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
RIMS2_chr8_103495610_104259430	103840433	T T	TGGTAATT others(295): Show TGGTAATTCATTTATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0007 a0003c0006t0007	a0003c0006t0007g0172 a0003c0006t0007g0172	1	172	0.0058	302	c.831 others(321): Show c.831-44848_831-44847insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGGGTAATTCATTTATTTT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMS2_chr8_103495610_104259430	103840433	T T	TGGTAATT others(295): Show TGGTAATTCATTTATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0147 a0003c0006t0003g0147	1	172	0.0058	302	c.831 others(321): Show c.831-44848_831-44847insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGGGTAATTCATTTATTTT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(295): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATAAAATATATATATATAATATATATATATAAAATA TATATATATAATATATATATATAAAATATATATATAAAATATATATATAT AATATATATATATAAAATATATATATAAAATATATATATATAATATATAT ATAAAATATATATATATAATATATATATATAAAATATATATAAAATATAT ATATAATATATATATAAAATATATATATAATATATATATAATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0223 a0002c0002t0001g0223	1	410	0.0024	302	c.67- others(315): Show c.67-812_67-811insTATATATATATATTATATATATATTATATATA TATTTTATATATATATTATATATATATTTTATATATATTTTATATATATA TATTATATATATATATTTTATATATATATTATATATATATATTTTATATA TATATTTTATATATATATATTATATATATATATTTTATATATATATTTTA TATATATATATTATATATATATATTTTATATATATATATTATATATATAT ATTTTATATATATATTATATATATATATTTTATATATATATATTATATAT ATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RNF17_chr13_24759169_24884921	24882039	C C	CATCTATA others(295): Show CATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTA TATAGATATATAGATACATCTATATAGATATATAGATACATCTATATATA GATACATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAGA TATATAGATACATCTATATAGATATATAGATACATCTATATAGATATATA GATACATCTATATAGATATATAATCTATATAGATACATCTATATAGATAT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02258.hp2 HG02451.hp2	a0004 a0004	a0004c0004 a0004c0028 a0004c0004 a0004c0028	a0004c0004t0002 a0004c0028t0002 a0004c0004t0002 a0004c0028t0002	a0004c0004t0002g0167 a0004c0028t0002g0136 a0004c0004t0002g0167 a0004c0028t0002g0136	2	426	0.0047	302	c.23 others(313): Show c.2313_*2314insATCTATATAGATATATAGATACATCTATATAGAT ATATAGATACATCTATATAGATATATAGATACATCTATATAGATATATAG ATACATCTATATATAGATACATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTAGATATATAGATACATCTATATAGATATATAGATACAT CTATATAGATATATAGATACATCTATATAGATATATAATCTATATAGATA CATCTATATAGATATATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2119		chr13	TogoVar
SARDH_chr9_133658560_133743352	133669212	C C	CTCCCTCT others(295): Show CTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCC TCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTC CCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCC CTCTCCCCTCATCCTCCCTCACCCTCCCTCTCCCTCACCTTCCCTCTCCC TCACCTTCCCTCTCCCTTACCCTCCATCTCCCTCACCCTCCCTCTCCCCT TACCCTCCCTCTCCCTCACCTTCCCTCTCCCTTACCCTCCCTCTCCCTCA CCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01255.hp2 HG02451.hp1 others(8): Show HG01106.hp1 HG01255.hp2 HG02451.hp1 HG02818.hp1 HG02976.hp1 HG03098.hp1 HG03225.hp1 HG03453.hp1 HG06807.hp2 NA19043.hp2 NA19240.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0003c0013 a0003c0017 others(3): Show a0003c0003 a0003c0013 a0003c0017 a0003c0040 a0003c0056 a0004c0067	a0003c0003t0003 a0003c0003t0004 a0003c0013t0004 others(4): Show a0003c0003t0003 a0003c0003t0004 a0003c0013t0004 a0003c0017t0004 a0003c0040t0003 a0003c0056t0004 a0004c0067t0004	a0003c0003t0003g0045 a0003c0003t0003g0158 a0003c0003t0004g0074 others(8): Show a0003c0003t0003g0045 a0003c0003t0003g0158 a0003c0003t0004g0074 a0003c0003t0004g0248 a0003c0013t0004g0023 a0003c0013t0004g0038 a0003c0013t0004g0049 a0003c0017t0004g0005 a0003c0040t0003g0122 a0003c0056t0004g0037 a0004c0067t0004g0238	11	262	0.0420	302	c.249 others(321): Show c.2495+1371_2495+1372insAGGTGAGGGAGAGGGAGGGTAAGGGA GAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAG ATGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGAGGGAGAG GGAGGGTGAGGGAGGATGAGGGGAGAGGGAGGGTAAGGGGAGAGGGAGGG TGAGGGAGATGGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTA AGGGAGAGGGAAGGAGAGAGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAG GGAGAGGGAGGGTAAGGGGAGAGGGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCG5_chr15_32636710_32702092	32662486	T T	TGCTTTTC others(295): Show TGCTTTTCTTTTTCTTTTTCTTTTTCTTTCTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19060.hp2 NA18981.