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
SLC12A7_chr5_1045384_1117063	1070048	C C	CCCCCAGC others(284): Show CCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTG AGCCCCCAGCACACGGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGG GCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAG CCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0002 a0001c0003t0003g0002	1	110	0.0091	291	c.224 others(310): Show c.2241+3584_2241+3585insCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCA CTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGC TGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAG TGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCGTTAAGTGTGATG CCGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTGA TGCCGTGTGCTGGGG		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073241	G G	GGCATCAC others(284): Show GGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCAC ACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC AGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCC CCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0005 a0005	a0005c0037 a0005c0037	a0005c0037t0003 a0005c0037t0003	a0005c0037t0003g0008 a0005c0037t0003g0008	1	118	0.0085	291	c.224 others(308): Show c.2241+391_2241+392insGTGTGCTGGGGGCTCACTGGGGGCTGCA TAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTG ATGCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTG TGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGG GCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTG GGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGC ATAAGTGTGATGC		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC24A3_chr20_19207642_19727926	19663437	C C	CTCCTCCT others(284): Show CTCCTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTGCACCTCCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCC TCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTC CTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp2 HG02647.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0004 a0001c0008t0021 a0001c0001t0004 a0001c0008t0021	a0001c0001t0004g0111 a0001c0008t0021g0154 a0001c0001t0004g0111 a0001c0008t0021g0154	2	90	0.0222	291	c.688 others(308): Show c.688-2426_688-2425insCCTCCTCCACTTCCTCCTCCACCTCCTC CTCTACCTCCTGCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCC TCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTC CTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCT CCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCACC TCCTCCTCCACTT		SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO3A1_chr15_91848708_92170903	91957116	A A	AATATATA others(284): Show AATATATATACTATATAGTATATATAATATATAGTATATAATATATATAA TATATATACTATATATTATATATAATATATAGTATATAATATATATAATA TATATACTATATATTATATATATAATATATAGTATATAATATATATAATA TATATACTATATATTATATATAATATATAGTATATAATATATATATAATA TATATACTATATATTATATATATAATATATAGTATATAATATATATATTA TATATACTATATATTATATATATAATATATAGTATATATAAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0021 a0001c0001t0010g0021	1	101	0.0099	291	c.646 others(310): Show c.646+40667_646+40668insCTATATAGTATATATAATATATAGTA TATAATATATATAATATATATACTATATATTATATATAATATATAGTATA TAATATATATAATATATATACTATATATTATATATATAATATATAGTATA TAATATATATAATATATATACTATATATTATATATAATATATAGTATATA ATATATATATAATATATATACTATATATTATATATATAATATATAGTATA TAATATATATATTATATATACTATATATTATATATATAATATATAGTATA TATAATATATATATA		SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
