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
SRBD1_chr2_45383680_45616267	45548144	T T	TAAAGAAT others(301): Show TAAAGAATAAAACTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	358	0.0028	308	c.167 others(325): Show c.1676-533_1676-532insTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCGCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTCAGTTTTATTCTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	12/20			chr2	TogoVar
SRP54_chr14_34977992_35034567	35009343	G G	GCCACACA others(301): Show GCCACACACATATTCTTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	396	0.0025	308	c.485 others(323): Show c.485+522_485+523insATTCTTTGTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCACACACAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
ST3GAL1_chr8_133449848_133576887	133540748	T T	TATATATA others(301): Show TATATATATAGAGACATATATATATAGACATATATATAGAGAGACATATA TATATAGACATATATATATAGAGACATATATATAGAGACATATATATAGA GACATATATATAGACATATATATAGACATATATATATAGACATATATATA GACATATATAGACATATATATAGACATATATAGACATATATATAGACATA TATAGACATATATATAGACATATATATATAGACATATATATGCAGACATA TATATAGACATATATAGACATATATATAGACATATATATAGACATATATA TATATAGAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG01884.hp1 HG02257.hp2	a0001 a0001	a0001c0004 a0001c0017 a0001c0004 a0001c0017	a0001c0004t0003 a0001c0017t0035 a0001c0004t0003 a0001c0017t0035	a0001c0004t0003g0022 a0001c0017t0035g0006 a0001c0004t0003g0022 a0001c0017t0035g0006	2	332	0.0060	308	c.-42 others(327): Show c.-429+5025_-429+5026insGTCTATATATATATATGTCTATATAT ATGTCTATATATATGTCTATATATGTCTATATATATGTCTGCATATATAT GTCTATATATATATGTCTATATATATGTCTATATATGTCTATATATATGT CTATATATGTCTATATATATGTCTATATATGTCTATATATATGTCTATAT ATATATGTCTATATATATGTCTATATATATGTCTCTATATATATGTCTCT ATATATATGTCTCTATATATATATGTCTATATATATATGTCTCTCTATAT ATATGTCTATATATATATGTCTCTATATATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL3_chr1_43702536_43936159	43743239	C C	CAAAACAG others(301): Show CAAAACAGAGCCCCCCTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCGCGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATGCAAAAAATTAGCCG GGCGTGGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01169.hp1 others(11): Show HG00735.hp1 HG00741.hp2 HG01169.hp1 HG01256.hp2 HG01346.hp1 HG01358.hp2 HG01516.hp2 HG01981.hp1 HG02280.hp2 HG02647.hp1 HG02735.hp2 HG02818.hp1 HG03041.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0066 a0001c0001t0002g0004 a0001c0001t0002g0008 others(11): Show a0001c0001t0001g0066 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0059 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0006g0060	14	274	0.0511	308	c.118 others(325): Show c.118+6873_118+6874insCTCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCGCGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATGCAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAACAGAGCCCCC	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
STOX1_chr10_68822531_68898060	68835205	C C	CTAATTTT others(301): Show CTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0013 a0003c0002t0001g0013	1	312	0.0032	308	c.310 others(325): Show c.310+7288_310+7289insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGTAATTTTTGTATTTTT	STOX1	ENSG00000165730.16	transcript	ENST00000298596.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
STRN3_chr14_30888804_31031379	30975090	T T	TAAGAAAA others(301): Show TAAGAAAAAGACACGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18948.hp2 NA18945.hp2 NA18948.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0179 a0002c0002t0001g0198 a0002c0002t0001g0179 a0002c0002t0001g0198	2	364	0.0055	308	c.283 others(327): Show c.283-18849_283-18848insTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCCGTGTCTTTTTCTT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	1/17			chr14	TogoVar
SUPT3H_chr6_44821726_45382934	45292725	T T	TAAAAAAG others(301): Show TAAAAAAGACAAGGAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	262	0.0038	308	c.101 others(327): Show c.101+72475_101+72476insTTTTTTTTTTTTGAGACGGAGTCTCG CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCT CCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCCCTCCTTGTCTTTTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUSD1_chr9_112035783_112180297	112178402	C C	CAAGAGAG others(301): Show CAAGAGAGCATGGTTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGG GTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAA CCCCGTCTCTACTAAAAATTCAAAAAATTAGCCGGGCGTGGTGGCGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAG TCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG03579.hp1 NA19030.hp1 others(1): Show HG01109.hp2 HG03579.hp1 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0003t0004	a0001c0001t0001g0096 a0001c0001t0003g0070 a0001c0001t0006g0072 others(1): Show a0001c0001t0001g0096 a0001c0001t0003g0070 a0001c0001t0006g0072 a0001c0003t0004g0069	4	338	0.0118	308	c.-31 others(319): Show c.