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	status	chr	external
SEMA3A_chr7_83950777_84199789	84086468	T T	TATATTAT others(299): Show TATATTATTATATTATATTTACATATAATATATTATTATATTATATTTAC ATATAATATATTATTATATTATATTTACATATAATATATTATTATATTAT ATTTACATATAATATATTATTATATTATATTTACATATAATATATTATTA TATTATATTTACATATAATATATTATTATATTATATTTACATATAATATA TTATTATATTATATTTACATATAATATATTATTATATTATATTTACATAT AATATATTATTATATTATATTTACATATAATATATTATTATATTATATTT ACATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18906.hp2 HG03209.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0006 a0001c0004t0016 a0001c0003t0006 a0001c0004t0016	a0001c0003t0006g0151 a0001c0004t0016g0217 a0001c0003t0006g0151 a0001c0004t0016g0217	2	276	0.0073	306	c.453 others(325): Show c.453+24001_453+24002insTATATGTAAATATAATATAATAATAT ATTATATGTAAATATAATATAATAATATATTATATGTAAATATAATATAA TAATATATTATATGTAAATATAATATAATAATATATTATATGTAAATATA ATATAATAATATATTATATGTAAATATAATATAATAATATATTATATGTA AATATAATATAATAATATATTATATGTAAATATAATATAATAATATATTA TATGTAAATATAATATAATAATATATTATATGTAAATATAATATAATAAT ATATTATATGTAAATATAATATAATAATAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16		chr7	TogoVar
SERINC2_chr1_31408213_31439678	31431776	A A	AATAGGGT others(299): Show AATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG TTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGG TGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGAT AGGGTGG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0158 a0002c0002t0008g0158	1	376	0.0027	306	c.101 others(325): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGG TGGTTAGGGTGGATAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9	INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432146	A A	ATAGGGTG others(299): Show ATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGG GTGGATAGGATGGTTAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGA TAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGTTAGGGTGGAGAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAG AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATA GGATGGT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0203 a0001c0004t0010g0203	1	376	0.0027	306	c.101 others(323): Show c.1014-821_1014-820insTAGGGTGGATAGGGTGGAGAGGGTGGAT AGGGTGGAGAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGACAGGGT GGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACA GGGTGGTTAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGATAGGGTG GAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGG ATAGGGTGGATAGGGTGGATAGGATGGT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432174	T T	TAGGGTGG others(299): Show TAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGTTAGGG TGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGT GGTTAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGACA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTG GATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAG GGTGGAC	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0091 a0001c0003t0002g0091	1	376	0.0027	306	c.101 others(323): Show c.1014-777_1014-776insATAGGATGGTTAGGGTGGATAGGGTGGT TAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGAT AGGGTGGTTAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGATAGGGT GGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGA GGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTG GATAGGGTGGACAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9	INFO_REALIGN_3_PRIME	chr1	TogoVar
SF3A3_chr1_37951975_37995022	37967099	T T	TAGAAAAA others(299): Show TAGAAAAATTAGACCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTT TGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCGAGACCATTCT GGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAAATAGCT GGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAATGAGGCAGG AGAATGGCGTGAACCCGGGAGGTGGAGCGTGCAGTGAGCCAAGATCGCGC CACTGCACTCCAGCCTGGGGACAGAGCGACACTCCGTCTCAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	400	0.0025	306	c.137 others(323): Show c.1372+944_1372+945insTTTTTTTTTTTTTTTTTGAGACGGAGTG TCGCTCTGTCCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCA CGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCATTCCCGAGTAGC TGGGACTGCAGGCGCCCGCCACCACGCCCAGCTATTTTTTTTGTATTTTT AGTAGAGACGAGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGA CCTCGTGATCCACCCGTCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGT GAGCCACCGCGCCCGGTCTAATTTTTCT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16		chr1	TogoVar
SH3D19_chr4_151115281_151330605	151256013	G G	GGGGAGAG others(299): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0242 a0007c0008t0001g0242	1	282	0.0036	306	c.113 others(325): Show c.113-29928_113-29927insTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	1/19		chr4	TogoVar
SHISA5_chr3_48462876_48509174	48486239	C C	CATATATT others(299): Show CATATATTATATACTATATATATATTATATATATTATATATTATATACTA TATATATTATATATACTATAGTATATATTATATAATATATATAATATAGT ATATATTATATAATATATATAATATAGTATATATTATATAATATATACTA TATTATATATAGTATATAATACATTATATGTTATATAACATATAATGTAT TATATATAATATATAATACATTATATGTTATATAACATATAATGTATTAT ATATTATATGTTATATAATATATAATACATTATATGTTATATAACATATA ATGTATT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp2 HG02559.hp1 others(10): Show HG02055.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02698.hp1 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(10): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072	13	290	0.0448	306	c.234 others(323): Show c.234-6983_234-6982insAATACATTATATGTTATATAACATATAA TGTATTATATATTATATAACATATAATATATAATACATTATATGTTATAT AACATATAATGTATTATATATTATATATAATACATTATATGTTATATAAC ATATAATGTATTATATACTATATATAATATAGTATATATTATATAATATA TACTATATTATATATATTATATAATATATACTATATTATATATATTATAT AATATATACTATAGTATATATAATATATATAGTATATAATATATAATATA TATAATATATATATAGTATATAATATAT	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5		chr3	TogoVar
