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
TAFA5_chr22_48484553_48756932	48678997	C C	CCGTCCAT others(287): Show CCGTCCATCCTTCTCCTGGTTCCCCAGCTCCCCCTCCATCCCTCTCCCAT CTCCCTGTCCATCCCTCTCCTGGCTCCCTGTCCATCCCTCTCCTGTCTCC CCGTCCATCCCTCTCCCGGCTCCCTGGCTCCCCAGCTCCCCGTCCATCCC TCTCCCAGCTCTGCGTCCATCCCTCTCCCGGCTCCCTGTCCATCCCTCTC CGGTCTCCCTGTCCATCCCTCTCCCGGCTCCCCGGCTCCCCGGCTCCCCA GCTCCCCAACTCCCCAGCTCCCCGTCCATCCCTCTCCCAGCTCTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18972.hp1 NA18980.hp2 HG00673.hp2 NA18972.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0181 a0001c0001t0001g0236 a0001c0001t0008g0211 a0001c0001t0001g0181 a0001c0001t0001g0236 a0001c0001t0008g0211	3	202	0.0149	294	c.263 others(313): Show c.263-28711_263-28710insTTCTCCTGGTTCCCCAGCTCCCCCTC CATCCCTCTCCCATCTCCCTGTCCATCCCTCTCCTGGCTCCCTGTCCATC CCTCTCCTGTCTCCCCGTCCATCCCTCTCCCGGCTCCCTGGCTCCCCAGC TCCCCGTCCATCCCTCTCCCAGCTCTGCGTCCATCCCTCTCCCGGCTCCC TGTCCATCCCTCTCCGGTCTCCCTGTCCATCCCTCTCCCGGCTCCCCGGC TCCCCGGCTCCCCAGCTCCCCAACTCCCCAGCTCCCCGTCCATCCCTCTC CCAGCTCTGCGTCCATCC		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
TAS2R19_chr12_11016619_11027620	11026424	T T	TGAAAGTA others(287): Show TGAAAGTATAATTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAAAAAAAAATACAAAAAATTAGCCGGGCGTGGT AGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG03486.hp1 HG01884.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	2	338	0.0059	294	c.-38 others(305): Show c.-3854_-3853insTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTAC AGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTTTTTTTTAGT AGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTCAA TTATACTTTC		TAS2R19	ENSG00000212124.2	transcript	ENST00000390673.2	protein_coding					3805		chr12	TogoVar
TAS2R31_chr12_11025387_11036407	11026424	T T	TGAAAGTA others(287): Show TGAAAGTATAATTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAAAAAAAAATACAAAAAATTAGCCGGGCGTGGT AGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03486.hp1 HG01884.hp1 HG03486.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0000 a0003c0002t0001g0000	2	360	0.0056	294	c.39 others(305): Show c.3981_*3982insTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTAC AGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTTTTTTTTAGT AGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTCAA TTATACTTTC		TAS2R31	ENSG00000256436.1	transcript	ENST00000390675.2	protein_coding					3962		chr12	TogoVar
TBC1D32_chr6_121074494_121339480	121255520	T T	TTTATAAT others(287): Show TTTATAATTATATTTATAATTATATTTTATAATTATATTTATAATTATAT TTTATAATTATATTTATAATTATATTTTATAATTATATTTATAATTATAT TTTATAATTATATTTATAATTATATTTTATAATTATATTTTATAATTATA TTTATAATTATATTTTATAATTATATTTATAATTATATTTTATAATTATA TTTATAATTATATTTTATAATTATATTTATAATTATATTTTATAATTATA TTTATAATTATATTTTATAATTATATTTATAATTATATTTTATAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0013 a0003c0004t0003g0013	1	37	0.0270	294	c.193 others(311): Show c.1936-111_1936-110insTTATAAAATATAATTATAAATATAATTA TAAAATATAATTATAAATATAATTATAAAATATAATTATAAATATAATTA TAAAATATAATTATAAATATAATTATAAAATATAATTATAAATATAATTA TAAAATATAATTATAAATATAATTATAAAATATAATTATAAAATATAATT ATAAATATAATTATAAAATATAATTATAAATATAATTATAAAATATAATT ATAAATATAATTATAAAATATAATTATAAATATAATTATAAAATATAATT ATAAATATAATTATAA		TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	16/31						chr6	TogoVar
TBCE_chr1_235362427_235457443	235412135	C C	CATCCCTT others(287): Show CATCCCTTTCCCTTCCCATCCCTTTCCCTTCCCATCCCTTTCCCTTCTCC TCCCCTTCCCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCAT CCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCCC CTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CTCCTCTCCCTTCCCCCCTCCCCCCTCCCCCCTCCCCCCCTCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0174 a0001c0001t0008g0174	1	245	0.0041	294	c.186 others(311): Show c.186-2298_186-2297insATCCCTTTCCCTTCCCATCCCTTTCCCT TCCCATCCCTTTCCCTTCTCCTCCCCTTCCCCTCCCCTCCCGCTCCCCTC CCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCC CCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCC CCCTCCCCTCCCCCCT		TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16						chr1	TogoVar
TENM4_chr11_78647829_79446030	79139749	A A	AATATATA others(287): Show AATATATATATTATATTTATATAAGTATATAATATATATTATATTTATAT AAATATATAATATATATTATATTTATATAAATATATAATATATTATATTT ATATAAATATAATATATTATATTTATATAAATATATAATATATCATATTT ATATAAATATATAATATATCATATTTATATAAATATATAATATATCATAT TTATATAAATATATAATATATTATATTTATATAAATATATAATATATTAT ATTTATATAAATATATAATATATTATATTTATATAAATATATAAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0049 a0001c0006t0014g0049	1	47	0.0213	294	c.-66 others(311): Show c.-66+8960_-66+8961insATTATATATTTATATAAATATAATATAT TATATATTTATATAAATATAATATATTATATATTTATATAAATATAATAT ATTATATATTTATATAAATATGATATATTATATATTTATATAAATATGAT ATATTATATATTTATATAAATATGATATATTATATATTTATATAAATATA ATATATTATATTTATATAAATATAATATATTATATATTTATATAAATATA ATATATATTATATATTTATATAAATATAATATATATTATATACTTATATA AATATAATATATATAT		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33						chr11	TogoVar