SNTG2_chr2_945849_1372613	965203	C C	CTTGGACC others(284): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAG TCCTCCTCCTTGGACCCCAATCCTCCTCCTGGCCCCCAGTCCTCCTCCTT GGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCC TCCTCCTGGTCCCCAGTCCTCCTCTGGACTCCAGTTCTCCTCCTTGGACC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTTGGACCCCAATCCTCCTCCTGGCCCCCAGTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01361.hp1 NA20752.hp1 HG01109.hp1 HG01361.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0004 a0001c0001 a0001c0002 a0004c0004	a0001c0001t0001 a0001c0002t0001 a0004c0004t0001 a0001c0001t0001 a0001c0002t0001 a0004c0004t0001	a0001c0001t0001g0063 a0001c0002t0001g0113 a0004c0004t0001g0112 a0001c0001t0001g0063 a0001c0002t0001g0113 a0004c0004t0001g0112	3	62	0.0484	291	c.72+ others(308): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGCCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCTGGACT CCAGTTCTCCTCCTTGGACCCCAGTCCTCCTCCTTGGACCCCAATCCTCC TCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGCCCCC AGTCCTCCTCCTT		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPIDR_chr8_47255938_47741306	47580668	T T	TTTAAATT others(284): Show TTTAAATTTATGCCATTCTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTT TTTTGTTTTTTTAATTGAGCAAGGCACTTGCAGGCTGTGCAGCCCTTTAT TGCCAGTCGGTGATCCAGCTTCATTTTTCTTAGCCCTTATTCAAACTGGA GTCGCTCTGGTTTGAATGCTTACCACATACCTCCCCTTTCCCTTTTACAG GAGGACCCTTAATCCTAGGGGTTGCAGAAGGATGAAGGTCCATCTTCTGT AACTTCTTCATGCTGAATAGGGGCAATGATACTCCTGCCTAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02895.hp1 HG03579.hp1 others(1): Show HG01192.hp2 HG02895.hp1 HG03579.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0005 a0003c0003t0002g0006 a0003c0003t0002g0008 others(1): Show a0003c0003t0002g0005 a0003c0003t0002g0006 a0003c0003t0002g0008 a0003c0003t0002g0009	4	213	0.0188	291	c.109 others(312): Show c.1098-15124_1098-15123insTTTTTTTTTTTTTTTTTTTTTGTT TTTTTTTTTTGTTTTTTTAATTGAGCAAGGCACTTGCAGGCTGTGCAGCC CTTTATTGCCAGTCGGTGATCCAGCTTCATTTTTCTTAGCCCTTATTCAA ACTGGAGTCGCTCTGGTTTGAATGCTTACCACATACCTCCCCTTTCCCTT TTACAGGAGGACCCTTAATCCTAGGGGTTGCAGAAGGATGAAGGTCCATC TTCTGTAACTTCTTCATGCTGAATAGGGGCAATGATACTCCTGCCTAATT AAATTTATGCCATTCTT		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr8	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(284): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGG GAGGGGGGGAGGGGAGGGGGAGGGGGGGGGAGGGGAGGGGAGGGGAGGGG GGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGGGAGGGGAGGGG AGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0231 a0002c0002t0001g0231	1	6	0.1667	291	c.138 others(310): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCCTCCCC CTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TTCCCTCCCCTCCCC		SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15						chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807423	G G	GGGGGAGG others(284): Show GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGGAGGGGA GGGGAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0088 a0003c0003t0001g0088	1	258	0.0039	291	c.138 others(310): Show c.1384-5719_1384-5718insTCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTCCCCTCCCCTCCCCTCCCCTCCCTCCCTCCCCTCCCCT CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCCCC TCCCCTCCCCTCCCC		SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15						chr1	TogoVar
SPRR2E_chr1_153088135_153099526	153097294	C C	CGAGGCGG others(284): Show CGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACG TGCTGAAACGCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGT GGCGGGCGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG TGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAGATCCCGCCACTGTA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	454	0.0022	291	c.-28 others(302): Show c.-2831_-2830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTACAGTGGCGGGATCTCCGCTCACTGCAAGCTCCGCCTCCCG GGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGG CGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGCG TTTCAGCACGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGC CCGCCTC		SPRR2E	ENSG00000203785.9	transcript	ENST00000368750.8	protein_coding					2769		chr1	TogoVar
SRXN1_chr20_641615_658200	642093	A A	AGTTGCCT others(284): Show AGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGAGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	366	0.0027	291	c.66 others(302): Show c.6620_*6621insCCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTC CCCCCACCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCCAGGCAACTCCACCCCCGCTGGGGCCCCCCCCAGGCAACTCCACCCC CGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC AGGCAAC		SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding					4521		chr20	TogoVar