SHQ1_chr3_72744277_72853445	72809070	T T	TGGAAATT others(299): Show TGGAAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp1 HG02615.hp1 HG02717.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0207 a0008c0007t0001g0208 a0008c0007t0001g0207 a0008c0007t0001g0208	2	222	0.0090	306	c.106 others(325): Show c.1060+3600_1060+3601insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAATTTCC	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	9/10		chr3	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(299): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0158 a0001c0001t0063g0158	1	182	0.0055	306	c.100 others(325): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7	INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC39A11_chr17_72640949_73097688	72895041	T T	TAAAACAG others(299): Show TAAAACAGAAGAATGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0079 a0001c0001t0017g0079	1	180	0.0056	306	c.431 others(325): Show c.431-45238_431-45237insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGACCATTCTTCTGTTTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	5/9		chr17	TogoVar
SLCO3A1_chr15_91848708_92170903	92047039	T T	TAAATATA others(299): Show TAAATATATATATAATATATAAATATATATATATAAATATATATATAATA TATAAATATATATATATAAATATATATAATATATAAATATATATATAAAT ATATAATATATAAATATATATACAAATATATATATAATATATAAATATAT ACAAATATATATATAATATATAAATATATATACAAATATATATATAATAT ATAAATATATATACAAATATATATATAATATATAAATATATATACAAATA TATATATAATATATAAATATATATACAAATATATATATAATATATAAATA TATATAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01099.hp1 HG01168.hp2 others(2): Show HG00323.hp2 HG01099.hp1 HG01168.hp2 HG02683.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0147 a0001c0001t0002g0074 a0001c0001t0002g0088 others(2): Show a0001c0001t0001g0147 a0001c0001t0002g0074 a0001c0001t0002g0088 a0001c0001t0003g0053 a0001c0001t0006g0157	5	190	0.0263	306	c.647 others(325): Show c.647-47812_647-47811insTATAAATATATATATAATATATAAAT ATATATATATAAATATATATAATATATAAATATATATATAAATATATAAT ATATAAATATATATACAAATATATATATAATATATAAATATATACAAATA TATATATAATATATAAATATATATACAAATATATATATAATATATAAATA TATATACAAATATATATATAATATATAAATATATATACAAATATATATAT AATATATAAATATATATACAAATATATATATAATATATAAATATATATAC AAATATATATATAATATATAAATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9	INFO_REALIGN_3_PRIME	chr15	TogoVar
SLIT3_chr5_168656740_169306139	168718163	C C	CAAAAGTG others(299): Show CAAAAGTGGAATAGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0011 a0001c0038t0011	a0001c0038t0011g0066 a0001c0038t0011g0066	1	132	0.0076	306	c.248 others(325): Show c.2483+4092_2483+4093insTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCTCTATTCCACTTTT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	23/35		chr5	TogoVar
SMOC2_chr6_168436184_168672992	168593058	T T	TCCGAGCT others(299): Show TCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGAT GGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCGCGGGCATCTTTCTAGAGG ATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCGCGGGCATCTTTCTAGAG GATCTCCGAGCTCCTCCTTCTTCCTGAGGCCTCACGGGCATCTTTCTAGA GGATCTCCAAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAG AGGATGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02809.hp1 others(4): Show HG01884.hp2 HG01891.hp1 HG02809.hp1 HG02976.hp2 HG03209.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0002t0014 a0001c0008t0002	a0001c0001t0001g0077 a0001c0001t0001g0114 a0001c0001t0006g0128 others(4): Show a0001c0001t0001g0077 a0001c0001t0001g0114 a0001c0001t0006g0128 a0001c0002t0002g0004 a0001c0002t0002g0036 a0001c0002t0014g0005 a0001c0008t0002g0042	7	180	0.0389	306	c.638 others(323): Show c.638-5729_638-5728insAGCATCTTTCTAGAGGATGGCCGAGCTC CTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCT CCTCCTCCTTCCTGAGGCCTCGCGGGCATCTTTCTAGAGGATCTCCGAGC TCCTCCTCCTTCCTGAGGCCTCGCGGGCATCTTTCTAGAGGATCTCCGAG CTCCTCCTTCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCAA GCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATGGCCG AGCTCCTCCTCCTTCCTGAGGCCTCACG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12	INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594183	T T	TCCGAGCT others(299): Show TCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGAT CGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGG ATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCGCGAGCATCTTTCTAGAG GATCTCCGAGCTCCTCCTTCTTCCTGAGGCCTCACGGGCATCTTTCTAGA GGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAG AGGATGG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	180	0.0056	306	c.638 others(323): Show c.638-4604_638-4603insAGCATCTTTCTAGAGGATCGCCGAGCTC CTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCT CCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGC TCCTCCTCCTTCCTGAGGCCTCGCGAGCATCTTTCTAGAGGATCTCCGAG CTCCTCCTTCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGA GCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATGGCCG AGCTCCTCCTCCTTCCTGAGGCCTCACG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12	INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594183	T T	TCCGAGCT others(299): Show TCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGAT CGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGG ATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCGCGGGCATCTTTCTAGAG GATCTCCGAGCTCCTCCTTCTTCCTGAGGCCTCACGGGCATCTTTCTAGA GGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAG AGGATGG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02135.hp2 HG02572.hp2 others(21): Show HG01361.hp1 HG02135.hp2 HG02572.hp2 HG02735.hp1 HG02809.hp2 HG03654.hp2 HG04204.hp2 HG04228.hp2 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18960.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA19000.hp2 NA19012.