TENM4_chr11_78647829_79446030	79139749	A A	AATATATA others(287): Show AATATATATATTATATTTATATAAGTATATAATATATATTATATTTATAT AAATATATAATATATATTATATTTATATAAATATATAATATATTATATTT ATATAAATATAATATATTATATTTATATAAATATATAATATATCATATTT ATATAAATATATAATATATTATATTTATATAAATATATAATATATCATAT TTATATAAATATATAATATATCATATTTATATAAATATATAATATATTAT ATTTATATAAATATATAATATATTATATTTATATAAATATATAAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0036 a0001c0011t0036	a0001c0011t0036g0045 a0001c0011t0036g0045	1	47	0.0213	294	c.-66 others(311): Show c.-66+8960_-66+8961insATTATATATTTATATAAATATAATATAT TATATATTTATATAAATATAATATATTATATATTTATATAAATATGATAT ATTATATATTTATATAAATATGATATATTATATATTTATATAAATATAAT ATATTATATATTTATATAAATATGATATATTATATATTTATATAAATATA ATATATTATATTTATATAAATATAATATATTATATATTTATATAAATATA ATATATATTATATATTTATATAAATATAATATATATTATATACTTATATA AATATAATATATATAT		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33						chr11	TogoVar
TENM4_chr11_78647829_79446030	79139749	A A	AATATATA others(287): Show AATATATATATTATATTTATATAAGTATATAATATATATTATATTTATAT AAATATATAATATATATTATATTTATATAAATATATAATATATTATATTT ATATAAATATAATATATTATATTTATATAAATATATAATATATCATATTT ATATAAATATATAATATATTATATTTATATAAATATATAATATATCATAT TTATATAAATATATAATATATTATATTTATATAAATATATAATATATTAT ATTTATATAAATATATAATATATTATATTTATATAAATATATAAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03669.hp1 HG03471.hp1 HG03669.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0015 a0001c0001 a0010c0015	a0001c0001t0001 a0010c0015t0016 a0001c0001t0001 a0010c0015t0016	a0001c0001t0001g0042 a0010c0015t0016g0084 a0001c0001t0001g0042 a0010c0015t0016g0084	2	48	0.0417	294	c.-66 others(311): Show c.-66+8960_-66+8961insATTATATATTTATATAAATATAATATAT TATATATTTATATAAATATAATATATTATATATTTATATAAATATAATAT ATTATATATTTATATAAATATGATATATTATATATTTATATAAATATAAT ATATTATATATTTATATAAATATGATATATTATATATTTATATAAATATA ATATATTATATTTATATAAATATAATATATTATATATTTATATAAATATA ATATATATTATATATTTATATAAATATAATATATATTATATACTTATATA AATATAATATATATAT		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33						chr11	TogoVar
TENM4_chr11_78647829_79446030	79139785	T T	TTATATTT others(287): Show TTATATTTATATAAATATATAATATATATTATATTTATATAAATATATAA TATATTATATTTATATAAATATAATATATTATATTTATATAAATATATAA TATATCATATTTATATAAATATATAATATATTATATTTATATAAATATAT AATATATCATATTTATATAAATATATAATATATTATATTTATATAAATAT ATAATATATTATATTTATATAAATATATAATATATTATATTTATATAAAT ATATAATATATATATTATATTTATATAAATATATAAAATATATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00140.hp1 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0055 a0001c0002t0003g0059 a0001c0002t0003g0055 a0001c0002t0003g0059	2	50	0.0400	294	c.-66 others(311): Show c.-66+8924_-66+8925insTTATATATTTTATATATTTATATAAATA TAATATATATATTATATATTTATATAAATATAATATATTATATATTTATA TAAATATAATATATTATATATTTATATAAATATAATATATTATATATTTA TATAAATATGATATATTATATATTTATATAAATATAATATATTATATATT TATATAAATATGATATATTATATATTTATATAAATATAATATATTATATT TATATAAATATAATATATTATATATTTATATAAATATAATATATATTATA TATTTATATAAATATA		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33						chr11	TogoVar
TERT_chr5_1248167_1300068	1273782	C C	CACGACCG others(287): Show CACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCC ACAGTCACCACACATCAGACCCCACGACTGCCATCCACAGTCACCACACA TCAGACCCCTGTGACCGATCACCATCCACAGTCACCACACATCAGACCCC ACGACTGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACC ATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCA CACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02129.hp2 HG00408.hp1 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0334 a0001c0002t0001g0080 a0001c0001t0001g0334 a0001c0002t0001g0080	2	245	0.0082	294	c.228 others(313): Show c.2287-1503_2287-1502insTGTGTGGTGACTGTGGATGGTGATCG GTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGT GACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTG ATCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGT		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1289857	G G	GCACGTGA others(287): Show GCACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACCCTACACGTGA CAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTGACAGGGACA CCCGGGGGCCGTGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGG CCGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGGCCGTGCCT CACTCACCCTACACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACC CTACACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACCCTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0119 a0001c0022t0001g0119	1	363	0.0028	294	c.157 others(313): Show c.1573+3455_1573+3456insTAGGGTGAGTGAGGCGCGGCCCCCGG GTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCCT GTCACGTGTAGGGTGAGTGAGGCACGGCCCCCGGGTGTCCCTGTCACGTG TAGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGA GTGAGGCACGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCA CGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCGGCCCCC GGGTGTCCCTGTCACGTG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1289922	G G	GCCGCGCC others(287): Show GCCGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGGCCGTGCC TCACTCACCCTACACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCAC CCTGCACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACCCTGCACG TGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGACAGGG ACACCCGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGG GGGCCGTGCCTCACTCACCCTGAACGTGACAGGGACACCCGGGGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	354	0.0028	294	c.157 others(313): Show c.1573+3390_1573+3391insTCCCCGGGTGTCCCTGTCACGTTCAG GGTGAGTGAGGCACGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTG AGGCGCGGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCACTG TCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGCCCCCGGG TGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGGCCCCCGGGTGTCCCTG TCACGTGTAGGGTGAGTGAGGCACGGCCCCCGGGTGTCCCTGTCACGTGT