-3168_-3167insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATT TTTTGAATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCAACCATGCTCTCTT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding		3106		chr9	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATATACA others(301): Show TATATACATATATACACATATGTGTACATATGTGTATATATACATATATA TACACATATATATGTATATATACACATATGTGAATATGTATATATGTGTT ATATATACACATATGTGTATATGTATATATACATATATACACATATGTGT ATATATACATATATACATATACACATATGTGTATATATAACACATATATA CACATATGTGTATATATAACACATATATACACATATGTGTATATATACAC ATATATACACATATGTGTATATATACATATATACATATACACATATGTGT ATATATAAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18942.hp1 NA18957.hp1 others(3): Show HG03017.hp1 NA18942.hp1 NA18957.hp1 NA18982.hp1 NA19056.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0075 a0001c0001t0001g0182 a0001c0001t0001g0276 others(3): Show a0001c0001t0001g0075 a0001c0001t0001g0182 a0001c0001t0001g0276 a0001c0001t0001g0321 a0001c0001t0001g0345 a0001c0001t0005g0254	6	376	0.0160	308	c.158 others(327): Show c.1582-2860_1582-2859insCATATATACACATATGTGTACATATG TGTATATATACATATATATACACATATATATGTATATATACACATATGTG AATATGTATATATGTGTTATATATACACATATGTGTATATGTATATATAC ATATATACACATATGTGTATATATACATATATACATATACACATATGTGT ATATATAACACATATATACACATATGTGTATATATAACACATATATACAC ATATGTGTATATATACACATATATACACATATGTGTATATATACATATAT ACATATACACATATGTGTATATATAACATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATATACA others(301): Show TATATACATATATACACATATGTGTACATATGTGTATATATACATATATA TACACATATATATGTATATATACACATATGTGAATATGTATGTGTTATAT ATACACATATGTGTATATGTATATATGTATATATACACATATGTGTATAT ATACATATATACACATATGTGTATATATACATATATACATATACACATGT GTATATATAACACATATATACACATATGTGTATATATACATATATACATA TACACATATGTGTATATATAACACATATATACATATACACATATGTGTAT ATATAACAC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0102 a0001c0002t0005g0102	1	376	0.0027	308	c.158 others(327): Show c.1582-2860_1582-2859insCATATATACACATATGTGTACATATG TGTATATATACATATATATACACATATATATGTATATATACACATATGTG AATATGTATGTGTTATATATACACATATGTGTATATGTATATATGTATAT ATACACATATGTGTATATATACATATATACACATATGTGTATATATACAT ATATACATATACACATGTGTATATATAACACATATATACACATATGTGTA TATATACATATATACATATACACATATGTGTATATATAACACATATATAC ATATACACATATGTGTATATATAACACATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYN3_chr22_32502820_33063381	32931818	C C	CCAGATGC others(301): Show CCAGATGCTGTTTGATGGGACATTTTCTCTAGATTTTCTCACCTTCATGC TCTACAGTAGTATGGCATCATGACTCTGCAGATGCTGTTTGATGGGACAT TTTCTCTAGATTTTCTCACCTTCATGCTCTACAGTAGTATGGCATCATGA CTCTGCAGATGCTGTTTGATGGGACATTTTCTCTAGATTTTCTCACCTTC ATGCTCTACAGTAGTATGGCATCATGACTCTGCAGATGCTGTTTGATGGG ACATTTTCTCTAGATTTTCTCACCTTCATGCTCTACAGTAGTATGGCATC ATGACTCTG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03942.hp2 HG04199.hp1 HG03688.hp2 HG03942.hp2 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0022 a0002c0002t0050 a0001c0001t0008 a0002c0002t0022 a0002c0002t0050	a0001c0001t0008g0133 a0002c0002t0022g0009 a0002c0002t0050g0025 a0001c0001t0008g0133 a0002c0002t0022g0009 a0002c0002t0050g0025	3	184	0.0163	308	c.370 others(323): Show c.370-645_370-338dupCAGAGTCATGATGCCATACTACTGTAGAGC ATGAAGGTGAGAAAATCTAGAGAAAATGTCCCATCAAACAGCATCTGCAG AGTCATGATGCCATACTACTGTAGAGCATGAAGGTGAGAAAATCTAGAGA AAATGTCCCATCAAACAGCATCTGCAGAGTCATGATGCCATACTACTGTA GAGCATGAAGGTGAGAAAATCTAGAGAAAATGTCCCATCAAACAGCATCT GCAGAGTCATGATGCCATACTACTGTAGAGCATGAAGGTGAGAAAATCTA GAGAAAATGTCCCATCAAACAGCATCTG	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	3/13			chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620601	A A	ACCCATCC others(301): Show ACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCAC CATCCCCCATCCTATCCACCCACCATCCCCCATCCTATCCACCCACCCAC CATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCC ATACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCC ACCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCACCAC CCCCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCAC CCACCATCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03017.hp1 HG01261.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0089 a0001c0001t0010g0242 a0001c0001t0003g0089 a0001c0001t0010g0242	2	258	0.0078	308	c.113 others(327): Show c.113-25942_113-25941insCCCATCCTATCCACCCACCATCCCCC ATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACATCC ATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCC CCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCA TCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCAT ACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCAC CATCCCCCATCCTATCCACCCACCCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46859963	T T	TGTGCCCC others(301): Show TGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTG CCGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAG TGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCA GTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGC AGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCG CAGTGCTGTGCCCCTTCCTGGGACCAGAATCCTTTTTTGATAGAGGTCCG CGCAGTGCC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG04199.hp1 NA20129.hp1 HG01361.hp1 HG04199.