Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PTPRA_chr20_2868481_3043669	2953414	T T	TGGCTAAT others(195): Show TGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	356	0.0028	202	c.-7+ others(217): Show c.-7+5410_-7+5411insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGTATTTTT	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
PUM3_chr9_2799152_2849095	2814057	T T	TCTAACCA others(195): Show TCTAACCACCTCAAAATGAATAACTAATTACAACCACTCAGGGAAAATGA ACTTAAAATTTCAGTAACAAACGGGAAAACACACAAAAAACATACAGAAC TTGTTACAAGGCAGGGAACTCTCTCAAGGAAAACAAGCTCCAAAGTGAAC TCAAACTATTTTTTTTTTTTTTTTTGAGACGGAATCTCACTCTGTTGCCC AGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02630.hp2 others(6): Show HG01891.hp1 HG02258.hp1 HG02630.hp2 HG02818.hp1 HG03209.hp2 HG03516.hp2 NA19043.hp2 NA19060.hp2 NA21309.hp2	a0001 a0003 a0017 a0001 a0003 a0017	a0001c0005 a0003c0004 a0017c0021 a0001c0005 a0003c0004 a0017c0021	a0001c0005t0001 a0003c0004t0001 a0017c0021t0007 a0001c0005t0001 a0003c0004t0001 a0017c0021t0007	a0001c0005t0001g0019 a0001c0005t0001g0057 a0001c0005t0001g0058 others(5): Show a0001c0005t0001g0019 a0001c0005t0001g0057 a0001c0005t0001g0058 a0001c0005t0001g0059 a0001c0005t0001g0060 a0001c0005t0001g0079 a0003c0004t0001g0161 a0017c0021t0007g0312	9	420	0.0214	202	c.127 others(221): Show c.1270-1696_1270-1695insCCTGGGCAACAGAGTGAGATTCCGTC TCAAAAAAAAAAAAAAAAATAGTTTGAGTTCACTTTGGAGCTTGTTTTCC TTGAGAGAGTTCCCTGCCTTGTAACAAGTTCTGTATGTTTTTTGTGTGTT TTCCCGTTTGTTACTGAAATTTTAAGTTCATTTTCCCTGAGTGGTTGTAA TTAGTTATTCATTTTGAGGTGGTTAG	PUM3	ENSG00000080608.10	transcript	ENST00000397885.3	protein_coding	13/17			chr9	TogoVar
PXDN_chr2_1626887_1749515	1720015	G G	GAGAGAGA others(195): Show GAGAGAGAGAGAGAGAGGGAGGGATGCAGAGAGAGAGGGAGGGGAGGGAT GTAGAGAGAGAGAGGGAGGGATGCAGAGAGAGAGGGAGGGGAGGGATGCA GAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGG GATGCAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAAGAA TGC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0006 a0001c0039t0006	a0001c0039t0006g0045 a0001c0039t0006g0045	1	322	0.0031	202	c.200 others(221): Show c.200+24240_200+24241insGCATTCTTCCCTCCCTCTCTCTCTGC ATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCT GCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCCTCCCTCTCTC TCTGCATCCCTCCCTCTCTCTCTCTACATCCCTCCCCTCCCTCTCTCTCT GCATCCCTCCCTCTCTCTCTCTCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB27A_chr15_55197966_55294813	55209923	C C	CACATATG others(195): Show CACATATGTGTGTATATATACGTATACACACATATGTGTGTATATACGTA TATATACACACATATGTGTGTATATACGTATATATACACACATATGTGTG TATATACGTATATATACACACATATGTGTGTATATACGTATATATACACA CATATGTGTGTGTATATACGTATATACACACATATGTGTATATACGTATA TAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0292 a0001c0001t0003g0292	1	320	0.0031	202	c.468 others(219): Show c.468-4219_468-4218insATATATACGTATATACACATATGTGTGT ATATACGTATATACACACACATATGTGTGTATATATACGTATATACACAC ATATGTGTGTATATATACGTATATACACACATATGTGTGTATATATACGT ATATACACACATATGTGTGTATATATACGTATATACACACATATGTGTGT ATACGTATATATACACACATATGT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55209923	C C	CACATATG others(195): Show CACATATGTGTGTATATATACGTATACACACATATGTGTGTATATACGTA TGTATACACACATATGTGTGTATATACGTATATACACACACATGTGTGTG TATATACGTATATATACACACATGTGTGTGTATATACGTATATATACACA CATGTGTGTGTATATACGTATATATACACACATATGTGTATATACGTATA TAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0195	1	320	0.0031	202	c.468 others(219): Show c.468-4219_468-4218insATATATACGTATATACACATATGTGTGT ATATATACGTATATACACACACATGTGTGTATATATACGTATATACACAC ACATGTGTGTATATATACGTATATACACACACATGTGTGTGTATATACGT ATATACACACATATGTGTGTATACATACGTATATACACACATATGTGTGT ATACGTATATATACACACATATGT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB3C_chr5_58578075_58864394	58597120	C C	CATAATAT others(195): Show CATAATATATATTATATAATATATATAATACATAATATATATTATATAAT AATATATAATACATTATATATATTATATAATATATATAATACATTATATA TATTATATAATATATATAATACATTATATATTATATAATATATAATACAT TATATATTATATAATATAGATAATACATTATCTATATTATATAATAATAT ATA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0187 a0001c0001t0004g0187	1	220	0.0046	202	c.24+ others(219): Show c.24+13898_24+13899insTTATATAATATATATAATACATAATATA TATTATATAATAATATATAATACATTATATATATTATATAATATATATAA TACATTATATATATTATATAATATATATAATACATTATATATTATATAAT ATATAATACATTATATATTATATAATATAGATAATACATTATCTATATTA TATAATAATATATAATAATATATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377594	T T	TATGCATA others(195): Show TATGCATATATATGCATATATATGTATGCATATATATATGCATATATATG TATACATATATATGCATATATATGTATACATATATATGCATATATATGTA TACATATATATGCATATATATGTATACATATATATGCATATATATATGCA TACATATATATGCATACATATATGCATGCATATATATATGCATACATATA TGC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0162 a0002c0002t0001g0162	1	359	0.0028	202	c.351 others(219): Show c.351+2895_351+2896insGCATATATATGTATGCATATATATATGC ATATATATGTATACATATATATGCATATATATGTATACATATATATGCAT ATATATGTATACATATATATGCATATATATGTATACATATATATGCATAT ATATATGCATACATATATATGCATACATATATGCATGCATATATATATGC ATACATATATGCATGCATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD51C_chr17_58687602_58740611	58726608	G G	GTATACGT others(195): Show GTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATAGAT GTATATACATATGTATATATGTGTATACGTATAGATGTATATACATATGT ATATATGTGTATACGTATAGATGTATATACATATGTATATATGTGTATAC GTATAGATGTATATACATATGTATATATGTGTATACGTATAGATGTATAT ACA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	330	0.0030	202	c.965 others(219): Show c.965+2511_965+2512insACGTATAGATGTATATACATATGTATAT ATGTGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTAT AGATGTATATACATATGTATATATGTGTATACGTATAGATGTATATACAT ATGTATATATGTGTATACGTATAGATGTATATACATATGTATATATGTGT ATACGTATAGATGTATATACATAT	RAD51C	ENSG00000108384.16	transcript	ENST00000337432.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
RIPOR3_chr20_50581108_50696542	50666183	A A	ATTTCTTT others(195): Show ATTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	280	0.0036	202	c.3+2 others(217): Show c.3+24942_3+24943insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF17_chr13_24759169_24884921	24881880	A A	ATAGATAC others(195): Show ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0191 a0003c0006t0001g0191	1	426	0.0024	202	c.21 others(213): Show c.2154_*2155insTAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1960		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTAGATAG others(195): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGACACATCTAGATAGATATATAGACACATCTAGATAGATAT ATAGACACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02572.hp2 NA18522.hp2 HG02486.hp2 HG02572.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0032 a0001c0002t0001g0106 a0001c0002t0001g0028 a0001c0002t0001g0032 a0001c0002t0001g0106	3	426	0.0070	202	c.22 others(213): Show c.2236_*2237insTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGACACATCTAGATAGATATATAGACA CATCTAGATAGATATATAGACACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGTGGGG others(195): Show GGGTGGGGTGGAGTGGGGTGGGGTGGGGCGGGGCCCGCCCGGCTCGCGGA GGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGTCCCCGGGGGCCCGTCCC CACCGAGGAAACGGACGGCGGCCGCCCCCGACGCCGCTGCCGCCGCCGCC GCCCCCGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGCCGCCCC CGC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01978.hp2 HG02300.hp1 others(1): Show HG01257.hp2 HG01978.hp2 HG02300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 others(1): Show a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270	4	356	0.0112	202	c.-36 others(217): Show c.-367+48_-367+49insTGGGGTGGAGTGGGGTGGGGTGGGGCGGGG CCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGT CCCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGCCCCCGACG CCGCTGCCGCCGCCGCCGCCCCCGCCGCCGCCGCCGCCCCCGCCGCCCCC GCCGCCCCCGCCGCCCCCGCGG	RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(195): Show TCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0066 a0003c0003t0066	a0003c0003t0066g0200 a0003c0003t0066g0200	1	366	0.0027	202	c.-15 others(213): Show c.-1515_-1514insCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1081		chr19	TogoVar
