Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PRDM16_chr1_3064203_3443621	3212653	C C	CGGTCCTC others(553): Show CGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCA TCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCT CGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCC GCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGC CCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTC CTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTC CCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTG CGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCA TCCTCCCGGCCCCCTCGCTGCCGTCCTCCCGCTCATCCTACCGGCCCCCT CGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCCGTCCTCCC GCTCATCCTACCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGC CCCCTCGCTGT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0029 a0001c0004t0029	a0001c0004t0029g0044 a0001c0004t0029g0044	1	210	0.0048	560	c.387 others(579): Show c.387+26221_387+26222insCCGCTCATCCTCCCGGCCCCCTCGCT GCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTC ATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCC TCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCC CGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGG CCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGT CCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCT CCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCT GCCGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGCGGTCCTCCCGCTC ATCCTCCCGGCCCCCTCGCTGCCGTCCTCCCGCTCATCCTACCGGCCCCC TCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGTGGTCCTCC CGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRIMA1_chr14_93713298_93793485	93722010	G G	GTGGTGAT others(553): Show GTGGTGATGCTGGTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTGGTG GTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGG TGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGC TGGTGGTAATGGGGTGGTGGTGGTAATGGTGATGCTGGTGGTAATGGGGT GGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGT GATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAAT GGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTA ATGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTG GTAATGGGGTGGTGGTGCTAGTGGTGATGCTGGTGGTAATGGGGTGGTGG TGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGC TGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGT GGTGGTGGTAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0310 a0001c0004t0001g0310	1	397	0.0025	560	c.360 others(575): Show c.360-465_360-464insTTACCACCACCACCCCATTACCACCAGCAT CACCACTACCACCACCACCCCATTACCACCAGCATCACCACTACCACCAC CACCCCATTACCACCAGCATCACCACTACCACCACCACCCCATTACCACC AGCATCACCACTAGCACCACCACCCCATTACCACCAGCATCACCACTACC ACCACCACCCCATTACCACCAGCATCACCATTACCACCACCACCCCATTA CCACCAGCATCACCACTACCACCACCACCCCATTACCACCAGCATCACCA CTACCACCACCACCCCATTACCACCAGCATCACCACTACCACCACCACCC CATTACCACCAGCATCACCACTACCACCACCACCCCATTACCACCAGCAT CACCATTACCACCACCACCCCATTACCACCAGCATCACCACTACCACCAC CACCCCATTACCACCAGCATCACCACTACCACCACCACCCCATTACCACC AGCATCACCACTACCACCACCACCCCATTACCACCAGCATCACCACTACC ACCATCACCCCATTACCACCAGCATCACCA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRKN_chr6_161342417_162732766	162450316	C C	CGTGAATG others(553): Show CGTGAATGTAAACGCCCCTGTGATTGTAATCCCCCTGTGAATGTAAACGC CCCTGTGATTGTAATCCCCCTGTGAATGTAAACGCCCCTGTGATTGTAAT CCCCCTGTGAATGTAAACGCCCCTGTGATTGTAATCCCCCTGTGAATGTA AACGCCCCTATGATTGTAACACCCCTGTGAATGTAAACGCCCCTGTGATT GTAATCCCCCTGTGAATGTAAACGCCCCTGTGATTGTAATCCCCCTGTGA ATGTAAACGCCCCTGTGATTGTAATCCCCCTGTGAATGTAAACGCCCCTG TGATTGTAATCCCCCTGTGAATGTAAACGCCCCTGTGATTGTAATCCCCC TGTGAATGTAAACGCCCCTGTGATTGTAATCCCCCTGTGAATGTAAACGC CCCTGTGATTGTAATCCCCCTGTGAATGTAAACGCCCCTGTGATTGTAAT CCCCCTGTGAATGTAAACGCCCCTATGATTGTAACACCCCTGTGAATGTA AACGCCCCTGTGATTGTAATCCCCCTGTGAATGTAAACGCCCCTGTGATT GTAATCCCCCT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	1	32	0.0313	560	c.8-6 others(573): Show c.8-6844_8-6843insAGGGGGATTACAATCACAGGGGCGTTTACATT CACAGGGGGATTACAATCACAGGGGCGTTTACATTCACAGGGGTGTTACA ATCATAGGGGCGTTTACATTCACAGGGGGATTACAATCACAGGGGCGTTT ACATTCACAGGGGGATTACAATCACAGGGGCGTTTACATTCACAGGGGGA TTACAATCACAGGGGCGTTTACATTCACAGGGGGATTACAATCACAGGGG CGTTTACATTCACAGGGGGATTACAATCACAGGGGCGTTTACATTCACAG GGGGATTACAATCACAGGGGCGTTTACATTCACAGGGGGATTACAATCAC AGGGGCGTTTACATTCACAGGGGGATTACAATCACAGGGGCGTTTACATT CACAGGGGTGTTACAATCATAGGGGCGTTTACATTCACAGGGGGATTACA ATCACAGGGGCGTTTACATTCACAGGGGGATTACAATCACAGGGGCGTTT ACATTCACAGGGGGATTACAATCACAGGGGCGTTTACATTCACAGGGGGA TTACAATCACAGGGGCGTTTACATTCAC	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(553): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCCTCTCCACCTTCCCTG TCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCC CCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCA CCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTC CCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	227	0.0044	560	c.23 others(571): Show c.2397_*2398insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCC TCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCC ACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTT CCCTGTCTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
RASA3_chr13_113972783_114137623	114099909	A A	ACAGCAGC others(553): Show ACAGCAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCCA CAGCCCCCCCACAGCCCCCACAGCCCCCCACAGCCCCCCACAGCAGCCCC CCCACAGCCCCCCCACAGCCCCCACAGCCCCCCACAGCCCCCCACAGCAG CCCCCCCACAGCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCC CGCAGCCCCCCCACAGCCCCCACAGCCCCCCACAGCCCCCCACAGCAGCC CCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCACAGCCCCCCAC AGCAGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCCCCCCACAGCCCC CCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCACAGCAGCCCCCCCA CAGCCCCCCCGCAGCCCCCCCGCAGCCCCCCACAGCCCCCCCACAGCCCC CCACAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCCAC AGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCC CCCCACAGCCC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0022	1	67	0.0149	560	c.56- others(577): Show c.56-26073_56-26072insGGGCTGTGGGGGGGCTGTGGGGGGGCTG TGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGG GGGCTGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCT GTGGGGGGCTGCGGGGGGGCTGCGGGGGGGCTGTGGGGGGGCTGCTGTGG GGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGCTG TGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGG GCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCT GTGGGGGGCTGTGGGGGCTGTGGGGGGGCTGCGGGGGGGCTGTGGGGGGG CTGCTGTGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGT GGGGGGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGG CTGTGGGGGGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGG GGCTGCTGTGGGGGGCTGTGGGGGGGCTGCTG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79555282	A A	AGTGGTGG others(553): Show AGTGGTGGTGATGGTGGTGATGATGGTGGTGGTATTGATGGAGATGATGA TGACAGTGATAATGGTGGTGGTGGTAATGGTGATTATATGTCAGTGATGG TGGTGGTGGTGGTGATGGTGATGATAGTCATGATGGTGGTGATAGTGATG GCAATGGTGATGATGGCAGTGATGGTGATTATGAGAGTAGTGATGGTGGT GATGGCGATGGTAATGGTGATAATGGCGATGATGGTGGTGATGGTGATGA TGATAGTAATGATGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATA ATAGTGATAATGGTGGTGACGGCAGTGGTGGTGGTGGTAATGGTGATCAT GTCAGTGATGGTGGTGGTGGTGATGATAGTAATGATGGTGGTGATGGTGG TGGCAATGGTGATGATGGCAGTGATGGCGGTGAGGGTGATTATGATAGTA GTGATGGTGATGGCAATGGTAATGGTGATAATGGCGATGATGGTGGTGAT GGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGACGG CAGTGGTGGTG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0136 a0001c0001t0028g0136	1	154	0.0065	560	c.-32 others(581): Show c.