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0061 a0001c0001t0003g0081 a0001c0001t0004g0022 a0001c0001t0001g0061 a0001c0001t0003g0081 a0001c0001t0004g0022	3	112	0.0268	308	c.638 others(327): Show c.638-18628_638-18627insCGGGACCAGAATCCTTTTTTGATAGA GGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAG AGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATA GAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTCCAT AGAGGTCCGCGCAGTGCTGTGCCCCTTCCTGGGACCAGAATCCTTTTTTG ATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTC CATAGAGGTCCGCGCAGTGCCGTGCCCCTTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46860148	C C	CATAGAGG others(301): Show CATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTT CCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTT TTTGATAGAGGACCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCT TTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCC TTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATC GTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAAT CCTTTTTTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG02717.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0005 a0001c0001t0010g0004 a0001c0001t0002g0005 a0001c0001t0010g0004	2	112	0.0179	308	c.638 others(327): Show c.638-18486_638-18485insCGTGCCCCTTCCCGGGACCAGAATCC TTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATC CTTTTTTGATAGAGGACCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAA TCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGA ATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAG AATCGTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCA GAATCCTTTTTTGATAGAGGTCCGCGCAGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46860148	C C	CATAGAGG others(301): Show CATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTT CCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTT TTTGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCT TTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCC TTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATC GTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAAT CCTTTTTTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00741.hp1 others(6): Show HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01496.hp1 HG02257.hp1 HG02976.hp1 HG03486.hp1 HG06807.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0002c0003t0003	a0001c0001t0001g0008 a0001c0001t0001g0057 a0001c0001t0001g0074 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0057 a0001c0001t0001g0074 a0001c0001t0001g0091 a0001c0001t0002g0037 a0001c0001t0003g0063 a0001c0001t0008g0044 a0001c0001t0011g0106 a0002c0003t0003g0028	9	112	0.0804	308	c.638 others(327): Show c.638-18486_638-18485insCGTGCCCCTTCCCGGGACCAGAATCC TTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATC CTTTTTTGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAA TCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGA ATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAG AATCGTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCA GAATCCTTTTTTGATAGAGGTCCGCGCAGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46860148	C C	CATAGAGG others(301): Show CATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTT CCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTT TTTGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCT TTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCC TTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATC GTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAAT CCTTTTTTG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA20129.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0018 a0001c0001t0011g0023 a0001c0001t0002g0018 a0001c0001t0011g0023	2	112	0.0179	308	c.638 others(327): Show c.638-18486_638-18485insCGTGCCCCTTCCCGGGACCAGAATCC TTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATC CTTTTTTGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAA TCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGA ATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAG AATCGTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCA GAATCCTTTTTTGATAGAGGTCCGCGCAGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47020505	T T	TAAAACAA others(301): Show TAAAACAAGGGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	112	0.0089	308	c.120 others(329): Show c.1202-16556_1202-16555insCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAACAAGGG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47170899	C C	CGGAGAGA others(301): Show CGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGA GAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGAC AGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCT GGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTG TAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACGC TCCTGATGCAGGACCGGAAAGAGGACAGTCCTGGTGTGTAACCTTCCTGA TGTGGGGCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0011 a0001c0002t0005g0011	1	112	0.0089	308	c.142 others(327): Show c.1426-2590_1426-2589insACAGTCCTGGTGTGTAACCCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACGCTCCTGATGCAGGACCGGAAAGAGGACAGTCCTGGTG TGTAACCTTCCTGATGTGGGGCTGGAGAGAGG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47170909	G G	GCAGTCCT others(301): Show GCAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGGCAGTC CTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAAC CCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCTTCCT GATGCAGGACCAGAGAGAGGACGGTCCTGGTGTGTAACCCTCCTGATGTG GGAATGGAGAGAGGACGGTCCTGGTGTGTAACCCTCCTGATGCGGGGCTG GAGAGAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02886.hp1 HG02965.hp2 others(3): Show HG01243.hp1 HG02886.hp1 HG02965.hp2 HG03098.hp2 HG03195.