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0002t0002 a0001c0002t0007	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0089 others(21): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0003g0087 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0003g0171 a0001c0001t0011g0119 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0012 a0001c0002t0002g0054 a0001c0002t0002g0064 a0001c0002t0007g0016	24	180	0.1333	306	c.638 others(323): Show c.638-4604_638-4603insAGCATCTTTCTAGAGGATCGCCGAGCTC CTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCT CCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGC TCCTCCTCCTTCCTGAGGCCTCGCGGGCATCTTTCTAGAGGATCTCCGAG CTCCTCCTTCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGA GCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATGGCCG AGCTCCTCCTCCTTCCTGAGGCCTCACG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12	INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594183	T T	TCCGAGCT others(299): Show TCCGAGCTCCTCCTCCTTCCTGAGGCCTCATGAGCATCTTTCTAGAGGAT CGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGG ATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCGCGGGCATCTTTCTAGAG GATCTCCGAGCTCCTCCTTCTTCCTGAGGCCTCACGGGCATCTTTCTAGA GGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAG AGGATGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp1 HG01978.hp1 others(1): Show HG00609.hp2 HG01069.hp1 HG01978.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0003g0090 others(1): Show a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0003g0090 a0001c0001t0003g0109	4	180	0.0222	306	c.638 others(323): Show c.638-4606_638-4605insTGAGCATCTTTCTAGAGGATCGCCGAGC TCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAG CTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGA GCTCCTCCTCCTTCCTGAGGCCTCGCGGGCATCTTTCTAGAGGATCTCCG AGCTCCTCCTTCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCC GAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATGGC CGAGCTCCTCCTCCTTCCTGAGGCCTCA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12	INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594906	G G	GCCGAGCT others(299): Show GCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGGAT CTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TCGCCGAGCTCCTCCTCCTTCCTAAGGCCTCATGGGCATCTTTCTAGAGG ATCGCGGAGCTCCTCCTCATTCCTGAGGCCTCATGGGCATCTTTCTAGAG GATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGA GGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACTGGCATCTTTCTAG AGGATCT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0163 a0001c0001t0015g0163	1	180	0.0056	306	c.638 others(323): Show c.638-3899_638-3898insTCCTAAGGCCTCACAAGGGGCATCTTTC TAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTT CTAGAGGATCGCCGAGCTCCTCCTCCTTCCTAAGGCCTCATGGGCATCTT TCTAGAGGATCGCGGAGCTCCTCCTCATTCCTGAGGCCTCATGGGCATCT TTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGGGCATC TTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACTGGCAT CTTTCTAGAGGATCTCCGAGCTCCTCCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12	INFO_REALIGN_3_PRIME	chr6	TogoVar
SNRNP70_chr19_49080451_49113604	49092919	T T	TTTGTTTT others(299): Show TTTGTTTTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCG GGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	366	0.0027	306	c.265 others(323): Show c.265+2412_265+2413insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCTTGTTTTGTTCTT	SNRNP70	ENSG00000104852.15	transcript	ENST00000598441.6	protein_coding	4/9	INFO_REALIGN_3_PRIME	chr19	TogoVar
SNTG2_chr2_945849_1372613	1199166	T T	TAAAAAGG others(299): Show TAAAAAGGTAACACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAAGAGAATGGCGTGAACCTGGGAGGCGGAGCGTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0014 a0014	a0014c0035 a0014c0035	a0014c0035t0001 a0014c0035t0001	a0014c0035t0001g0071 a0014c0035t0001g0071	1	190	0.0053	306	c.592 others(323): Show c.592-9924_592-9923insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAAGAGAATGGCGTGAACCTGGGAGGCGGAGCGTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAGGTAACAC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	8/16	INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1199166	T T	TAAAAAGG others(299): Show TAAAAAGGTAACACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAAGAGAATGGCGTGAACCTGGGAGGCGGAGCGTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01261.hp1 HG01517.hp1 others(18): Show HG01106.hp1 HG01261.hp1 HG01517.hp1 HG01891.hp2 HG02109.hp1 HG02165.hp2 HG02451.hp2 HG02486.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 NA18522.hp2 NA18969.hp1 NA19000.hp1 NA19043.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0007 a0017 a0019 a0020 a0021	a0001c0002 a0003c0007 a0003c0008 others(9): Show a0001c0002 a0003c0007 a0003c0008 a0003c0026 a0005c0006 a0007c0016 a0007c0017 a0007c0024 a0017c0031 a0019c0025 a0020c0032 a0021c0030	a0001c0002t0001 a0001c0002t0002 a0003c0007t0001 others(10): Show a0001c0002t0001 a0001c0002t0002 a0003c0007t0001 a0003c0008t0001 a0003c0026t0001 a0005c0006t0001 a0007c0016t0001 a0007c0017t0001 a0007c0024t0002 a0017c0031t0001 a0019c0025t0001 a0020c0032t0001 a0021c0030t0001	a0001c0002t0001g0041 a0001c0002t0001g0069 a0001c0002t0001g0133 others(18): Show a0001c0002t0001g0041 a0001c0002t0001g0069 a0001c0002t0001g0133 a0001c0002t0002g0002 a0003c0007t0001g0055 a0003c0007t0001g0108 a0003c0007t0001g0184 a0003c0008t0001g0106 a0003c0008t0001g0190 a0003c0026t0001g0097 a0005c0006t0001g0019 a0007c0016t0001g0005 a0007c0016t0001g0033 a0007c0016t0001g0135 a0007c0017t0001g0105 a0007c0017t0001g0118 a0007c0024t0002g0073 a0017c0031t0001g0110 a0019c0025t0001g0034 a0020c0032t0001g0059 a0021c0030t0001g0160	21	190	0.1105	306	c.592 others(323): Show c.592-9924_592-9923insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAAGAGAATGGCGTGAACCTGGGAGGCGGAGCGTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAGGTAACAC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	8/16	INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1199166	T T	TAAAAAGG others(299): Show TAAAAAGGTAACACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAAGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GTGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(30): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00642.hp1 HG01106.hp2 HG01256.