AGGGTGAGTGAGGCGCGG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1290288	G G	GGACACCC others(287): Show GGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGACAGGGACACCC GGGGGCCGTGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCG CGCCTCACTCACCCTGAACGTGACAGGGACACCCGGGGACCGCGCCTCAC TCACCCTGCACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTG CACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTGAC AGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0009 a0002c0009t0001g0009	1	357	0.0028	294	c.157 others(313): Show c.1573+3024_1573+3025insTCTGTCACGTGCAGGGTGAGTGAGGC GCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGGCCCC CGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGGCCCCCGGGTGTC CCTGTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCAC GTTCAGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCCTGTCACGTGCAGGG TGAGTGAGGCACGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAG GCACTGTCCCCGGGTGTC		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1290288	G G	GGACACCC others(287): Show GGACACCCGGGGGCCGCGCCTCACTCACCCTACACGTGACAGGGACACCC GGGGGCCGTGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCG CGCCTCACTCACCCTGAACGTGACAGGGACACCCGGGGACCGCGCCTCAC TCACCCTGCACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTG CACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTGAC AGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	357	0.0028	294	c.157 others(313): Show c.1573+3024_1573+3025insTCTGTCACGTGCAGGGTGAGTGAGGC GCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGGCCCC CGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGGCCCCCGGGTGTC CCTGTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCAC GTTCAGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCCTGTCACGTGCAGGG TGAGTGAGGCACGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAG GCGCGGCCCCCGGGTGTC		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15						chr5	TogoVar
TLK1_chr2_170985823_171165893	171033547	T T	TAAAATAA others(287): Show TAAAATAACCAAGAGTATGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGACCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	263	0.0038	294	c.117 others(313): Show c.1170-5143_1170-5142insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGGTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CATACTCTTGGTTATTTT		TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding	11/20						chr2	TogoVar
TMC6_chr17_78102397_78133755	78115614	G G	GAGGGGCG others(287): Show GAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0052 a0002c0002t0052	a0002c0002t0052g0133 a0002c0002t0052g0133	1	397	0.0025	294	c.227 others(313): Show c.2277+1654_2277+1655insGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTG CCCACTCCCTTCGCCCCT		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(287): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0323 a0001c0001t0003g0323	1	188	0.0053	294	c.227 others(313): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(287): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0103 a0002c0002t0006g0103	1	188	0.0053	294	c.227 others(313): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(287): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0399 a0003c0003t0003g0399	1	188	0.0053	294	c.227 others(313): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(287): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0307 a0001c0001t0005g0307	1	188	0.0053	294	c.227 others(313): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(287): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0017 a0001c0001t0018g0017	1	188	0.0053	294	c.227 others(313): Show c.2277+1357_2277+1650dupCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115660	G G	GGCGAAGG others(287): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0218 a0005c0004t0001g0218	1	403	0.0025	294	c.227 others(313): Show c.2277+1608_2277+1609insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115660	G G	GGCGAAGG others(287): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0002 a0011c0022t0002	a0011c0022t0002g0142 a0011c0022t0002g0142	1	403	0.0025	294	c.227 others(313): Show c.2277+1608_2277+1609insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115765	G G	GGCGAAGG others(287): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	408	0.0025	294	c.227 others(313): Show c.2277+1503_2277+1504insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115891	G G	GGCGAAGG others(287): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0047 a0004c0006t0047	a0004c0006t0047g0049 a0004c0006t0047g0049	1	425	0.0024	294	c.227 others(313): Show c.2277+1377_2277+1378insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMEM163_chr2_134450759_134724000	134608389	A A	AAGGAGGA others(287): Show AAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCCC GAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAA AGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGA ACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAA GGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTG TGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02040.hp2 HG02071.hp2 HG00558.hp2 HG02040.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0004g0045 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0004g0045	3	186	0.0161	294	c.323 others(313): Show c.323-56299_323-56298insCCTTTTCACCAGTACAGTTCTCGGGG TCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCA CAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC TCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGT TCTCGGGGTCTGTCCTCCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCT TTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTT CTCGGGGTCTGTCCTCCT		TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7						chr2	TogoVar