RSU1_chr10_16585611_16822424	16645969	T T	TATACATA others(195): Show TATACATATATGTATATATACATATACGTATATATACATATATGTATATA TACATATACGTATATATACATATATGTATATATACATATACGTATATATA CATATATGTATATATACATATACGTATATATACATATATGTATATATACA TATACGTATATATACATATGTGTATATATACATATATATGTGTGTGTATA TAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02080.hp1 HG02155.hp1 HG02056.hp1 HG02080.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001	a0001c0001t0002g0034 a0001c0001t0003g0183 a0001c0003t0001g0145 a0001c0001t0002g0034 a0001c0001t0003g0183 a0001c0003t0001g0145	3	190	0.0158	202	c.731 others(221): Show c.731+49053_731+49054insGTATATACACACACATATATATGTAT ATATACACATATGTATATATACGTATATGTATATATACATATATGTATAT ATACGTATATGTATATATACATATATGTATATATACGTATATGTATATAT ACATATATGTATATATACGTATATGTATATATACATATATGTATATATAC GTATATGTATATATACATATATGTAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RXRA_chr9_134321455_134445585	134444377	C C	CCCTCCTT others(195): Show CCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCTTCCCTCT CCCTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCCCCTCCCTCCTT CCCCCTCCCTCCTCCCTTCCCCTCCCTCTTCCCTTCCCCCTCCCTCCTCC CTTCCCCCTCCTCCCTTCCCCCTCCCTCCTTCCTTCCCCCTCCCTCCTTC CTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02886.hp1 HG01109.hp1 HG02055.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0151 a0001c0001t0012g0157 a0001c0001t0012g0162 a0001c0001t0012g0151 a0001c0001t0012g0157 a0001c0001t0012g0162	3	232	0.0129	202	c.77 others(213): Show c.7763_*7764insCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCC TCCTTCCTTCCCTCTCCCTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCT TCCCCCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCCCTCCCTCTTCCCTT CCCCCTCCCTCCTCCCTTCCCCCTCCTCCCTTCCCCCTCCCTCCTTCCTT CCCCCTCCCTCCTTCCTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3793		chr9	TogoVar
SAMD11_chr1_918923_949574	934735	C C	CAGGGGGA others(195): Show CAGGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTA CAGGTGGGCAGGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGGAGGCGG CTCCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGCGGCTGCGTTACAGGTGG GCA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0274 a0001c0002t0011g0274	1	434	0.0023	202	c.843 others(219): Show c.843-1037_843-1036insAGGGGGAGGCGGCTCCGTTACAGGTGGG CAGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTCCGTTA CAGGTGGGCAGGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGGAGGCGG CTGCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGG GGGCGGCTGCGTTACAGGTGGGCA	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13			chr1	TogoVar
SATL1_chrX_85087284_85248779	85088095	T T	TACATATT others(195): Show TACATATTTATACATATATGTATACATACGTATTTATACATATATATGTA TAAATACGTATTTATACATATATATGTATAAATACATACATATTTATACA TATATATGTATAAATACATACATATATATGTATAAATACATACATATTTA TACATATATATGTATAAATACATACATATTTATACATATATATGTATAAA TAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0020 a0003c0003t0001g0020	1	232	0.0043	202	c.42 others(213): Show c.4295_*4296insGTATTTATACATATATATGTATAAATATGTATGT ATTTATACATATATATGTATAAATATGTATGTATTTATACATATATATGT ATGTATTTATACATATATATGTATAAATATGTATGTATTTATACATATAT ATGTATAAATACGTATTTATACATATATATGTATAAATACGTATGTATAC ATATATGTATAAATATGT	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4188		chrX	TogoVar
SCGB1A1_chr11_62414033_62428195	62426177	C C	CGTATTTT others(195): Show CGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	448	0.0022	202	c.30 others(213): Show c.3086_*3087insGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC GCGCCCGGCTAATTTTTT	SCGB1A1	ENSG00000149021.7	transcript	ENST00000278282.3	protein_coding		2983		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1288397	T T	TCCGTCCC others(195): Show TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	290	0.0035	202	c.166 others(219): Show c.1662+372_1662+373insTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTG CCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCTCTGCCCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288511	T T	TCCCGTGT others(195): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG TCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0263 a0001c0020t0001g0263	1	290	0.0035	