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0098 a0001c0001t0001g0103	2	415	0.0048	302	c.227 others(321): Show c.227-17271_227-17270insTTTCTTTTTCTTTTTCTTTCTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAGCTTTTCTT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C1_chr11_188078_199575	196140	T T	TGGGGGGG others(295): Show TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGACCTT GGTGAGCGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACC TGGTGAGGAGGACATGGGGGGGACCTTGGTGAGCGGACCTGGTGAGGGGA CATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGACC TTGGTGAGGAGGACCTGGTGAGGTGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATAGGGGGACCTTGGTGAGCGGACCTGGTGAGGGG ACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01074.hp1 HG01243.hp2 others(24): Show HG00140.hp1 HG01074.hp1 HG01243.hp2 HG01255.hp2 HG01361.hp1 HG02015.hp2 HG02615.hp2 HG02970.hp2 HG03209.hp2 HG03486.hp1 HG03492.hp1 HG03540.hp1 HG03831.hp1 HG04115.hp1 HG04204.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18946.hp1 NA18956.hp1 NA18982.hp1 NA18990.hp1 NA18998.hp2 NA19055.hp2 NA19056.hp2 NA19076.hp1 NA19085.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0005 a0002c0001t0002g0006 others(2): Show a0002c0001t0002g0001 a0002c0001t0002g0005 a0002c0001t0002g0006 a0002c0001t0002g0017 a0002c0001t0002g0020	27	354	0.0763	302	c.16 others(313): Show c.1690_*1691insGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG ACATAGGGGGACCTTGGTGAGCGGACCTGGTGAGGGGACATGGGGGGGAC CTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGCG GACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGG GGACATGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGTGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGACCTTGGTGAGC GGACCTGGTGAGGGGACA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1566		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1288849	T T	TCCCGTGT others(295): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGT GTCTCTGCTCCATCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	1	290	0.0035	302	c.166 others(319): Show c.1662+833_1662+834insCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGT GTCTCTGCTCCATCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444880	C C	CACATATA others(295): Show CACATATATACGTACGAATATATATACACATATATACGTACGAATATATA TACACATATATACGTACGAATATATATACACATATATACGTACGAATATA TATACACATATATACGTACGAATATATATACACATATATACGTACGAATA TATATACACATATATTCGTACGAATATATATACACATATATTCGTACGAA TATATATACACATATATTCGTACGAATATATATACATATATTCGTACGAA TATACACATATATTCGTACGAATATATATACATATATTCGTACGAATATA TAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	2	290	0.0069	302	c.114 others(321): Show c.1140+1878_1140+1879insATATATATTCGTACGAATATATGTAT ATATATTCGTACGAATATATGTGTATATTCGTACGAATATATGTATATAT ATTCGTACGAATATATGTGTATATATATTCGTACGAATATATGTGTATAT ATATTCGTACGAATATATGTGTATATATATTCGTACGTATATATGTGTAT ATATATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGT ATATATATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGT GTATATATATTCGTACGTATATATGT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(295): Show CATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATATTCCATATATATATATTCCATATATATA TATTCCATATATATATATTCCATATATATATATTCCATATATATATATTC CATATATATATATTCCATATATATATTCCATATATATATATTCCATATAT ATATATTTCATATATATATATTCCATATATATATTCCATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATTCCA TAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0134 a0001c0011t0001g0134	1	324	0.0031	302	c.115 others(319): Show c.115-2706_115-2705insATATGGAATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATATGAAATATATATATATGGAATATATATATATGGAA TATATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATGGAATATATATATATGGAATATATATATATG GAATATATATATATGGAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(295): Show CATATATATATATTCCCTATATATATATTCCATATATATATATTCCCTAT ATATATATTCCATATATATATATTCCCTATATATATATTCCCTATATATA TATTCCATATATATATATTCCATATATATATTCCATATATATATATTCCA TATATATATATTTCATATATATATATTCCATATATATATTCCATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TTCCATATATATATATATATATATATTCCATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18999.hp2 HG00558.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0121 a0001c0001t0001g0122	2	324	0.0062	302	c.115 others(319): Show c.115-2706_115-2705insATATATATATATATATATATATATGGAA TATATATATATATATATATATGGAATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATGGAATATATATATGGAA TATATATATATGAAATATATATATATGGAATATATATATATGGAATATAT ATATGGAATATATATATATGGAATATATATATAGGGAATATATATATAGG GAATATATATATATGGAATATATATATAGGGAATATATATATATGGAATA TATATATAGGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SERAC1_chr6_158104519_158173262	158169680	T T	TGTATATT others(295): Show TGTATATTATATAATATATTGTATATTATATAATATATTGTATATTGTAT ATTATATATAATATATTGTATATTATATATAATATATTGTATATTATATA TAATATATTGTATATTATATATTATATAATATATTGTATATTATATATTA TATAATATATTGTATATTATATAATATATTGTATATTATATATTATATAA TATATTGTATATTATATAATATACAATATATTATATAATATATAATATAC AATATATTATATAATATATAATATACAATATATTATATAATATATAATAT ACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	366	0.0027	302	c.-15 others(313): Show c.-1543_-1542insTGTATATTATATATTATATAATATATTGTATATT ATATATTATATAATATATTGTATATTATATATTATATAATATATTGTATA TTATATAATATACAATATATTATATAATATATAATATACAATATATTATA TAATATACAATATATTATATAATATATAATATACAATATATTATATAATA TATAATATACAATATATTATATATAATATACAATATATTATATATAATAT ACAATATATTATATATAATATACAATATACAATATATTATATAATATACA ATATATTATATAATATAC	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1419		chr6	TogoVar