TMEM88B_chr1_1420871_1435255	1428120	G G	GAGAGGGG others(287): Show GAGAGGGGAGGGGAGGGGAGGGGGAGAGAGGGCAGGGGGGAGGGGAGAGG GGAGGGGAGGGGGAGAGAGGGGAGGGGAGGGGGAGAGAGGGGAGGGGAGG GGAAGAGGGGAGGGGGAGAGAGGGGAGGGGAGGGGGAGAGAGGGGAGGGG AGGGGGAGAGAGGGGAGGGGAGGGGAGGGGAGGGGAAGAGGGGAGGGGAG GGGAAGAGAGGGGAGGGGAGGGGAAGAGAGGGGAGGGGAGGGGAAGAGGG GAGGGCAGGGGAAGAGAGGGGCGGGGAGGGGAGGTGAGAGAGGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	2	0.5000	294	c.33 others(303): Show c.335_*336insAGGGGAGGGGAGGGGAGGGGGAGAGAGGGCAGGGGG GAGGGGAGAGGGGAGGGGAGGGGGAGAGAGGGGAGGGGAGGGGGAGAGAG GGGAGGGGAGGGGAAGAGGGGAGGGGGAGAGAGGGGAGGGGAGGGGGAGA GAGGGGAGGGGAGGGGGAGAGAGGGGAGGGGAGGGGAGGGGAGGGGAAGA GGGGAGGGGAGGGGAAGAGAGGGGAGGGGAGGGGAAGAGAGGGGAGGGGA GGGGAAGAGGGGAGGGCAGGGGAAGAGAGGGGCGGGGAGGGGAGGTGAGA GAGGGTAG		TMEM88B	ENSG00000205116.4	transcript	ENST00000378821.4	protein_coding	2/2				336	INFO_REALIGN_3_PRIME	chr1	TogoVar
TRAPPC12_chr2_3374694_3484565	3437639	T T	TGGATTAA others(287): Show TGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGAT TAATCCCCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAAT CCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCC AATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCA CCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCCT GGATTAATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCCA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02922.hp1 HG02723.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0031 a0001c0001 a0001c0031	a0001c0001t0001 a0001c0031t0001 a0001c0001t0001 a0001c0031t0001	a0001c0001t0001g0271 a0001c0031t0001g0269 a0001c0001t0001g0271 a0001c0031t0001g0269	2	341	0.0059	294	c.141 others(313): Show c.1418-5883_1418-5882insCCCCCCATCACCCCTGGATTAATCCC CCATCACCCCAGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATC ACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCAATCACCC CTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGA TTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAA TACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCC CATCACCCCTGGATTAAT		TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
TRIM48_chr11_55257155_55276114	55273308	T T	TTATATAT others(287): Show TTATATATAAAAATTATATATATATTATATATATATAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	149	0.0067	294	c.28 others(305): Show c.2873_*2874insTATATATAAAAATTATATATATATTATATATATA TAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTA		TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding					2195		chr11	TogoVar
TRIM49D1_chr11_89906409_89927245	89909246	A A	ATTTTATG others(287): Show ATTTTATGTAAAATATAAATATACAAATATTTGTATATTATATATTTATA TAAAATATAAATATACAAATATTTGTATATTTATATTTTATATAAAATAT AAATATACAAATATTTGTATATTTATATTTATATAAAATATAAATATACA AATATTTGTATATTATATATTTATATAAAATATAAATATACAAATATTTG TATATTATATATTTATATAAAATATAAATATATAAATATTTGTATATTAT ATATTTATATAAAATATAAATATACAAATATTTGTATATTTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	152	0.0066	294	c.23 others(305): Show c.2340_*2341insATATAAATATACAAATATTTGTATATTTATATTT TATATAAATATATAATATACAAATATTTATATATTTATATTTTATATAAA TATATAATATACAAATATTTGTATATTTATATTTTATATAAATATATAAT ATACAAATATTTGTATATTTATATTTTATATAAATATAAATATACAAATA TTTGTATATTTATATTTTATATAAAATATAAATATACAAATATTTGTATA TTTATATTTTATATAAATATATAATATACAAATATTTGTATATTTATATT TTACATAAAA		TRIM49D1	ENSG00000223417.9	transcript	ENST00000420869.3	protein_coding					2162		chr11	TogoVar
TRIM49D1_chr11_89906409_89927245	89909246	A A	ATTTTATG others(287): Show ATTTTATGTAAAATATAAATATATAAATATTTGTATATTATATATTTATA TAAAATATAAATATACAAATATTTGTATATTTATATTTATATAAAATATA AATATACAAATATTTGTATATTATATATTTATATAAAATATAAATATACA AATATTTGTATATTATATATTTATATAAAATATAAATATATAAATATTTG TATATTATATATTTATATAAAATATAAATATATAAATATTTGTATATTTA TATTTTATATAAAATATAAATATATAAATATTTGTATATTTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG03834.hp2 NA18998.hp1 HG02280.hp1 HG03834.hp2 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0012 a0002c0002t0005g0079 a0002c0002t0005g0012 a0002c0002t0005g0079	3	154	0.0195	294	c.23 others(305): Show c.2340_*2341insATATAAATATACAAATATTTATATATTTATATTT TATATAAAATATAAATATACAAATATTTATATATTTATATTTTATATAAA TATATAATATACAAATATTTATATATTTATATTTTATATAAATATATAAT ATACAAATATTTGTATATTTATATTTTATATAAATATATAATATACAAAT ATTTGTATATTTATATTTTATATAAATATAAATATACAAATATTTGTATA TTTATATTTTATATAAATATATAATATACAAATATTTATATATTTATATT TTACATAAAA		TRIM49D1	ENSG00000223417.9	transcript	ENST00000420869.3	protein_coding					2162		chr11	TogoVar
TRIM49D1_chr11_89906409_89927245	89909285	A A	ATATTTAT others(287): Show ATATTTATATAAAATATAAATATACAAATATTTGTATATTATATATTTAT ATAAAATATAAATATACAAATATTTGTATATTATATATTTATATAAAATA TAAATATATAAATATTTGTATATTATATATTTATATAAAATATAAATATA TAAATATTTGTATATTTATATTTTATATAAAATATAAATATATAAATATT TGTATATTTATATTTTATATAAAATATAAATATATAAATATTTGTATATT TATATTTTATATAAAATATAAATATATAAATATTTGTATATTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0039	1	155	0.0065	294	c.23 others(305): Show c.2301_*2302insCATAATATACAAATATTTATATATTTATATTTTA TATAAAATATAAATATACAAATATTTATATATTTATATTTTATATAAAAT ATAAATATACAAATATTTATATATTTATATTTTATATAAAATATAAATAT ACAAATATTTATATATTTATATTTTATATAAATATATAATATACAAATAT TTATATATTTATATTTTATATAAATATATAATATACAAATATTTGTATAT TTATATTTTATATAAATATATAATATACAAATATTTGTATATTTATATTT TATATAAATA		TRIM49D1	ENSG00000223417.9	transcript	ENST00000420869.3	protein_coding					2123		chr11	TogoVar