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01975.hp1 HG02015.hp1 HG02071.hp1 HG02148.hp2 HG02293.hp1 HG02300.hp2 HG02602.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp2 HG03017.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 NA18942.hp1 NA18943.hp2 NA18963.hp1 NA18983.hp2 NA18986.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0011 a0012	a0001c0001 a0002c0003 a0002c0005 others(3): Show a0001c0001 a0002c0003 a0002c0005 a0005c0015 a0011c0018 a0012c0019	a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 others(3): Show a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 a0005c0015t0001 a0011c0018t0001 a0012c0019t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 others(30): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0030 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0064 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0098 a0002c0003t0001g0099 a0002c0003t0001g0113 a0002c0003t0001g0138 a0002c0003t0001g0148 a0002c0003t0001g0154 a0002c0003t0001g0158 a0002c0003t0001g0161 a0002c0003t0001g0171 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0183 a0002c0005t0001g0014 a0002c0005t0001g0032 a0002c0005t0001g0107 a0002c0005t0001g0114 a0002c0005t0001g0168 a0005c0015t0001g0037 a0011c0018t0001g0046 a0012c0019t0001g0122 a0012c0019t0001g0159	33	190	0.1737	306	c.592 others(323): Show c.592-9924_592-9923insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAAGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGTGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAGGTAACAC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	8/16	INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1199166	T T	TAAAAAGG others(299): Show TAAAAAGGTAACACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CTGGGCGTGGTAGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAAGAGAATGGCGTGAACCTGGGAGGCGGAGCGTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02717.hp1 HG02886.hp1 others(2): Show HG01169.hp2 HG02717.hp1 HG02886.hp1 HG02970.hp2 HG03579.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0081 a0005c0006t0001g0082 a0005c0006t0001g0083 others(2): Show a0005c0006t0001g0081 a0005c0006t0001g0082 a0005c0006t0001g0083 a0005c0006t0001g0085 a0005c0006t0001g0086	5	190	0.0263	306	c.592 others(323): Show c.592-9924_592-9923insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCTGGGCGTGGTAGCGGGCACCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAAGAGAATGGCGTGAACCTGGGAGGCGGAGCGTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAGGTAACAC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	8/16	INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1221582	C C	CTCTCTGT others(299): Show CTCTCTGTCACTGTCTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGC CCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGT CTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGT CTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCT CTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCT CTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTTTCAGTCT CTGGTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0054 a0004c0014t0001g0054	1	190	0.0053	306	c.719 others(325): Show c.719+12353_719+12354insCTCTGTCACTGTCTCTGCCTCTGTCT CTGCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCT CAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCT CTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGC CTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGT CTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGT CTCTCTCTGTCCCTTTCAGTCTCTGGTTTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16	INFO_REALIGN_3_PRIME	chr2	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(299): Show TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTGCA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18946.hp2 HG02056.hp1 NA18946.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0092 a0001c0003t0005g0093 a0001c0003t0005g0092 a0001c0003t0005g0093	2	380	0.0053	306	c.-13 others(323): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCC CAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1	INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(299): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATATA ACATATG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0285 a0001c0006t0014g0285	1	356	0.0028	306	c.-11 others(327): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATATAACATATGATA	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(299): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTACAGGCATCAGTCACTGTGCCTGGCTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACG CAGTTGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG01071.hp1 others(29): Show HG00323.hp2 HG00733.hp1 HG01071.hp1 HG01099.hp2 HG01243.hp1 HG01891.hp1 HG01928.hp1 HG02027.hp2 HG02080.hp2 HG02148.hp2 HG02257.hp1 HG02293.hp2 HG02486.hp1 HG02602.hp2 HG02738.hp2 HG03098.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18949.hp2 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19012.hp1 NA19054.hp2 NA19067.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0011	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0001c0018 a0003c0005 a0004c0004 a0011c0022	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(6): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0003t0001 a0001c0006t0001 a0001c0018t0012 a0003c0005t0001 a0004c0004t0001 a0011c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0099 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0099 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0231 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0287 a0001c0001t0001g0307 a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0010g0348 a0001c0001t0011g0217 a0001c0003t0001g0101 a0001c0003t0001g0165 a0001c0003t0001g0278 a0001c0006t0001g0015 a0001c0018t0012g0346 a0003c0005t0001g0304 a0004c0004t0001g0187 a0004c0004t0001g0211 a0011c0022t0001g0255	32	356	0.0899	306	c.245 others(323): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGTCACTGTGCCTGG CTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTG CCAAGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14	INFO_REALIGN_3_PRIME	chr16	TogoVar