STN1_chr10_103872569_103923184	103919694	T T	TAAAAAAA others(284): Show TAAAAAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	239	0.0042	291	c.-16 others(302): Show c.-1658_-1657insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGAACTACAGGCGCCCGCCACCACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCTGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTTTTTTTTTTT TTTTTTT		STN1	ENSG00000107960.12	transcript	ENST00000224950.8	protein_coding					1511		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637701	A A	AATATAAT others(284): Show AATATAATTATATATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	227	0.0044	291	c.75 others(302): Show c.7546_*7547insATATAATTATATATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAA TATAATT		SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding					4167		chr10	TogoVar
SUZ12_chr17_31932007_32006038	31957709	C C	CCAGTTTT others(284): Show CCAGTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTTTCGCCCAGGCCGGACTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCTGCCACAGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAACCAAGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	273	0.0037	291	c.456 others(308): Show c.456-8422_456-8421insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTTTCGCCCAGGCCGGACTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACAGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAACCAAGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTCAG TTTTTGTATTTTT		SUZ12	ENSG00000178691.11	transcript	ENST00000322652.10	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr17	TogoVar
TAFA5_chr22_48484553_48756932	48641037	C C	CCTGAAGC others(284): Show CCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGA ACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTACGGGACAGCTTCTGTCT GAAGCTGAGACCGTGGGGGCACCATGGCCCTTGTTGGGGCAGTGAGAACA GTGGGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAACTTCTGTCTGAA GCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTG GGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02145.hp2 HG02129.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0218 a0001c0001t0001g0112 a0001c0001t0001g0218	2	71	0.0282	291	c.113 others(308): Show c.113-5478_113-5477insCGGGACAGCTTCTGTCTGAAGCTGAGAC CGTGGGGGCACCATGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTG TTGGTGGGGGTCTGCCCTATGGGACAACTTCTGTCTGAAGCTGAGACCGT GGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTG GTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGTGGG GGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTG GGGGTCTGCCCTA		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
TAS2R8_chr12_10801051_10812286	10808239	A A	AGGATTTT others(284): Show AGGATTTTTTCTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0000 a0003c0004t0002g0000	1	397	0.0025	291	c.-12 others(302): Show c.-1260_-1259insACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATAGAA AAAATCC		TAS2R8	ENSG00000121314.3	transcript	ENST00000240615.3	protein_coding					954		chr12	TogoVar
TAS2R9_chr12_10804094_10815168	10808239	A A	AGGATTTT others(284): Show AGGATTTTTTCTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	395	0.0025	291	c.89 others(300): Show c.897_*898insACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATAGAAAA AATCC		TAS2R9	ENSG00000121381.4	transcript	ENST00000240691.4	protein_coding					854		chr12	TogoVar
