Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SLC6A3_chr5_1387794_1450440	1422744	C C	CCAGTGCT others(283): Show CCAGTGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCAGTGCTGCCCACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCCC ACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCTGC CCACAGTGCTGCTCACGGTGCTGGGTACCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18986.hp1 HG02602.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0107 a0001c0002t0001g0082 a0001c0001t0001g0107 a0001c0002t0001g0082	2	188	0.0106	290	c.654 others(305): Show c.654-731_654-730insTGGGCAGCGGTGGGTACCCAGCACCGTGAG CAGCACTGTGGGCAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTGGG CAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCGTG GGCAGCACTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTG GGCAGCACTG		SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14						chr5	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(283): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTATATATATTATATATATTA TGTATAATATATATTATATATATTATATATATTATGTATAATATATATTA TATATATTATATATATTATGTATAATATATATTATATATATTATATATTA TGTATAATATATATTTTATATATTATATATATTATGTATAATATATATTT TATATATTATATATATTATGTATAATATATATTATATATTA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0121 a0001c0001t0121	a0001c0001t0121g0225 a0001c0001t0121g0225	1	153	0.0065	290	c.784 others(305): Show c.784+877_784+878insTAATATATAATATATATTATACATAATATA TATAATATATAAAATATATATTATACATAATATATATAATATATAAAATA TATATTATACATAATATATAATATATATAATATATATTATACATAATATA TATAATATATATAATATATATTATACATAATATATATAATATATATAATA TATATTATACATAATATATATAATATATATAATATATATTATACATAATA TATATAATATATATATAATATATAATATATATTATACATAATATATATAA TATATATATA		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10						chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850548	A A	AATATATA others(283): Show AATATATATTATGTATAATATATATTATATATTATATATATATTATATAT ATTATGTATAATATATATTATATATTATATATATTATGTATAATATATAT TATATATTATATATATATTATATATATTATGTATAATATATATTATATAT TATATATATATTATATATATTATGTATAATATATATTATATATTATATAT ATATTATATATATTATGTATAATATATATTATATATTATATATATATTAT ATATATTATGTATAATATATATTATATATTATATATATATT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03927.hp2 NA19091.hp2 HG00423.hp2 HG03927.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0099 a0001c0001t0138 a0001c0001t0023 a0001c0001t0099 a0001c0001t0138	a0001c0001t0023g0207 a0001c0001t0099g0238 a0001c0001t0138g0188 a0001c0001t0023g0207 a0001c0001t0099g0238 a0001c0001t0138g0188	3	208	0.0144	290	c.784 others(305): Show c.784+725_784+726insAATATATATATAATATATAATATATATTAT ACATAATATATATAATATATATATAATATATAATATATATTATACATAAT ATATATAATATATATATAATATATAATATATATTATACATAATATATATA ATATATATATAATATATAATATATATTATACATAATATATATAATATATA TATAATATATAATATATATTATACATAATATATATAATATATAATATATA TTATACATAATATATATAATATATATATAATATATAATATATATTATACA TAATATATAT		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10						chr18	TogoVar
SNTG2_chr2_945849_1372613	965252	A A	ATCCTCCT others(283): Show ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTG GTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCC TCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCC TCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCC AGTCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0032 a0007c0016t0001g0032	1	183	0.0055	290	c.72+ others(307): Show c.72+14213_72+14214insGGTCCCCAATCCTCCTCCTGGTCCCCAG TCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTT GGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCC TCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTC CCCAGTCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAGTCCTCC TCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAGTCCTCCTCCTGGTCCCC AGTCCTCCTCCT		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS3_chr10_104636290_105270242	104696219	C C	CATATAAT others(283): Show CATATAATATATAATATATATCATATACACATATATAATATATATCATAT ACACATATGATATATGATATATATCATATACACATATGATATATGATATA TATCATATACACATATGATATATGATATATATCATATACACATATGATAT ATGATATATATCATATACACATATGATATATGATATATATCATATACACA TATGATATATGATATATATCATATACACATATGATATATGATATATATCA TATACACATATGATATATGATATATATCATATACACATATG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	59	0.0169	290	c.627 others(309): Show c.627+54270_627+54271insATATATAATATATATCATATACACAT ATATAATATATATCATATACACATATGATATATGATATATATCATATACA CATATGATATATGATATATATCATATACACATATGATATATGATATATAT CATATACACATATGATATATGATATATATCATATACACATATGATATATG ATATATATCATATACACATATGATATATGATATATATCATATACACATAT GATATATGATATATATCATATACACATATGATATATGATATATATCATAT ACACATATGATATA		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr10	TogoVar