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0085 a0001c0001t0006g0108 a0001c0001t0006g0110 others(3): Show a0001c0001t0006g0085 a0001c0001t0006g0108 a0001c0001t0006g0110 a0001c0001t0006g0112 a0001c0001t0008g0036 a0001c0001t0008g0100	6	112	0.0536	308	c.142 others(327): Show c.1426-2573_1426-2572insCCCTCCTGATGCAGGACCGGAGAGAG GGCAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGT CCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGT GTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAA CCTTCCTGATGCAGGACCAGAGAGAGGACGGTCCTGGTGTGTAACCCTCC TGATGTGGGAATGGAGAGAGGACGGTCCTGGTGTGTAACCCTCCTGATGC GGGGCTGGAGAGAGGACAGTCCTGGTGTGTAA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCE_chr1_235362427_235457443	235412135	C C	CATCCCTT others(301): Show CATCCCTTTCCCTTCCCATCCCTTTCCCTTCCCATCCCTTTCCCTTCCCA TCCCTTTCCCTTCTCCTCCCCTTCCCCTCCCCTCCCGCTCCCCTCCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCC CCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCCCTCCCCC CCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCC CTCCCCCCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0185 a0001c0001t0016g0185	1	268	0.0037	308	c.186 others(325): Show c.186-2298_186-2297insATCCCTTTCCCTTCCCATCCCTTTCCCT TCCCATCCCTTTCCCTTCCCATCCCTTTCCCTTCTCCTCCCCTTCCCCTC CCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCC CTCCCCCCTCCCCCCTCCCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTC CCTTCCCCCCTCCCCCCTCCCCTCCCCCCT	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16			chr1	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(301): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCTC CCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCT CCTCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCC CCCTCCCCT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	268	0.0037	308	c.186 others(325): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCC CCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCGTCCCCTC CTCTCCCCTCCCCCCTCCCCCCTCCCCTCC	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(301): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCC CCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCC TTCCCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCC CTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCTCTCCC TTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCC TCCCCCCCT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	268	0.0037	308	c.186 others(325): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCC CCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCCTCCCCTCCCCCCTCC CCCCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTC TCCCTTCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCC CCGTCCCCTCCTCTCCCCTCCCCCCCTCCC	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(301): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCC CCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCC TTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCC TCCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCC CTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCC CTCCCCCCT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	268	0.0037	308	c.186 others(325): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCC CCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCC CCCCTCTCCCTTCCCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCCTCCTC TCCCTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCC CCCGTCCCCTCCTCTCCCCTCCCCCCTCCC	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(301): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCC TCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCC TTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCC TCCCCCCCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	268	0.0037	308	c.186 others(325): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCCTCCCCCCCTCCCCTCCCCCCTCCC CCCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCT CCCTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCC CCGTCCCCTCCTCTCCCCTCCCCCCCTCCC	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(301): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCCTCCCCTCCCCCCCTCCCCCCCCTCTCCCTTCCCCC CTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCC CTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCC CTCCCCCCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	268	0.0037	308	c.186 others(325): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CCCCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTC TCCCTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCC CCCGTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF12_chr15_56913644_57294853	57075835	T T	TTTTCTTT others(301): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0014 a0001c0002t0028g0014	1	330	0.0030	308	c.222 others(327): Show c.222+12040_222+12041insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF25_chr16_89868592_89916379	89884721	G G	GCCCCTCT others(301): Show GCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCATGACGCCCCTCT CCCTCTGCCTGACGCCCTTTCCCTCTGCCTGACGCCCCTCTCCCTCTGCC TGACGCCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCT CTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTG CCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCC CTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCTCCCTCT GCCTGACGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02280.hp2 HG02615.hp2 others(8): Show HG01192.hp2 HG02280.hp2 HG02615.hp2 HG02630.hp2 HG02723.hp1 HG02896.