TDP1_chr14_89950927_90049764	90020800	C C	CTTTTTTT others(284): Show CTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0205 a0001c0002t0004g0205	1	236	0.0042	291	c.164 others(310): Show c.1644+1396_1644+1397insTTTTTTTTTTTGAGACGGAGTCTTGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTTT TTTTTTTTTTTTTTT		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(284): Show CTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0221 a0001c0002t0010g0221	1	236	0.0042	291	c.164 others(310): Show c.1644+1396_1644+1397insTTTTTTTTTTTGAGACGGAGTCTTGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTTT TTTTTTTTTTTTTTT		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(284): Show GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACG GTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCAC TCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00423.hp2 others(130): Show HG00140.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03130.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18951.hp2 NA18956.hp2 NA18957.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0004t0002 a0002c0002t0003 a0002c0002t0010 a0002c0002t0031	a0001c0001t0001g0038 a0001c0001t0002g0013 a0001c0001t0002g0028 others(128): Show a0001c0001t0001g0038 a0001c0001t0002g0013 a0001c0001t0002g0028 a0001c0001t0002g0048 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0074 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0116 a0001c0001t0002g0137 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0180 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0233 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0065 a0001c0001t0003g0102 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0160 a0001c0001t0003g0166 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0200 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0220 a0001c0001t0003g0224 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0246 a0001c0001t0004g0008 a0001c0001t0004g0077 a0001c0001t0004g0079 a0001c0001t0004g0081 a0001c0001t0004g0113 a0001c0001t0005g0072 a0001c0001t0005g0138 a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0005g0158 a0001c0001t0005g0199 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0218 a0001c0001t0011g0168 a0001c0001t0011g0214 a0001c0001t0014g0100 a0001c0001t0016g0212 a0001c0001t0026g0236 a0001c0001t0027g0203 a0001c0001t0028g0176 a0001c0001t0029g0226 a0001c0001t0030g0215 a0001c0001t0033g0198 a0001c0004t0002g0268 a0002c0002t0003g0249 a0002c0002t0010g0266 a0002c0002t0010g0267 a0002c0002t0031g0258	133	257	0.5175	291	c.287 others(310): Show c.287-22473_287-22472insTTTTTTTTTTTGAGACGGAGTCTCGC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTC CGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC		TECRL	ENSG00000205678.8	transcript	ENST00000381210.8	protein_coding	2/11						chr4	TogoVar
TERT_chr5_1248167_1300068	1272659	G G	AACCGCCA others(284): Show AACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCGGGGACCAACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGAC CCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	368	0.0027	291	c.228 others(308): Show c.2287-379_2287-378insGTGGGGTCTGATGTGTGGTGACTGTGGA TGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGGTCCCCGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTT		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
THEG_chr19_356747_381026	377214	G G	GCCCCACC others(284): Show GCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC CCCGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	2	320	0.0063	291	c.-12 others(302): Show c.-1245_-1244insGCACACAGGGGGAGAGGCTGGGTGGGGGCACGGG GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTG GGTGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1189		chr19	TogoVar
THEG_chr19_356747_381026	377417	C C	CTCTGTGC others(284): Show CTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	139	0.0072	291	c.-14 others(302): Show c.-1448_-1447insAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGA GAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGG GCACAGA		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1392		chr19	TogoVar
THEG_chr19_356747_381026	377502	C C	CCCCACCC others(284): Show CCCCACCCAGCCTCTCCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	318	0.0031	291	c.-15 others(302): Show c.-1533_-1532insCACAGGGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACA GGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGGAGAGGCT GGGTGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1477		chr19	TogoVar