SS18L1_chr20_62138769_62187514	62166667	A A	ATAATCCC others(299): Show ATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGCCAG GAATTTGAGACCAGCCTGACCAACGTGGCGAAACCCCATCTCTACCAAAA AATACAAATATTAGCTGGCCATGGTGGTGCACGCCTGTAGTCCCAGTTAC TCAGGCGGAGGCGGGAGAATCGCTTAAACCTGGGAAGTGGAGGTTGCAGT GAGCCGAGATCGTGCCACTGCATTCCAGCCTTGCGACAGGATAAGACCCT GTCTCAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTCGGTGCATTAGTTC ACACCTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01123.hp1 HG02280.hp1 others(13): Show HG00642.hp1 HG01123.hp1 HG02280.hp1 HG02723.hp1 HG02922.hp2 HG03017.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03492.hp2 HG03579.hp2 HG03834.hp2 HG04115.hp1 HG04204.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0004 a0001c0002t0010 a0001c0002t0014 others(3): Show a0001c0002t0004 a0001c0002t0010 a0001c0002t0014 a0001c0002t0023 a0001c0002t0026 a0001c0012t0004	a0001c0002t0004g0029 a0001c0002t0004g0273 a0001c0002t0004g0274 others(13): Show a0001c0002t0004g0029 a0001c0002t0004g0273 a0001c0002t0004g0274 a0001c0002t0004g0275 a0001c0002t0004g0276 a0001c0002t0004g0277 a0001c0002t0004g0278 a0001c0002t0004g0281 a0001c0002t0004g0285 a0001c0002t0010g0270 a0001c0002t0010g0272 a0001c0002t0014g0284 a0001c0002t0014g0286 a0001c0002t0023g0279 a0001c0002t0026g0280 a0001c0012t0004g0291	16	316	0.0506	306	c.916 others(323): Show c.916+1168_916+1169insGGGAGGCCAAGGCAGGCGGATCACTTGA GGCCAGGAATTTGAGACCAGCCTGACCAACGTGGCGAAACCCCATCTCTA CCAAAAAATACAAATATTAGCTGGCCATGGTGGTGCACGCCTGTAGTCCC AGTTACTCAGGCGGAGGCGGGAGAATCGCTTAAACCTGGGAAGTGGAGGT TGCAGTGAGCCGAGATCGTGCCACTGCATTCCAGCCTTGCGACAGGATAA GACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTCGGTGCAT TAGTTCACACCTGTAATCCCAGCACTTT	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	8/10	INFO_REALIGN_3_PRIME	chr20	TogoVar
ST3GAL3_chr1_43702536_43936159	43743239	C C	CAAAACAG others(299): Show CAAAACAGAGCCCCCCTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCGCGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATGCAAAAAATTAGCCG GGCGTGGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp2 others(26): Show HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00673.hp2 HG01074.hp2 HG02074.hp1 HG02523.hp2 HG03704.hp2 NA18942.hp1 NA18951.hp1 NA18954.hp2 NA18969.hp2 NA18973.hp1 NA18982.hp1 NA18983.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19062.hp1 NA19062.hp2 NA19074.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009	a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0002g0015 others(26): Show a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0002g0015 a0001c0001t0002g0032 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0058 a0001c0001t0004g0014 a0001c0001t0004g0020 a0001c0001t0004g0024 a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0038 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0052 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0008g0036 a0001c0001t0009g0037	29	274	0.1058	306	c.118 others(323): Show c.118+6873_118+6874insCTCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCGCGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATGCAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAACAGAGCCCCC	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	2/11	INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43904942	C C	CCTCCCCC others(299): Show CCTCCCCCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCACCTGC TGCTCCTCTTCCCGCCACTCTTCCTCCCCCCGCCTGCTGCTCCTCTTCCC ACCACTCTCCCTCCCTCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCC CCCTCCTCCTGCTCGTCTTCCTGCCACTCTTCCTCCCTCTCCTCCTGTTC CTCTTCCTGCCACTCTTTCCCCTCCTCCTGCTCCTATTCCTGCCACTCTT CCTTCCCTTCCTCCTGCTCCTATTCCTGCCACTCTCCCTTCCCCTCCTCC TGCTCCT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	274	0.0037	306	c.744 others(323): Show c.744+5217_744+5218insCCCCCTCCTCCTGCTCCTCTTCCCGCCA CTCTTCCTCCCCCACCTGCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCC GCCTGCTGCTCCTCTTCCCACCACTCTCCCTCCCTCTCCTCCTGCTCCTC TTCCCGCCACTCTTCCTCCCCCTCCTCCTGCTCGTCTTCCTGCCACTCTT CCTCCCTCTCCTCCTGTTCCTCTTCCTGCCACTCTTTCCCCTCCTCCTGC TCCTATTCCTGCCACTCTTCCTTCCCTTCCTCCTGCTCCTATTCCTGCCA CTCTCCCTTCCCCTCCTCCTGCTCCTCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11	INFO_REALIGN_3_PRIME	chr1	TogoVar
STX18_chr4_4413968_4547048	4516016	T T	TAAGAACT others(299): Show TAAGAACTATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATC AGGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0105	1	246	0.0041	306	c.168 others(325): Show c.168+25780_168+25781insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCCTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGATAGTTCTT	STX18	ENSG00000168818.10	transcript	ENST00000306200.7	protein_coding	1/10		chr4	TogoVar