TRIM49D2_chr11_89919064_89938063	89935127	A A	ATATATTT others(287): Show ATATATTTATATTTTATATAAAATATAAATATACAAATATTTATATATTT ATATTTTATATAAAATATAAATATACAAATATTTATATATTTATATTTTA TATAAAATATAAATATACAAATATTTATATATTTATATTTTATATAAATA TATAATATACAAATATTTATATATTTATATTTTATATAAATATATAATAT ACAAATATTTGTATATTTATATTTTATATAAATATATAATATACAAATAT TTGTATATTTATATTTTATATAAATATATAATATACAAATATTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG03453.hp2 HG02976.hp1 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0042 a0002c0002t0001g0043	2	246	0.0081	294	c.22 others(305): Show c.2242_*2243insTATATTTATATTTTATATAAAATATAAATATACA AATATTTATATATTTATATTTTATATAAAATATAAATATACAAATATTTA TATATTTATATTTTATATAAAATATAAATATACAAATATTTATATATTTA TATTTTATATAAATATATAATATACAAATATTTATATATTTATATTTTAT ATAAATATATAATATACAAATATTTGTATATTTATATTTTATATAAATAT ATAATATACAAATATTTGTATATTTATATTTTATATAAATATATAATATA CAAATATTTG		TRIM49D2	ENSG00000233802.8	transcript	ENST00000623787.3	protein_coding					2065		chr11	TogoVar
TRIML1_chr4_188134441_188152743	188151565	T T	TGGGGGGT others(287): Show TGGGGGGTGAGAAGGGGAGAGTGAGAGAGGGGGGTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAG TGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTG GGGTTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGGAGTGAGAGTGGG GGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGG GTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	214	0.0047	294	c.41 others(305): Show c.4193_*4194insGGGGGGTGAGAAGGGGAGAGTGAGAGAGGGGGGT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGA GAAGGGGAGTGAGAGTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGA AGGGGAGTGAGAGTGGGGTTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAG GGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGTG		TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding					3823		chr4	TogoVar
TRIOBP_chr22_37692048_37781556	37723895	A A	ACACGAGA others(287): Show ACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGC CTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACAT CCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTACA CGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTC CAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCT GCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00280.hp2 HG00323.hp1 HG00423.hp2 others(86): Show HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02300.hp2 HG02602.hp1 HG02683.hp2 HG02895.hp1 HG03239.hp2 HG03491.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18973.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18998.hp1 NA18999.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19063.hp2 NA19066.hp2 NA19074.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0002 a0011 a0013 others(8): Show a0002 a0011 a0013 a0017 a0021 a0022 a0024 a0032 a0040 a0041 a0045	a0002c0001 a0002c0050 a0002c0054 others(13): Show a0002c0001 a0002c0050 a0002c0054 a0002c0055 a0002c0065 a0011c0026 a0011c0045 a0013c0024 a0017c0022 a0021c0016 a0022c0052 a0024c0053 a0032c0049 a0040c0066 a0041c0048 a0045c0051	a0002c0001t0002 a0002c0001t0003 a0002c0001t0026 others(26): Show a0002c0001t0002 a0002c0001t0003 a0002c0001t0026 a0002c0001t0027 a0002c0001t0028 a0002c0001t0034 a0002c0001t0042 a0002c0001t0045 a0002c0001t0046 a0002c0001t0049 a0002c0001t0053 a0002c0001t0055 a0002c0001t0056 a0002c0001t0057 a0002c0050t0001 a0002c0054t0003 a0002c0055t0028 a0002c0065t0002 a0011c0026t0002 a0011c0045t0003 a0013c0024t0002 a0017c0022t0002 a0021c0016t0004 a0022c0052t0027 a0024c0053t0003 a0032c0049t0002 a0040c0066t0054 a0041c0048t0003 a0045c0051t0002	a0002c0001t0002g0009 a0002c0001t0002g0010 a0002c0001t0002g0014 others(86): Show a0002c0001t0002g0009 a0002c0001t0002g0010 a0002c0001t0002g0014 a0002c0001t0002g0017 a0002c0001t0002g0019 a0002c0001t0002g0026 a0002c0001t0002g0030 a0002c0001t0002g0031 a0002c0001t0002g0032 a0002c0001t0002g0035 a0002c0001t0002g0036 a0002c0001t0002g0075 a0002c0001t0002g0078 a0002c0001t0002g0081 a0002c0001t0002g0082 a0002c0001t0002g0084 a0002c0001t0002g0090 a0002c0001t0002g0091 a0002c0001t0002g0092 a0002c0001t0002g0095 a0002c0001t0002g0096 a0002c0001t0002g0097 a0002c0001t0002g0098 a0002c0001t0002g0099 a0002c0001t0002g0100 a0002c0001t0002g0101 a0002c0001t0002g0103 a0002c0001t0002g0113 a0002c0001t0002g0114 a0002c0001t0002g0115 a0002c0001t0002g0116 a0002c0001t0002g0120 a0002c0001t0002g0121 a0002c0001t0002g0122 a0002c0001t0002g0133 a0002c0001t0002g0136 a0002c0001t0002g0137 a0002c0001t0002g0142 a0002c0001t0002g0143 a0002c0001t0002g0151 a0002c0001t0002g0153 a0002c0001t0002g0156 a0002c0001t0002g0279 a0002c0001t0002g0306 a0002c0001t0003g0201 a0002c0001t0003g0204 a0002c0001t0003g0211 a0002c0001t0003g0213 a0002c0001t0003g0216 a0002c0001t0003g0217 a0002c0001t0003g0223 a0002c0001t0003g0224 a0002c0001t0003g0226 a0002c0001t0003g0228 a0002c0001t0003g0230 a0002c0001t0003g0232 a0002c0001t0003g0234 a0002c0001t0026g0233 a0002c0001t0026g0237 a0002c0001t0027g0219 a0002c0001t0028g0208 a0002c0001t0034g0175 a0002c0001t0042g0012 a0002c0001t0045g0079 a0002c0001t0046g0093 a0002c0001t0049g0038 a0002c0001t0053g0207 a0002c0001t0055g0202 a0002c0001t0056g0183 a0002c0001t0057g0212 a0002c0050t0001g0146 a0002c0054t0003g0215 