THEG_chr19_356747_381026	377606	G G	GCCCCACC others(284): Show GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCC CCGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	309	0.0032	291	c.-16 others(302): Show c.-1637_-1636insGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGG GGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGG GTGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1581		chr19	TogoVar
THEMIS_chr6_127703200_127906058	127746921	A A	ATTATTAT others(284): Show ATTATTATATAATTATATTATATATAATTATATATTATTATATAATTATA TTATATATAATTATATATTATTATATAATTATATTATATATAATTATATA TTATTATATAATTATATTATATATAATTATATATTATTATATAATTATAT TATATATAATTATATATTATTATATAATTATATTATATATAATTATATAT TATTATATAATTATATTATATATAATTATATATTATTATATAATTATATT ATATATAATTATATATTATTATATAATTATATTATATATAAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0002 a0002c0001t0001g0002	1	211	0.0047	291	c.175 others(312): Show c.1759-27099_1759-27098insATTATATATAATATAATTATATAA TAATATATAATTATATATAATATAATTATATAATAATATATAATTATATA TAATATAATTATATAATAATATATAATTATATATAATATAATTATATAAT AATATATAATTATATATAATATAATTATATAATAATATATAATTATATAT AATATAATTATATAATAATATATAATTATATATAATATAATTATATAATA ATATATAATTATATATAATATAATTATATAATAATATATAATTATATATA ATATAATTATATAATAA		THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5						chr6	TogoVar
TMEM163_chr2_134450759_134724000	134609123	A A	AAGGACAG others(284): Show AAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGACAGACCCCGAGAAC TGTACTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGG ACAGACCCCGAGAACTGTACTGGTGAAAAGGACGACAGACCCCGAGAACT GTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGA CAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGC TGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0071 a0001c0001t0004g0071	1	212	0.0047	291	c.323 others(310): Show c.323-57033_323-57032insCCTTTTCACCAGCACAGTTCTCGGGG TCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCA CAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTG TCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCGTCCTTTTCACCAGTAC AGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCT CCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGTACAGTT CTCGGGGTCTGTCCT		TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7						chr2	TogoVar
TMTC2_chr12_82681906_83139866	82876050	G G	GGTGGTGG others(284): Show GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATTAGTATTCATA ATGGTGGTGGTGGTGGTGGTGGTGGTATTAGTAATGGTGGTGGTGGTGGT GGTGGTGGTGATGATGGTGATTAGTATTCATAATGGTGGTGGTGGTGGTG GTGGTGGTATTAGTAATGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGT GGTGGTGGTGGTGATGATGGTGATTAGTATTCATAATGGTGGTGGTGGTG GTGGTGGTGGTATTAGTAATGGTGGTGGTGGTGGTGGTGGTA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0047 a0004c0007t0001g0047	1	94	0.0106	291	c.654 others(310): Show c.654+18488_654+18489insGTGGTGATGGTGATGGTGATTAGTAT TCATAATGGTGGTGGTGGTGGTGGTGGTGGTATTAGTAATGGTGGTGGTG GTGGTGGTGGTGGTGATGATGGTGATTAGTATTCATAATGGTGGTGGTGG TGGTGGTGGTGGTATTAGTAATGGTGGTGGTGGTGGTGGTGGTAGTGGTG GTGGTGGTGGTGGTGGTGATGATGGTGATTAGTATTCATAATGGTGGTGG TGGTGGTGGTGGTGGTATTAGTAATGGTGGTGGTGGTGGTGGTGGTAGTG GTGGTGGTGGTGGTG		TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(284): Show AGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGG AGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAAT AGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGAAGAGGGG AGGGGAGGGGAGGAAAGGGGAGGGGAGGAGAGAAGAGGGGAGGGGAGGGG AGGAAAGGGGAGGAAAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGAGGGG AGGGGAGGGGAGGGGAGACGAGGGGAGGGGAGGGGAGACGAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0021 a0001c0003t0001g0021	1	97	0.0103	291	c.612 others(306): Show c.612-588_612-587insCTCGTCTCCCCTCCCCTCCCCTCGTCTCCC CTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCTTCTCCCCTCCCCTTTC CTCCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCCCCTTTC CTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCTCCTCCC CTCCCCTCCCCTATTTTCCCATCCCCTCTCCTCCCCTCTTCTCCCCTCCC GTCTTCTGCCCTCCCCTCTCCTCCCCTCTTCTCCGCTCTCCTCCCCTCTT CTCCCCTCCCC		TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13						chr19	TogoVar