SYN2_chr3_11999388_12197032	12095555	A A	AAAAAAAA others(299): Show AAAAAAAAAAAAAAAACATTGGCCGGGCACGGTGGCTTACGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCAA GACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAATATTAAAAA AAAAAAAAAAAGCCGGGCGTTGTGGCAGGTGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGTGGAGCTTGCAG TGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACGCAGCAAGACT CCGTCTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03041.hp1 HG03130.hp1 others(1): Show HG01099.hp2 HG03041.hp1 HG03130.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0029 a0003c0003t0001g0032 a0003c0003t0001g0033 others(1): Show a0003c0003t0001g0029 a0003c0003t0001g0032 a0003c0003t0001g0033 a0003c0003t0001g0050	4	264	0.0152	306	c.378 others(325): Show c.378-45081_378-45080insCATTGGCCGGGCACGGTGGCTTACGC CTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAG GAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAAT ATTAAAAAAAAAAAAAAAAGCCGGGCGTTGTGGCAGGTGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGTGGA GCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACGCA GCAAGACTCCGTCTCAAAAAAAAAAAAAAA	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	1/12	INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63313900	C C	CATATATA others(299): Show CATATATATATCCATATATATATATCCATATATATATCCATATATATATA TCCATATATATATCCATATATATATATCCATATATATATCCATATATATA TATCCATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATATCCATATATATATA TATCCAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0049 a0001c0001t0016g0049	1	246	0.0041	306	c.84+ others(323): Show c.84+35182_84+35183insCCATATATATATCCATATATATATATCC ATATATATATCCATATATATATATCCATATATATATCCATATATATATAT CCATATATATATCCATATATATATATCCATATATATATATATCCATATAT ATATATATCCATATATATATATATCCATATATATATATCCATATATATAT ATATCCATATATATATATATCCATATATATATATATCCATATATATATAT ATCCATATATATATATATCCATATATATATATATCCATATATATATATAT CCATATATATATATCCATATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5	INFO_REALIGN_3_PRIME	chr3	TogoVar
TBC1D22A_chr22_46757650_47180693	46859167	T T	TTTTCGAT others(299): Show TTTTCGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATC CTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAAT CCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAA TCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGA ATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAG AATCCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACC AGAATCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG04199.hp2 HG00558.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0029 a0001c0001t0014g0065 a0001c0001t0001g0029 a0001c0001t0014g0065	2	112	0.0179	306	c.638 others(325): Show c.638-19483_638-19482insCGATAGAGGTCCGCGCAGTGCCGTGC CCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTG CCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTGT GCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTG TGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCC GTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAGTG CCGTGCCCCTTCCCGGGACCAGAATCCTTT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12	INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46859167	T T	TTTTCGAT others(299): Show TTTTCGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATC CTTTTCGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAAT CCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAA TCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGA ATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAG AATCCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACC AGAATCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0043 a0001c0001t0009g0043	1	112	0.0089	306	c.638 others(325): Show c.638-19483_638-19482insCGATAGAGGTCCGCGCAGTGCTGTGC CCCTTCCCGGGACCAGAATCCTTTTCGATAGAGGTCCGCGCAGTGCCGTG CCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGT GCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCG TGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCC GTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAGTG CCGTGCCCCTTCCCGGGACCAGAATCCTTT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12	INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D32_chr6_121074494_121339480	121255520	T T	TTTATAAT others(299): Show TTTATAATTATATTTATAATTATATTTTATAATTATATTTATAATTATAT TTTATAATTATATTTATAATTATATTTTATAATTATATTTATAATTATAT TTTATAATTATATTTATAATTATATTTTATAATTATATTTATAATTATAT TTTATAATTATATTTATAATTATATTTTATAATTATATTTATAATTATAT TTTATAATTATATTTATAATTATATTTTATAATTATATTTATAATTATAT TTTATAATTATATTTATAATTATATTTTATAATTATATTTATAATTATAT TTTATAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00735.hp2 HG01081.hp1 others(18): Show HG00597.hp1 HG00735.hp2 HG01081.hp1 HG01261.hp1 HG01361.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02132.hp1 NA18747.hp2 NA18942.hp1 NA18980.hp2 NA18991.hp2 NA18992.hp1 NA19000.hp2 NA19002.hp2 NA19009.hp1 NA19011.hp1 NA19056.hp2 NA19077.hp2	a0003 a0003	a0003c0004 a0003c0012 a0003c0013 a0003c0004 a0003c0012 a0003c0013	a0003c0004t0003 a0003c0004t0011 a0003c0012t0003 others(1): Show a0003c0004t0003 a0003c0004t0011 a0003c0012t0003 a0003c0013t0003	a0003c0004t0003g0002 a0003c0004t0003g0003 a0003c0004t0003g0008 others(18): Show a0003c0004t0003g0002 a0003c0004t0003g0003 a0003c0004t0003g0008 a0003c0004t0003g0015 a0003c0004t0003g0017 a0003c0004t0003g0018 a0003c0004t0003g0019 a0003c0004t0003g0024 a0003c0004t0003g0025 a0003c0004t0003g0026 a0003c0004t0003g0027 a0003c0004t0003g0028 a0003c0004t0003g0029 a0003c0004t0003g0030 a0003c0004t0003g0031 a0003c0004t0003g0039 a0003c0004t0003g0042 a0003c0004t0011g0014 a0003c0004t0011g0033 a0003c0012t0003g0005 a0003c0013t0003g0037	21	292	0.0719	306	c.193 others(323): Show c.1936-111_1936-110insTTATAAAATATAATTATAAATATAATTA TAAAATATAATTATAAATATAATTATAAAATATAATTATAAATATAATTA TAAAATATAATTATAAATATAATTATAAAATATAATTATAAATATAATTA TAAAATATAATTATAAATATAATTATAAAATATAATTATAAATATAATTA TAAAATATAATTATAAATATAATTATAAAATATAATTATAAATATAATTA TAAAATATAATTATAAATATAATTATAAAATATAATTATAAATATAATTA TAAAATATAATTATAAATATAATTATAA	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	16/31		chr6	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(299): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTCCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCT CCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCT TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCT CCCCCCT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	268	0.0037	