a0002c0055t0028g0203 a0002c0065t0002g0277 a0011c0026t0002g0033 a0011c0026t0002g0039 a0011c0045t0003g0218 a0013c0024t0002g0034 a0013c0024t0002g0037 a0017c0022t0002g0080 a0017c0022t0002g0138 a0021c0016t0004g0068 a0021c0016t0004g0069 a0022c0052t0027g0214 a0024c0053t0003g0210 a0032c0049t0002g0083 a0040c0066t0054g0209 a0041c0048t0003g0205 a0045c0051t0002g0018	89	318	0.2799	294	c.147 others(303): Show c.1477_1478insATAGAGCTACACGAGACAACCCCACAACATCCTGTG CCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCC ACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGC CTCCTCTCCCAATAGAGCTGCACGAGACAACCCCACAACATCCTGTGCCC AGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACA CGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTC CTCTCCCA	p.Pro others(307): Show p.Pro492_Ser493insAsnArgAlaThrArgAspAsnProThrThrSe rCysAlaGlnArgAspAsnProArgAlaSerArgThrSerSerProAsnA rgAlaThrArgAspAsnProArgThrSerCysAlaGlnArgAspAsnPro ArgAlaSerSerProAsnArgAlaAlaArgAspAsnProThrThrSerCy sAlaGlnArgAspAsnProArgAlaSerArgThrSerSerProAsnArgA laThrArgAspAsnProArgThrSerCysAlaGlnArgAspAsnProArg AlaSerSerPro	TRIOBP	ENSG00000100106.22	transcript	ENST00000644935.1	protein_coding	7/24	1689/10085	1478/7098	493/2365		INFO_REALIGN_3_PRIME	chr22	TogoVar
TRIOBP_chr22_37692048_37781556	37724246	A A	ACCTCCTC others(287): Show ACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGC CCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTACACGAGACA ACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACC TCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCA GCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTGCACGAGACAACC CCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03704.hp1 HG03704.hp2 HG03704.hp1 HG03704.hp2	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0003 a0010c0023t0003	a0010c0023t0003g0206 a0010c0023t0003g0225 a0010c0023t0003g0206 a0010c0023t0003g0225	2	320	0.0063	294	c.186 others(303): Show c.1865_1866insCAACCCCAGAACATCCTGCGCCCAGCGGGACAATCC CAGAGCCTCCTCTCCCAATAGAGCTGCACGAGACAACCCCACAACATCCT GTGCCCAGCGGGACAATCCCAGAGCCTCCAGAGCCTCCTCTCCCAATAGA GCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAG AGCCTCCTCTCCCAATAGAGCTACACGAGACAACCCCACAACATCCTGTG CCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCC ACACGAGA	p.Asp others(307): Show p.Asp622_Asn623insAsnProArgThrSerCysAlaGlnArgAspAs nProArgAlaSerSerProAsnArgAlaAlaArgAspAsnProThrThrS erCysAlaGlnArgAspAsnProArgAlaSerArgAlaSerSerProAsn ArgAlaThrArgAspAsnProArgThrSerCysAlaGlnArgAspAsnPr oArgAlaSerSerProAsnArgAlaThrArgAspAsnProThrThrSerC ysAlaGlnArgAspAsnProArgAlaSerArgThrSerSerProAsnArg AlaThrArgAsp	TRIOBP	ENSG00000100106.22	transcript	ENST00000644935.1	protein_coding	7/24	2077/10085	1866/7098	622/2365		INFO_REALIGN_3_PRIME	chr22	TogoVar
TTC7B_chr14_90519564_90821430	90695053	A A	ATTTTATT others(287): Show ATTTTATTTTATTATAAAATAGGTATATTTTATATACATTTTATTTTATA TAAAATAAATAAATATACATATAAAATATGTATATTTTATATACATTTTA TTATAAAACATGTATATTTTATATACATATATATGTCACACATACAATAT ATGTGACATATATGTACATAAATATATGTCACATATATTTATAACACATA TGTCACATATATTTATTATAAATATATGTATAATATATGTCACATATATT TATAACACATATGCCACATATATTTATTATAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0108 a0001c0015t0108	a0001c0015t0108g0146 a0001c0015t0108g0146	1	186	0.0054	294	c.777 others(309): Show c.777+446_777+447insAATATATATATATTTATAATAAATATATGT GGCATATGTGTTATAAATATATGTGACATATATTATACATATATTTATAA TAAATATATGTGACATATGTGTTATAAATATATGTGACATATATTTATGT ACATATATGTCACATATATTGTATGTGTGACATATATATGTATATAAAAT ATACATGTTTTATAATAAAATGTATATAAAATATACATATTTTATATGTA TATTTATTTATTTTATATAAAATAAAATGTATATAAAATATACCTATTTT ATAATAAAATAAAA		TTC7B	ENSG00000165914.15	transcript	ENST00000328459.11	protein_coding	6/19						chr14	TogoVar
TWIST2_chr2_238843085_238915534	238870364	C C	CCACACCC others(287): Show CCACACCCCACACACACCACACACACCACACACACCACACACCCCCCACA CACCACACCCCACACACACCACACACCCCACACACACATCACATACCCCA CACACCACACACCCCACACACACCACACACCCCCCACACACCACACACCC CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACA CCCCACACACACCACACAAACCACACACCCTACACACCCCACACACACCA CACACACACATCACATACCACACACACATCACATACCACACACAA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	290	0.0034	294	c.35 others(313): Show c.35+21631_*35+21632insCACACCCCACACACACCACACACACC ACACACACCACACACCCCCCACACACCACACCCCACACACACCACACACC CCACACACACATCACATACCCCACACACCACACACCCCACACACACCACA CACCCCCCACACACCACACACCCCCACACACACCACACCCCACACACACC ACACACCCCACACACACCACACACCCCACACACACCACACAAACCACACA CCCTACACACCCCACACACACCACACACACACATCACATACCACACACAC ATCACATACCACACACAA		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1						chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(287): Show ACACACACCACACCCCACACACACCCCACACACACCACACACCCCACACA CACCACACACCCCACACACACATCACATACCACACACAAACCACACACCC CACACACCCCACACACCACACACACACCACACACACATCACATACCACAC ACAAACCACACACCCTACACACACCACACACCCCACACACACCACACACC CGACACACGCCACACACACACCACACACCCCACGCACACATCACATACCA CACACAAACCACACACCCTACACACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	35	0.0286	294	c.35 others(313): Show c.35+22426_*35+22427insCCCACACACACCCCACACACACCACA CACCCCACACACACCACACACCCCACACACACATCACATACCACACACAA ACCACACACCCCACACACCCCACACACCACACACACACCACACACACATC ACATACCACACACAAACCACACACCCTACACACACCACACACCCCACACA CACCACACACCCGACACACGCCACACACACACCACACACCCCACGCACAC ATCACATACCACACACAAACCACACACCCTACACACCCCACACACCCCAC ACACACCACACACCACAC		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530566	T T	TAATAATA others(287): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATTATTATATAATAATATAATATATATAATTATATAT TATATATTATTATATATAATTATATATATTATATATATTATATATTATTA TATATAATATATATATAATTATATATATATTATATATATTATTTATAATA TATATAATTATATATATAATTATTTATAATATATATAATTATATATATTA TATATAATAAATAATAATATATAATTATATATATTATATATAATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0171 a0004c0005t0003g0171	1	215	0.0047	294	c.392 others(311): Show c.392+6152_392+6153insTATTATATATAATATATATAATTATATA TTATTATTTATTATATATAATATATATAATTATATATATTATAAATAATT ATATATATAATTATATATATTATAAATAATATATATAATATATATATAAT TATATATATATTATATATAATAATATATAATATATATAATATATATAATT ATATATAATAATATATAATATATAATTATATATATTATATTATTATATAA TAATATATAATAATATATATTATATTATTATATATAATAATATATAATAA TATATATTATATTATT		TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20						chr14	TogoVar