SPIDR_chr8_47255938_47741306	47580668	T T	TTTAAATT others(283): Show TTTAAATTTATGCCATTCTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTT TTTGTTTTTTTAATTGAGCAAGGCACTTGCAGGCTGTGCAGCCCTTTATT GCCAGTCGGTGATCCAGCTTCATTTTTCTTAGCCCTTATTCAAACTGGAG TCGCTCTGGTTTGAATGCTTACCACATACCTCCCCTTTCCCTTTTACAGG AGGACCCTTAATCCTAGGGGTTGCAGAAGGATGAAGGTCCATCTTCTGTA ACTTCTTCATGCTGAATAGGGGCAATGATACTCCTGCCTAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0007 a0003c0003t0002g0007	1	210	0.0048	290	c.109 others(311): Show c.1098-15124_1098-15123insTTTTTTTTTTTTTTTTTTTTGTTT TTTTTTTTTGTTTTTTTAATTGAGCAAGGCACTTGCAGGCTGTGCAGCCC TTTATTGCCAGTCGGTGATCCAGCTTCATTTTTCTTAGCCCTTATTCAAA CTGGAGTCGCTCTGGTTTGAATGCTTACCACATACCTCCCCTTTCCCTTT TACAGGAGGACCCTTAATCCTAGGGGTTGCAGAAGGATGAAGGTCCATCT TCTGTAACTTCTTCATGCTGAATAGGGGCAATGATACTCCTGCCTAATTA AATTTATGCCATTCTT		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIRE2_chr16_89823475_89876319	89843690	T T	TTTTTTTT others(283): Show TTTTTTTTTTTTTTGAGACAGAGTCTCGCTTTGTTGCCCAGGCTGGAATG CAGTGGCGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCA ATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCAC CACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGT TGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCC TCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGTGCCTG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0019 a0001c0006t0001g0019	1	349	0.0029	290	c.245 others(307): Show c.245-1632_245-1631insTTTTTTTTTTTTTGAGACAGAGTCTCGC TTTGTTGCCCAGGCTGGAATGCAGTGGCGTGATCTAGGCTCACTGCAACC TCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCT GGGATTACAGGCACCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGT AGAGACGGGGTTTCGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCT TTTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAG TCACTGTGCCTG		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14						chr16	TogoVar
SPOCK3_chr4_166728384_167239494	167108995	T T	TATAAAAA others(283): Show TATAAAAATATATATAAATATTATATATTTATATAAAAATATATATAAAT ATTATATATTTATATAAATATATATATAAATATATATTTATATAAATATA TATATAAATATATATTTATATAAATATATATATAAATATATATTTATATA AAAATATATATAAATATATATTTATATAAAAATATATATAAATATATATT TATATAAAAATATATATAAATATATATTTATATAAAAATATATAAATATA TATTTATATAAAAATATATATAAATATATATTTATATAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0008 a0001c0004t0003g0008	1	74	0.0135	290	c.190 others(309): Show c.190-46459_190-46458insTTTTATATAAATATATATTTATATAT ATTTTTATATAAATATATATTTATATATTTTTATATAAATATATATTTAT ATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATATAT ATTTATATATATTTTTATATAAATATATATTTATATATATATTTATATAA ATATATATTTATATATATATTTATATAAATATATATTTATATATATATTT ATATAAATATATAATATTTATATATATTTTTATATAAATATATAATATTT ATATATATTTTTAT		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10						chr4	TogoVar
STK3_chr8_98449633_98830688	98549764	A A	AATCACAG others(283): Show AATCACAGTGCTTTGGGAGGTCAGGGCAGAAGGCCAGGAGTTTGAGACCA GCCTAGGCAATGCAGCAAGACCTTGCCTCCACAAAAAATTTAAAAATTAG CTGAACACGGTGGTGTGCCTGTAGTCCTAGCTACTTGATGGGCTGAGGCT GGAAGACTGCCTGAGCTCAAGAGTTTGAGGCTACAGTGAGCTATGATGGT GCCACTGCTCTCCAGCCGGGGTGACAGAGCAAGACCCCATTTCAAAAAGA AAGAAAGGACCAAAGAATCTGCTATTTAGAAAAACTTGATT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	168	0.0060	290	c.949 others(307): Show c.949-1893_949-1604dupAATCAAGTTTTTCTAAATAGCAGATTCT TTGGTCCTTTCTTTCTTTTTGAAATGGGGTCTTGCTCTGTCACCCCGGCT GGAGAGCAGTGGCACCATCATAGCTCACTGTAGCCTCAAACTCTTGAGCT CAGGCAGTCTTCCAGCCTCAGCCCATCAAGTAGCTAGGACTACAGGCACA CCACCGTGTTCAGCTAATTTTTAAATTTTTTGTGGAGGCAAGGTCTTGCT GCATTGCCTAGGCTGGTCTCAAACTCCTGGCCTTCTGCCCTGACCTCCCA AAGCACTGTGAT		STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding	8/10						chr8	TogoVar
STOML3_chr13_38960925_38995831	38988594	A A	ATATATTT others(283): Show ATATATTTTATATCATATATTTTATATATAATATATTTTATATCATATAT TTTATATATAATATATTTTATATCATATATTTTATATATAATATATTTTA TATCATATATTTTATATATAATATATTTTATATCATATATTTTATATATA ATATATTTTATATCATATATTTTATATATAATATATTATATTTTATATCA TATATTTTATATATAATATATTATATTTTATATCATATATTTTATATATA ATATATTATATTTTATATCATATATTTTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03041.hp2 HG02698.hp1 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0071 a0002c0002t0001g0072 a0001c0001t0001g0071 a0002c0002t0001g0072	2	356	0.0056	290	c.52+ others(305): Show c.52+2075_52+2076insATATATTATATATAAAATATATGATATAAA ATATAATATATTATATATAAAATATATGATATAAAATATAATATATTATA TATAAAATATATGATATAAAATATAATATATTATATATAAAATATATGAT ATAAAATATATTATATATAAAATATATGATATAAAATATATTATATATAA AATATATGATATAAAATATATTATATATAAAATATATGATATAAAATATA TTATATATAAAATATATGATATAAAATATATTATATATAAAATATATGAT ATAAAATATA		STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6						chr13	TogoVar
SUFU_chr10_102498972_102638535	102637273	A A	ATATTTAT others(283): Show ATATTTATATATTATATAACATATATTAATATATATAATATATATATATA TTATTATAACTATATATTATATATAATAATATATAATATATATATATATT ATATAATTATATATAAATATATATTATATATTATATATATTAATATAATA ACTATATATTATTATATATTATATATTATATATTACTATATAATATAATA TAACTATATATTATATTTTATTATGATTATATAACTATTATATATATAAT ATTATATTAATATATTATATTATATCATATATAAATAGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0113 a0001c0001t0004g0113	1	266	0.0038	290	c.71 others(301): Show c.7118_*7119insTATTTATATATTATATAACATATATTAATATATA TAATATATATATATATTATTATAACTATATATTATATATAATAATATATA ATATATATATATATTATATAATTATATATAAATATATATTATATATTATA TATATTAATATAATAACTATATATTATTATATATTATATATTATATATTA CTATATAATATAATATAACTATATATTATATTTTATTATGATTATATAAC TATTATATATATAATATTATATTAATATATTATATTATATCATATATAAA TAGTAT		SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding					3739		chr10	TogoVar
TAS2R8_chr12_10801051_10812286	10808239	A A	AGGATTTT others(283): Show AGGATTTTTTCTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00642.hp1 others(8): Show HG00408.hp1 HG00438.hp1 HG00642.hp1 NA18946.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18972.hp1 NA18973.hp1 NA19055.hp2 NA19068.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0000 a0003c0004t0002g0000	11	407	0.0270	290	c.-12 others(301): Show c.-1260_-1259insACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATAGAAA AAATCC		TAS2R8	ENSG00000121314.3	transcript	ENST00000240615.3	protein_coding					954		chr12	TogoVar