-320+55543_-320+55544insCACCACCACTGCCGTCACCACCAT TATCACTATTATCACCACCGTTACCACCACCACTGCCATCACCACCATCA TCGCCATTATCACCATTACCATTGCCATCACCATCACTACTATCATAATC ACCCTCACCGCCATCACTGCCATCATCACCATTGCCACCACCATCACCAC CATCATTACTATCATCACCACCACCACCATCACTGACATGATCACCATTA CCACCACCACCACTGCCGTCACCACCATTATCACTATTATCACCACCGTT ACCACCACCACTGCCATCACCACCATCATTACTATCATCATCACCATCAC CACCATCATCGCCATTATCACCATTACCATCGCCATCACCACCATCACTA CTCTCATAATCACCATCACTGCCATCATCACCATTGCCATCACTATCACC ACCATCATGACTATCATCACCATCACCACCACCACCACCATCACTGACAT ATAATCACCATTACCACCACCACCATTATCACTGTCATCATCATCTCCAT CAATACCACCACCATCATCACCACCATCACCACCAC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79555282	A A	AGTGGTGG others(553): Show AGTGGTGGTGATGGTGGTGATGATGGTGGTGGTATTGATGGAGATGATGA TGACAGTGATAATGGTGGTGGTGGTAATGGTGATTATATGTCAGTGATGG TGGTGGTGGTGGTGATGGTGATGATAGTCATGATGGTGGTGATAGTGATG GCAATGGTGATGATGGCAGTGATGGTGATTATGAGAGTAGTGATGGTGGT GATGGCGATGGTAATGGTGATAATGGCGATGATGGTGGTGATGGTGATGA TGATAGTAATGATGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATA ATAGTGATAATGGTGGTGACGGCAGTGGTGGTGGTGGTAATGGTGATCAT GTCAGTGATGGTGGTGGTGGTGATGATAGTAATGATGGTGGTGATGGTGG TGGCAATGGTGATGATGGCAGTGATGGCGGTGAGGGTGATTATGATAGTA GTGATGGTGATGGCAATGGTAATGGTGATAATGGCGATGATGGTGGTGAT GGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGATGA TGGTAGTTGTG	intron_variant intron_variant	MODIFIER	NA19085.hp2 homoSapiens_chm13v2.hp1 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0003 a0001c0001t0007 a0001c0002t0003	a0001c0001t0007g0021 a0001c0002t0003g0073 a0001c0001t0007g0021 a0001c0002t0003g0073	2	154	0.0130	560	c.-32 others(581): Show c.-320+55543_-320+55544insCACAACTACCATCATCACCACCAT TATCACTATTATCACCACCGTTACCACCACCACTGCCATCACCACCATCA TCGCCATTATCACCATTACCATTGCCATCACCATCACTACTATCATAATC ACCCTCACCGCCATCACTGCCATCATCACCATTGCCACCACCATCACCAC CATCATTACTATCATCACCACCACCACCATCACTGACATGATCACCATTA CCACCACCACCACTGCCGTCACCACCATTATCACTATTATCACCACCGTT ACCACCACCACTGCCATCACCACCATCATTACTATCATCATCACCATCAC CACCATCATCGCCATTATCACCATTACCATCGCCATCACCACCATCACTA CTCTCATAATCACCATCACTGCCATCATCACCATTGCCATCACTATCACC ACCATCATGACTATCATCACCATCACCACCACCACCACCATCACTGACAT ATAATCACCATTACCACCACCACCATTATCACTGTCATCATCATCTCCAT CAATACCACCACCATCATCACCACCATCACCACCAC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RGS12_chr4_3288021_3444913	3341502	G G	GGGCGGAG others(553): Show GGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTG GAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGG GGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACA AGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTG GGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAG AGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAG GGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGG GGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGG GTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGT GGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGA GATGGGGGTGT	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18939.hp2 HG01978.hp2 NA18939.hp2	a0002 a0013 a0002 a0013	a0002c0029 a0013c0045 a0002c0029 a0013c0045	a0002c0029t0001 a0013c0045t0001 a0002c0029t0001 a0013c0045t0001	a0002c0029t0001g0162 a0013c0045t0001g0166 a0002c0029t0001g0162 a0013c0045t0001g0166	2	312	0.0064	560	c.188 others(579): Show c.1882-1434_1882-1433insGCGGAGGGGAGGGTGGAGAGATGGGG GTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTG GAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGG GGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAG ATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGG AGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGG TGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGT GGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGG GGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGT TGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGG GAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGT GTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF17_chr13_24759169_24884921	24882188	A A	ATATATAG others(553): Show ATATATAGATACATCTATATAGATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATGTAGATACATCTAT ATATAGATACATCTATATGTAGATACATCTATATGTAGATACATCTATAT GTAGATACATCTATATGTAGATACATCTATATGTAGATACATCTATATAT AGATACATCTATATAGATATATAGATACATCTATATATAGATACATCTAT ATAGATATATAGATACATCTATATAGATATATAGATACATCTATATAGAT ATATAGATACATCTATATAGATATATAGATACATCTATATAGATACATCT ATATAGATACATCTATATAGATACATCTATATAGATACATCTATATAGAT ACATCTATATAGATACATCTATATAGATACATCTATATAGATACATCTAT ATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0021 a0003c0007t0001g0021	1	426	0.0024	560	c.24 others(571): Show c.2462_*2463insTATATAGATACATCTATATAGATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TGTAGATACATCTATATATAGATACATCTATATGTAGATACATCTATATG TAGATACATCTATATGTAGATACATCTATATGTAGATACATCTATATGTA GATACATCTATATATAGATACATCTATATAGATATATAGATACATCTATA TATAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGA TACATCTATATAGATATATAGATACATCTATATAGATATATAGATACATC TATATAGATACATCTATATAGATACATCTATATAGATACATCTATATAGA TACATCTATATAGATACATCTATATAGATACATCTATATAGATACATCTA TATAGATACATCTATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2268		chr13	TogoVar
RPH3AL_chr17_207389_357807	273247	A A	AGAGACCC others(553): Show AGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACG TCAGGGAGAGACCCCAGCGCGGGTGACTTCAGGGAGAGACCCCAGCGAGG GTGACTTCAGGGAGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCA GCGAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAG ACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCGAGGGCGACGTCAG GGAGAGACCCCAGCAAGGGTGATGTCAGGGAGAGACCCCAGCGAGGGCGA CGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGC GGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCC CAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGTGATGTCAGGGAG AGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTC AGGGAGAGACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCGAGGGT GACTTCAGGGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	133	0.0075	560	c.438 others(577): Show c.438+8520_438+8521insACCCTGAAGTCACCCTCGCTGGGGTCTC ACCCTGAAGTCACCCGCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGG GGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACATCACCCT TGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCACCCTGAAGT CACCCTCGCTGGGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTCTCCC TGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTC TCTCCCTGACATCACCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCT GGGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTCTCCCTGACGTCACC CTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAA GTCACCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCTGGGGTCTCTC CCTGAAGTCACCCGCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGG TCTCTCCCTGACGTCGCCCTCGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273264	T T	TGACGTCA others(553): Show TGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAG CGAGGGCGACGTCAGGAAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGA CCCCAGCGAGGGCGACGTCAGGAAGAGACCCCAGCGAGGGCGACGTCAGG GAGAGACCCCAGCGCGGGTGACTTCAGGGAGAGACCCCAGCGAGGGCGAC GTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAG GGCGACGTCAGGGAGAGACCCCAGCGCGGGTGACTTCAGGGAGAGACCCC AGCGAGGGCGACGTCAGGGAGAGACCCCAGCGCGGGTGACTTCAGGGAGA GACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACTTCA GGGAGAGACCCCAGCGAGGGCTACGTCAGGGAGAGACCCCAGCGAGGGTG ACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGAAGAGACCCCAGCG AGGGTGACGTCAGGGAGAGACCCCAGCGCGGGTGACTTCAGGGAGAGACC CCAGCGAGGGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0005 a0003c0012t0005	a0003c0012t0005g0020 a0003c0012t0005g0020	1	133	0.0075	560	c.438 others(577): Show c.438+8503_438+8504insGCCCTCGCTGGGGTCTCTCCCTGAAGTC ACCCGCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTTCCT GACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCT CTCCCTGACGTAGCCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCTG GGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGAAGTCACCC GCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGAAG TCACCCGCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCC CTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGT CTCTCCCTGAAGTCACCCGCGCTGGGGTCTCTCCCTGACGTCGCCCTCGC TGGGGTCTCTTCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCAC CCTCGCTGGGGTCTCTTCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGA CGTCGCCCTCGCTGGGGTCTCTCCCTGACGTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(553): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATGTT TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAAC	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	276	0.0036	560	c.494 others(579): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATGTTTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTG TATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACA TACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAA CACACATACGTGTATATGTGTATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SAMD11_chr1_918923_949574	934209	A A	AGGCGGCT others(553): Show AGGCGGCTGCGTTACTGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCT CCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCG GGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGG TGGGCGGGGGG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	434	0.0023	560	c.843 others(577): Show c.843-1556_843-1555insGCGTTACTGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCC GTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGC TGCTCCGTTACAGGTGGGCGGGGGGGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934573	A A	AGGCGGCT others(553): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGG CGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACA GGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTA CAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCT CCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAG GCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0187 a0001c0001t0003g0187	1	434	0.0023	560	c.843 others(577): Show c.843-1196_843-1195insGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGG GGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTG GGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGT TACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934581	C C	CCGTTACA others(553): Show CCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCA GGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGG TGGGCAGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGT TACAGGTGGGCAGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGG CTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACA GGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGGGGCGGCTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0019 a0019	a0019c0041 a0019c0041	a0019c0041t0003 a0019c0041t0003	a0019c0041t0003g0160 a0019c0041t0003g0160	1	434	0.0023	560	c.843 others(577): Show c.843-1172_843-1171insAGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGG CAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACA GGTGGGCAGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCC GTTACAGGTGGGCAGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGC GGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTA CAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCT CCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133668620	C C	CATCTCCC others(553): Show CATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTC CCTCTCCCTCACCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCC TCTCCCTCATCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCT CTTCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCTCTCCCCTACCC TCCCCTCTCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTC CCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCACCCTCCC TCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTC TCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCTCTC CCTACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCT CTCCTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCAC CCTCCATCTCCCTCACCCCCTCTCCCCTTACCCTCCCTCTCCTCACCTTC CCTCTCCCTTA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0224 a0002c0002t0004g0224	1	262	0.0038	560	c.249 others(579): Show c.2496-1751_2496-1750insTAAGGGAGAGGGAAGGTGAGGAGAGG GAGGGTAAGGGGAGAGGGGGTGAGGGAGATGGAGGGTGAGGGAGAGGGAA GGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAGGAGAGAGAGAGGGAGGGT GAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTAGGGAGAGGGAGGGTGAG GGAGATGGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGAGGG AGAGGGAGGGTAAGGGAGAGGGAAGGAGAGAGAGAGGGAGGGTGAGAGAG AGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAT GGAGGGTGAGGGAGAGGGAGGGTGAGGAGAGGGGAGGGTAGGGGAGAGGG AAGGTGAGGGAGAGGGAGGGGGAGGGTAAGGGAAGAGGGAGGGTAAGGGG AGAGGGAGGGTGAGGGAGAGGGAGGATGAGGGAGAGGGAGGGTGAGGGAG AGGGAGGGTGAGGGGAGAGGGAGGTGAGGGAGAGGGAGGGTGAGGGGAGA GGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGAT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SH3BP5_chr3_15249353_15337586	15272534	C C	CATTACAA others(553): Show CATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGC CCGTAGGATAAAGACATATTACAAAACAGAGTGCCTGTAGGATAAAGACA TATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGC CCGTAGGATAAAGACATATTACAAAACAGAGTGCCTGTAGGATAAAGACA TATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGC CCGTAGGATAAAGACATATTACAAAACAGAGTGCCTGTAGGATAAAGACA TTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCC GTAGGATAAAGACATATTACAAAACAGAGTGCCTGTAGGATAAAGACATT ACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGT AGGATAAAGACATTACAAAACAGAGTGCCCGTAGGATAAAGACATATTAC AAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAG GATAAAGACAT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	376	0.0027	560	c.331 others(577): Show c.331-2658_331-2657insATGTCTTTATCCTACAGGCACTCTGTTT TGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATATGTCTTTATCC TACGGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTG TAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACA GGCACTCTGTTTTGTAATATGTCTTTATCCTACGGGCACTCTGTTTTGTA ATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGG CACTCTGTTTTGTAATATGTCTTTATCCTACGGGCACTCTGTTTTGTAAT GTCTTTATCCTACAGGCACTCTGTTTTGTAATATGTCTTTATCCTACAGG CACTCTGTTTTGTAATATGTCTTTATCCTACGGGCACTCTGTTTTGTAAT GTCTTTATCCTACAGGCACTCTGTTTTGTAATATGTCTTTATCCTACAGG CACTCTGTTTTGTAATATGTCTTTATCCTACGGGCACTCTGTTTTGTAAT GTCTTTATCCTACAGGCACTCTGTTTTGTAAT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SLC12A7_chr5_1045384_1117063	1099388	A A	AGCAGGGC others(553): Show AGCAGGGCCCGACCCGGTCCACCTCCTCTGGGGCACGGACATCAACCCAG CCCCGACCCAGTCCACCTCCTCCGGGGGACAGCAGGGCCCGACCCGGTCC ACCTCCTCTGGGGCACGGACATCAACCCAGCCCCGACCCAGTCCACCTCC TCCGGGGGACGGCAGGGCCCGACCCGGTCCACCTCCTCTGGGGCACGGAC ATCAACCCAGCCCCGACCCAGTCCACCTCCTCCGGGGGACGGCAGGGCCC GACCCGGTCCACCTCCTCTGGGGCACGGACATCAACCCAGCCCCGAGCCA GTCCACCTCCTCCGGGGGACGGCAGGGCCCGACCCGGTCCACCTCCTCTG GGGCACGGACATCAACCCAGCCCCGAGCCAGTCCACCTCCTCCGGGGGAC GGCAGGGCCCGACCCGGTCCACCTCCTCTGGGGCACGGACATCAACCCAG CCCCGACCCAGTCCACCTCCTCCGGGGGACGGCAGGGCCCGACCCGGTCC