ATTTATATTAAATATTATATATTTATATATTATTTATATTTATATTAAAT ATTATATATTTATATATTATATATATTTATATTAAATATTATATATTTAT ATATTATATATATTTATATTAAATATTATATATTTATATATTATATATAT TTATATTAAATATTATATATTTATATATTATATATATTTATATTAAATAT TATATATTTATATATTATATATAATATATTTATATTGAATATTATATATT TATATATTATATATAATATATTTATATTGAATATTATATATTTATATATT ATATATAATATATTTATATTGAATATTATATATTTATATATTATATATAA TATATTTATATTGAATATTATATATTTATATATTATATAAATATATATGT AT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(871): Show GGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACGGTGCGGGGG GGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGGG ATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGC AGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGAC AGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGG GTGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAG GGACAGTGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTG GGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAAGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGCA GGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGCGATGGGCAGGGACAG TGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACGGTGAG GGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGG GGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAG GGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACA GTGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGG CGATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGGAT GGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGG ACAGTGGGGGGCGATGGGCAGGGACAGTA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	324	0.0031	878	c.141 others(895): Show c.141-4415_141-4414insTACTGTCCCTGCCCATCGCCCCCCACTG TCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCC CATCCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATC GCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCA CTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTC CCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATC CCCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCC CCTCACCGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCCATCCCCCCC ACTGTCCCTGCCCATCGCCCCACTGTCCTTGCCCATCCCCCTCACTGTCC CTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCC CACCCCCCACTGTCCTTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCC CCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCACTGTC CCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCA CCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCAC TGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCC TGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCA TCCCCCCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATC CCCCCCGCACCGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OPCML_chr11_132409981_133537501	133082514	C C	CTCCCCTC others(871): Show CTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCCTT CCCCTCCTCTCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCC CTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCACATCCCCCTTCCCCTC CTCCCCTCCTCATTCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTC ATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATC CTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTC TCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCC TCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCC CCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCC TCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCG CCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCC ATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATC CCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCC CTTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCT CCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCC CTCCTCATCCTCTCCTCCCCCTCGCCGATCCCCCTTCCCCTCCTCCCCTC CTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTC ATCCTCTCCTCCCCCTCGCCCATCCCCCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0068 a0001c0001t0012g0068	1	68	0.0147	878	c.62- others(897): Show c.62-139505_62-139504insAGGGGGATGGGCGAGGGGGAGGAGAG GATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGAT GAGGAGGGGAGGAGGGGAAGGGGGATCGGCGAGGGGGAGGAGAGGATGAG GAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAG GGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGG AAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAG GGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGG GATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGAT GGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGG CGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGA GGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGG GGAGGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGGATGGGCGAGGGGGA GGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGA GAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAG GATGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGAATGAGGAGGG GAGGAGGGGAAGGGGGATGTGCGAGGGGGAGGAGAGGATGAGGAGGGGAG GAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGAGAGGAG GGGAAGGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGG GA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(871): Show ATGTATATATATGTGTATATATGCATATATGTATATGCATATGTGTATAT ATGCATATATGTATATCCATGTGTGTATATATGCATATATGTATATGCAT GTGTGTATATATGCATATATGTATATGCATGTGTGTATATATACATATAT ATGTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGT GTGTATATATACATATATATGTATATGCATATGTGTGTATATATACACAT ATACATGTATATGCATATGTGTGTATATATACACATATACATGTATATGC ATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTATAT ATACACATATACATGTATATGCATATGTGTGTATATATACACATATACAT GTATATGCATATGTGTGTATATATACACATATACATGTATATGCATATGT GTGTATATATACACATATACATGTATATGCATATGTGTGTATATATACAC ATATACATGTATATGCATATGTGTGTATATATACACATATACATGTATAT GCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTAT ATATACACATATACATGTATATGCATATGTGTGTATATATACACATATAC ATGTATATGCATATGTGTGTATATATACACATATACATGTATATGCATAT GTGTGTATATATACACATATACATGTATATGCATATGTGTGTATATATAC ACATATACATGTATATGCATATGTGTGTATATATACACATATACATGTAT ATGCATATGTGTGTATATATACACATATATATGTGTGTGTATATATATGT GTGTGTATATATACACATATATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	456	0.0022	878	c.31 others(889): Show c.3116_*3117insTGTATATATATGTGTATATATGCATATATGTATA TGCATATGTGTATATATGCATATATGTATATCCATGTGTGTATATATGCA TATATGTATATGCATGTGTGTATATATGCATATATGTATATGCATGTGTG TATATATACATATATATGTATATGCATATGTGTGTATATATACATATATA TGTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTG TGTATATATACACATATACATGTATATGCATATGTGTGTATATATACACA TATACATGTATATGCATATGTGTGTATATATACACATATACATGTATATG CATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTATA TATACACATATACATGTATATGCATATGTGTGTATATATACACATATACA TGTATATGCATATGTGTGTATATATACACATATACATGTATATGCATATG TGTGTATATATACACATATACATGTATATGCATATGTGTGTATATATACA CATATACATGTATATGCATATGTGTGTATATATACACATATACATGTATA TGCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTA TATATACACATATACATGTATATGCATATGTGTGTATATATACACATATA CATGTATATGCATATGTGTGTATATATACACATATACATGTATATGCATA TGTGTGTATATATACACATATACATGTATATGCATATGTGTGTATATATA CACATATACATGTATATGCATATGTGTGTATATATACACATATATATGTG TGTGTATATATATGTGTGTGTATATATACACATATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(871): Show ATGTATATATATGTGTATATATGCATATATGTATATGCATATGTGTATAT ATGCATATATGTATATGCATATGTGTATATATGCATATATGCATATGCAT ATGTGTATATATGCATATATATGCATATGCATATGTGTGTATATATACAT ATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCAT ATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATAC ATATATATGCATATGCATATGTGTGTATATATACATGTATATGCATATGC ATATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATAT ACATATATATGCATATGCATATGTGTGTATATATACATATATATGTATAT GCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATATACATATACATGTATATGCATGTGTGTATAT ATACATATACATGTATATGCATATGTGTGTATATATACATATACATGTAT ATGCATATGTGTGTATATATACATATACATGTATATGCATATGTGTGTAT ATATACACATATACATGTATATGCATATGTGTGTATATATACACATATAC ATGTATATGCATATGTGTGTATATATACACATATACATGTATATGCATAT GTGTGTATACATATACATATATATGCATATATGTGTATACATATACATAT ATATGCATATATGTGTATATATACACATATATATGTGTGTGTATATATAT GTGTGTGTATATATACACATATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA19082.hp2 NA18965.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	2	456	0.0044	878	c.31 others(889): Show c.3116_*3117insTGTATATATATGTGTATATATGCATATATGTATA TGCATATGTGTATATATGCATATATGTATATGCATATGTGTATATATGCA TATATGCATATGCATATGTGTATATATGCATATATATGCATATGCATATG TGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACATA TATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATA TGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACA TGTATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCA TATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATA CATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATA TACATATATATGTATATGCATATGTGTGTATATATACATATACATGTATA TGCATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATATA TACATATACATGTATATGCATATGTGTGTATATATACATATACATGTATA TGCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTA TATATACACATATACATGTATATGCATATGTGTGTATATATACACATATA CATGTATATGCATATGTGTGTATACATATACATATATATGCATATATGTG TATACATATACATATATATGCATATATGTGTATATATACACATATATATG TGTGTGTATATATATGTGTGTGTATATATACACATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