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(8): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0083 a0001c0001t0001g0293	11	300	0.0367	308	c.429 others(321): Show c.429+68_429+69insCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTG CATGACGCCCCTCTCCCTCTGCCTGACGCCCTTTCCCTCTGCCTGACGCC CCTCTCCCTCTGCCTGACGCCCCTCTCCGTCTGCCTGACGCCCTCTCCGT CTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGAC GCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCC GTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGA CGCCCTCTCCCTCTGCCTGACGCCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89884721	G G	GCCCCTCT others(301): Show GCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCATGACGCCCCTCT CCCTCTGCCTGACGCCCTTTCCCTCTGCCTGACGCCCCTCTCCCTCTGCC TGACGCCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCT CTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTG CCTGACGCCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCC CTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCTCCCTCT GCCTGACGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19240.hp2 HG02818.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0008 a0001c0001t0001g0011	2	300	0.0067	308	c.429 others(321): Show c.429+68_429+69insCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTG CATGACGCCCCTCTCCCTCTGCCTGACGCCCTTTCCCTCTGCCTGACGCC CCTCTCCCTCTGCCTGACGCCCCTCTCCGTCTGCCTGACGCCCTCTCCGT CTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGAC GCCCTCTCCCTCTGCCTGACGCCCCTCTCCGTCTGCCTGACGCCCTCTCC GTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGA CGCCCTCTCCCTCTGCCTGACGCCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF3_chr19_1604292_1657615	1628374	G G	GGGGACAG others(301): Show GGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CAGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGTGGGAA GGGGACACCAGAGCTCACAGGGGGTGATGCGGGAAGGGGACAGCAGAGCT CACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGC GGGAAGGGGACAGTAGAGCTCACAGGGGGTGAGGCGGGAAAGGGACAGCA GAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGA GGTGGGAAA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0323 a0001c0007t0012g0323	1	352	0.0028	308	c.299 others(323): Show c.299-949_299-948insTTTCCCACCTCACCCCCTGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCTTTCCCGCCTCA CCCCCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCG CATCACCCCCTGTGAGCTCTGGTGTCCCCTTCCCACCTCACCCCGTGAGT TCTGCTGTCCCTTTCCCGCCTCACCCCTGTGAGCTCTGCTGTCCCCTTCC CGCCTCACCCCGTGAGTTCTGCTGTCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629080	G G	GGTGGGAA others(301): Show GGTGGGAAGGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAG CAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGT GGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCATGGG GATGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGG GACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACA GGGGGTGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp2 HG01255.hp2 HG00735.hp2 HG01123.hp2 HG01255.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0011 a0001c0004t0003 a0001c0004t0011	a0001c0004t0003g0105 a0001c0004t0003g0106 a0001c0004t0011g0145 a0001c0004t0003g0105 a0001c0004t0003g0106 a0001c0004t0011g0145	3	352	0.0085	308	c.299 others(325): Show c.299-1655_299-1654insTCCACCCCCTGTGAGCTCTGCTGTCCCC TTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCC GTGAGCTCTGCTGTCCCCTTCCCGCCCCATCCCCATGAGCTCTGCTGTCC CCTTCCCGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTG TCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCA TCCCCATGAGCTCTGCTGTCCCCTTCCCAC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCN2_chr22_30602174_30632271	30623921	T T	TGTATACA others(301): Show TGTATACATATATACACACACATATGTATACATATACACACACACATATG TATACATATATACACACACACATATGTATACATATATACACACATATGTA TACATATATACACACACATATGTATACATATATACACACACATATATGTA TACATATATACACACACATATATGTATACATATATACACACACATATGTA TACATATATACACACACATATGTATACATATATACACACACATATGTATA CATATACACACACATATGTATACATATACACACACATATGTATACATATA TACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0208 a0003c0003t0004g0208	1	466	0.0022	308	c.122 others(325): Show c.1222+838_1222+839insGTATACATATATACACACACATATGTAT ACATATACACACACACATATGTATACATATATACACACACACATATGTAT ACATATATACACACATATGTATACATATATACACACACATATGTATACAT ATATACACACACATATATGTATACATATATACACACACATATATGTATAC ATATATACACACACATATGTATACATATATACACACACATATGTATACAT ATATACACACACATATGTATACATATACACACACATATGTATACATATAC ACACACATATGTATACATATATACACACAC	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8			chr22	TogoVar