TYMS_chr18_652653_678578	666897	T T	TGATGGAG others(287): Show TGATGGAGATGGTGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTG ATGGTGATGGAGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGAT GGTGATGGCGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGG AGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAG ATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGAT GGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	445	0.0022	294	c.455 others(311): Show c.455-2152_455-2151insTGATGGTGATGGTGATGGAGATGGTGAT GGTGATGGAGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGG TGATGGCGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAG ATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGAT GGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGG TGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAG ATGGTGATGGTGATGG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
UCN3_chr10_5359966_5379692	5369988	T T	TGCGTGTA others(287): Show TGCGTGTATATGTGTGTGTATATGTGTGTGTATATGTGTGTGTATGTGTG TGTGTATGTGTGTGTATATGCGTGTGTATATGCGTGTGTATATGCGTGTG TATATGCGTGTGTATATGCGTGTGTATGTGTGTGTATATGTGTGTGTATA TGTGTGTGTGTATATGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTG TGTGTATATGCGTCTGTATATGCGTGTGTATATGCGTGTGTATGTGTGTG TATATATGTGTGTATATATGTGTGTGTATATGTGTGTGTATATGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01192.hp1 HG01346.hp2 others(1): Show HG01167.hp1 HG01192.hp1 HG01346.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0012 a0002c0002t0003g0101 a0002c0002t0003g0012 a0002c0002t0003g0101	4	415	0.0096	294	c.-6- others(309): Show c.-6-3726_-6-3725insCGTGTATATGTGTGTGTATATGTGTGTGTA TATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATATGCGTGTGTATATG CGTGTGTATATGCGTGTGTATATGCGTGTGTATATGCGTGTGTATGTGTG TGTATATGTGTGTGTATATGTGTGTGTGTATATGTGTGTGTATATGTGTG TGTATGTGTGTGTATGTGTGTGTATATGCGTCTGTATATGCGTGTGTATA TGCGTGTGTATGTGTGTGTATATATGTGTGTATATATGTGTGTGTATATG TGTGTGTATATGCG		UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr10	TogoVar
ULK1_chr12_131889622_131928150	131918794	G G	GGTGTGGG others(287): Show GGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTGTGGGGTGTCAGGTGTGTG GGGTGTCGGGTGTGGGGTGTAGGGTATGGGGTGTCGGGTGTGTGGGGTGT CGGGTGTGTGGGGTATAGGGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGG GGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTGGGGTGTCAGGTGTGTGGG GTGTCGGGTGTGGGGTGTAGGGTGTGTGGTGTAGGGTATGGGGTGTCGGG TGTGTGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTGTC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02735.hp1 HG03654.hp2 others(2): Show HG02056.hp1 HG02735.hp1 HG03654.hp2 NA18952.hp1 NA19080.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0018 a0001c0009t0005g0113 a0001c0009t0005g0118 others(2): Show a0001c0009t0005g0018 a0001c0009t0005g0113 a0001c0009t0005g0118 a0001c0009t0005g0120 a0001c0009t0005g0121	5	342	0.0146	294	c.251 others(311): Show c.2511+114_2511+115insTGTGGGGTGTAGAGTGTGGGGTGTAGTG TGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTGTAGGGTATGGG GTGTCGGGTGTGTGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGT GTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTG TGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTGTAGGGTGTGTGGT GTAGGGTATGGGGTGTCGGGTGTGTGGGGTGTCGGGTGTGTGGGGTATAG GGTGTGTGGGGTGTCG		ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	23/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(287): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATATATTATATATTATATTTATGTAATATATAATATTTATATATTAT ATTTATGTAATATATAATATTTATATATTATATTTATGTAATATATAATA TTTATATATTATATTTATGTAATATATAATATTTATATATTATATTTATG TAATATATAATATTTATATATTATATTTATGTAATATATAATATT	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18944.hp2 NA18952.hp1 others(3): Show HG00408.hp2 NA18944.hp2 NA18952.hp1 NA18962.hp2 NA19006.hp2 NA19057.hp2	a0002 a0002	a0002c0001 a0002c0002 a0002c0001 a0002c0002	a0002c0001t0001 a0002c0002t0001 a0002c0002t0021 a0002c0001t0001 a0002c0002t0001 a0002c0002t0021	a0002c0001t0001g0063 a0002c0001t0001g0088 a0002c0002t0001g0069 others(3): Show a0002c0001t0001g0063 a0002c0001t0001g0088 a0002c0002t0001g0069 a0002c0002t0001g0147 a0002c0002t0001g0164 a0002c0002t0021g0120	6	64	0.0938	294	c.213 others(313): Show c.2136+5973_2136+5974insAATATTATATATTACATAAATATAAT ATATAAATATTATATATTACATAAATATAATATATAAATATTATATATTA CATAAATATAATATATAAATATTATATATTACATAAATATAATATATAAA TATTATATATTACATAAATATAATATATAAATATTATATATTACATAAAT ATAATATATAATATATATTATATATTACATAAATATAATATATAATATAT ATTATATATTACATAAATATAATATATAATATATATTATATATTACATAA ATATAATATATAAATATA		UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15						chr4	TogoVar