PLEKHG4B_chr5_87168_194966	165942	C C	CCTCTGAT others(871): Show CCTCTGATGGGGTGGAGCTCACACTAATACTCTGACAGGGGGCGGAGCTC ACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCG GAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGAC GGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGC TCTGACGGGGCGGGGCTCACAGTAATCCTCTGATGGGGTGGGGCTCACAC TAATACTCTGACAGGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGG GCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGG GGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTC TGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTA ATGCTCTGATGGGGCGGAGCTCACACACTAATGCTCTGACGGGGCGGAGC TCACACTAATGCTGTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGG CGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTG ACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAAT GCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCAC ACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGTCG GAGCTCACACAGTAATGCTGTGACGGGGCAGAGCTCACACTAATGCTCTG ACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTACT CCTCTGACGGGGCGGAGCTCACACTAATG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0143 a0001c0007t0008g0145 a0001c0007t0008g0143 a0001c0007t0008g0145	2	210	0.0095	878	c.347 others(897): Show c.3476+2400_3476+2401insTGGGGTGGAGCTCACACTAATACTCT GACAGGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGT AATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCT CACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGC GGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGA TGGGGTGGGGCTCACACTAATACTCTGACAGGGGGCGGAGCTCACACTAA TGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCA CACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGG AGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGACG GGGCGGAGCTCACACTAATGCTCTGATGGGGCGGAGCTCACACACTAATG CTCTGACGGGGCGGAGCTCACACTAATGCTGTGACGGGGCGGGGCTCACA GTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGG CTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGG GCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCT GACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAA TGCTGTGACAGGGGTCGGAGCTCACACAGTAATGCTGTGACGGGGCAGAG CTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGG GCGGGGCTCACAGTACTCCTCTGACGGGGCGGAGCTCACACTAATGCTCT GA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(871): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATG ATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGGT GGTGATGATGGTGGTGGTGATGGTGGTGGTGATCATGGTGATGGTGATGA TGATGGTGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGGTGATG GTGATGGTGGTGATGATGGTGATGGTGATAATGATAGTGGTGATGATGGT GATGGTGGTGATGATGGTGATAATGATAGTGGTGATGGTGGTGATGATGG TGATGGTGATGATGGTGATGCTGGTGGTGATGGTGGTGATGATGGTGATG GTGATGATGATGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGAT GGTGGTGGTGGTGATGGTGATGATAATGATAGTGGTGATGATGGTGATGG TGGTGGTGATGGTGATGGTGATGATGGTGATGGTGATGGTGATGGTGGTG GTGGTGATGGTGGTGGTGATGATGGTGATGGTGAAGGTGTTGATGATGGT GATGGTGGTGGTGATGATGATGGTGGTGATGATGGTGATGGTGGTGATGA TGATGGTGATGATGGTGATGGTGATGATGGTGATAATGATAGTGGTGATG ATGGTGATGATGATAGTGATGATGATGGTGATGATGGTGATGGCGGCGAT GATGGTGATGATGATGGTGATGGTTGTGATGATGTTGGTGATGGTGGTGA TGATGATGGCATGATGGCAGTGATTCAAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0170 a0001c0001t0076g0170	1	210	0.0048	878	c.438 others(897): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGATGGTGGTGATGATGGTGATGGTGATG ATGGTGATGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGATGAT GGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGGTGATGGTGGTGGTGA TCATGGTGATGGTGATGATGATGGTGGTGGTGATGATGGTGGTGGTGATG ATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTGATAAT GATAGTGGTGATGATGGTGATGGTGGTGATGATGGTGATAATGATAGTGG TGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGCTGGTGGTGATG GTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTGATGATGGT GATGGTGATGATGGTGATGGTGGTGGTGGTGATGGTGATGATAATGATAG TGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGTGATGATGGTGATG GTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGT GAAGGTGTTGATGATGGTGATGGTGGTGGTGATGATGATGGTGGTGATGA TGGTGATGGTGGTGATGATGATGGTGATGATGGTGATGGTGATGATGGTG ATAATGATAGTGGTGATGATGGTGATGATGATAGTGATGATGATGGTGAT GATGGTGATGGCGGCGATGATGGTGATGATGATGGTGATGGTTGTGATGA TGTTGGTGATGGTGGTGATGATGATGGCATGATGGCAGTGATTCAAGTGA TG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABL6_chr9_136802948_136846187	136803080	G G	GGGGGCCC others(871): Show GGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AAGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0182 a0001c0005t0001g0182	1	330	0.0030	878	c.-51 others(889): Show c.-5117_-5116insGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAAGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4867		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803080	G G	GGGGGCCC others(871): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	330	0.0030	878	c.-51 others(889): Show c.-5117_-5116insGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCT	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4867		chr9	TogoVar