SKI_chr1_2223319_2315213	2281663	T T	TGGCGGAG others(295): Show TGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGCGGCGG CGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTT CAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAG AGGACGCCCGAGAAGACATGCGGCGGCGGAGATCTTCAGAGAGCGGACGC CCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAG GACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGC GGC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	330	0.0030	302	c.970 others(321): Show c.970-21294_970-21293insAGATGCCCGAGAAGACAGGCGGCGGC GGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATC TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG AGAGGACGCCCGAGAAGACATGCGGCGGCGGAGATCTTCAGAGAGCGGAC GCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAG AGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAG GCGGCGGCGGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLAIN1_chr13_77692687_77769229	77704080	A A	ATACATAT others(295): Show ATACATATGTTTTATATGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAACATATGTATATATATTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTGTATATATACA CATATAAAATATATATACATATGTTTTCTATGTATATATACATAGAAAAT ATG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20300.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0108 a0001c0001t0001g0109	2	300	0.0067	302	c.626 others(319): Show c.626+5559_626+5560insGTATATATACACATATAAAATATATATA CATATGTTTTATATGTGTATATATACACATATAAAATATATATACATATG TTTTATATGTGTATATATACACATATAAAACATATGTATATATATTTTAT ATGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGT ATATATACACATATAAAATATATATACATATGTTTTATATGTGTATATAT ACACATATAAAATATATATACATATGTTTTCTATGTATATATACATAGAA AATATGTACATATGTTTTATATGT	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(295): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA19007.hp1 NA19081.hp1 NA18972.hp2 NA19007.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0059 a0001c0001t0011g0065 a0001c0001t0011g0086 a0001c0001t0011g0059 a0001c0001t0011g0065 a0001c0001t0011g0086	3	182	0.0165	302	c.100 others(321): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(295): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp2 HG02965.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0045 a0001c0001t0029 a0001c0001t0045	a0001c0001t0029g0160 a0001c0001t0045g0165 a0001c0001t0029g0160 a0001c0001t0045g0165	2	182	0.0110	302	c.100 others(321): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLCO3A1_chr15_91848708_92170903	92143399	A A	ATAATATA others(295): Show ATAATATATGTAATATTATATATAATATATATAATATATATTATATATAA TATATATAATATATATATTATATAATATATATAAAAAATATATATTATAT ATAAAAAATATATATTATATAATATATATAAAATATATATATTATATAAT ATATATATAATATATATAAAATATATATATTATATAATATATATATAATA TATATAAAATATATATATTATATAATATATATATAATATATATAAAATAT ATATATTATATAATATATATATAATATATATATATAATATATATAAAATA TAT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18986.hp2 NA19065.hp1 others(2): Show NA18939.hp1 NA18986.hp2 NA19065.hp1 NA19081.hp1 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 a0001c0002 a0001c0004 a0001c0006	a0001c0002t0002 a0001c0004t0004 a0001c0006t0004 a0001c0002t0002 a0001c0004t0004 a0001c0006t0004	a0001c0002t0002g0084 a0001c0004t0004g0042 a0001c0004t0004g0094 others(2): Show a0001c0002t0002g0084 a0001c0004t0004g0042 a0001c0004t0004g0094 a0001c0004t0004g0121 a0001c0006t0004g0041	5	190	0.0263	302	c.151 others(321): Show c.1513-3585_1513-3584insTAATATATGTAATATTATATATAATA TATATAATATATATTATATATAATATATATAATATATATATTATATAATA TATATAAAAAATATATATTATATATAAAAAATATATATTATATAATATAT ATAAAATATATATATTATATAATATATATATAATATATATAAAATATATA TATTATATAATATATATATAATATATATAAAATATATATATTATATAATA TATATATAATATATATAAAATATATATATTATATAATATATATATAATAT ATATATATAATATATATAAAATATAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9			chr15	TogoVar