ACCTCCTCTGGGGCACGGACATCAACCCAGCCCCGACCCAGTCCACCTCC TCCGGGGGACG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	118	0.0085	560	c.125 others(577): Show c.125-5141_125-5140insCGTCCCCCGGAGGAGGTGGACTGGGTCG GGGCTGGGTTGATGTCCGTGCCCCAGAGGAGGTGGACCGGGTCGGGCCCT GCCGTCCCCCGGAGGAGGTGGACTGGGTCGGGGCTGGGTTGATGTCCGTG CCCCAGAGGAGGTGGACCGGGTCGGGCCCTGCCGTCCCCCGGAGGAGGTG GACTGGCTCGGGGCTGGGTTGATGTCCGTGCCCCAGAGGAGGTGGACCGG GTCGGGCCCTGCCGTCCCCCGGAGGAGGTGGACTGGCTCGGGGCTGGGTT GATGTCCGTGCCCCAGAGGAGGTGGACCGGGTCGGGCCCTGCCGTCCCCC GGAGGAGGTGGACTGGGTCGGGGCTGGGTTGATGTCCGTGCCCCAGAGGA GGTGGACCGGGTCGGGCCCTGCCGTCCCCCGGAGGAGGTGGACTGGGTCG GGGCTGGGTTGATGTCCGTGCCCCAGAGGAGGTGGACCGGGTCGGGCCCT GCTGTCCCCCGGAGGAGGTGGACTGGGTCGGGGCTGGGTTGATGTCCGTG CCCCAGAGGAGGTGGACCGGGTCGGGCCCTGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1099388	A A	AGCAGGGC others(553): Show AGCAGGGCCCGACCCGGTCCACCTCCTCTGGGGCACGGACATCAACCCAG CCCCGACCCAGTCCACCTCCTCCGGGGGACGGCAGGGCCCGACCCGGTCC ACCTCCTCTGGGGCACGGACATCAACCCAGCCCCGACCCAGTCCACCTCC TCCGGGGGACGGCAGGGCCCGACCCGGTCCACCTCCTCTGGGGCACGGAC ATCAACCCAGCCCCGACCCAGTCCACCTCCTCCGGGGGACGGCAGGGCCC GACCCGGTCCACCTCCTCTGGGGCACGGACATCAACCCAGCCCCGACCCA GTCCACCTCCTCCGGGGGACGGCAGGGCCCGACCCGGTCCACCTCCTCTG GGGCACGGACATCAACCCAGCCCCGAGCCAGTCCACCTCCTCCGGGGGAC GGCAGGGCCCGACCCGGTCCACCTCCTCTGGGGCACGGACATCAACCCAG CCCCGACCCAGTCCACCTCCTCCGGGGGACGGCAGGGCCCGACCCGGTCC ACCTCCTCTGGGGCACGGACATCAACCCAGCCCCGACCCAGTCCACCTCC TCCGGGGGACG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0064 a0001c0009t0006g0064	1	118	0.0085	560	c.125 others(577): Show c.125-5141_125-5140insCGTCCCCCGGAGGAGGTGGACTGGGTCG GGGCTGGGTTGATGTCCGTGCCCCAGAGGAGGTGGACCGGGTCGGGCCCT GCCGTCCCCCGGAGGAGGTGGACTGGGTCGGGGCTGGGTTGATGTCCGTG CCCCAGAGGAGGTGGACCGGGTCGGGCCCTGCCGTCCCCCGGAGGAGGTG GACTGGCTCGGGGCTGGGTTGATGTCCGTGCCCCAGAGGAGGTGGACCGG GTCGGGCCCTGCCGTCCCCCGGAGGAGGTGGACTGGGTCGGGGCTGGGTT GATGTCCGTGCCCCAGAGGAGGTGGACCGGGTCGGGCCCTGCCGTCCCCC GGAGGAGGTGGACTGGGTCGGGGCTGGGTTGATGTCCGTGCCCCAGAGGA GGTGGACCGGGTCGGGCCCTGCCGTCCCCCGGAGGAGGTGGACTGGGTCG GGGCTGGGTTGATGTCCGTGCCCCAGAGGAGGTGGACCGGGTCGGGCCCT GCCGTCCCCCGGAGGAGGTGGACTGGGTCGGGGCTGGGTTGATGTCCGTG CCCCAGAGGAGGTGGACCGGGTCGGGCCCTGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AAATATAA others(553): Show AAATATAAATATATTATATATTATATATAAATATAAATATATTATATATA TTATATATAAATATAAATATATTATATATATTATATATAAATATAAATAT ATTATATATATTATATATAAATATAAATATATTATATATATTATATATAA TATAAATATATTATATATATTATATATAATATAAATATATTATATATATT ATATATAATATAAATATATTATATATATTATATATAAATATAAATATATT ATATATATTATATATAAATATAAATATATTATATATATTATATATAAATA TAAATATATTATATATATTATATATAAATATAAATATATTATATATATTA TATATAAATATAAATATATTATATATATTATATATAATATAAATATATTA TATATATTATATATAATATAAATATATTTATATATTATATATAATATAAA TATATTTATATATTATATATAAATATAAATATATTATATATATTATATAT AAAATATAAATATATTATATATATTATATATAAATATAAATATATTATAT ATATTATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0113 a0002c0002t0001g0113	1	346	0.0029	560	c.-70 others(577): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TTATATATAATATATATAATATATTTATATTTTATATATAATATATATAA TATATTTATATTTATATATAATATATAAATATATTTATATTATATATAAT ATATAAATATATTTATATTATATATAATATATATAATATATTTATATTAT ATATAATATATATAATATATTTATATTTATATATAATATATATAATATAT TTATATTTATATATAATATATATAATATATTTATATTTATATATAATATA TATAATATATTTATATTTATATATAATATATATAATATATTTATATTTAT ATATAATATATATAATATATTTATATTATATATAATATATATAATATATT TATATTATATATAATATATATAATATATTTATATTATATATAATATATAT AATATATTTATATTTATATATAATATATATAATATATTTATATTTATATA TAATATATATAATATATTTATATTTATATATAATATATATAATATATTTA TATTTATATATAATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AAATATAA others(553): Show AAATATAAATATATTATATATTATATATAAATATAAATATATTATATATA TTATATATAAATATAAATATATTATATATATTATATATAATATAAATATA TTATATATATTATATATAATATAAATATATTATATATATTATATATAATA TAAATATATTATATATATTATATATAAATATAAATATATTATATATATTA TATATAAATATAAATATATTATATATATTATATATAAATATAAATATATT ATATATATTATATATAAATATAAATATATTATATATATTATATATAAATA TAAATATATTATATATATTATATATAAATATAAATATATTATATATATTA TATATAAATATAAATATATTATATATATTATATATAATATAAATATATTA TATATATTATATATAATATAAATATATTTATATATTATATATAATATAAA TATATTTATATATTATATATAAATATAAATATATTATATATATTATATAT AAAATATAAATATATTATATATATTATATATAAATATAAATATATTATAT ATATTATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0101	1	346	0.0029	560	c.-70 others(577): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TTATATATAATATATATAATATATTTATATTTTATATATAATATATATAA TATATTTATATTTATATATAATATATAAATATATTTATATTATATATAAT ATATAAATATATTTATATTATATATAATATATATAATATATTTATATTAT ATATAATATATATAATATATTTATATTTATATATAATATATATAATATAT TTATATTTATATATAATATATATAATATATTTATATTTATATATAATATA TATAATATATTTATATTTATATATAATATATATAATATATTTATATTTAT ATATAATATATATAATATATTTATATTTATATATAATATATATAATATAT TTATATTTATATATAATATATATAATATATTTATATTATATATAATATAT ATAATATATTTATATTATATATAATATATATAATATATTTATATTATATA TAATATATATAATATATTTATATTTATATATAATATATATAATATATTTA TATTTATATATAATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(553): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATATAGTATATATTATATATTGTATATAATATATATAGTATAT ATTATATATTGTATATAATATATATAGTATATATTATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATATTGTATATATTATATATTGTATATATAATA TATATATTGTATATATTATATATTGTATATATAATATATATATTGTATAT ATTATATATTGTATATATAATATATATATTGTATATATTATATATTGTAT ATATAATATATATAGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0089 a0001c0006t0002g0089	1	156	0.0064	560	c.176 others(577): Show c.176-5096_176-5095insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACTATATATATTATATATACAATATATAATATA TACAATATATATATTATATATACAATATATAATATATACAATATATATAT TATATATACAATATATAATATATACAATATATATATTATATATACAATAT ATAATATATACAATATATATATTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAA TATATACTATATATATTATATACAATATATAATATATACTATATATATTA TATACAATATATAATATATACTATATATATTATATATACAATATAAAATA TATATAATATATATTAGATATACAATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75280139	T T	TATATATT others(553): Show TATATATTGTATATCTAATATATATTATATATATTTTATATTGTATATAT AATATATATAGTATATATTATATATTGTATATAATATATATAGTATATAT TATATATTGTATATAATATATATAGTATATATTATATATTGTATATATTA TATATTGTATATATAATATATATATTGTATATATTATATATTGTATATAT AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATAATATA TATATTGTATATATTATATATTGTATATATAATATATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	156	0.0064	560	c.176 others(577): Show c.176-5098_176-5097insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATATTATATATACAAT ATATAATATATACAATATATATATTATATATACAATATATAATATATACA ATATATATATTATATATACAATATATAATATATACAATATATATATTATA TATACAATATATAATATATACAATATATATATTATATATACAATATATAA TATATACAATATATATATTATATATACAATATATAATATATACAATATAT AATATATACTATATATATTATATACAATATATAATATATACTATATATAT TATATACAATATATAATATATACTATATATATTATATATACAATATAAAA TATATATAATATATATTAGATATACAATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLX9_chr21_44935029_44981973	44973444	A A	ACCCCGCC others(553): Show ACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGC CCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCT CTCCAGGGATTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGG GGTTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGGATTCAG CTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTAT GTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTATGTGCCCT CACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCG CCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCCCACCC TCTCCAGGGATTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAG GGGTTCAGCTCCTGAGTGCCCTCACCCTGCCCACCCTCTCCAGGGGTTCA GCTCCTATGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTA TGTGCCCTCAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0217 a0003c0003t0001g0217	1	334	0.0030	560	c.569 others(575): Show c.569+243_569+244insGTTCAGCTCCTGAGTGCCCTCACCCCGCCC ACCCTCTCCAGGGATTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCT CCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGGA TTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCT CCTATGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTATGT GCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCA CCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCC CACCCTCTCCAGGGATTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTC TCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCTGCCCACCCTCTCCAGGG GTTCAGCTCCTATGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGC TCCTATGTGCCCTCACCCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGA GTGCCCTCACCCCGCCCACCCTCTCCAGGG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATTATA others(553): Show ATATTATATTTTATATTATAATATATAATATATATTATATATTATATTAT AATATATAATATAATATATATTATATTTTATGATATATAATATACATTAT ATTTTATGATATATAATATACATTATATTTTATGATATATAATATACATT ATATTTTATGATATATAATATACATTATATTTTATGATATATAATATACA TTATATTTTATGATATATAATATACATTATATTTTATGATATATAATATA CATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATA TACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAA TATACATTATATTTTATGATATATAATATACATTATATTTTATGATATAT AATATATATTATATTTTATGATATATAATATATATTATATTTTATGATAT ATAATATATATTATATTTTATGATATATAATATATATTATATTTTATGAT ATATATTATATATTATATTTTATGATATATAATATATATTATATTTTATG ATATATAATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	340	0.0029	560	c.17 others(579): Show c.174+9791_*174+9792insATATTATATATCATAAAATATAATAT ATATTATATATCATAAAATATAATATATAATATATATCATAAAATATAAT ATATATTATATATCATAAAATATAATATATATTATATATCATAAAATATA ATATATATTATATATCATAAAATATAATATATATTATATATCATAAAATA TAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAA TATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAA AATATAATGTATATTATATATCATAAAATATAATGTATATTATATATCAT AAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATATC ATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATA TCATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATA TATCATAAAATATAATATATATTATATTATATATTATAATATAATATATA ATATATATTATATATTATAATATAAAATATAATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATTATA others(553): Show ATATTATATTTTATATTATAATATATAATATATATTATATTTTATATTAT AATATATAATATAATATATATTATATTTTATGATATATAATATACATTAT ATTTTATGATATATAATATACATTATATTTTATGATATATAATATACATT ATATTTTATGATATATAATATACATTATATTTTATGATATATAATATACA TTATATTTTATGATATATAATATACATTATATTTTATGATATATAATATA CATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATA TACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAA TATACATTATATTTTATGATATATAATATACATTATATTTTATGATATAT AATATACATTATATTTTATGATATATAATATACATTATATTTTATGATAT ATAATATATATTATATTTTATGATATATAATATATATTATATTTTATGAT ATATATTATATATTATATTTTATGATATATAATATATATTATATTTTATG ATATATAATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	340	0.0029	560	c.17 others(579): Show c.174+9791_*174+9792insATATTATATATCATAAAATATAATAT ATATTATATATCATAAAATATAATATATAATATATATCATAAAATATAAT ATATATTATATATCATAAAATATAATATATATTATATATCATAAAATATA ATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATA TAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAA TATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAA AATATAATGTATATTATATATCATAAAATATAATGTATATTATATATCAT AAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATATC ATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATA TCATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATA TATCATAAAATATAATATATATTATATTATATATTATAATATAAAATATA ATATATATTATATATTATAATATAAAATATAATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATTATA others(553): Show ATATTATATTTTATATTATAATATATAATATATATTATATTTTATATTAT AATATATAATATAATATATATTATATTTTATGATATATAATATACATTAT ATTTTATGATATATAATATACATTATATTTTATGATATATAATATACATT ATATTTTATGATATATAATATACATTATATTTTATGATATATAATATACA TTATATTTTATGATATATAATATACATTATATTTTATGATATATAATATA CATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATA TACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAA TATACATTATATTTTATGATATATAATATACATTATATTTTATGATATAT AATATACATTATATTTTATGATATATAATATATATTATATTTTATGATAT ATAATATATATTATATTTTATGATATATAATATATATTATATTTTATGAT ATATATTATATATTATATTTTATGATATATAATATATATTATATTTTATG ATATATAATAT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	340	0.0029	560	c.17 others(579): Show c.174+9791_*174+9792insATATTATATATCATAAAATATAATAT ATATTATATATCATAAAATATAATATATAATATATATCATAAAATATAAT ATATATTATATATCATAAAATATAATATATATTATATATCATAAAATATA ATATATATTATATATCATAAAATATAATGTATATTATATATCATAAAATA TAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAA TATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAA AATATAATGTATATTATATATCATAAAATATAATGTATATTATATATCAT AAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATATC ATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATA TCATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATA TATCATAAAATATAATATATATTATATTATATATTATAATATAAAATATA ATATATATTATATATTATAATATAAAATATAATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATTATA others(553): Show ATATTATATTTTATATTATAATATATAATATATATTATATTTTATATTAT AATATATAATATAATATATATTATATTTTATGATATATAATATACATTAT ATTTTATGATATATAATATACATTATATTTTATGATATATAATATACATT ATATTTTATGATATATAATATACATTATATTTTATGATATATAATATACA TTATATTTTATGATATATAATATACATTATATTTTATGATATATAATATA CATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATA TACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAA TATACATTATATTTTATGATATATAATATACATTATATTTTATGATATAT AATATATATTATATTTTATGATATATAATATATATTATATTTTATGATAT ATAATATATATTATATTTTATGATATATAATATATATTATATTTTATGAT ATATATTATATATTATATTTTATGATATATAATATATATTATATTTTATG ATATATAATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02040.hp1 NA18747.hp1 others(6): Show HG02027.hp2 HG02040.hp1 NA18747.hp1 NA18941.hp2 NA18964.hp1 NA18979.hp1 NA19001.hp1 NA19004.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0261 others(6): Show a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0006g0266	9	340	0.0265	560	c.17 others(579): Show c.174+9791_*174+9792insATATTATATATCATAAAATATAATAT ATATTATATATCATAAAATATAATATATAATATATATCATAAAATATAAT ATATATTATATATCATAAAATATAATATATATTATATATCATAAAATATA ATATATATTATATATCATAAAATATAATATATATTATATATCATAAAATA TAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAA TATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAA AATATAATGTATATTATATATCATAAAATATAATGTATATTATATATCAT AAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATATC ATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATA TCATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATA TATCATAAAATATAATATATATTATATTATATATTATAATATAAAATATA ATATATATTATATATTATAATATAAAATATAATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATTATA others(553): Show ATATTATATTTTATATTATAATATATAATATATATTATATTTTATATTAT AATATATAATATAATATATATTATATTTTATGATATATAATATACATTAT ATTTTATGATATATAATATACATTATATTTTATGATATATAATATACATT ATATTTTATGATATATAATATACATTATATTTTATGATATATAATATACA TTATATTTTATGATATATAATATACATTATATTTTATGATATATAATATA CATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATA TACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAA TATACATTATATTTTATGATATATAATATATATTATATTTTATGATATAT AATATATATTATATTTTATGATATATAATATATATTATATTTTATGATAT ATAATATATATTATATTTTATGATATATAATATATATTATATTTTATGAT ATATATTATATATTATATTTTATGATATATAATATATATTATATTTTATG ATATATAATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp1 HG03540.hp1 HG02630.hp1 HG02896.