202	c.166 others(219): Show c.1662+482_1662+483insTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCT CCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288607	C C	CCGTGTCT others(195): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	290	0.0035	202	c.166 others(219): Show c.1662+571_1662+572insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATT CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288701	C C	CCGTGTCT others(195): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0072 a0007c0006t0001g0072	1	290	0.0035	202	c.166 others(219): Show c.1662+665_1662+666insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCATCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288813	C C	CCGTGTCT others(195): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0210 a0001c0009t0001g0210	1	290	0.0035	202	c.166 others(219): Show c.1662+777_1662+778insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288937	T T	TCCGTCCC others(195): Show TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0072 a0007c0006t0001g0072	1	290	0.0035	202	c.166 others(219): Show c.1662+907_1662+908insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289471	C C	CCGTGTCT others(195): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCC CGT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	290	0.0035	202	c.166 others(219): Show c.1663-799_1663-798insGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934390	T T	TATATATA others(195): Show TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18950.hp1 NA18747.hp2 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0184 a0002c0002t0003g0199 a0002c0002t0003g0184 a0002c0002t0003g0199	2	324	0.0062	202	c.115 others(219): Show c.115-2620_115-2619insGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934403	C C	CATATATA others(195): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATTC CAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	324	0.0031	202	c.115 others(219): Show c.115-2633_115-2632insATGGAATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SHANK1_chr19_50654255_50724802	50678902	G G	GATGGGAA others(195): Show GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGA TGGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGT CAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGA GAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGA TGA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0060 a0001c0002t0003g0060	1	316	0.0032	202	c.257 others(221): Show c.2578-6789_2578-6788insTCATCTTGACCCCTCCCCATCACCCT GACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACCCCTCTCCA TCACACTGACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACCC CTCTCCATCACACTGACACCCCCCCCATCACCCTCACCCCTTACCTGTAA TGCTTGTAACCCTGACCCCTTCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SIGIRR_chr11_400716_419999	401614	G G	GCCCCGCT others(195): Show GCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACACCCGGCC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACC GGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	242	0.0041	202	c.42 others(213): Show c.4281_*4282insGCCGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCG GGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGG GTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGGGTGTGAG CGGGGCGGGTGTGAGCGGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCG GGTCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4101		chr11	TogoVar
SIGIRR_chr11_400716_419999	411273	G G	GGGGGGTG others(195): Show GGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGG GGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGGTGCTCAG CTCTGACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATG TCTGGATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACA GTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	242	0.0041	202	c.-15 others(221): Show c.