306	c.186 others(323): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTCCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCC CCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTC CCTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CGTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16	INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(299): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCC TCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCT CCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCT TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCT CCCCCCT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	268	0.0037	306	c.186 others(323): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCC CCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTC CCTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CGTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16	INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(299): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCT CCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCC TTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCT CCCCCCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	268	0.0037	306	c.186 others(323): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCC CCCTCTCCCTTCCCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCT CCCTTCCCCCCCTCTCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CGTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16	INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(299): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCT CCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCC TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCT CCCCCCT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	268	0.0037	306	c.186 others(323): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCC CCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTC CCTTCCCCCCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CGTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16	INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(299): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCT CCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCT TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCCCTCCCCT CCCCCCT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0217 a0001c0001t0001g0218	2	268	0.0075	306	c.186 others(323): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCC CCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTC CCTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CGTCCCCTCCCCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16	INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(299): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCT CCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCT TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCT CCCCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00544.hp2 others(50): Show HG00099.hp1 HG00280.hp1 HG00544.hp2 HG00639.hp1 HG00733.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01496.hp2 HG02027.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02622.hp1 HG02809.hp2 HG02895.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03516.hp1 HG03710.hp1 HG03834.hp2 HG04228.hp2 NA18956.hp1 NA18962.hp2 NA18975.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp2 NA18995.hp2 NA19005.hp1 NA19056.hp2 NA19065.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0029 a0001c0001t0033 a0001c0003t0001 a0001c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0037 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0146 a0001c0001t0001g0193 a0001c0001t0001g0219 a0001c0001t0002g0248 a0001c0001t0003g0036 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0076 a0001c0001t0003g0080 a0001c0001t0003g0098 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0003g0143 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0191 a0001c0001t0006g0002 a0001c0001t0006g0029 a0001c0001t0006g0072 a0001c0001t0006g0085 a0001c0001t0006g0099 a0001c0001t0012g0013 a0001c0001t0014g0189 a0001c0001t0020g0001 a0001c0001t0029g0081 a0001c0001t0033g0261 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0135 a0001c0007t0001g0061	53	268	0.1978	306	c.186 others(323): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCC CCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTC CCTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CGTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16	INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(299): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCT CCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCT TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTGTCCCCTCCTCTCCCCT CCCCCCT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	268	0.0037	306	c.186 others(323): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCC CCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTC CCTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC TGTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16	INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(299): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCGCCTCCTCTCCCT TCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCT CCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCT TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCT CCCCCCT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	268	0.0037	306	c.186 others(323): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCGCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCC CCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTC CCTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CGTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16	INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(299): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCTCTCCCTT CCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCTC CCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTC CCCCCCT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	268	0.0037	306	c.186 others(323): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCC CTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCC CCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCC CTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCC GTCCCCTCCTCTCCCCTCCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16	INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(299): Show CCCCATCCCCTCCCTTCCCCCTCCGCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCT CCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCT TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCT CCCCCCT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	268	0.0037	306	c.186 others(323): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCGCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCC CCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTC CCTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CGTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16	INFO_REALIGN_3_PRIME	chr1	TogoVar
TECPR2_chr14_102357941_102507477	102380062	G G	GTCTTAAA others(299): Show GTCTTAAAATCCATGCACAGAGGCACCCTAGTCACACTGCTGAAGATCAC CATCTTAAAATCCATGCACAGAGGCGTCCTGGTCACACTGCTGAAGATCA CAGTCTTAAAATCCATGCACAGAGGCACCCTAGTCACACTGCTGAAGATC ACAATCTTAAAATCCATGCACAGAGGCGTCCTGGTCACACTGCTGAAGAT CACAGTCTTAAAATCCATGCACAGAGGCACCCTAGTCACACTGCTGAAGA TCACCATCTTAAAATCCATGCACAGAGGCGTCCTGGTCACACTGCTGAAG ATCACAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02698.hp1 HG03017.hp2 others(6): Show HG01169.hp2 HG02698.hp1 HG03017.hp2 HG03239.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp2 HG03942.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 others(6): Show a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0112 a0001c0001t0008g0058 a0001c0001t0008g0061	9	334	0.0270	306	c.219 others(323): Show c.219+3273_219+3274insAATCTTAAAATCCATGCACAGAGGCGTC CTGGTCACACTGCTGAAGATCACAGTCTTAAAATCCATGCACAGAGGCAC CCTAGTCACACTGCTGAAGATCACCATCTTAAAATCCATGCACAGAGGCG TCCTGGTCACACTGCTGAAGATCACAATCTTAAAATCCATGCACAGAGGC ACCCTAGTCACACTGCTGAAGATCACCATCTTAAAATCCATGCACAGAGG CGTCCTGGTCACACTGCTGAAGATCACAGTCTTAAAATCCATGCACAGAG GCACCCTAGTCACACTGCTGAAGATCAC	TECPR2	ENSG00000196663.16	transcript	ENST00000359520.12	protein_coding	2/19	INFO_REALIGN_3_PRIME	chr14	TogoVar
TERT_chr5_1248167_1300068	1273190	A A	ACATCAGA others(299): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCTACGA CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCTACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCA CAGTCAC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	392	0.0026	306	c.228 others(323): Show c.2287-911_2287-910insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15		chr5	TogoVar
THBS2_chr6_169210785_169258846	169243039	C C	CTCCCACC others(299): Show CTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACTG CTCCCACCTTCCCATCACTCCCACCTTCCCACCGCTCCCACCTTCCCACC TTCCCACCACTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACC TTCCCACCACTCCCACCTTCCCAGTGCTCCCATCTTCCCACCTTCCCACC ACTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACCT TCCCACTGCTCCCACCTTCCCACCTTCCCACATTCGCACCTTCCCACCTT CCCACAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	396	0.0025	306	c.695 others(323): Show c.695-1082_695-1081insATGTGGGAAGGTGGGAAGGTGCGAATGT GGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTG GGAATGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGG GAGCACTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAGCGGTG GGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAGCGGTG GGAAGGTGGGAGTGATGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTG GGAGCGGTGGGAAGGTGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21		chr6	TogoVar
THBS2_chr6_169210785_169258846	169243046	C C	CTTCCCAC others(299): Show CTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACTGCTCCCAC CTTCCCATCACTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCAC CACTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCAC CTTCCCACCACTCCCACCTTCCCAGTGCTCCCATCTTCCCACCTTCCCAC CACTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACC TTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCGCACCTTCCCACCT TCCCACA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02109.hp2 HG02486.hp1 others(1): Show HG01069.hp1 HG02109.hp2 HG02486.hp1 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0022 a0001c0006 a0001c0022	a0001c0006t0008 a0001c0022t0007 a0001c0006t0008 a0001c0022t0007	a0001c0006t0008g0014 a0001c0006t0008g0034 a0001c0022t0007g0038 a0001c0006t0008g0014 a0001c0006t0008g0034 a0001c0022t0007g0038	4	396	0.0101	306	c.695 others(323): Show c.695-1089_695-1088insTGTGGGAAGGTGGGAAGGTGCGAATGTG GGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGG GAATGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGG AGCACTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGGTGGG AGCGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGG AGCGGTGGGAAGGTGGGAGTGATGGGAAGGTGGGAGCAGTGGGAAGGTGG GAAGGTGGGAGCGGTGGGAAGGTGGGAA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21		chr6	TogoVar
TMC1_chr9_72516608_72843297	72835691	T T	TGTTACAA others(299): Show TGTTACAAAAAAGGCCGAGGCGGGTGGATCATGAGGTCGGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCTGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0118 a0001c0001t0016g0118	1	182	0.0055	306	c.226 others(323): Show c.2261-248_2261-247insGCCGAGGCGGGTGGATCATGAGGTCGGG AGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCA GTGAGCTGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGTTACAAAAAAG	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding	23/23	INFO_REALIGN_3_PRIME	chr9	TogoVar

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