TCN2_chr22_30602174_30632271	30623921	T T	TGTATACA others(301): Show TGTATACATATATACACACACATATGTATACATATACACACACACATATG TATACATATATACACACACACATATGTATACATATATACACACATATGTA TACATATATACACACACATATGTATACATATATACACACACATATATGTA TACATATATACACACACATATGTATACATATATACACACACATATGTATA CATATATACACACACATATATGTATACATATATACACACACATATGTATA CATATACACACACACATATGTATACATATACACACACATATGTATACATA TACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0221 a0003c0003t0004g0221	1	466	0.0022	308	c.122 others(325): Show c.1222+838_1222+839insGTATACATATATACACACACATATGTAT ACATATACACACACACATATGTATACATATATACACACACACATATGTAT ACATATATACACACATATGTATACATATATACACACACATATGTATACAT ATATACACACACATATATGTATACATATATACACACACATATGTATACAT ATATACACACACATATGTATACATATATACACACACATATATGTATACAT ATATACACACACATATGTATACATATACACACACACATATGTATACATAT ACACACACATATGTATACATATACACACAC	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8			chr22	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGCCATC others(301): Show CCGCCATCCACAGTCACCACATCAGACCCTACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACAACCGCCATC CACAGTCACCACACATCAGACCCTACGACCGCCATCCACAGTCACCACAT CAGGCCCCA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18955.hp2 NA18948.hp1 NA18955.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0212 a0001c0006t0001g0217 a0001c0006t0001g0212 a0001c0006t0001g0217	2	392	0.0051	308	c.228 others(327): Show c.2287-1509_2287-1508insTGGGGCCTGATGTGGTGACTGTGGAT GGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTAGGGTCTGATGTGGTGACTGTGGATGGCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THBS2_chr6_169210785_169258846	169236149	C C	CCCATCCA others(301): Show CCCATCCACACTCATTCCCCATCCACACTCATTGCCCCATAAACACCATC CACACTCACTCCCCATCCACACTCACTCCCCATCCACATTCACTCCCATC TATACTCACTCCCCATCCACACTCATTCCCATCCACAGTCACTCCCCATC CACACTCACTCCCCCATCCACACTCTCCCTCCACCATCCACACTCTCCCT CCCCCATCCACACTCCCTCCCCATCCACACTCACTCCCCATCCACACTCA CCATCCACACTCACTCCCATCCACACTCACTCCCCATCCACACTCATTCC CCTTAAACA	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0222 a0001c0001t0010g0222	1	396	0.0025	308	c.147 others(327): Show c.1477+1020_1477+1021insTGTTTAAGGGGAATGAGTGTGGATGG GGAGTGAGTGTGGATGGGAGTGAGTGTGGATGGTGAGTGTGGATGGGGAG TGAGTGTGGATGGGGAGGGAGTGTGGATGGGGGAGGGAGAGTGTGGATGG TGGAGGGAGAGTGTGGATGGGGGAGTGAGTGTGGATGGGGAGTGACTGTG GATGGGAATGAGTGTGGATGGGGAGTGAGTATAGATGGGAGTGAATGTGG ATGGGGAGTGAGTGTGGATGGGGAGTGAGTGTGGATGGTGTTTATGGGGC AATGAGTGTGGATGGGGAATGAGTGTGGATGG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	9/21			chr6	TogoVar
THSD4_chr15_71110471_71788383	71199699	G G	GTGGTGCA others(301): Show GTGGTGCATGTGTGGTATGTGTGTGTGATGCATGTGTGTGTGGTGTGTGT GGGTGTGTGTGATGTGTGGTGTGTGTGTGGTGTGTGTGGTGTCTGGGTGT GTGGTGTGTGTGTGTAGTGTGTGTGTAGTGTGTGTGGGTGTGTGTGATGT GTGTGGTGTGTGTGGTGTGTGGGTGTGTGCTGTGTGTGTGCTGTGTGTGT GCTGTGTGTGTGTGATGCACGTGTGGGGTGTGTGTGTGTGTGCTGTGTGT GATGCATGTGTGGGGTGTGTGTGTGTGTGGTGCATGTGTGGTATGTGTGT GTGGTGCAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp1 HG01167.hp1 others(18): Show HG00280.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02735.hp2 HG02896.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03486.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG06807.hp1 NA19009.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0002c0005 a0002c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(17): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0021 a0001c0001t0030 a0001c0001t0034 a0001c0001t0041 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0004t0005 a0001c0004t0008 a0001c0004t0025 a0001c0004t0029 a0001c0006t0005 a0002c0005t0003 a0002c0005t0004 a0002c0005t0019 a0002c0015t0007	a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0004g0101 others(18): Show a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0004g0101 a0001c0001t0008g0037 a0001c0001t0010g0074 a0001c0001t0021g0005 a0001c0001t0030g0035 a0001c0001t0034g0006 a0001c0001t0041g0098 a0001c0002t0002g0073 a0001c0002t0003g0111 a0001c0003t0002g0050 a0001c0004t0005g0100 a0001c0004t0008g0051 a0001c0004t0025g0069 a0001c0004t0029g0086 a0001c0006t0005g0068 a0002c0005t0003g0004 a0002c0005t0004g0065 a0002c0005t0019g0003 a0002c0015t0007g0092	21	116	0.1810	308	c.100 others(327): Show c.100-15336_100-15335insTGGTGCATGTGTGGTATGTGTGTGTG ATGCATGTGTGTGTGGTGTGTGTGGGTGTGTGTGATGTGTGGTGTGTGTG TGGTGTGTGTGGTGTCTGGGTGTGTGGTGTGTGTGTGTAGTGTGTGTGTA GTGTGTGTGGGTGTGTGTGATGTGTGTGGTGTGTGTGGTGTGTGGGTGTG TGCTGTGTGTGTGCTGTGTGTGTGCTGTGTGTGTGTGATGCACGTGTGGG GTGTGTGTGTGTGTGCTGTGTGTGATGCATGTGTGGGGTGTGTGTGTGTG TGGTGCATGTGTGGTATGTGTGTGTGGTGCAT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	3/17			chr15	TogoVar
THSD7B_chr2_136760545_137682718	137303660	G G	GTTTATAT others(301): Show GTTTATATATATATTTATTTCTATATATATTTATATATATATTTATATAT ATATATTTATATATATTTATATATATATTTATATATATATATTTATATAT ATATTTATATATATTTATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATTTATATATATATTTATATATATATATATATTTAT ATATATTTATATATATTTATATATATATTTATATATATATATATTTATAT ATATATTTATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	98	0.0102	308	c.250 others(329): Show c.2500+27645_2500+27646insATTTATTTCTATATATATTTATAT ATATATTTATATATATATATTTATATATATTTATATATATATTTATATAT ATATATTTATATATATATTTATATATATTTATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATTTATATATATATTTATATAT ATATATATATTTATATATATTTATATATATTTATATATATATTTATATAT ATATATATTTATATATATATTTATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATAT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TINCR_chr19_5553167_5572953	5571958	T T	TAACAAGC others(301): Show TAACAAGCCAGTCCAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG TGCCACTGCACTCCAGCCTGGGCGACAGGGCGAGACTCCGTCTCAAAAAA AAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0014 a0002c0004t0014	a0002c0004t0014g0079 a0002c0004t0014g0079	1	398	0.0025	308	c.