TAS2R9_chr12_10804094_10815168	10808239	A A	AGGATTTT others(283): Show AGGATTTTTTCTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00642.hp1 others(8): Show HG00408.hp1 HG00438.hp1 HG00642.hp1 NA18946.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18972.hp1 NA18973.hp2 NA19055.hp2 NA19068.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	11	405	0.0272	290	c.89 others(299): Show c.897_*898insACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATAGAAAAA ATCC		TAS2R9	ENSG00000121381.4	transcript	ENST00000240691.4	protein_coding					854		chr12	TogoVar
TBC1D16_chr17_79927343_80040872	80024453	C C	CACACCAT others(283): Show CACACCATAGACACACACCACACGCACCATAGACAAACCACACGCACCAT ACACACACCACACACCATATACACACACGCCACACACCACACACCATAGG CACACACACCACACACCACACACCACAGACATACACACCACACACCATAA GCACACACACCACACACACCATAGACACACATACCACACACCACACACCA CACACCATACCACACACCACAACACACACCATAGACACACACACCATACA CCATAGACACACATACCACACACACCATAGACACACACACT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp2 HG02145.hp1 others(8): Show HG00639.hp2 HG02109.hp2 HG02145.hp1 HG02647.hp2 HG02895.hp2 HG02896.hp1 HG03486.hp2 HG03579.hp2 NA18522.hp2 NA19240.hp1 NA21309.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0001c0002 a0017c0025 a0001c0001 a0001c0002 a0017c0025	a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0017 a0001c0001t0068 a0001c0001t0076 a0001c0002t0009 a0001c0002t0092 a0017c0025t0002	a0001c0001t0003g0281 a0001c0001t0003g0289 a0001c0001t0003g0291 others(8): Show a0001c0001t0003g0281 a0001c0001t0003g0289 a0001c0001t0003g0291 a0001c0001t0005g0288 a0001c0001t0011g0285 a0001c0001t0017g0286 a0001c0001t0068g0287 a0001c0001t0076g0292 a0001c0002t0009g0290 a0001c0002t0092g0284 a0017c0025t0002g0283	11	56	0.1964	290	c.-62 others(309): Show c.-62-10845_-62-10844insAGTGTGTGTGTCTATGGTGTGTGTGG TATGTGTGTCTATGGTGTATGGTGTGTGTGTCTATGGTGTGTGTTGTGGT GTGTGGTATGGTGTGTGGTGTGTGGTGTGTGGTATGTGTGTCTATGGTGT GTGTGGTGTGTGTGCTTATGGTGTGTGGTGTGTATGTCTGTGGTGTGTGG TGTGTGGTGTGTGTGCCTATGGTGTGTGGTGTGTGGCGTGTGTGTATATG GTGTGTGGTGTGTGTATGGTGCGTGTGGTTTGTCTATGGTGCGTGTGGTG TGTGTCTATGGTGT		TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	1/11						chr17	TogoVar
TBC1D16_chr17_79927343_80040872	80024453	C C	CACACCAT others(283): Show CACACCATAGACACACACCACACGCACCATAGACAAACCACACGCACCAT ACACACACCACACACCATATACACACACGCCACACACCACACACCATAGG CACACACACCACACACCACACACCATAGACATACACACCACACACCATAA GCACACACACCACACACACCATAGACACACATACCACACACCACACACCA CACACCATACCACACACCACAACACACACCATAGACACACACACCATACA CCATAGACACACATACCACACACACCATAGACACACACACT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03041.hp1 HG03139.hp2 others(2): Show HG02559.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0017 a0001c0001t0040 a0001c0002t0011 others(2): Show a0001c0001t0017 a0001c0001t0040 a0001c0002t0011 a0001c0005t0063 a0001c0005t0091	a0001c0001t0017g0333 a0001c0001t0040g0282 a0001c0002t0011g0332 others(2): Show a0001c0001t0017g0333 a0001c0001t0040g0282 a0001c0002t0011g0332 a0001c0005t0063g0221 a0001c0005t0091g0220	5	50	0.1000	290	c.-62 others(309): Show c.-62-10845_-62-10844insAGTGTGTGTGTCTATGGTGTGTGTGG TATGTGTGTCTATGGTGTATGGTGTGTGTGTCTATGGTGTGTGTTGTGGT GTGTGGTATGGTGTGTGGTGTGTGGTGTGTGGTATGTGTGTCTATGGTGT GTGTGGTGTGTGTGCTTATGGTGTGTGGTGTGTATGTCTATGGTGTGTGG TGTGTGGTGTGTGTGCCTATGGTGTGTGGTGTGTGGCGTGTGTGTATATG GTGTGTGGTGTGTGTATGGTGCGTGTGGTTTGTCTATGGTGCGTGTGGTG TGTGTCTATGGTGT		TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	1/11						chr17	TogoVar
TBCD_chr17_82747065_82950914	82765247	C C	CTGTGTGC others(283): Show CTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCAT AGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCGTGCTCATAGTCTGCT TTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTAC AAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGG GTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCAGGTGTCTGT GTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03225.hp1 HG02615.hp1 HG03225.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0005 a0002c0007t0005	a0002c0007t0005g0132 a0002c0007t0005g0155 a0002c0007t0005g0132 a0002c0007t0005g0155	2	256	0.0078	290	c.334 others(307): Show c.334-1016_334-1015insTGCTCATAGTCTGCTTTTCTTACAAGCT TGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTG CGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCA TAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTT TTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACA AGCTTGCAGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCG GGTGTCTGTGTG		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCE_chr1_235362427_235457443	235412192	T T	TCCCTTCC others(283): Show TCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCC CCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCC CTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCTCC CCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCTCCCCCCCTCC CCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTTCCCCCCTCC CCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0031 a0001c0001t0034g0031	1	257	0.0039	290	c.186 others(307): Show c.186-2238_186-2237insTTCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTC CTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCT TCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCC CTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCC TCTCCCCTCCCC		TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