RASA3_chr13_113972783_114137623	114099698	G G	GCAGCCCC others(871): Show GCAGCCCCCCCGTAGCCCCCACCCCACAGCCCCCCACAGCCCCCCACACA GCCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCCACAGCCCCCA CAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCGTAGCCCCCACCCCAC AGCCCCCCCACAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCC CCCCACAGCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCCGTAGC CCCCACCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCC CCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCACAGCCCCCCACAG CCCCCCCACAGCCCCCACACAGCCCCCCACAGCCCCCCCACAGCCCCCAC AGCCCCCCCACAGCCCCCCCACAGCCCCCACACAGCCCCCCACAGCCCCC CACAGCCCCCACAGCAGCCCCCCGTAGCCCCCACCCCACAGCCCCCCCAC AGCCCCCACACAGCCCCCCACAGCCCCCCACAGCCCCCACAGCAGCCCCC CGTAGCCCCCACCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCCCAC AGCCCCCCCACAGCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCA CACAGCCCCCCACAGCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCC CCCCCACAGCAGCCCCCCGTAGCCCCCACCCCACAGCCCCCCCACAGCCC CCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCACA GCCCCCACAGCAGCCCCCCGTAGCCCCCACCCCACAGCCCCCCCACAGCC CCCACAGCAGCCCCCCCACAGCCCCCCCA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0016	1	67	0.0149	878	c.56- others(895): Show c.56-25862_56-25861insTGGGGGGGCTGTGGGGGGGCTGCTGTGG GGGCTGTGGGGGGGCTGTGGGGTGGGGGCTACGGGGGGCTGCTGTGGGGG CTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTG GGGGCTGTGGGGGGGCTGTGGGGTGGGGGCTACGGGGGGCTGCTGTGGGG GGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGCTGTGGGGGGCTGT GTGGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGC TGTGGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGTGGGGGCTAC GGGGGGCTGCTGTGGGGGCTGTGGGGGGCTGTGGGGGGCTGTGTGGGGGC TGTGGGGGGGCTGTGGGGTGGGGGCTACGGGGGGCTGCTGTGGGGGCTGT GGGGGGCTGTGGGGGGCTGTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGC TGTGGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGTGGGGGCTGTGGGGGG GCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTG GGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGTGGG GGCTACGGGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGGCTGTGGG GGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGC TGTGGGGTGGGGGCTACGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCT GTGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGGG CTGTGTGGGGGGCTGTGGGGGGCTGTGGGGTGGGGGCTACGGGGGGGCTG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
SCNN1D_chr1_1275436_1297025	1289035	C C	CCGTGTCT others(871): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCCC CGTCCCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0029 a0029	a0029c0025 a0029c0025	a0029c0025t0001 a0029c0025t0001	a0029c0025t0001g0256 a0029c0025t0001g0256	1	290	0.0035	878	c.166 others(896): Show c.1662+999_1662+1000insGTGTCTCTGCCCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCCCCGTCCCCCGTGTCCCTGCCCCGTCCCGTG TCTCTGCCCCGTCCCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTG CCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCC GTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTG CCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTG TCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTG TCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCC CCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCCCTGCCCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT C	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(871): Show CATATATATATATATTCCATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATTCCATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	324	0.0031	878	c.115 others(895): Show c.115-2588_115-2587insATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTAT others(871): Show CATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATGTAATATA TATTATATTTTATAATATATAATATATTATATTTTATAATATGTAATATA TATTATATTTTATAATATATAATATATATTATATATTATAATATATAATA TATATTATATATTATAATATATAATATATATTACATATTATAATATATAA TATATATTATATATTATAATATATAATATATATTACATATTATAATATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATTTTAT AAAATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATTTTATAATATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTTTATAATATATAATATA TTATATTTTATATTATATAAGATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATAATATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0096 a0001c0001t0005g0096	1	340	0.0029	878	c.17 others(897): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT TTTATAAAATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATATTATAATATGTAATATATATTATATATTATAATATATAATAT ATATTATATATTATAATATGTAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAATATATAATATATTATATATTATAATATATAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATATAAT AT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTAT others(871): Show CATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTTTATAATATATAATATA TTATATTTTATATTATATAAGATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATAATATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	340	0.0029	878	c.17 others(897): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT ATTATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTT TATATATATTATAAAATATAATATATTATATATTATAATATGTAATATAT