TOP1MT_chr8_143304324_143339880	143321813	A A	ACACGCAC others(284): Show ACACGCACGCCACACACGCACGCCAGCCACACACGCACGCCACACACGAA CGCCACACAAACGCCACACACACGAATGCCACACGCACACCACACACGCA CGCCACACACGCACGCCACACACGCACGCCACACACAGGCATGCCACACA CATGCACGCCACACACAGGCACGCCACACACGCACGCCACACACAGGCAT GCCAAACACGCACGCCACACATGCATGCCACACACACAGGCACACCACAC ACAGGCACGCCACACACACAGGCACGCCACACACATGCACGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG01168.hp2 others(8): Show HG00642.hp1 HG00733.hp2 HG01168.hp2 HG01928.hp2 HG01952.hp2 HG01981.hp1 HG02148.hp1 HG02293.hp2 HG03654.hp2 NA18941.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0097 a0001c0001t0001g0158 a0001c0001t0001g0161 others(8): Show a0001c0001t0001g0097 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0184 a0001c0001t0001g0202 a0001c0001t0001g0310 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0008t0001g0100 a0001c0008t0001g0214	11	417	0.0264	291	c.961 others(306): Show c.961-428_961-427insGCGTGCATGTGTGTGGCGTGCCTGTGTGTG TGGCGTGCCTGTGTGTGGTGTGCCTGTGTGTGTGGCATGCATGTGTGGCG TGCGTGTTTGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGT GTGGCGTGCATGTGTGTGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGT GCGTGTGTGGCGTGCGTGTGTGGTGTGCGTGTGGCATTCGTGTGTGTGGC GTTTGTGTGGCGTTCGTGTGTGGCGTGCGTGTGTGGCTGGCGTGCGTGTG TGGCGTGCGTG		TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13						chr8	TogoVar
TPCN2_chr11_69043932_69095597	69077094	T T	TGTCCCTC others(284): Show TGTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCG TGTCCCTCCACTTGCCCTCCTGCCCTCCTGTTGTGTCTGTCCACTTTCCC TCCTGCCATGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCC TCCTGTTGTGTCTGTCCACTTGCCCTCCTGCCATGTCCCTCCACCTGCCC TCCTGCCATGTCCCTCCACCTGCCCTCCTGCCACGTCCCTCCACCTGCCC TCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCTTGCCAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	258	0.0039	291	c.123 others(310): Show c.1231-1378_1231-1377insCTGCCCTCCTGCCATGTCCCTCCACC TGCCCTCCTGCCGTGTCCCTCCACTTGCCCTCCTGCCCTCCTGTTGTGTC TGTCCACTTTCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCGTGTC CCTCCACCTGCCCTCCTGTTGTGTCTGTCCACTTGCCCTCCTGCCATGTC CCTCCACCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCACGTC CCTCCACCTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCTT GCCACGTCCCTCCAC		TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	13/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
TRAF3IP1_chr2_238315518_238405897	238398125	G G	GTGTAGTA others(284): Show GTGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCTGAGGTGGGGTGTAG TAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGAAGTAATGG GGAGGGGGCCCTGCAGCAGGAGGAGAGGTGGGGGGGGTAGCAGGGGGATA ATGGGGAGGAGGCCCTGCAGCAGGAGCAGAGGCGGGGGGTAGCAGGGGGG TAGTAATGGGGAGGGGGCCCTGCAGCAGGAGGAGAGGTGGGGGGTAGTAA TGGGGGGGTGCCCTGCAGCAGGAGCAGAGTTGGGGGGTAGCA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19006.hp1 NA18949.hp2 NA19006.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0005 a0005c0006t0018 a0005c0006t0005 a0005c0006t0018	a0005c0006t0005g0328 a0005c0006t0018g0321 a0005c0006t0005g0328 a0005c0006t0018g0321	2	202	0.0099	291	c.191 others(308): Show c.1910+446_1910+447insTGTAGTAATGGGGAGGGGGCCCTGCAGC AGGAGCTGAGGTGGGGTGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGC AGAGGTGAGGGGAAGTAATGGGGAGGGGGCCCTGCAGCAGGAGGAGAGGT GGGGGGGGTAGCAGGGGGATAATGGGGAGGAGGCCCTGCAGCAGGAGCAG AGGCGGGGGGTAGCAGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGG AGGAGAGGTGGGGGGTAGTAATGGGGGGGTGCCCTGCAGCAGGAGCAGAG TTGGGGGGTAGCA		TRAF3IP1	ENSG00000204104.12	transcript	ENST00000373327.5	protein_coding	16/16						chr2	TogoVar