TBXAS1_chr7_139824264_140025293	139950776	A A	ACCCCCTC others(283): Show ACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGAC CCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCC CCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCC TCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCCT CGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCG CCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	263	0.0038	290	c.451 others(307): Show c.451-2558_451-2557insCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCCTCGCCCTCCATCTA CGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACG GGACCCCCTCGCCCTCCATCTACGGGACCCCCCTCGCCCTCCATCTACGG GACCCCCTCGCC		TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
TCERG1_chr5_146442333_146516961	146443577	T T	TGGCAGTT others(283): Show TGGCAGTTATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 NA20300.hp2 HG02622.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0020	2	318	0.0063	290	c.-37 others(301): Show c.-3773_-3772insGGCAGTTATTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTTTTTAGTAGAGACGGGGTTTCACCTTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTC CCAAAG		TCERG1	ENSG00000113649.14	transcript	ENST00000679501.2	protein_coding					3755		chr5	TogoVar
TCF25_chr16_89868592_89916379	89907833	C C	CCCAGCTC others(283): Show CCCAGCTCCCGGCTCCCACCTCCCAGTTTCCACCTCCCAGCTCCAACCTC CCTCCTCCCTCCTTCCAGTTCCCACCTCCCAGCTCCCACCTCCCACCTCC CAGCACCCACCTCTCTCCTCCCTCCTCCCAGCTCCTGGCTCCCACCTCCC AGTTTCCACCTCCCAGCTCCAACCTCCCCTCCTCCCTCCTTCCAGTTCCC ACCTCCCAGCTCCCACCTCCCAGCTCCCACCTCTCTCCTCCCTCCTCCCA GCTCCCGGCTCCCACCTCCCAGTTTCCACCTCCCAGCTCCA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	2	0.5000	290	c.179 others(307): Show c.1799+511_1799+512insCCAGCTCCCGGCTCCCACCTCCCAGTTT CCACCTCCCAGCTCCAACCTCCCTCCTCCCTCCTTCCAGTTCCCACCTCC CAGCTCCCACCTCCCACCTCCCAGCACCCACCTCTCTCCTCCCTCCTCCC AGCTCCTGGCTCCCACCTCCCAGTTTCCACCTCCCAGCTCCAACCTCCCC TCCTCCCTCCTTCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCA CCTCTCTCCTCCCTCCTCCCAGCTCCCGGCTCCCACCTCCCAGTTTCCAC CTCCCAGCTCCA		TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17						chr16	TogoVar
TDP1_chr14_89950927_90049764	90020800	C C	CTTTTTTT others(283): Show CTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18944.hp2 HG01433.hp1 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0203 a0001c0002t0004g0204 a0001c0002t0004g0203 a0001c0002t0004g0204	2	237	0.0084	290	c.164 others(309): Show c.1644+1396_1644+1397insTTTTTTTTTTGAGACGGAGTCTTGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTTTT TTTTTTTTTTTTTT		TDP1	ENSG00000042088.14	transcript	ENST00000335725.9	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr14	TogoVar
TDP1_chr14_89950927_90049764	90020800	C C	CTTTTTTT others(283): Show CTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02055.hp1 HG02258.hp1 others(10): Show HG00323.hp2 HG02055.hp1 HG02258.hp1 HG02572.hp2 HG02622.hp1 HG02897.hp2 HG03540.hp1 HG03710.hp1 HG04228.hp1 NA18973.hp2 NA18989.hp2 NA19056.hp2 NA19083.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0002 a0007c0012 a0009c0013 a0001c0002 a0007c0012 a0009c0013	a0001c0002t0004 a0001c0002t0010 a0001c0002t0021 others(2): Show a0001c0002t0004 a0001c0002t0010 a0001c0002t0021 a0007c0012t0012 a0009c0013t0004	a0001c0002t0004g0021 a0001c0002t0004g0207 a0001c0002t0004g0208 others(9): Show a0001c0002t0004g0021 a0001c0002t0004g0207 a0001c0002t0004g0208 a0001c0002t0004g0210 a0001c0002t0004g0211 a0001c0002t0004g0214 a0001c0002t0004g0215 a0001c0002t0004g0217 a0001c0002t0010g0229 a0001c0002t0021g0192 a0007c0012t0012g0141 a0009c0013t0004g0212	13	248	0.0524	290	c.164 others(309): Show c.1644+1396_1644+1397insTTTTTTTTTTGAGACGGAGTCTTGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTTTT TTTTTTTTTTTTTT		TDP1	ENSG00000042088.14	transcript	ENST00000335725.9	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr14	TogoVar
TDP1_chr14_89950927_90049764	90020800	C C	CTTTTTTT others(283): Show CTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0218 a0001c0002t0004g0218	1	236	0.0042	290	c.164 others(309): Show c.1644+1396_1644+1397insTTTTTTTTTTGAGACGGAGTCTTGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTTTT TTTTTTTTTTTTTT		TDP1	ENSG00000042088.14	transcript	ENST00000335725.9	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr14	TogoVar
TECRL_chr4_64272702_64414450	64351028	G G	GGGCCGGG others(283): Show GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACG GTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCAC TCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01255.hp2 HG02258.hp1 others(3): Show HG00558.hp1 HG01255.hp2 HG02258.hp1 HG02717.hp1 HG02886.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0002c0002t0006 others(1): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0006 a0002c0002t0007	a0001c0001t0002g0098 a0001c0001t0003g0151 a0002c0002t0006g0250 others(3): Show a0001c0001t0002g0098 a0001c0001t0003g0151 a0002c0002t0006g0250 a0002c0002t0007g0251 a0002c0002t0007g0252 a0002c0002t0007g0253	6	130	0.0462	290	c.287 others(309): Show c.287-22473_287-22472insTTTTTTTTTTGAGACGGAGTCTCGCT GTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCC GCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC		TECRL	ENSG00000205678.8	transcript	ENST00000381210.8	protein_coding	2/11						chr4	TogoVar