-40 others(319): Show c.-4035_-4034insTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCTG TCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACC GCGCCCGGCCTGGACTGGCTTGTT	TINCR	ENSG00000223573.7	transcript	ENST00000448587.6	protein_coding		4006		chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121747573	A A	ACTGGGGT others(301): Show ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0053 a0002c0002t0053	a0002c0002t0053g0064 a0002c0002t0053g0064	1	314	0.0032	308	c.189 others(323): Show c.189-740_189-739insTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747958	C C	CTGGGGTA others(301): Show CTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGA AGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGG GAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGG GAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGG GGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGA AGGTGGGAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	314	0.0032	308	c.189 others(323): Show c.189-368_189-367insTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGGCACTGGGGTAGAAGGTGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2383642	A A	AAGAAATT others(301): Show AAGAAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCTACCACCCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(43): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00609.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01934.hp2 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02622.hp1 HG02647.hp1 HG03017.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 NA18612.hp1 NA18970.hp2 NA18983.hp1 NA18983.hp2 NA19009.hp1 NA19009.hp2 NA19079.hp1 NA19079.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0020	a0001c0001 a0001c0004 a0001c0013 others(11): Show a0001c0001 a0001c0004 a0001c0013 a0002c0005 a0002c0011 a0003c0003 a0003c0014 a0004c0006 a0004c0009 a0005c0010 a0005c0028 a0007c0008 a0008c0012 a0020c0021	a0001c0001t0001 a0001c0004t0002 a0001c0013t0001 others(12): Show a0001c0001t0001 a0001c0004t0002 a0001c0013t0001 a0002c0005t0002 a0002c0011t0001 a0003c0003t0003 a0003c0014t0003 a0004c0006t0001 a0004c0006t0004 a0004c0009t0002 a0005c0010t0002 a0005c0028t0002 a0007c0008t0003 a0008c0012t0001 a0020c0021t0003	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0038 others(43): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0108 a0001c0004t0002g0005 a0001c0004t0002g0017 a0001c0004t0002g0034 a0001c0004t0002g0036 a0001c0004t0002g0037 a0001c0004t0002g0039 a0001c0004t0002g0040 a0001c0013t0001g0021 a0001c0013t0001g0084 a0002c0005t0002g0002 a0002c0011t0001g0087 a0002c0011t0001g0098 a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0058 a0003c0003t0003g0067 a0003c0003t0003g0091 a0003c0003t0003g0092 a0003c0014t0003g0043 a0004c0006t0001g0035 a0004c0006t0001g0054 a0004c0006t0004g0066 a0004c0009t0002g0088 a0004c0009t0002g0089 a0005c0010t0002g0082 a0005c0010t0002g0083 a0005c0028t0002g0080 a0007c0008t0003g0096 a0008c0012t0001g0104 a0020c0021t0003g0099	46	114	0.4035	308	c.-25 others(325): Show c.-25-6108_-25-6107insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCTACCACCCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCCAGAAATTTTTT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2383642	A A	AAGAAATT others(301): Show AAGAAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCACCCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCAGCCTCCCAAAGTGCTGGATTACAGGCGTGAGCCACCGC GCCCGGCCC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0003 a0003c0014t0003	a0003c0014t0003g0044 a0003c0014t0003g0044	1	114	0.0088	308	c.-25 others(325): Show c.-25-6108_-25-6107insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACCCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGATTACAGGCGT GAGCCACCGCGCCCGGCCCAGAAATTTTTT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMTC2_chr12_82681906_83139866	82901205	T T	TATATATA others(301): Show TATATATATAGGAATATATATATATCTGGAATATATATATAGGAATATAT ATATATCTGGAATATATATATAGGAATATATATATATCTGGAATATATAT ATAGGAATATATATATATCTGGAATATATATATAGGAATATATATATATC TGGAATATATATATAGGAATATATATATATCTGGAATATATATATAGGAA TATATATATATCTGGAATATATATATAGGAATATATATATATCTGGAATA TATATATAGGAATATATATATATCTGGAATATATATATAGGAATATATAT ATATCTGGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	96	0.0104	308	c.148 others(327): Show c.1483+4580_1483+4581insTATCTGGAATATATATATAGGAATAT ATATATATCTGGAATATATATATAGGAATATATATATATCTGGAATATAT ATATAGGAATATATATATATCTGGAATATATATATAGGAATATATATATA TCTGGAATATATATATAGGAATATATATATATCTGGAATATATATATAGG AATATATATATATCTGGAATATATATATAGGAATATATATATATCTGGAA TATATATATAGGAATATATATATATCTGGAATATATATATAGGAATATAT ATATATCTGGAATATATATAGGAATATATATA	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TOLLIP_chr11_1269371_1314632	1287479	C C	CCCTCCCC others(301): Show CCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCC CCGCCGCAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0189 a0002c0003t0003g0189	