SLTM_chr15_58874050_58938679	58877171	A A	AAGCTTTT others(295): Show AAGCTTTTAATTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	386	0.0026	302	c.28 others(313): Show c.2827_*2828insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAATTAAAAGCT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding		1878		chr15	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(295): Show TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp1 HG02818.hp1 others(3): Show HG01109.hp2 HG02451.hp1 HG02818.hp1 HG03225.hp2 NA18977.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0005t0008	a0001c0001t0001g0020 a0001c0001t0004g0082 a0001c0001t0008g0080 others(2): Show a0001c0001t0001g0020 a0001c0001t0004g0082 a0001c0001t0008g0080 a0001c0001t0008g0155 a0001c0005t0008g0081	6	380	0.0158	302	c.-13 others(319): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAG TAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATAATGA others(295): Show CATAATGATATATAATATATATCATTATATAACATAATGATATATAATAT ATATCATTATATAACATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01123.hp1 others(2): Show HG00099.hp1 HG00733.hp1 HG01123.hp1 HG01255.hp2 HG02071.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0001c0005 a0003c0039 others(1): Show a0001c0003 a0001c0005 a0003c0039 a0004c0012	a0001c0003t0005 a0001c0003t0011 a0001c0005t0016 others(2): Show a0001c0003t0005 a0001c0003t0011 a0001c0005t0016 a0003c0039t0002 a0004c0012t0030	a0001c0003t0005g0074 a0001c0003t0011g0284 a0001c0005t0016g0106 others(2): Show a0001c0003t0005g0074 a0001c0003t0011g0284 a0001c0005t0016g0106 a0003c0039t0002g0043 a0004c0012t0030g0241	5	356	0.0140	302	c.-11 others(323): Show c.-112+29099_-112+29100insTAATATATATCATTATATAACATA ATGATATATAATATATATCATTATATAACATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(295): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTT TTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGT TGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01192.hp2 HG02145.hp1 others(8): Show HG00099.hp2 HG01192.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02896.hp2 HG03491.hp2 NA18960.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0001c0001t0001 a0001c0001t0003 a0002c0002t0002	a0001c0001t0001g0071 a0001c0001t0003g0325 a0001c0001t0003g0326 others(8): Show a0001c0001t0001g0071 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0333 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0345 a0002c0002t0002g0025 a0002c0002t0002g0028	11	356	0.0309	302	c.245 others(319): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGG CTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAA GGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(295): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTT TTTTTTTTTTTGAGACAGGTCTCGTTTTGTTGCCAAGGCTGGCACGCAGT TGT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0012 a0001c0006t0001g0012	1	356	0.0028	302	c.245 others(319): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGG CTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTTTGTTGCCAA GGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(295): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGGGG GAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG GAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0102 a0007c0008t0001g0102	1	260	0.0039	302	c.138 others(321): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(295): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG GAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0119 a0003c0003t0001g0119	1	260	0.0039	302	c.138 others(321): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(295): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG GAG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0113 a0003c0003t0001g0113	1	260	0.0039	302	c.138 others(321): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(295): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG GAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0017 a0017	a0017c0012 a0017c0012	a0017c0012t0001 a0017c0012t0001	a0017c0012t0001g0121 a0017c0012t0001g0121	1	260	0.0039	302	c.138 others(321): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(295): Show AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG GAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA19088.hp1 HG00408.hp1 NA19088.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0078 a0003c0003t0002g0076 a0003c0003t0001g0078 a0003c0003t0002g0076	2	260	0.0077	302	c.138 others(321): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRMS_chr20_63533489_63552749	63535771	C C	CCTCACCT others(295): Show CCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCTCCTC ACCTGGCCTCCCGCCCCCCCCTCACCTGGCCTCCCACCCCGTCCTCACCT GGCCTCCCGCACCCCCCTCACCTGGCCTCCCGCCCCCCCCCTCATCTGGC CTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCTCCTCTCCTGGCCTCC CGCCCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCG CCCCCTCCTCACCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCCC CCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0023 a0023	a0023c0016 a0023c0016	a0023c0016t0002 a0023c0016t0002	a0023c0016t0002g0042 a0023c0016t0002g0042	1	356	0.0028	302	c.50 others(313): Show c.5046_*5047insAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGCGGG AGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGC CAGGTGAGGGGGGGGGGCGGGAGGCCAGGAGAGGAGGGGGCGGGAGGCCA GGTGAGGAGGGGGCGGGAGGCCAGATGAGGGGGGGGGCGGGAGGCCAGGT GAGGGGGGTGCGGGAGGCCAGGTGAGGACGGGGTGGGAGGCCAGGTGAGG GGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGG GGCGGGAGGCCAGGTGAG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2717		chr20	TogoVar