TENM4_chr11_78647829_79446030	79139785	T T	TTATATTT others(283): Show TTATATTTATATAAATATATAATATATTATATTTATATAAATATATAATA TATTATATTTATATAAATATAATATATTATATTTATATAAATATATAATA TATCATATTTATACATATATAATATATTATATTTATATAAATATATAATA TATCATATTTATATAAATATATAATATATTATATTTATATAAATATATAA TATATTATATTTATATAAATATATAATATATTATATTTATATAAATATAT AATATATATATTATATTTATATAAATATATAAAATATATAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0016 a0011c0027t0016	a0011c0027t0016g0078 a0011c0027t0016g0078	1	49	0.0204	290	c.-66 others(307): Show c.-66+8924_-66+8925insTTATATATTTTATATATTTATATAAATA TAATATATATATTATATATTTATATAAATATAATATATTATATATTTATA TAAATATAATATATTATATATTTATATAAATATAATATATTATATATTTA TATAAATATGATATATTATATATTTATATAAATATAATATATTATATATG TATAAATATGATATATTATATATTTATATAAATATAATATATTATATTTA TATAAATATAATATATTATATATTTATATAAATATAATATATTATATATT TATATAAATATA		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33						chr11	TogoVar
TERT_chr5_1248167_1300068	1273733	C C	CCACATCA others(283): Show CCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCA CCATCCAGTCACCACACATCAGACCCCACGACTGCCATCCACAGTCACCA CACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0216 a0001c0003t0001g0216	1	208	0.0048	290	c.228 others(309): Show c.2287-1454_2287-1453insTGGTGACTGTGGATGGTGATCGGTCA CAGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGT GTGGTGACTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
THEG_chr19_356747_381026	376674	T T	TCCAGCCT others(283): Show TCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCC CCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTGTGT GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCC CCCGTGCCTCCACCCAGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTC CCCCTGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	351	0.0028	290	c.-70 others(299): Show c.-705_-704insGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAC AGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGGTGGAGGC ACGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGG GGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACACAGGGGGAGAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTG GGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					649		chr19	TogoVar
THEG_chr19_356747_381026	376976	C C	CCCCTGTG others(283): Show CCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCC CCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCT CCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGC CTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCA GCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACC CAGCCTCTCCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	240	0.0042	290	c.-10 others(301): Show c.-1007_-1006insAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGGA GAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGG GAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGG GGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAG GGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCAC AGGGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGC ACAGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					951		chr19	TogoVar
THEG_chr19_356747_381026	377008	C C	CCCCACCC others(283): Show CCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCC CGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCTCC TCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	326	0.0031	290	c.-10 others(301): Show c.-1039_-1038insCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACGGGGGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCAC GGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG GCACAGAGGAGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGCACGGGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					983		chr19	TogoVar
THEG_chr19_356747_381026	377105	C C	CCCCGTGC others(283): Show CCCCGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCC CCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	209	0.0048	290	c.-11 others(301): Show c.-1136_-1135insAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTA CAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGG CACGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1080		chr19	TogoVar
THEG_chr19_356747_381026	377340	C C	CCTGTGCC others(283): Show CCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACC CAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0045 a0003c0003t0045	a0003c0003t0045g0162 a0003c0003t0045g0162	1	168	0.0060	290	c.-13 others(301): Show c.-1371_-1370insAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGA GAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAG AGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACAG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1315		chr19	TogoVar