VCX3B_chrX_8459830_8471510	8466827	G G	GGAGGGGG others(287): Show GGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGT GTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG GGGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	270	0.0037	294	c.44 others(303): Show c.444_*445insGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG GGGGAAGA		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					318		chrX	TogoVar
WRNIP1_chr6_2760393_2791952	2773769	T T	TAAAGAAT others(287): Show TAAAGAATCAATTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGT AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG01106.hp1 others(25): Show HG00140.hp2 HG00423.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01255.hp1 HG01433.hp1 HG02300.hp2 HG02738.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03486.hp1 HG03516.hp1 HG06807.hp2 NA18612.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18963.hp1 NA18979.hp2 NA18987.hp1 NA18989.hp1 NA19058.hp2 NA19070.hp2 NA20752.hp1 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0001c0024 a0005c0019 a0001c0004 a0001c0024 a0005c0019	a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 others(4): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0019 a0001c0004t0020 a0001c0024t0010 a0005c0019t0015	a0001c0004t0001g0017 a0001c0004t0001g0018 a0001c0004t0001g0059 others(22): Show a0001c0004t0001g0017 a0001c0004t0001g0018 a0001c0004t0001g0059 a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0064 a0001c0004t0001g0065 a0001c0004t0001g0066 a0001c0004t0001g0067 a0001c0004t0001g0069 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0072 a0001c0004t0001g0074 a0001c0004t0001g0075 a0001c0004t0001g0082 a0001c0004t0001g0191 a0001c0004t0001g0192 a0001c0004t0002g0068 a0001c0004t0010g0077 a0001c0004t0010g0080 a0001c0004t0019g0017 a0001c0004t0020g0193 a0001c0024t0010g0076 a0005c0019t0015g0073	28	438	0.0639	294	c.125 others(313): Show c.1256+3422_1256+3423insAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAGAATCAATTAT		WRNIP1	ENSG00000124535.16	transcript	ENST00000380773.9	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
XYLB_chr3_38341785_38419985	38358206	T T	TAAAGGTT others(287): Show TAAAGGTTTGGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGACCGACCTGGGC GACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02155.hp1 HG02572.hp1 others(2): Show HG01243.hp1 HG02155.hp1 HG02572.hp1 NA18993.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0291 a0001c0001t0002g0280 a0001c0001t0003g0218 others(2): Show a0001c0001t0001g0291 a0001c0001t0002g0280 a0001c0001t0003g0218 a0001c0001t0003g0285 a0001c0001t0004g0274	5	38	0.1316	294	c.141 others(311): Show c.141-2130_141-2129insGGTTTGGTCCCAGCACTTTGGGAGGCCG AGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGT CCGCAGACCGACCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAA		XYLB	ENSG00000093217.11	transcript	ENST00000207870.8	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr3	TogoVar
XYLB_chr3_38341785_38419985	38358206	T T	TAAAGGTT others(287): Show TAAAGGTTTGGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGC GACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp2 HG01168.hp2 others(11): Show HG00639.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01891.hp1 HG02145.hp2 HG02698.hp2 HG03041.hp1 HG03041.hp2 HG03490.hp1 HG04204.hp2 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0002g0333 a0001c0001t0002g0342 a0001c0001t0002g0343 others(11): Show a0001c0001t0002g0333 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0334 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0345 a0001c0001t0003g0346 a0001c0001t0007g0335	14	47	0.2979	294	c.141 others(311): Show c.141-2130_141-2129insGGTTTGGTCCCAGCACTTTGGGAGGCCG AGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGT CCGCAGTCCGACCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAA		XYLB	ENSG00000093217.11	transcript	ENST00000207870.8	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr3	TogoVar
YBEY_chr21_46281342_46302751	46292696	A A	ACAGCCAC others(287): Show ACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCTGGTTAGCCTGACC CATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAA ATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18983.hp1 NA18973.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0340 a0001c0001t0002g0341	2	263	0.0076	294	c.339 others(311): Show c.339+1305_339+1306insGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCTGGTTAGCCTGACC CATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAA ATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGG		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292824	G G	GTGCCCGG others(287): Show GTGCCCGGGACTGAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTGAGTGGAGTCAGCC ACACAAGTTAGACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATG CCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACA CAAGTTAGACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	309	0.0032	294	c.339 others(311): Show c.339+1373_339+1374insGAGTGGGGACAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTGAGT GGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCTTGGTTAGC CTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGA GTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCTTGGTTAGCCTG ACCCATGCCCGGGACT		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr21	TogoVar

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