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0254	3	340	0.0088	560	c.17 others(579): Show c.174+9791_*174+9792insATATTATATATCATAAAATATAATAT ATATTATATATCATAAAATATAATATATAATATATATCATAAAATATAAT ATATATTATATATCATAAAATATAATATATATTATATATCATAAAATATA ATATATATTATATATCATAAAATATAATATATATTATATATCATAAAATA TAATATATATTATATATCATAAAATATAATGTATATTATATATCATAAAA TATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAA AATATAATGTATATTATATATCATAAAATATAATGTATATTATATATCAT AAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATATC ATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATA TCATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATA TATCATAAAATATAATATATATTATATTATATATTATAATATAAAATATA ATATATATTATATATTATAATATAAAATATAATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNTG2_chr2_945849_1372613	1222543	T T	TCGCTGTA others(553): Show TCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGTGCGTCTCCCTGTCCTGC CTGCTGCTGGAGGGGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTGATGG AGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGGGCTGGATCGCTGTAGA GGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGG AGGGGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGTGCGTCCC CCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGC GCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGA TCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGTGCGTCCCCCTGTCCTGC CTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTGATGG AGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGA GGAAACTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGG AGGTGCTGGAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0036 a0004c0014t0001g0036	1	190	0.0053	560	c.719 others(579): Show c.719+13331_719+13332insCGCAGTGATGGAGTGCGTCTCCCTGT CCTGCCTGCTGCTGGAGGGGCTGGATCGCTGTAGAGGAAAGCGGTGCAGT GATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGGGCTGGATCGCT GTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCT GCTGGAGGGGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGTGC GTCCCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAA GCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTG CTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGTGCGTCCCCCTGT CCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGT GATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCT GTAGAGGAAACTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCT GCTGGAGGTGCTGGACCGCTGTAGAGGAAAGCGG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPIRE2_chr16_89823475_89876319	89852705	T T	TCCATCTT others(553): Show TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC ATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCCTGG CCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGATCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCTCAAGATCCCATGGCCCATCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCA GATCCCATGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	356	0.0028	560	c.646 others(577): Show c.646-1579_646-1578insATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCTCAAGATCCCATGGC CCATCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCAGATCCCATGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852814	G G	GGATCCCA others(553): Show GGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCC GGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGCATCCCATGGCCCGTCTTCCATCCTCCCTCTCACCCCCC GCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCTCAA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0353	1	356	0.0028	560	c.646 others(577): Show c.646-1463_646-1462insATCCATCTTCCATCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCC CTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCATCCTCC CTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCTCAAGATCCCATG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS3_chr17_4428940_4493204	4462390	C C	CACCAATC others(553): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCATCCA TCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATCCATC CACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCATCCA CCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATCCATC CATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAATCTA TCCATCCATCCATCCATCCATCCATCCATCCACCAATCTATCCATCCATC CATCCACCCATCCGCCAATCCATCCATCCATCCATCCATCCACCAATCCA TCCACCCACCCATCCACCAATCCATCCATCCACCCACCCACCCACCCACC CACCAATGCATCCATCCACCCACCCACCCACCCACCCACCCATCCATCCA CCAGTCTATCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02896.hp1 HG02055.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0318 a0001c0003t0002g0114 a0001c0003t0001g0318 a0001c0003t0002g0114	2	362	0.0055	560	c.111 others(579): Show c.1113+9186_1113+9187insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCACCCACCCACCAGTCCATCCACC CACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCACCAA TCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATCCACC AATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCATCCA CCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCTACC CACCCATCCATCCACCAATCTATCCATCCATCCATCCATCCATCCATCCA TCCACCAATCTATCCATCCATCCATCCACCCATCCGCCAATCCATCCATC CATCCATCCATCCACCAATCCATCCACCCACCCATCCACCAATCCATCCA TCCACCCACCCACCCACCCACCCACCAATGCATCCATCCACCCACCCACC CACCCACCCACCCATCCATCCACCAGTCTATCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462394	C C	CACCAATC others(553): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAA TCTATCCATCCATCCATCCATCCATCCATCCATCCACCAATCTATCCATC CATCCATCCACCCATCCGCCAATCCATCCATCCATCCATCCACCAATCCA TCCACCCACCCATCCACCAATCCATCCATCCACCCACCCACCCACCCACC CACCAATGCATCCATCCACCCACCCACCCACCCACCCACCCATCCATCCA CCAGTCTATCA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0010 a0001c0006t0001g0010	1	362	0.0028	560	c.111 others(579): Show c.1113+9190_1113+9191insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACC TACCCACCCATCCATCCACCAATCTATCCATCCATCCATCCATCCATCCA TCCATCCACCAATCTATCCATCCATCCATCCACCCATCCGCCAATCCATC CATCCATCCATCCACCAATCCATCCACCCACCCATCCACCAATCCATCCA TCCACCCACCCACCCACCCACCCACCAATGCATCCATCCACCCACCCACC CACCCACCCACCCATCCATCCACCAGTCTATCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462398	C C	CACCAATC others(553): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAA TCTATCCATCCATCCATCCATCCATCCATCCATCCACCAATCTATCCATC CATCCATCCACCCATCCGCCAATCCATCCATCCATCCATCCACCAATCCA TCCACCCACCCATCCACCAATCCATCCATCCACCCACCCACCCACCCACC CACCAATGCATCCATCCACCCACCCACCCACCCACCCACCCATCCATCCA CCAGTCTATCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02809.hp1 HG01884.hp2 HG02809.