THEG_chr19_356747_381026	377502	C C	CCCCCACC others(283): Show CCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	318	0.0031	290	c.-15 others(301): Show c.-1533_-1532insCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACA GAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGG GTGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1477		chr19	TogoVar
TH_chr11_2158929_2176815	2161578	A A	AGACCCCT others(283): Show AGACCCCTGTCCCCAGGACCCCTGTCCCCCAGGACCCCTGTCCCCAGGAC CCCTGTGCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGGACCCCTGTC CCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGAC CCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	206	0.0049	290	c.26 others(301): Show c.2654_*2655insCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGG GTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGG GACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGG GTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGAGGACAGGGGTGTGGG CACAGGGGTCCTGGGGACAGGGGTCCTGGGGGACAGGGGTCCTGGGGACA GGGGTC		TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding					2350		chr11	TogoVar
TIAM2_chr6_154990315_155262723	155028181	G G	GTGTTATA others(283): Show GTGTTATATACTATATAATATATGTACTGTGTTACATATATACTATATAA TATGTACTGTGTTACATATATACTATATATAATATATGTACTGTGTTACA TATATACTATATATAATATATGTACTGTGTTACATATATACTATATATAA TATATGTACTGTGTTATATACTATATATAATATATGTACTGTGTTACATA TATACTATATATAATATATGTACTGTGTTACATATATACTATATATAATA TATGTACTGTGTTACATATATACTATATATAATATATGTAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03209.hp2 HG02976.hp1 HG03209.hp2	a0001 a0013 a0001 a0013	a0001c0005 a0013c0034 a0001c0005 a0013c0034	a0001c0005t0016 a0013c0034t0006 a0001c0005t0016 a0013c0034t0006	a0001c0005t0016g0190 a0013c0034t0006g0063 a0001c0005t0016g0190 a0013c0034t0006g0063	2	228	0.0088	290	c.-20 others(311): Show c.-209+32694_-209+32695insTATACTATATAATATATGTACTGT GTTACATATATACTATATAATATGTACTGTGTTACATATATACTATATAT AATATATGTACTGTGTTACATATATACTATATATAATATATGTACTGTGT TACATATATACTATATATAATATATGTACTGTGTTATATACTATATATAA TATATGTACTGTGTTACATATATACTATATATAATATATGTACTGTGTTA CATATATACTATATATAATATATGTACTGTGTTACATATATACTATATAT AATATATGTACTGTTA		TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr6	TogoVar
TJAP1_chr6_43472570_43511554	43502084	T T	TCTCTCTC others(283): Show TCTCTCTCTCTGTCTCTCTCCTTTCATAGGAGGTTAGCTGGAAGATGCCT TAGAGATCATCTAATTCCTATTAAAAAACTGGATAAGTTCTGCAGGTGTG GGAATGCGGGGCCACACACACACACACACACACACACACTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCCTTTCATAGGAGGTTAGCTGGAAGATGCCTT AGAGATCATCTAATTCTTATTAGAAAACTGGATAAGTTCTGCAGGTGTGG GAATGCGGGGACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	280	0.0036	290	c.291 others(305): Show c.291-189_291-188insGTCTCTCTCCTTTCATAGGAGGTTAGCTGG AAGATGCCTTAGAGATCATCTAATTCCTATTAAAAAACTGGATAAGTTCT GCAGGTGTGGGAATGCGGGGCCACACACACACACACACACACACACACTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCCTTTCATAGGAGGTTAGCTGGA AGATGCCTTAGAGATCATCTAATTCTTATTAGAAAACTGGATAAGTTCTG CAGGTGTGGGAATGCGGGGACACACACACACACACACACACACACACACA CTCTCTCTCT		TJAP1	ENSG00000137221.14	transcript	ENST00000372449.6	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM120B_chr12_121707752_121787068	121747465	C C	CGGGAGTC others(283): Show CGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0058 a0002c0002t0009g0058	1	291	0.0034	290	c.189 others(305): Show c.189-856_189-855insTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAG		TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
TNNI3_chr19_55146767_55162732	55155935	C C	CCTGGACT others(283): Show CCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGG TCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGG GGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGG ACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTG AGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCT GGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0085 a0001c0005t0001g0085	1	312	0.0032	290	c.282 others(305): Show c.282+265_282+266insTCCCCAGCCCCTCCTCCCTGAGACCCTGAA GTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCTGGAGTCCAGGCCCCAGC CCCTCCTCCCTCAGACCCTGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCA GACCCAGGAGTCCAGTCCCCAGCCCCTCCTCCCTCAGACCCTGGAATCGA GGCCCTCAGCCCCTCCTCCCTCAGACCCTGAAGTCCAGGCCCCAGCCCCT CCTCCCTCAGACCCTGAAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCC TGGAGTCCAG		TNNI3	ENSG00000129991.13	transcript	ENST00000344887.10	protein_coding	5/7						chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GTTAGGGA others(283): Show GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTG GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCAGGGGTTAGGGAGGCCTAGGGTTAGGGAGGCCGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG03688.hp2 HG02083.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	2	167	0.0120	290	c.49 others(301): Show c.4905_*4906insACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCC CTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCTAGGCCTCCCTAACCCCTGGCCTC CCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAA CCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCG GCCTCCCCAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAA		TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding					4684		chr11	TogoVar