SRMS_chr20_63533489_63552749	63535799	A A	ACCTGGCC others(295): Show ACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCTCACCT GGCCTCCCACCCCGTCCTCACCTGGCCTCCCGCACCCCCCTCACCTGGCC TCCCGCCCCCCCCTCATCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCC GCCCCCTCCTCTCCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCC CCCTCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCC CCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCTCC TCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0009 a0002c0003t0004g0009	1	356	0.0028	302	c.50 others(313): Show c.5018_*5019insAGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGG CGGGAGGCCAGGTGAGGGGGGGGGGCGGGAGGCCAGGTGAGGAGGGGGCG GGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGCGGGA GGCCAGGAGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCC AGATGAGGGGGGGGCGGGAGGCCAGGTGAGGGGGGTGCGGGAGGCCAGGT GAGGACGGGGTGGGAGGCCAGGTGAGGGGGGGGCGGGAGGCCAGGTGAGG AGGGGGCGGGAGGCCAGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2689		chr20	TogoVar
SS18L1_chr20_62138769_62187514	62166667	A A	ATAATCCC others(295): Show ATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGCCAG GAATTTGAGACCAGCCTGACCAACGTGGCGAAACCCCATCTCTACCAAAA AATACAAATATTAGCTGGCCATGGTGGTGCACGCCTGTAGTCCCAGTTAC TCAGGCGGAGGCGGGAGAATCGCTTAAACCTGGGAAGTGGAGGTTGCAGT GAGCCGAGATCGTGCCACTGCATTCCAGCCTTGCGACAGGATAAGACCCT GTCTCAAAAAAAAAAAAAAAAAAAAATTAGCTCGGTGCATTAGTTCACAC CTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00597.hp2 others(36): Show HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG01099.hp1 HG01106.hp1 HG02056.hp1 HG02074.hp2 HG02165.hp2 HG02572.hp2 HG02602.hp2 HG02738.hp1 HG02965.hp1 HG03130.hp1 HG03471.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp2 NA18961.hp1 NA18971.hp1 NA18981.hp1 NA18982.hp1 NA18985.hp1 NA18999.hp1 NA19000.hp1 NA19054.hp1 NA19056.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp2 NA19087.hp1 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0002 a0001c0001t0019 a0003c0008t0002 a0001c0001t0002 a0001c0001t0019 a0003c0008t0002	a0001c0001t0002g0123 a0001c0001t0002g0127 a0001c0001t0002g0149 others(36): Show a0001c0001t0002g0123 a0001c0001t0002g0127 a0001c0001t0002g0149 a0001c0001t0002g0183 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0298 a0001c0001t0019g0240 a0003c0008t0002g0232 a0003c0008t0002g0269	39	316	0.1234	302	c.916 others(319): Show c.916+1168_916+1169insGGGAGGCCAAGGCAGGCGGATCACTTGA GGCCAGGAATTTGAGACCAGCCTGACCAACGTGGCGAAACCCCATCTCTA CCAAAAAATACAAATATTAGCTGGCCATGGTGGTGCACGCCTGTAGTCCC AGTTACTCAGGCGGAGGCGGGAGAATCGCTTAAACCTGGGAAGTGGAGGT TGCAGTGAGCCGAGATCGTGCCACTGCATTCCAGCCTTGCGACAGGATAA GACCCTGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCTCGGTGCATTAGT TCACACCTGTAATCCCAGCACTTT	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18L1_chr20_62138769_62187514	62166667	A A	ATAATCCC others(295): Show ATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGCCAG GAATTTGAGACCAGCCTGACCAACGTGGCGAAACCCCATCTCTACCAAAA AATACAAATATTAGCTGGCCATGGTGGTGCACGCCTGTAGTCCCAGTTAC TCAGGCGGAGGCGGGAGAATCGCTTAAACCTGGGAAGTGGAGGTTGCAGT GAGCCGAGATTGTGCCACTGCATTCCAGCCTTGCGACAGGATAAGACCCT GTCTCAAAAAAAAAAAAAAAAAAAAATTAGCTCGGTGCATTAGTTCACAC CTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp1 HG01255.hp2 others(11): Show HG01081.hp2 HG01243.hp1 HG01255.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02717.hp2 HG02886.hp2 HG02965.hp2 HG03471.hp1 HG03486.hp1 NA18906.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0002c0006 others(2): Show a0001c0004 a0002c0003 a0002c0006 a0002c0007 a0002c0013	a0001c0004t0001 a0002c0003t0005 a0002c0003t0009 others(3): Show a0001c0004t0001 a0002c0003t0005 a0002c0003t0009 a0002c0006t0007 a0002c0007t0011 a0002c0013t0009	a0001c0004t0001g0173 a0002c0003t0005g0196 a0002c0003t0005g0201 others(11): Show a0001c0004t0001g0173 a0002c0003t0005g0196 a0002c0003t0005g0201 a0002c0003t0005g0202 a0002c0003t0005g0216 a0002c0003t0009g0200 a0002c0003t0009g0213 a0002c0006t0007g0219 a0002c0006t0007g0221 a0002c0006t0007g0222 a0002c0007t0011g0179 a0002c0007t0011g0180 a0002c0007t0011g0191 a0002c0013t0009g0030	14	316	0.0443	302	c.916 others(319): Show c.916+1168_916+1169insGGGAGGCCAAGGCAGGCGGATCACTTGA GGCCAGGAATTTGAGACCAGCCTGACCAACGTGGCGAAACCCCATCTCTA CCAAAAAATACAAATATTAGCTGGCCATGGTGGTGCACGCCTGTAGTCCC AGTTACTCAGGCGGAGGCGGGAGAATCGCTTAAACCTGGGAAGTGGAGGT TGCAGTGAGCCGAGATTGTGCCACTGCATTCCAGCCTTGCGACAGGATAA GACCCTGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCTCGGTGCATTAGT TCACACCTGTAATCCCAGCACTTT	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