TRIOBP_chr22_37692048_37781556	37724034	G G	GTAGAGCT others(284): Show GTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAAT CCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCC CAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCTCCCAATAGAG CTGCACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGA GCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAAC ATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(102): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG02027.hp1 HG02055.hp1 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02293.hp2 HG02523.hp2 HG02559.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp2 HG02965.hp2 HG03017.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18956.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp2 NA18966.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18985.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp2 NA18998.hp2 NA18999.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19063.hp1 NA19066.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0009 a0028 others(4): Show a0001 a0009 a0028 a0035 a0042 a0044 a0046	a0001c0002 a0001c0006 a0001c0008 others(15): Show a0001c0002 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0019 a0001c0020 a0001c0021 a0001c0035 a0001c0036 a0001c0039 a0001c0041 a0009c0011 a0028c0038 a0035c0037 a0042c0044 a0044c0034 a0046c0043	a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 others(34): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0014 a0001c0002t0016 a0001c0002t0019 a0001c0002t0021 a0001c0002t0024 a0001c0002t0038 a0001c0002t0039 a0001c0002t0040 a0001c0002t0047 a0001c0002t0051 a0001c0002t0052 a0001c0006t0001 a0001c0006t0004 a0001c0006t0010 a0001c0006t0020 a0001c0008t0001 a0001c0009t0007 a0001c0010t0001 a0001c0010t0010 a0001c0019t0001 a0001c0020t0004 a0001c0021t0019 a0001c0021t0032 a0001c0035t0024 a0001c0036t0001 a0001c0039t0001 a0001c0041t0002 a0009c0011t0001 a0028c0038t0001 a0035c0037t0021 a0042c0044t0004 a0044c0034t0001 a0046c0043t0004	a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0027 others(100): Show a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0027 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0119 a0001c0002t0001g0124 a0001c0002t0001g0128 a0001c0002t0001g0135 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0152 a0001c0002t0001g0160 a0001c0002t0001g0166 a0001c0002t0001g0295 a0001c0002t0001g0299 a0001c0002t0004g0015 a0001c0002t0004g0045 a0001c0002t0004g0060 a0001c0002t0004g0154 a0001c0002t0004g0155 a0001c0002t0004g0294 a0001c0002t0007g0001 a0001c0002t0007g0022 a0001c0002t0007g0024 a0001c0002t0007g0104 a0001c0002t0007g0106 a0001c0002t0007g0118 a0001c0002t0008g0003 a0001c0002t0008g0005 a0001c0002t0008g0157 a0001c0002t0008g0220 a0001c0002t0008g0221 a0001c0002t0008g0235 a0001c0002t0014g0050 a0001c0002t0016g0049 a0001c0002t0016g0059 a0001c0002t0016g0064 a0001c0002t0016g0150 a0001c0002t0019g0020 a0001c0002t0019g0021 a0001c0002t0021g0298 a0001c0002t0024g0102 a0001c0002t0038g0129 a0001c0002t0039g0076 a0001c0002t0040g0054 a0001c0002t0047g0052 a0001c0002t0051g0006 a0001c0002t0052g0229 a0001c0006t0001g0061 a0001c0006t0001g0062 a0001c0006t0001g0125 a0001c0006t0004g0051 a0001c0006t0004g0053 a0001c0006t0010g0028 a0001c0006t0010g0123 a0001c0006t0010g0139 a0001c0006t0020g0105 a0001c0006t0020g0107 a0001c0006t0020g0108 a0001c0008t0001g0016 a0001c0008t0001g0066 a0001c0008t0001g0077 a0001c0009t0007g0001 a0001c0009t0007g0023 a0001c0009t0007g0025 a0001c0010t0001g0094 a0001c0010t0010g0041 a0001c0010t0010g0144 a0001c0019t0001g0029 a0001c0019t0001g0134 a0001c0020t0004g0002 a0001c0021t0019g0282 a0001c0021t0032g0292 a0001c0035t0024g0145 a0001c0036t0001g0071 a0001c0039t0001g0243 a0001c0041t0002g0007 a0009c0011t0001g0131 a0009c0011t0001g0148 a0009c0011t0001g0149 a0028c0038t0001g0126 a0035c0037t0021g0250 a0042c0044t0004g0087 a0044c0034t0001g0043 a0046c0043t0004g0047	105	217	0.4839	291	c.161 others(300): Show c.1616_1617insTCCCAATAGAGCTGCACGAGACAACCCCACAACATC CTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATA GAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCC AGAGCCTCCTCTCCCAATAGAGCTACACGAGACAACCCCACAACATCCTG TGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAG CCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGA GCCTC	p.Ser others(304): Show p.Ser539_Ser540insProAsnArgAlaAlaArgAspAsnProThrTh rSerCysAlaGlnArgAspAsnProArgAlaSerArgThrSerSerProA snArgAlaThrArgAspAsnProArgThrSerCysAlaGlnArgAspAsn ProArgAlaSerSerProAsnArgAlaThrArgAspAsnProThrThrSe rCysAlaGlnArgAspAsnProArgAlaSerArgThrSerSerProAsnA rgAlaThrArgAspAsnProArgThrSerCysAlaGlnArgAspAsnPro ArgAlaSer	TRIOBP	ENSG00000100106.22	transcript	ENST00000644935.1	protein_coding	7/24	1828/10085	1617/7098	539/2365		INFO_REALIGN_3_PRIME	chr22	TogoVar