TPD52_chr8_80029745_80176564	80072347	G G	GTGTGTGT others(283): Show GTGTGTGTGTGTGTATGTGTGTATATACATGTACACATAGATATGCGTGT ATATACATGTACACAGATATGCGTGTATATACATGTACACATAGATATGC GTGTATATACATGTACACATAGATATGCGTGTATATACATGTACACATAG ATATGCGTGTATATACATGTACACATAGATATGCGTGTATATACATGTAC ACATAGATATGCGTGTATATACATGTACACATAGATATGCGTGTATATAC ATGTACACATAGATATGCGTGTATATACATGTACACATAGA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	194	0.0052	290	c.20- others(305): Show c.20-7755_20-7754insTCTATGTGTACATGTATATACACGCATATC TATGTGTACATGTATATACACGCATATCTATGTGTACATGTATATACACG CATATCTATGTGTACATGTATATACACGCATATCTATGTGTACATGTATA TACACGCATATCTATGTGTACATGTATATACACGCATATCTATGTGTACA TGTATATACACGCATATCTATGTGTACATGTATATACACGCATATCTGTG TACATGTATATACACGCATATCTATGTGTACATGTATATACACACATACA CACACACACA		TPD52	ENSG00000076554.16	transcript	ENST00000518937.6	protein_coding	1/7						chr8	TogoVar
TRAF3IP1_chr2_238315518_238405897	238398125	G G	GTGTAGTA others(283): Show GTGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCTGAGGTGGGGTGTAG TAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGAAGTAATGG GGAGGGGGCCCTGCAGCAGGAGGAGAGGTGGGGGGGTAGCAGGGGGATAA TGGGGAGGAGGCCCTGCAGCAGGAGCAGAGGCGGGGGGTAGCAGGGGGGT AGTAATGGGGAGGGGGCCCTGCAGCAGGAGGAGAGGTGGGGGGTAGTAAT GGGGGGGTGCCCTGCAGCAGGAGCAGAGTTGGGGGGTAGCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01943.hp1 NA18950.hp1 others(2): Show HG00733.hp2 HG01943.hp1 NA18950.hp1 NA18952.hp1 NA18962.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0005 a0005c0006t0005	a0005c0006t0005g0319 a0005c0006t0005g0322 a0005c0006t0005g0323 others(2): Show a0005c0006t0005g0319 a0005c0006t0005g0322 a0005c0006t0005g0323 a0005c0006t0005g0325 a0005c0006t0005g0326	5	205	0.0244	290	c.191 others(307): Show c.1910+446_1910+447insTGTAGTAATGGGGAGGGGGCCCTGCAGC AGGAGCTGAGGTGGGGTGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGC AGAGGTGAGGGGAAGTAATGGGGAGGGGGCCCTGCAGCAGGAGGAGAGGT GGGGGGGTAGCAGGGGGATAATGGGGAGGAGGCCCTGCAGCAGGAGCAGA GGCGGGGGGTAGCAGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGA GGAGAGGTGGGGGGTAGTAATGGGGGGGTGCCCTGCAGCAGGAGCAGAGT TGGGGGGTAGCA		TRAF3IP1	ENSG00000204104.12	transcript	ENST00000373327.5	protein_coding	16/16						chr2	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(283): Show GTATATATACATGTATATATGTATATATACGTGTATCTACATGTGTACAC ATGTATATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGT GTACACATGTGTATACGTATACATGTGTACACATGTATGTATACGTATAC ATGTGTACACATGTATGTATGTGTATATATGTATACATGTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	181	0.0055	290	c.-23 others(307): Show c.-23+2480_-23+2481insTACATGTATACATATATACACATACATA CATGTGTACACATGTATACGTATACATACATGTGTACACATGTATACGTA TACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACG TATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATA CGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTA TACGTATATACATGTGTACACATGTAGATACACGTATATATACATATATA CATGTATATATA		TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6						chr11	TogoVar
TRIOBP_chr22_37692048_37781556	37724034	G G	GTAGAGCT others(283): Show GTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAAT CCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCC CAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCTCCCAATAGAG CTGCACGAGACAACCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAG CCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACA TCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAA	frameshift_variant frameshift_variant	HIGH	HG02976.hp1 HG02976.hp1	a0037 a0037	a0037c0032 a0037c0032	a0037c0032t0041 a0037c0032t0041	a0037c0032t0041g0263 a0037c0032t0041g0263	1	113	0.0088	290	c.161 others(299): Show c.1616_1617insTCCCAATAGAGCTGCACGAGACAACCCACAACATCC TGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAG AGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCA GAGCCTCCTCTCCCAATAGAGCTACACGAGACAACCCCACAACATCCTGT GCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGC CACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAG CCTC	p.Ser others(5): Show p.Ser540fs	TRIOBP	ENSG00000100106.22	transcript	ENST00000644935.1	protein_coding	7/24	1828/10085	1617/7098	539/2365		INFO_REALIGN_3_PRIME	chr22	TogoVar
TRPC4AP_chr20_34997404_35097807	35097556	T T	TATATACA others(283): Show TATATACATATACACACGCGTGCGTATATACATATACACGCGTGCGTATA TACATATACACGCGTGCGTATATACATATACACGCGTGCGTGTATATACA TATACACGCGTGCGTGTATATACATATACACGCGTGCGTGTATATACATA TACACGCGTGCGTGTATATACATATACACGCGTGCGTGTATATACATATA CACGCGTGCGTGTATATACATATACACGCGTGCGTGTATATACATATACA CGCGTGCGTGTATATACATATACACGCGTGCGTGTATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	245	0.0041	290	c.-47 others(301): Show c.-4776_-4775insGTATATACACGCACGCGTGTATATGTATATACAC GCACGCGTGTATATGTATATACACGCACGCGTGTATATGTATATACACGC ACGCGTGTATATGTATATACACGCACGCGTGTATATGTATATACACGCAC GCGTGTATATGTATATACACGCACGCGTGTATATGTATATACACGCACGC GTGTATATGTATATACACGCACGCGTGTATATGTATATACGCACGCGTGT ATATGTATATACGCACGCGTGTATATGTATATACGCACGCGTGTGTATAT GTATAT		TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding					4750		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097556	T T	TATATACA others(283): Show TATATACATATACACACGTGTGTGTATATATACATATACACACGCGTGCG TATATACATATACACGCGTGCGTATATACATATACACGCGTGCGTATATA CATATACACGCGTGCGTATATACATATACACGCGTGCGTATATATACATA TACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATA CACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATACA CGCGTGCGTATATATACATATACACGCGTGCGTATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	245	0.0041	290	c.-47 others(301): Show c.-4776_-4775insGTATATATACGCACGCGTGTATATGTATATATAC GCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGC ACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCAC GCGTGTATATGTATATATACGCACGCGTGTATATGTATATACGCACGCGT GTATATGTATATACGCACGCGTGTATATGTATATACGCACGCGTGTATAT GTATATACGCACGCGTGTGTATATGTATATATACACACACGTGTGTATAT GTATAT		TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding					4750		chr20	TogoVar