SSU72_chr1_1536673_1579863	1543725	C C	CCTCTGTC others(295): Show CCTCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCTCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCTCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03579.hp1 NA20300.hp2 HG03486.hp1 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130	3	386	0.0078	302	c.483 others(317): Show c.483+143_483+144insAGGGGAGTGGCCGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAGGGG AGTGGCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAGGGG AGTGGCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGAG	SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	4/4			chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43904942	C C	CCTCCCCC others(295): Show CCTCCCCCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCACCTGC TGCTCCTCTTCCCGCCACTCTTCCTCCCCCGCCTGCTGCTCCTCTTCCCA CCACTCTCCCTCCCTCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCT CCTCCTGCTCGTCTTCCTGCCACTCTTCCTCCCTCTCCTCCTGTTCCTCT TCCTGCCACTCTTTCCCCTCCTCCTGCTCCTATTCCTGCCACTCTTCCTT CCCTTCCTCCTGCTCCTATTCCTGCCACTCTCCCTTCCCCTCCTCCTGCT CCT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	274	0.0037	302	c.744 others(319): Show c.744+5217_744+5218insCCCCCTCCTCCTGCTCCTCTTCCCGCCA CTCTTCCTCCCCCACCTGCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCG CCTGCTGCTCCTCTTCCCACCACTCTCCCTCCCTCTCCTGCTCCTCTTCC CGCCACTCTTCCTCCCCCTCCTCCTGCTCGTCTTCCTGCCACTCTTCCTC CCTCTCCTCCTGTTCCTCTTCCTGCCACTCTTTCCCCTCCTCCTGCTCCT ATTCCTGCCACTCTTCCTTCCCTTCCTCCTGCTCCTATTCCTGCCACTCT CCCTTCCCCTCCTCCTGCTCCTCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76390943	T T	TGTATTTT others(295): Show TGTATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0076 a0002c0002t0011g0076	1	102	0.0098	302	c.214 others(321): Show c.214-21051_214-21050insTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCGTATTTTTTTTTTT	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(295): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATGTATATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	188	0.0053	302	c.152 others(321): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATGTATATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(295): Show TGTATATATATGTATATATGTGTATATGTGTGTATATATATGTATATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGAGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATACACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	188	0.0053	302	c.152 others(321): Show c.152-68383_152-68382insGTATATATATGTATATATGTGTATAT GTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGAGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGAGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATACACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(295): Show TGTATATATATGTATATATGTGTATATGTGTGTATATATATGTATATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGAGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	188	0.0053	302	c.152 others(321): Show c.152-68383_152-68382insGTATATATATGTATATATGTGTATAT GTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGAGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGAGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
STMN3_chr20_63634712_63658424	63642015	C C	CCCCCGCC others(295): Show CCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCACCCTGGCCCCGCCCCC GCCCAGTGCCCCGCCCCCTGCCCGCTCCGAGCTCCGCCCCGGCCCCGCCC CGGCCCAGTGCCCCGCCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGG CCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCCC GCCCCCTGCCTGCTGCTTGCCCTGCCCCCTCCCCGGCCCCTGCCCGCTCC GAGCTCCGCCCCGGCCTCGCCCCGGCCCCTGCCCGCTCCGAGCTTCGCCC CGG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0047 a0001c0001t0006g0047	1	388	0.0026	302	c.483 others(315): Show c.483+92_483+93insCCGGGGCGAAGCTCGGAGCGGGCAGGGGCCGG GGCGAGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGAGGGGGCAG GGCAAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGC GGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGC AGGGGGCGGGGCACTGGGCCGGGGCGGGGCCGGGGCGGAGCTCGGAGCGG GCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGTGGAGCTCGGAGC GGGCAGGGGCCGGGGCGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
STX8_chr17_9245471_9580820	9429837	A A	ATATATAA others(295): Show ATATATAATATATTATATATAATATATTATGTATTATATATAATATACAT AATATATATAATATATTATATATATTATATATAATATATATTATATATTA TATATATAATATATTATATATAATATATATAATATATATTATATATATTA TATAATATATATAATATATTATATATTATATAATATATATAATATATTAT ATATTATATATATTATATATTATATAGAATATATTATATATTATATATAT AATATATTCTATATAATATATATTATATATTATATATTATATATAATATA TTC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG04228.hp2 HG03710.hp1 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0020 a0001c0002t0002g0026 a0001c0002t0001g0020 a0001c0002t0002g0026	2	188	0.0106	302	c.542 others(321): Show c.542-51185_542-51184insGAATATATTATATATAATATATAATA TATAATATATATTATATAGAATATATTATATATATAATATATAATATATT CTATATAATATATAATATATATAATATATAATATATTATATATATTATAT AATATATAATATATTATATATATTATATAATATATATAATATATATTATA TATATTATATATAATATATTATATATATAATATATAATATATATTATATA TAATATATATAATATATTATATATATTATGTATATTATATATAATACATA ATATATTATATATAATATATTATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