-153-1247_-153-1246insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCCGACTGC ATCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCCCGACTGTATCCAGA CATGGTCAGAGCTGGGCACCACCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411273	G G	GGGGGGTG others(195): Show GGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGG TGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGGGGTGCTCAG CTCTGACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATG TCTGGATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACA GTC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	242	0.0041	202	c.-15 others(221): Show c.-153-1247_-153-1246insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCCCCGACT GCATCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCGACTGTATCCAGA CATGGTCAGAGCTGGGCACCACCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIMC1_chr5_176233424_176350989	176305797	A A	AGGTGAGG others(195): Show AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGG CAGCCACCCCATCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCC GTCCGGGAGGGAGGTGGGGGGTCAGCCCCGACGCCCGGCCAGCCGTGCCA TCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0348 a0003c0016t0001g0348	1	360	0.0028	202	c.173 others(221): Show c.1735-7892_1735-7891insTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCCGTCTGAGAA GTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCG TCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC GACGCCCGGCCAGCCGTGCCATCCGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305803	G G	GGGCGCCT others(195): Show GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCTGCCCGGCAGCCAC CCCATCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCATCCGGG AGGGAGGTGGGGGGTCAGCCCCGACGCCCGGCCAGCCGTGCCATCCGGGG GGA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0312 a0002c0002t0002g0312	1	360	0.0028	202	c.173 others(221): Show c.1735-7888_1735-7887insGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCCGTCTGAGAAGTGAG GAGCCTCTCTGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCTCC GCCCGGCAGCCACCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCGACGC CCGGCCAGCCGTGCCATCCGGGGGGA	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9			chr5	TogoVar
SLAIN1_chr13_77692687_77769229	77704127	T T	TACGTTTT others(195): Show TACGTTTTATATGTATATATATACATAGAAAATATATATGCATATGTTTT ATATGTATATATATACATAGAAAATATATATACATATGTTTTATATGTAT ATATACATAGAAAATATATATACATGTTTTATATGTATATATATACATAG AAAATATATATACATGTTTTATATGTATATATATACATAGAAAATATATA TAC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	300	0.0033	202	c.626 others(219): Show c.626+5589_626+5590insCGTTTTATATGTATATATATACATAGAA AATATATATGCATATGTTTTATATGTATATATATACATAGAAAATATATA TACATATGTTTTATATGTATATATACATAGAAAATATATATACATGTTTT ATATGTATATATATACATAGAAAATATATATACATGTTTTATATGTATAT ATATACATAGAAAATATATATACA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704211	T T	TATGTTTT others(195): Show TATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTT ATATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGTAT ATATACATAGAAAATATATGTACATATGTTTTATATGTATATATACATAG AAAATATATATACATATGTTTTATATGTATATATACATAGAAAATATATA TAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	300	0.0033	202	c.626 others(219): Show c.626+5692_626+5693insTACATAGAAAATATATATACATATGTTT TATATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGTA TATATACATAGAAAATATATGTACATATGTTTTATATGTATATATACATA GAAAATATATATACATATGTTTTATATGTATATATACATAGAAAATATAT ATACATGTTTTATATGTATATATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704211	T T	TATGTTTT others(195): Show TATGTTTTATATGTATATATATACATAGAAAATATATGTACATATGTTTT ATATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGTAT ATATACATAGAAAATATATGTACATATGTTTTATATGTATATATACATAG AAAATATATGTACATATGTTTTATATGTATATATACATAGAAAATATATA TAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00642.hp1 others(25): Show HG00280.hp1 HG00639.hp1 HG00642.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01516.hp2 HG01517.hp2 HG02300.hp2 HG02486.hp1 HG02602.hp2 HG02735.hp2 HG02738.hp1 HG03017.hp2 HG03453.hp1 HG03516.hp2 HG03831.hp1 HG04184.hp2 NA19043.hp2 NA19240.