UBE2U_chr1_64198623_64272368	64201414	A A	AGGGAGGT others(283): Show AGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCTGTCCGTGA GGGAGGTGGGGGGGGTCAGCCCCCCGCCTCGCCAGCTGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGAGGTGGGGGGAT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	328	0.0030	290	c.-26 others(301): Show c.-2637_-2636insGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAG CCGCCCTGTCCGTGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTCGCCAG CTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGC GGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGC		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding					2208		chr1	TogoVar
UBE4A_chr11_118354600_118404211	118355820	T T	TACACACA others(283): Show TACACACACACGTGTGTGTATACGCATACACACACACGTGTGTGTATACG CATACACACACGTGTGTGTATACGCATACACACACGTGTGTGTATACGCA TACACACACGTGTGTGTATACGCATACACACACGTGTGTGTATACGCATA CACACACGTGTGTGTATACGCATACACACACGTGTGTGTATACGCATACA CACACGTGTGTGTATACGCATACACACACGTGTGTGTATACGCATACACA CACGTGTGTGTATACGCATACACACACGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	318	0.0031	290	c.-38 others(301): Show c.-3896_-3895insACACACACACGTGTGTGTATACGCATACACACAC ACGTGTGTGTATACGCATACACACACGTGTGTGTATACGCATACACACAC GTGTGTGTATACGCATACACACACGTGTGTGTATACGCATACACACACGT GTGTGTATACGCATACACACACGTGTGTGTATACGCATACACACACGTGT GTGTATACGCATACACACACGTGTGTGTATACGCATACACACACGTGTGT GTATACGCATACACACACGTGTGTGTATACGCATACACACACGTGTGTGT ATACGC		UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding					3779		chr11	TogoVar
UNC13A_chr19_17596336_17693354	17631077	T T	TTCCTTCC others(283): Show TTCCTTCCTTCCTTCCTTCCTTCTTCAGATAAACTGCCCATGGCAAGTGG GTTTATTCTCTGAGTCCTCCGTCCATCCTTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCTTCAGATAAACTGCCCATGGCAAGTGGGT TTATTCTCTGAGTCCTCCGTCCATCCTTCCCTCCCTCCCTCCCTCCTTCC TTCCTTCCTTCCTTCCTTCTTCAGATAAACTGCCCATGGCAAGTGGGTTT ATTCTCTGAGTCCTCCGTCCATCCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0310 a0002c0005t0006g0310	1	310	0.0032	290	c.342 others(307): Show c.3429-328_3429-327insGGGAGGGAGGGAGGGAAGGATGGACGGA GGACTCAGAGAATAAACCCACTTGCCATGGGCAGTTTATCTGAAGAAGGA AGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAAGGATGGACGGAGG ACTCAGAGAATAAACCCACTTGCCATGGGCAGTTTATCTGAAGAAGGAAG GAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAAGGATGGACGGAGGAC TCAGAGAATAAACCCACTTGCCATGGGCAGTTTATCTGAAGAAGGAAGGA AGGAAGGAAGGA		UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43						chr19	TogoVar
UNC80_chr2_209766832_210004296	209903533	T T	TTATATAT others(283): Show TTATATATAGTATATATGTAATATATATACTATATATATTATATATAGTA TATATGTAATATATATACTATATATATTATATATAGTATATATGTAATAT ATATACTATATATATTATATATAGTATATATGTAATATATATACTATATA TAGTATATATGTAATATATATACTATATATAGTATATATGTAATATATAT ATACTATATATAGTATATATGTAATATATATATACTATATATAGTATATA TGTAATATATATACTATATATAGTATATATGTAATATATAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03540.hp1 HG02559.hp2 HG03540.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0010 a0001c0013t0002 a0001c0013t0010	a0001c0013t0002g0183 a0001c0013t0010g0181 a0001c0013t0002g0183 a0001c0013t0010g0181	2	92	0.0217	290	c.458 others(309): Show c.4582-1204_4582-1203insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATATTATATATAGTATATATGTAATATATATA CTATATATATTATATATAGTATATATGTAATATATATACTATATATAGTA TATATGTAATATATATACTATATATAGTATATATGTAATATATATATACT ATATATAGTATATATGTAATATATATATACTATATATAGTATATATGTAA TATATATACTATATATAGTATATATGTAATATATACTATATATAGTATAT ATGTAATATATATA		UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64					INFO_REALIGN_3_PRIME	chr2	TogoVar
USP37_chr2_218445251_218573351	218476407	C C	CTACAAAA others(283): Show CTACAAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	279	0.0036	290	c.204 others(307): Show c.2043+432_2043+433insCTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAATTTTTTGTA		USP37	ENSG00000135913.11	transcript	ENST00000258399.8	protein_coding	19/25						chr2	TogoVar
VCX3B_chrX_8459830_8471510	8467312	A A	AGGAAGAG others(283): Show AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGAATAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGA GGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0009 a0001c0009t0009	a0001c0009t0009g0013 a0001c0009t0009g0013	1	249	0.0040	290	c.92 others(299): Show c.929_*930insGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAG GAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAATAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGG AGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGAGGTG TGTG		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					803		chrX	TogoVar

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