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0160 a0001c0007t0003g0319 a0001c0007t0003g0160 a0001c0007t0003g0319	2	362	0.0055	560	c.111 others(579): Show c.1113+9194_1113+9195insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACC TACCCACCCATCCATCCACCAATCTATCCATCCATCCATCCATCCATCCA TCCATCCACCAATCTATCCATCCATCCATCCACCCATCCGCCAATCCATC CATCCATCCATCCACCAATCCATCCACCCACCCATCCACCAATCCATCCA TCCACCCACCCACCCACCCACCCACCAATGCATCCATCCACCCACCCACC CACCCACCCACCCATCCATCCACCAGTCTATCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCK3_chr4_166728384_167239494	167109041	C C	CTTATATA others(553): Show CTTATATAAAAATATATATAAATATATACTTATATAAAAATATATATAAA TATATACTTATATAAAAATATATATAAATATATACTTATATAAAAATATA TATAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAA AATATATATAAATATATATTTATATAAAAATATATATAAATATATATTTA TATAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATA TATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATA AATATATATTTATATATAAATATATATAAATATATATTTATATAAAAATA TATATAAATATATATTTATATAAAAATATATATAAATATATATTTATATA AAAATATATATAAATATATATTTATATAAAAATATATATAAATATATATT TATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAATA TATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	144	0.0069	560	c.190 others(579): Show c.190-46505_190-46504insATATATATTTATATATATTTTTATAT AAATATATATTTATATATATTTTTATATAAATATATATTTATATATATTT TTATATAAATATATATTTATATATATTTTTATATAAATATATATTTATAT ATATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATAT TTATATATATTTTTATATAAATATATATTTATATATATTTTTATATAAAT ATATATTTATATATATTTATATATAAATATATATTTATATATATTTTTAT ATAAATATATATTTATATATATTTTTATATAAATATATATTTATATATAT TTTTATATAAATATATATTTATATATATTTTTATATAAATATATATTTAT ATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATATAT ATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATATAA GTATATATTTATATATATTTTTATATAAGTATATATTTATATATATTTTT ATATAAGTATATATTTATATATATTTTTATATAA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(553): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGACAGGGAGA GGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGA GGGGAGGGGGAGAGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGG GGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGGAGGGAGA GGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGAT GGGGGAGGGGGAGGGAGAGGGATGGGGAGGGAGAGGGATGGGGGAGGGAG AGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAG AGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAG AGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0001 a0010c0030t0001	a0010c0030t0001g0002 a0010c0030t0001g0002	2	256	0.0078	560	c.22 others(571): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG AGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGG GAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGAGAGAGAGGGAGGGGGC GGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGG AGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAG AGGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGGG GGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGAGGGAGAG GGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGG GAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGA GAGAGAGGGAGAGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(553): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGA GAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGG AGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGG AGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGG AGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGGGGAGGGAGA GAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGG AGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGGGAGGGAGAGGGAGAG AGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAGGGAGAGAG AGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0164 a0001c0003t0001g0164	1	256	0.0039	560	c.22 others(571): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG AGAGGGAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAG GGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGG AGGGGGCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGG GAGAGGGAGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGG GAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGG GAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAG GGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGG GAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTGAGA GAGAGAGGGAGAGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
TCF25_chr16_89868592_89916379	89908674	T T	TCCTCCCA others(553): Show TCCTCCCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCACCTCCCT CCTCCCAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACCTTCCAG CTCCCAGCTCCCGGCTCCCGGCTCCCACCTCCCTCCTCCCACCTCCCACC TCCCAGCTCCCGCCTCCCTCCTCCCACCTCCCTCCTCCCAGTTCCTACCT CCTATCTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTC CCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCC TAGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCAGCTCCC ACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTCCA GCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCCAGTTCCCAC CTCCCAGCTCCCACCTCCCACCTCCCAACTCCCACCTCCCAACTCCCTCC TCCCACCTCCCAACTCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCCT CGCAGTTCCCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00609.hp1 others(24): Show HG00323.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01175.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG03491.hp2 HG03492.hp1 NA18612.hp1 NA18940.hp2 NA18952.hp2 NA18955.hp2 NA18960.hp1 NA18990.hp2 NA19003.hp1 NA19070.hp2 NA19074.hp2 NA19087.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0003c0014 a0005c0007 a0001c0002 a0003c0014 a0005c0007	a0001c0002t0001 a0001c0002t0005 a0003c0014t0001 others(1): Show a0001c0002t0001 a0001c0002t0005 a0003c0014t0001 a0005c0007t0001	a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0024 others(24): Show a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0005g0027 a0003c0014t0001g0026 a0005c0007t0001g0047	27	300	0.0900	560	c.179 others(579): Show c.1799+1359_1799+1360insCCTCCCAGTTCCCGCCTCCCACCTCT CACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCCCACCTCCC AGCTCCAACCTTCCAGCTCCCAGCTCCCGGCTCCCGGCTCCCACCTCCCT CCTCCCACCTCCCACCTCCCAGCTCCCGCCTCCCTCCTCCCACCTCCCTC CTCCCAGTTCCTACCTCCTATCTCCCAGCTCCCAGCTGCCACCTCCCAGC TTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCT CCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTC CCACCTCCCAGCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCC CGCCTCCCACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCC TCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCACCTCCCAACTCCCA CCTCCCAACTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTTCCAG TTCCCACCTCCTTCCTCGCAGTTCCCACCTCCCA	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89908674	T T	TCCTCCCA others(553): Show TCCTCCCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCACCTCCCT CCTCCCAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACCTTCCAG CTCCCAGCTCCCGGCTCCCGGCTCCCACCTCCCTCCTCCCACCTCCCACC TCCCAGCTCCCGCCTCCCTCCTCCCACCTCCCTCCTCCCAGTTCCTACCT CCTATCTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTC CCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCC TAGTTGCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCAGCTCCC ACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTCCA GCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCCAGTTCCCAC CTCCCAGCTCCCACCTCCCACCTCCCAACTCCCACCTCCCAACTCCCTCC TCCCACCTCCCAACTCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCCT CGCAGTTCCCA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	300	0.0033	560	c.179 others(579): Show c.1799+1359_1799+1360insCCTCCCAGTTCCCGCCTCCCACCTCT CACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCCCACCTCCC AGCTCCAACCTTCCAGCTCCCAGCTCCCGGCTCCCGGCTCCCACCTCCCT CCTCCCACCTCCCACCTCCCAGCTCCCGCCTCCCTCCTCCCACCTCCCTC CTCCCAGTTCCTACCTCCTATCTCCCAGCTCCCAGCTGCCACCTCCCAGC TTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCT CCCGCCTCCCTCATCCTAGTTGCCACCTCCCAGCTCCCAGCTCCCTCCTC CCACCTCCCAGCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCC CGCCTCCCACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCC TCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCACCTCCCAACTCCCA CCTCCCAACTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTTCCAG TTCCCACCTCCTTCCTCGCAGTTCCCACCTCCCA	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TERT_chr5_1248167_1300068	1273097	C C	CACGACCG others(553): Show CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATC AGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCACGACTGCCATCCACAGTCAC CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCC GGGACCAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATC CACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACATC AGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCC ATCCACAGTCACCACATCAGACCCCACGACCACCATCCACAGTCACCACA CATCAGACCCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0370 a0001c0001t0001g0370	1	392	0.0026	560	c.228 others(577): Show c.2287-818_2287-817insAGGGTCTGATGTGTGGTGACTGTGGATG GTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTTGGTCCCGGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCAG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGGTGACTGTGGATGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMEM120B_chr12_121707752_121787068	121747613	G G	GCACTGGG others(553): Show GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0075	1	314	0.0032	560	c.189 others(575): Show c.189-712_189-711insACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121748042	C C	CTGGGGTA others(553): Show CTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGA AGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGG GAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGG GAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGG GGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGT GGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGG CACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGG GAGACACTGAAGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCT GGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTA GAAGGCGGGAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0271 a0001c0001t0025g0271	1	314	0.0032	560	c.189 others(575): Show c.189-284_189-283insTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGACACTGAAGTAGAAGGTGGGAGGCACTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATATTTAT others(553): Show ATATTTATATTTTATTTTTATATTTATATTATATATATATTTTTATATTT ATATTTATATATTATTATATTATATTTATATATTATATAAAAATATATAT CATATATATTTATATATTATATAAAAATATATATCATATATATTTATATA TTATATAAAAATATATATCATATATATTTATATATTATATAAAAATATAT ATCATATATATTTATATATTATATAAAAATATATATCATATATATTTATA TATTATATAAAAATATATATCATATATATTTATATATTATATAAAAATAT ATATCATATATATTTATATATTAAAAATATATATCATATATATTTATATA TTAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATA TATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATAT ATATCATATATATTTATATATTAAAAATATATATCATATATATTTATATA TTAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATA TATTTATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0035 a0003c0031t0035	a0003c0031t0035g0005 a0003c0031t0035g0005	1	128	0.0078	560	c.143 others(581): Show c.1437+28904_1437+28905insTTTATATTTTATTTTTATATTTAT ATTATATATATATTTTTATATTTATATTTATATATTATTATATTATATTT ATATATTATATAAAAATATATATCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTATATAAAAATATATATCATATATAT TTATATATTATATAAAAATATATATCATATATATTTATATATTATATAAA AATATATATCATATATATTTATATATTATATAAAAATATATATCATATAT ATTTATATATTATATAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTA	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(553): Show CAGCCTCCACCATCATCACTCACCAGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0004 a0009c0008t0004	a0009c0008t0004g0047 a0009c0008t0004g0047	1	94	0.0106	560	c.129 others(581): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCTGGTGAGTGATGATGGTGGAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(553): Show CAGCCTCCACCATCATCACTCGCCAGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0080 a0001c0016t0003g0080	1	94	0.0106	560	c.129 others(581): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCTGGCGAGTGATGATGGTGGAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(553): Show CAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCAACATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0016 a0004c0017t0001g0016	1	94	0.0106	560	c.129 others(581): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGTTGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMPRSS2_chr21_41459305_41513158	41474494	A A	AGTGAGGA others(553): Show AGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTG AGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTG GGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTG GGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGG TGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTG AGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAG TGAGGGGGTGG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0020 a0002c0005t0001g0020	1	382	0.0026	560	c.728 others(575): Show c.728-999_728-998insCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC CCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCC TCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCC TCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTC ACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS2_chr21_41459305_41513158	41474494	A A	AGTGAGGA others(553): Show AGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTG AGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTG GGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGG TGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTG AGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGG TGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTG AGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAG TGAGGGGGTGG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0291 a0001c0010t0001g0291	1	382	0.0026	560	c.728 others(575): Show c.728-999_728-998insCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC CCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC CCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCC TCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTC ACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMTC2_chr12_82681906_83139866	82899962	A A	ATGTAGGA others(553): Show ATGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATA TACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATA TAGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAAT GTATATACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCCG GAATATAGATCTGTAGGAATGTATATACATATCCGGAATATAGATATGTA GGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATATACAT ATCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATATAGAT ATGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATA TACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATA TAGATCTGTAGGAATGTATATACATATCCGGAATATAGATCTGTAGGAAT GTATATACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCCG GAATATAGATC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0009 a0001c0001t0013g0009	1	96	0.0104	560	c.148 others(579): Show c.1483+3350_1483+3351insATGTAGGAATGTATATACATATCCGG AATATAGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTAG GAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATATACATA TCCGGAATATAGATCTGTAGGAATGTATATACATATCCGGAATATAGATC TGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATAT ACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATAT AGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATG TATATACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCGG AATATAGATATGTAGGAATGTATATACATATCCGGAATATAGATCTGTAG GAATGTATATACATATCCGGAATATAGATCTGTAGGAATGTATATACATA TCCGGAATATAGATCTGTAGGAATGTATATACATATCCGGAATATAGATC TGTAGGAATGTATATACATATCCGGAATATAGAT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr12	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)