1	348	0.0029	308	c.519 others(325): Show c.519+1144_519+1145insCTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGC GGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287507	G G	GCCTCCCC others(301): Show GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCC CCGCCGCAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0213 a0001c0002t0002g0213	1	348	0.0029	308	c.519 others(325): Show c.519+1116_519+1117insGTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGC GGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGA GGCTGCGGCGGGGAGGGTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287535	G G	GCCTCCCC others(301): Show GCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGC CGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCG CACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCC CCGCCGCAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0184 a0001c0002t0002g0184	1	348	0.0029	308	c.519 others(325): Show c.519+1088_519+1089insGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGG GAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGGGTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOPAZ1_chr3_44236886_44337098	44298800	G G	GAAAAAAT others(301): Show GAAAAAATAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	258	0.0039	308	c.379 others(327): Show c.3798-5203_3798-5202insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAATAGGGG	TOPAZ1	ENSG00000173769.4	transcript	ENST00000309765.4	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
TP53AIP1_chr11_128930370_128947871	128930701	T T	TAGGGAGA others(301): Show TAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGA CCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGA TTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAG GGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGA CCAAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 NA18950.hp2 HG00438.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0070 a0001c0001t0007g0031 a0001c0001t0002g0070 a0001c0001t0007g0031	2	466	0.0043	308	c.48 others(319): Show c.4889_*4890insGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAAC CCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCG GCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCT AATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTG GCCTCCCTGACCCTTGGTCTCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4668		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930878	G G	GGGGTTAG others(301): Show GGGGTTAGGGAGGCAGGGATTATGGAGGCTGGGGTTAGGGAGGCTGGGGT TAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGAAGGCCGGGGTAGGG AGGCTGGGGGTTAGGAAGGCTGGGGTTAGGGAGACCAGGGGGTTAGGGAG ACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGG GTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	466	0.0022	308	c.47 others(319): Show c.4712_*4713insAGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGC CTCCCTAACCCCTGGCCTCCCTGACCCCTGGCCTCCCTAACCCCAGCCTC CCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTA ACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCCTGGTCTCCCTAA CCCCAGCCTTCCTAACCCCCAGCCTCCCTACCCCGGCCTTCCTAACCCCG GCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCT CCATAATCCCTGCCTCCCTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4491		chr11	TogoVar
TPCN2_chr11_69043932_69095597	69077105	T T	TTGCCCTC others(301): Show TTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCATGT CCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACTTGCCCTCCTGCCCTC CTGTTGTGTCTGTCCACTTTCCCTCCTGCCCTCCTGCCATGTCCCTCCAC CTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGTTGTGTCTGTCCAC TTGTCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCACGTCCCTCCAC CTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCTTGCCACGT CCCTCCACC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0287 a0001c0001t0005g0287	1	404	0.0025	308	c.123 others(327): Show c.1231-1332_1231-1331insATGTCCCCTCCACCTGCCCTCCTGCC GTGTCCCTCCACTTGCCCTCCTGCCCTCCTGTTGTGTCTGTCCACTTTCC CTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTC CACCTGCCCTCCTGTTGTGTCTGTCCACTTGTCCTCCTGCCATGTCCCTC CACCTGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCA TGTCCCTCCACCTGCCCTCTTGCCACGTCCCTCCACCTGCCCTCCTGCCC TCCTGCCATGTCCCTCCACCTGCCCTCCTGCC	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507587	G G	GTGTATAC others(301): Show GTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTACAC ATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGT GTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACAT GTGTACACATGTGTATACGTATACATGTGTACACATGTATGTATGTGTAT ATATGTATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0195 a0001c0001t0039g0195	1	388	0.0026	308	c.-23 others(325): Show c.-23+2460_-23+2461insTATACATATATACACATACATACATGTG TACACATGTATACGTATACACATGTGTACACATGTATACGTATACACATG TGTACACATGTATACGTATACACATGTGTACACATGTATACGTATACACA TGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTATACA CATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTATA CACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTA TACACATGTGTACACATGTATACGTATACA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar

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Search Results (Total: 10000 hits)