SUCO_chr1_172528150_172616833	172572016	C C	CCGGGAGG others(295): Show CCGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCCCGGCCAGCCGCCCCGTC TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCTGCCTGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGAAGCCCCTCTGCCCGGCCAGCCGC CCCCTCTGGGAAGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCC CAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0219 a0001c0001t0008g0219	1	340	0.0029	302	c.104 others(321): Show c.1049+1314_1049+1315insGGCCCGGCCAGCCGCCCCGTCTGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCTGCCTGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGAAGCCCCTCTGCCCGGCCAGCCGCCCCCT CTGGGAAGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATCG GGAGGGAGGTGGGGGGGTCAGCCCCC	SUCO	ENSG00000094975.15	transcript	ENST00000263688.4	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
SYNPR_chr3_63273308_63621924	63313900	C C	CATATATA others(295): Show CATATATATATCCATATATATATATCCATATATATATCCATATATATATA TCCATATATATATCCATATATATATATCCATATATATATCCATATATATA TATCCATATATATATCCATATATATATATCCATATATATATCCATATATA TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATATCCA TAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18955.hp2 HG02145.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0079 a0001c0001t0002g0050 a0001c0001t0001g0079 a0001c0001t0002g0050	2	246	0.0081	302	c.84+ others(319): Show c.84+35182_84+35183insCCATATATATATCCATATATATATATCC ATATATATATCCATATATATATATCCATATATATATCCATATATATATAT CCATATATATATCCATATATATATATCCATATATATATCCATATATATAT ATATCCATATATATATATATCCATATATATATATATCCATATATATATAT CCATATATATATATATCCATATATATATATATCCATATATATATATCCAT ATATATATATATCCATATATATATATATCCATATATATATATATCCATAT ATATATATATCCATATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT1_chr12_78859774_79457008	79178953	T T	TATCTATA others(295): Show TATCTATATAGATATAGATATAGATATATCTATATAGATATAGATATAGA TATATCTATATAGATATAGATATAGATATATCTATATAGATATAGATATA GATATATCTATATAGATATAGATATAGATATATCTATATAGATATAGATA TAGATATAGATATATCTATATAGATATAGATATAGATATAGATATATCTA TATAGATATAGATATAGATATATCTATATCGATATAGATATAGATATATC TATATCGATATAGATATATCTATATCTATATCGATATAGATATATAGATA TAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0015 a0001c0002t0012g0015	1	62	0.0161	302	c.-17 others(321): Show c.-17-38549_-17-38548insTCTATATAGATATAGATATAGATATA TCTATATAGATATAGATATAGATATATCTATATAGATATAGATATAGATA TATCTATATAGATATAGATATAGATATATCTATATAGATATAGATATAGA TATATCTATATAGATATAGATATAGATATAGATATATCTATATAGATATA GATATAGATATAGATATATCTATATAGATATAGATATAGATATATCTATA TCGATATAGATATAGATATATCTATATCGATATAGATATATCTATATCTA TATCGATATAGATATATAGATATAGA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
TCF3_chr19_1604292_1657615	1628529	C C	CGGGGTGA others(295): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC GGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGG GGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCA CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGA AGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	352	0.0028	302	c.299 others(319): Show c.299-1104_299-1103insTGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCC TCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTC TGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628597	C C	CGGGGTGA others(295): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCAC GGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGC TCA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0087 a0002c0001t0087	a0002c0001t0087g0291 a0002c0001t0087g0291	1	352	0.0028	302	c.299 others(319): Show c.299-1172_299-1171insTGAGCTCTGCTGTCCCCTTCCCACCTCA CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCCC ACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCT GCTGTCCCCTTCCTGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCAC CTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1272927	A A	ACATCAGA others(295): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCAC CACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCACAA CCGCCATCCACAGTCACATCAGACCCCCACAACCGCCATCCACAGTCACC ACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACATCAGACCCCCACAACCGCCATCCACAGT CAC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	392	0.0026	302	c.228 others(319): Show c.2287-648_2287-647insGTGACTGTGGATGGCGGTTGTGGGGGTC TGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGG GGTCTGATGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGACTGTGGA TGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THBS3_chr1_155190588_155212897	155190951	G G	GTGTCCGG others(295): Show GTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCG GGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCG GTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGC TGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGA CACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGG GCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCT GCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG02738.hp1 HG00323.