ATTATATATTATAATATATAATATATATTATATATTATAATATGTAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATATAAT ATATATTATATATTATAAAATATAATATATATTACATATTATAAAATATA ATATATTATATATTATAAAATATAATATATATTACATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAATATATAATATATTATATATTATAATATATAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATATAAT AT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(871): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATATTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATGTAATATA TATTATATTTTATAATATATAATATATTATATTTTATAATATGTAATATA TATTATATTTTATAATATATAATATATATTATATATTATAATATATAATA TATATTATATATTATAATATATAATATATATTACATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTACATATTATAATATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATTTTAT AAAATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATTTTATAATATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTTTATAATATATAATATA TTATATTTTATATTATATAAGATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATAATATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	340	0.0029	878	c.17 others(897): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT TTTATAAAATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATATTATAATATGTAATATATATTATATATTATAATATGTAATAT ATATTATATATTATAATATGTAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAATATATAAT ATATTATATATTATAATATATAATATATTATATATTATAATATATAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATAAAAT AT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(871): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATATTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATGTAATATA TATTATATTTTATAATATATAATATATTATATTTTATAATATGTAATATA TATTATATTTTATAATATATAATATATATTATATATTATAATATATAATA TATATTATATATTATAATATATAATATATATTACATATTATAATATATAA TATATATTATATATTATAATATATAATATATATTACATATTATAATATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATTTTAT AAAATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATTTTATAATATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTTTATAATATATAATATA TTATATTTTATATTATATAAGATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATAATATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	340	0.0029	878	c.17 others(897): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT TTTATAAAATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATATTATAATATGTAATATATATTATATATTATAATATATAATAT ATATTATATATTATAATATGTAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAATATATAAT ATATTATATATTATAATATATAATATATTATATATTATAATATATAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATAAAAT AT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(871): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATGTAATATA TATTATATTTTATAATATATAATATATTATATTTTATAATATGTAATATA TATTATATTTTATAATATATAATATATATTATATATTATAATATATAATA TATATTACATATTATAATATATAATATATATTACATATTATAATATATAA TATATATTATATATTATAATATATAATATATATTACATATTATAATATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATTTTAT AAAATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATTTTATAATATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTTTATAATATATAATATA TTATATTTTATATTATATAAGATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATAATATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	340	0.0029	878	c.17 others(897): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT TTTATAAAATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATATTATAATATGTAATATATATTATATATTATAATATATAATAT ATATTATATATTATAATATGTAATATATATTATATATTATAATATGTAAT ATATATTATATATTATAATATATAATATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAATATATAATATATTATATATTATAATATATAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATAAAAT AT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(871): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATGTAATATA TATTATATTTTATAATATATAATATATTATATTTTATAATATGTAATATA TATTATATTTTATAATATATAATATATATTATATATTATAATATATAATA TATATTATATATTATAATATATAATATATATTACATATTATAATATATAA TATATATTATATATTATAATATATAATATATATTACATATTATAATATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATTTTAT AAAATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATTTTATAATATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTTTATAATATATAATATA TTATATTTTATATTATATAAGATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATAATATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0007g0123 a0001c0001t0007g0124	2	340	0.0059	878	c.17 others(897): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAAGATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT TTTATAAAATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATATTATAATATGTAATATATATTATATATTATAATATATAATAT ATATTATATATTATAATATGTAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAATATATAATATATTATATATTATAATATATAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATAAAAT AT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(871): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATAATATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0139 a0001c0001t0005g0139	1	340	0.0029	878	c.17 others(897): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATCTTATATAATATAAAATATAATATATTATATATTATAAAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT ATTATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTT TATATATATTATAAAATATAATATATTATATATTATAATATGTAATATAT ATTATATATTATAATATATAATATATATTATATATTATAATATGTAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATATAAT ATATATTATATATTATAAAATATAATATATATTACATATTATAAAATATA ATATATTATATATTATAAAATATAATATATATTACATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAATATATAATATATTATATATTATAATATATAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATAAAAT AT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(871): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTGCATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATTTTATAAAATATAATATATTATATATTATAAAA TATAATATCTTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATAATATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0119 a0001c0001t0007g0119	1	340	0.0029	878	c.17 others(897): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATCTTATATAATATAAAATATAATATATTATATATTATAAAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAAGATATT ATATTTTATAATATATAATATATTATATTTTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT ATTATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTT TATATATATTATAAAATATAATATATTATATATTATAATATGTAATATAT ATTATATATTATAATATATAATATATATTATATATTATAATATGCAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATATAAT ATATATTATATATTATAAAATATAATATATATTACATATTATAAAATATA ATATATTATATATTATAAAATATAATATATATTACATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAATATATAATATATTATATATTATAATATATAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATAAAAT AT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNTG2_chr2_945849_1372613	1221592	C C	CTCTGCCT others(871): Show CTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCT CTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCT GCCTCTGCCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTCTGTCT CTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTTGTCCCTCT CTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCC CTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGT CTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTGTGTCC CTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCATCTGCCT CTCTCTGTCTCTGTCTCTGCTTCTCTCTGTCTCTCTCTTTGTCCCTCTCT GTCTCTGTCTCTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGT CTCTCCCTGTCTCTGTCTCTCTGTCACTGTCTCTGCCTCTGTCTCTGCCT CTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTTTCAGT CTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGTCTCTCTGTCTCTGCCT CTCTCTGTCTCTGTCTGTGTCTCTGTCTCTGCCTATCTCTGTCTCTGTCT CTCTCTGTTTCTCTCTGTCTCTGTCTCTGTCTCTATCTCTGTCTCTGTCT CTCTCTGTCTCTGTCTGTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCT GTTTCTGTCTGTCTCTGTCTCTATCTCTGTCTCTGTCTCTCTCTGTCTCT GCCTATCTCTGTCTCTGTCTCTGTCTCTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18968.hp1 HG00438.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0123 a0001c0002t0001g0170 a0001c0001t0001g0123 a0001c0002t0001g0170	2	190	0.0105	878	c.719 others(897): Show c.719+12362_719+12363insTCTGCCTCTGTCTCTGCCTCTCTGTG TCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTT TGTCTCTGTCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTGCCTC TGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTGCC TCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTC TCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTC TCTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCC CCTCCCTCTGTCTCTCTGTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTC TCTCTCTGTCTCTGCATCTGCCTCTCTCTGTCTCTGTCTCTGCTTCTCTC TGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTAGCTC TGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCAC TGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTC TGTCTCTCTCTGTCCCTTTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTG TCTCTGTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTGTGTCTCTGTC TCTGCCTATCTCTGTCTCTGTCTCTCTCTGTTTCTCTCTGTCTCTGTCTC TGTCTCTATCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTGTGTCTCTCTC TGTCTCTGCCTATCTCTGTCTCTGTTTCTGTCTGTCTCTGTCTCTATCTC TGTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTCTCTGTCTC TG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SPIRE2_chr16_89823475_89876319	89852561	T T	TCCCTCTC others(871): Show TCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCAC CCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCA TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCATCTTCCGTCCTCCCTCTCAC CCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCATCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGGATCCCATGGCCCGTCTTCCGTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	