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0001c0001t0001 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0159 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0001g0262 a0001c0001t0001g0276 a0001c0004t0001g0016 a0002c0002t0001g0166 a0002c0002t0001g0169	28	300	0.0933	202	c.626 others(219): Show c.626+5692_626+5693insTACATAGAAAATATATGTACATATGTTT TATATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGTA TATATACATAGAAAATATATGTACATATGTTTTATATGTATATATACATA GAAAATATATGTACATATGTTTTATATGTATATATACATAGAAAATATAT ATACATGTTTTATATGTATATATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704211	T T	TATGTTTT others(195): Show TATGTTTTATATGTATATATATACATAGAAAATATATGTACATATGTTTT ATATGTATATATATACATAGAAAATATATGTACATATGTTTTCTATGTAT ATATACATAGAAAATATATGTACATATGTTTTCTATGTATATATACATAG AAAATATATGTACATATGTTTTATATGTATATATACATAGAAAATATATA TAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18975.hp2 HG04115.hp2 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0250 a0002c0002t0001g0228 a0001c0001t0001g0250 a0002c0002t0001g0228	2	300	0.0067	202	c.626 others(219): Show c.626+5692_626+5693insTACATAGAAAATATATGTACATATGTTT TATATGTATATATATACATAGAAAATATATGTACATATGTTTTCTATGTA TATATACATAGAAAATATATGTACATATGTTTTCTATGTATATATACATA GAAAATATATGTACATATGTTTTATATGTATATATACATAGAAAATATAT ATACATGTTTTATATGTATATATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704211	T T	TATGTTTT others(195): Show TATGTTTTATATGTATATATATACATAGAAAATATATGTACATATGTTTT CTATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGTAT ATATACATAGAAAATATATGTACATATGTTTTATATGTATATATACATAG AAAATATATGTACATATGTTTTATATGTATATATACATAGAAAATATATA TAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	300	0.0033	202	c.626 others(219): Show c.626+5692_626+5693insTACATAGAAAATATATGTACATATGTTT TCTATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGTA TATATACATAGAAAATATATGTACATATGTTTTATATGTATATATACATA GAAAATATATGTACATATGTTTTATATGTATATATACATAGAAAATATAT ATACATGTTTTATATGTATATATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(195): Show GTATATATATATATATATATATATATATACTCTAAGTATTATATATTATA TACTCCAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATAT ATATATATATTTATACACACATATATATACATACACATATATATATACAC ACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATAT ATA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02647.hp1 HG03669.hp2 others(6): Show HG01975.hp2 HG02647.hp1 HG03669.hp2 HG04184.hp2 HG06807.hp1 NA18999.hp1 NA19063.hp1 NA19083.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0096 a0001c0002t0001g0032 a0001c0002t0001g0077 others(6): Show a0001c0001t0001g0096 a0001c0002t0001g0032 a0001c0002t0001g0077 a0001c0002t0001g0106 a0001c0002t0001g0127 a0001c0002t0001g0130 a0001c0002t0001g0161 a0001c0002t0001g0176 a0001c0002t0004g0059	9	266	0.0338	202	c.240 others(221): Show c.2402+1014_2402+1015insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TATATATATATATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(195): Show GTATATATATATATATATATATATATATATACTCTAAGTATTATATATTA TATACTCCAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTAT ATATATATATATTTATACACACATATATATACATACACATATATATATAC ACACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATAT ATA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02040.hp1 HG02132.hp2 others(9): Show HG01952.hp2 HG02040.hp1 HG02132.hp2 HG03225.hp2 HG03486.hp1 NA18612.hp1 NA18950.hp1 NA18974.hp1 NA19060.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0005c0017 others(1): Show a0001c0001 a0001c0002 a0005c0017 a0007c0018	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0017 a0005c0017t0001 a0007c0018t0001	a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0214 others(9): Show a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0214 a0001c0001t0005g0024 a0001c0002t0001g0036 a0001c0002t0001g0060 a0001c0002t0001g0067 a0001c0002t0001g0136 a0001c0002t0001g0220 a0001c0002t0017g0264 a0005c0017t0001g0098 a0007c0018t0001g0239	12	266	0.0451	202	c.240 others(221): Show c.2402+1016_2402+1017insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TATATATATATATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(195): Show GTATATATATATATATATATATATATATATATACTCTAAGTATTATATAT TATATACTCCAAAACTGTGTGTGTGTGTGTATATATATATATATATATGT ATATATATATATATTTATACACACATATATATACATACACATATATATAT ACACACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTAT ATA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	266	0.0038	202	c.240 others(221): Show c.2402+1018_2402+1019insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TATATATATATATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC25A12_chr2_171778405_171899244	171866678	G G	GCGGGGGG others(195): Show GCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCGGG GGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGGGGGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0297 a0001c0002t0001g0297	1	314	0.0032	202	c.209 others(219): Show c.209+2002_209+2003insGCCGGCCAGCCGCCCCGTCCAGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCCGGCGAGCCGCCCCGTCTGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCCCCCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCCCCCCCCCGGCCAGCCGCCCCTTCCGGGAG GGAGGTAGGGGGGTCAGCCCCCCG	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A41_chr19_6421037_6438763	6429100	T T	TATATATA others(195): Show TATATATATAATATATATATTATATATATGTTACATATATATAATATATA TATTATATATATGTTATATATATATATAATATATATATTATATATATGTT ACATATATATAATATATATATTATATATATGTTATATATATATATAATAT ATATATTATATATATGTTACATATATATAATATATATATTATATATATGT TAC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19002.hp2 NA18969.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0225 a0001c0002t0001g0265 a0001c0001t0001g0225 a0001c0002t0001g0265	2	350	0.0057	202	c.624 others(217): Show c.624+623_624+624insGTAACATATATATAATATATATATTATATA TATGTAACATATATATAATATATATATTATATATATATATAACATATATA TAATATATATATTATATATATGTAACATATATATAATATATATATTATAT ATATATATAACATATATATAATATATATATTATATATATGTAACATATAT ATAATATATATATTATATATAT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC35F1_chr6_117902264_118322671	117923651	G G	GTACATAT others(195): Show GTACATATGTATATATACATATATGTACATATGTGCATATGTATATATAC ATATATGTACATATGTACATATATACATATGTATATATACATATATGTAC ATATGTACATATATACATATGTATATATACATATATGTACATATGTACAT ATATACATATACATATGTACATATACACATATACATATGTACATATGTAC ATA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	182	0.0055	202	c.173 others(221): Show c.173+15783_173+15784insGTGCATATGTATATATACATATATGT ACATATGTACATATATACATATGTATATATACATATATGTACATATGTAC ATATATACATATGTATATATACATATATGTACATATGTACATATATACAT ATACATATGTACATATACACATATACATATGTACATATGTACATATACAT ATGTATATATACATATATGTACATAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923702	T T	TATGTACA others(195): Show TATGTACATATGTACATATATACATATGTATATATACATATATGTACATA TGTACATATATGTATATATACATATATACATATGTATATATACATATATG TACATATGTACATATATACATATACATATATGTACATATACACATATACA TATGTATATATACATATATGTACACATGTACATATACATATGTATATATG TAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00735.hp1 HG01074.hp2 others(16): Show HG00609.hp2 HG00735.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01256.hp2 HG01261.hp2 HG01515.hp1 HG02735.hp1 HG03490.hp1 HG03492.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18983.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0001t0026 a0001c0001t0049 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0066	a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0069 others(16): Show a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0069 a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0003g0097 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0084 a0001c0001t0016g0087 a0001c0001t0026g0099 a0001c0001t0026g0100 a0001c0001t0049g0062 a0001c0001t0059g0096 a0001c0001t0060g0070 a0001c0001t0061g0067 a0001c0001t0066g0083	19	182	0.1044	202	c.173 others(221): Show c.173+15805_173+15806insGTACATATGTACATATATACATATGT ATATATACATATATGTACATATGTACATATATGTATATATACATATATAC ATATGTATATATACATATATGTACATATGTACATATATACATATACATAT ATGTACATATACACATATACATATGTATATATACATATATGTACACATGT ACATATACATATGTATATATGTACAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923722	T T	TATACATA others(195): Show TATACATATACATATGTACATATACACATATACATATGTATATATACATA TATGTACACATGTACATATACATATGTATATATGTACATATGTACATATA TGTATATGTACATATATGTACATATATACATATATACATATGTATATATG TACATATGTACATATATGTATATGTACATATATGTACATATATACATATG CAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0176 a0001c0001t0017g0176	1	182	0.0055	202	c.173 others(221): Show c.173+15831_173+15832insACATATGTACATATACACATATACAT ATGTATATATACATATATGTACACATGTACATATACATATGTATATATGT ACATATGTACATATATGTATATGTACATATATGTACATATATACATATAT ACATATGTATATATGTACATATGTACATATATGTATATGTACATATATGT ACATATATACATATGCACATACATAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(195): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATATAGTATATATTATATATTGTATATAATATATATAGTATAT ATTATATATTGTATATAATATATATAGTATATATTATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	156	0.0064	202	c.176 others(219): Show c.176-5096_176-5095insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATAATATATACT ATATATATTATATACAATATATAATATATACTATATATATTATATACAAT ATATAATATATACTATATATATTATATATACAATATAAAATATATATAAT ATATATTAGATATACAATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC7A1_chr13_29504414_29600688	29558109	G G	GGGAGTGA others(195): Show GGGAGTGAATGTGAGTAGGGGGGAGTGAATCTGAATGGGGGGGAGTGAAT GTGAGTGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAG GGGGAGTGAATCTGAGTGAGGGGGGAGTGAATGTGAGTGAGGGGGACTGA ATCTGAATGACGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTG AGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0025 a0001c0011t0025	a0001c0011t0025g0113 a0001c0011t0025g0114 a0001c0011t0025g0113 a0001c0011t0025g0114	2	330	0.0061	202	c.-11 others(221): Show c.-114-4250_-114-4249insTCTCACTCACATTCACTCCCCCTCAC TCACATTCACTCCCCCGTCATTCAGATTCAGTCCCCCTCACTCACATTCA CTCCCCCCTCACTCAGATTCACTCCCCCTCACTCACATTCACTCCCCCTC ACTCACATTCACTCCCCCCTCACTCACATTCACTCCCCCCCATTCAGATT CACTCCCCCCTACTCACATTCACTCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC8A1_chr2_40092270_40457090	40200222	T T	TTATATAT others(195): Show TTATATATATATAAATATATATATATTTATATATATATATAAATATATAT ATATATTTATATATATATAAATATATATATATATTTATATATATATATAA ATATATATATATATTTATATATATATATAAATATATATATATATTTATAT ATATATATAAATATATATATATTTTTTTATATATATATATAAATATATAT ATA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0134 a0001c0001t0019g0134	1	236	0.0042	202	c.180 others(223): Show c.1809-21730_1809-21729insTATATATATATTTATATATATATA TAAAAAAATATATATATATTTATATATATATATAAATATATATATATATT TATATATATATATAAATATATATATATATTTATATATATATATAAATATA TATATATATTTATATATATATAAATATATATATATATTTATATATATATA TAAATATATATATATTTATATATATATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC9A9_chr3_143260222_143853468	143352546	C C	CACAGTGC others(195): Show CACAGTGCCAGTCACTATTGGCGAGAGGCTGCTCCATGAAGCTGAGCGTG GCTCGTGGGCTGGTGGCATTCTAGTTTATTGGTTTAAGAACAAAAACAAC TTTTTATTTGAAAATGAATTGCAATTCAGATATTTTTGTTAGATTAGTTA AAACCTTTTGTTAGATTAGTTGAAATTCTCCAGTTTCTGACTATGGACAG GAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01884.hp2 HG02258.hp2 others(15): Show HG01255.hp2 HG01884.hp2 HG02258.hp2 HG02451.hp2 HG02622.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02897.hp2 HG03098.hp2 HG03195.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19240.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0013 a0003c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0003t0004 a0001c0004t0012 a0001c0005t0012 a0001c0013t0004 a0003c0006t0005 a0003c0006t0022	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0082 others(15): Show a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0082 a0001c0001t0004g0040 a0001c0001t0006g0106 a0001c0001t0015g0105 a0001c0002t0001g0075 a0001c0002t0003g0005 a0001c0002t0004g0086 a0001c0002t0005g0092 a0001c0002t0006g0102 a0001c0002t0008g0039 a0001c0003t0004g0095 a0001c0004t0012g0101 a0001c0005t0012g0097 a0001c0013t0004g0079 a0003c0006t0005g0008 a0003c0006t0022g0108	18	108	0.1667	202	c.160 others(223): Show c.1604+10937_1604+10938insTTCCTGTCCATAGTCAGAAACTGG AGAATTTCAACTAATCTAACAAAAGGTTTTAACTAATCTAACAAAAATAT CTGAATTGCAATTCATTTTCAAATAAAAAGTTGTTTTTGTTCTTAAACCA ATAAACTAGAATGCCACCAGCCCACGAGCCACGCTCAGCTTCATGGAGCA GCCTCTCGCCAATAGTGACTGGCACTGT	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	14/15			chr3	TogoVar

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Search Results (Total: 10000 hits)