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0002 a0001c0001t0001g0006	2	298	0.0067	302	c.48 others(313): Show c.4889_*4890insAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAG CCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACC GCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCC GGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCA GGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCC CCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTG TCACCTCGGCCCCGGACA	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4636		chr1	TogoVar
THBS3_chr1_155190588_155212897	155191072	G G	GTCCGGGG others(295): Show GTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGG GCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGG TGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCT GCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGAC ACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGG CCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTG CTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	298	0.0034	302	c.47 others(313): Show c.4768_*4769insGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCA GCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCAC CGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCC CGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGC AGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGG CCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGG TGTCACCTCGGCCCCGGA	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4515		chr1	TogoVar
TH_chr11_2158929_2176815	2161579	G G	GACCCCTG others(295): Show GACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCC CTGTGCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGGACCCCTGTCCC CACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC GGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCC CAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02155.hp2 NA18947.hp2 HG00639.hp1 HG02155.hp2 NA18947.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0001c0003t0001 a0002c0001t0001	a0001c0003t0001g0004 a0002c0001t0001g0001 a0001c0003t0001g0004 a0002c0001t0001g0001	3	388	0.0077	302	c.26 others(313): Show c.2653_*2654insGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGG GACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGG GTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGG GACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGG GTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGAG GACAGGGGTGTGGGCACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGG GGTCCTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2349		chr11	TogoVar
TH_chr11_2158929_2176815	2161579	G G	GACCCCTG others(295): Show GACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCC CTGTGCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGGACCCCTGTCCC CACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCC CACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCC CAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0021 a0001c0003t0001g0021	1	388	0.0026	302	c.26 others(313): Show c.2653_*2654insGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGG GACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGG GTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGG GACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGG GTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGAG GACAGGGGTGTGGGCACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGG GGTCCTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2349		chr11	TogoVar
TMEM132B_chr12_125181386_125667369	125612926	T T	TTGTATAA others(295): Show TTGTATAAAAATATATATATCATATATATTTATATATTATATAAAAATAT ATATCATATATATTTATATATTATATAAATATATATATCATATATATTTA TATATTATATATTATATATTTATATTTTATTTTTATATTTATATTATATA TATTTTTTATATTTATATTTATATATTATTATATTATATTTATATATTAT ATAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCA TATATATTTATATATTATATAAAAATATATATCATATATATTTATATATT ATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0011 a0002c0022t0011	a0002c0022t0011g0092 a0002c0022t0011g0092	1	128	0.0078	302	c.143 others(323): Show c.1437+28933_1437+28934insGTATAAAAATATATATATCATATA TATTTATATATTATATAAAAATATATATCATATATATTTATATATTATAT AAATATATATATCATATATATTTATATATTATATATTATATATTTATATT TTATTTTTATATTTATATTATATATATTTTTTATATTTATATTTATATAT TATTATATTATATTTATATATTATATAAAAATATATATCATATATATTTA TATATTATATAAAAATATATATCATATATATTTATATATTATATAAAAAT ATATATCATATATATTTATATATTATAT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar

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Search Results (Total: 10000 hits)