356	0.0028	878	c.646 others(895): Show c.646-1724_646-1723insCCTCTCACCCCCCGGATCCCATGGCCCG TCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGGATCCCATGGCCCATCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCA TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCATCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852561	T T	TCCCTCTC others(871): Show TCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCAC CCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCA TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCATCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGGATCCCATGGCCCGTCTTCCGTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	356	0.0028	878	c.646 others(895): Show c.646-1724_646-1723insCCTCTCACCCCCCGGATCCCATGGCCCG TCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGGATCCCATGGCCCATCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCATCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(871): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGGAGGGAG GGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGG AGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAA GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGA GGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGG AGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAA GGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAG GGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGA AAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAA GGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGG AGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAG GAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGA AAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAA GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	322	0.0031	878	c.597 others(895): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCC TCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTC CTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCT CCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCC CTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TAFA5_chr22_48484553_48756932	48698689	G G	GGCCTGGG others(871): Show GGCCTGGGAGGGTTGTATGTGACCGGAAGCTTGAGTGAGTCTCCAGATGA TGCTGGGGTTTATAATGAGCACGGGACACCTGGGAACAAGGCAGGTCTCC CAGGCAATCATCAGGAACCACCTGGGCAGCGCTGGACCCCTGGTTCTACC TCAGGAATGAGAAGGGTGGAGGCGAGGAGGTCTCTTGGGAGGAAGATGTG CCAGGAGTGCCAGTAGGTCGGGCCTGGGAACTCGTGGAGGCTTCTCACAC CGGAGGATGCTGGATCTGCGCTGAGCACAGCAGGGTGGCTGTGGGGCCTG GCGGCTCCTGTGGAGGGAGCGACTCTGGACCTGGAGACAGGAGTGCCAGG CAGGTGGGCAGCAGGGAGACGTTGCATCCCAGGCTCCTGGGGCCCTGGGG GCCTTAGGAACGCTCTCCCAGGAGGGAGCATCAGGGCTGAGCAGCCTCCA GGCTTAGCGCAGTGCCCTATGAGACCTTCTCTCCTGCTCCACCCTGGCCC TGCCTGGGGTGAAGGAGACAGAGGCAGGGGACCAGGCCCTGCCCGGATGC CCAGCTACAGGCCAGAAGACAATGGCGCTCAGTCAGGTGCTACGTTTTCA TTACTGGGACCAGCATGTAATTACTGCATGAGGCTGCAGTGACCCAGGAG GTTCCCTTACCTCCGAGGGACTAAGATAGCTGGAGTTTGCTAGAATCCCC CAAGCCCAGCAGGGAGCTGCTTTTACCACTGAACAGGATCAAGGGACAGA GGGAGACTAAGTTACATCTTTAAGAAACCCCACACCGTGTGCTTCTCCAG ACACCTGCATCCAGACTCCTGTGTCTTAGGGCTGGGACCCAGCAGTGGGA CCCCAGAGGAGCTGATGCCCGCCTTGGCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp2 HG02723.hp1 others(8): Show HG02486.hp1 HG02622.hp2 HG02723.hp1 HG02809.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03225.hp2 HG03516.hp1 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0018	a0001c0001t0001g0012 a0001c0001t0002g0010 a0001c0001t0002g0017 others(8): Show a0001c0001t0001g0012 a0001c0001t0002g0010 a0001c0001t0002g0017 a0001c0001t0002g0035 a0001c0001t0002g0047 a0001c0001t0002g0164 a0001c0001t0002g0195 a0001c0001t0004g0016 a0001c0001t0004g0199 a0001c0001t0014g0145 a0001c0001t0018g0028	11	258	0.0426	878	c.263 others(895): Show c.263-9027_263-9026insCCTGGGAGGGTTGTATGTGACCGGAAGC TTGAGTGAGTCTCCAGATGATGCTGGGGTTTATAATGAGCACGGGACACC TGGGAACAAGGCAGGTCTCCCAGGCAATCATCAGGAACCACCTGGGCAGC GCTGGACCCCTGGTTCTACCTCAGGAATGAGAAGGGTGGAGGCGAGGAGG TCTCTTGGGAGGAAGATGTGCCAGGAGTGCCAGTAGGTCGGGCCTGGGAA CTCGTGGAGGCTTCTCACACCGGAGGATGCTGGATCTGCGCTGAGCACAG CAGGGTGGCTGTGGGGCCTGGCGGCTCCTGTGGAGGGAGCGACTCTGGAC CTGGAGACAGGAGTGCCAGGCAGGTGGGCAGCAGGGAGACGTTGCATCCC AGGCTCCTGGGGCCCTGGGGGCCTTAGGAACGCTCTCCCAGGAGGGAGCA TCAGGGCTGAGCAGCCTCCAGGCTTAGCGCAGTGCCCTATGAGACCTTCT CTCCTGCTCCACCCTGGCCCTGCCTGGGGTGAAGGAGACAGAGGCAGGGG ACCAGGCCCTGCCCGGATGCCCAGCTACAGGCCAGAAGACAATGGCGCTC AGTCAGGTGCTACGTTTTCATTACTGGGACCAGCATGTAATTACTGCATG AGGCTGCAGTGACCCAGGAGGTTCCCTTACCTCCGAGGGACTAAGATAGC TGGAGTTTGCTAGAATCCCCCAAGCCCAGCAGGGAGCTGCTTTTACCACT GAACAGGATCAAGGGACAGAGGGAGACTAAGTTACATCTTTAAGAAACCC CACACCGTGTGCTTCTCCAGACACCTGCATCCAGACTCCTGTGTCTTAGG GCTGGGACCCAGCAGTGGGACCCCAGAGGAGCTGATGCCCGCCTTGGCTG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar

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Search Results (Total: 7053 hits)