TRIOBP_chr22_37692048_37781556	37724147	G G	GCCCAGCG others(284): Show GCCCAGCGGGACAATCCCAGAGCCTCTCCCAATAGAGCTGCACGAGACAA CCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCT CCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAG CGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTACACGAGACAACCC CACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCT CTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0056 a0001c0033t0001g0056	1	315	0.0032	291	c.161 others(300): Show c.1616_1617insTCCCAATAGAGCTGCACGAGACAACCCCACAACATC CTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATA GAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCC AGAGCCTCCTCTCCCAATAGAGCTACACGAGACAACCCCACAACATCCTG TGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAG CCACACGAGACAACCCCAGAACATCCTGCACCCAGCGGGACAATCCCAGA GCCTC	p.Ser others(304): Show p.Ser539_Ser540insProAsnArgAlaAlaArgAspAsnProThrTh rSerCysAlaGlnArgAspAsnProArgAlaSerArgThrSerSerProA snArgAlaThrArgAspAsnProArgThrSerCysAlaGlnArgAspAsn ProArgAlaSerSerProAsnArgAlaThrArgAspAsnProThrThrSe rCysAlaGlnArgAspAsnProArgAlaSerArgThrSerSerProAsnA rgAlaThrArgAspAsnProArgThrSerCysThrGlnArgAspAsnPro ArgAlaSer	TRIOBP	ENSG00000100106.22	transcript	ENST00000644935.1	protein_coding	7/24	1828/10085	1617/7098	539/2365		INFO_REALIGN_3_PRIME	chr22	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(284): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCC TTCCCCCCTCCTCCCTTCCCCCTTCCCCCTTCCTCCCTCCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTC CTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCT CCCTTATCCCTCCTCCCTTCCCCCTTCCCCCTTACTCCCTTCCCCCTTAC CCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0016 a0016	a0016c0027 a0016c0027	a0016c0027t0001 a0016c0027t0001	a0016c0027t0001g0110 a0016c0027t0001g0110	1	8	0.1250	291	c.657 others(306): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCGTCCCC CTTCCTCCCTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCTTCCTC CCTCCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCT CCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCT CCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCCCCTTAC TCCCTTCCCCCTTACCCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTCCTT TCCTTTCTCCC		TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
TUBGCP5_chr15_22994177_23044569	23042962	G G	GTGGGTAT others(284): Show GTGGGTATTATATCCCCACCTGGCCAGAGGTGCTGGGGGGGGACGTCATA ACCACACTTGGCCAGAGGTGCCGGTGGGACTTCATAACCCCACCTGGCCA GAGGTGCCGGGGGGACTTCATAACCACACCTGGCCAGAGGTGCCGGGGGG ACATCATAACCACACCTGGCCAGAGGTGCCGGGGGGACAACATAACCACA CCTGGCCAGAGGTGCCCGGAGGACTTCATAACCACACCTGGCCAGAGGTG CCGGGAGGACTTCATAACCACACCTGGCCAGAGGTGCCGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA19060.hp1 NA19081.hp2 NA18952.hp1 NA19060.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	3	307	0.0098	291	c.-34 others(302): Show c.-3420_-3419insGCCCGGCACCTCTGGCCAGGTGTGGTTATGAAGT CCTCCCGGCACCTCTGGCCAGGTGTGGTTATGAAGTCCTCCGGGCACCTC TGGCCAGGTGTGGTTATGTTGTCCCCCCGGCACCTCTGGCCAGGTGTGGT TATGATGTCCCCCCGGCACCTCTGGCCAGGTGTGGTTATGAAGTCCCCCC GGCACCTCTGGCCAGGTGGGGTTATGAAGTCCCACCGGCACCTCTGGCCA AGTGTGGTTATGACGTCCCCCCCCAGCACCTCTGGCCAGGTGGGGATATA ATACCCA		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					3394		chr15	TogoVar
TWIST2_chr2_238843085_238915534	238870175	C C	CCCACACA others(284): Show CCCACACACACCACACCCCATACACACCACACCCCACACACACCACACCC CACACACACCACACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACACCACACACCCCACACACACCACACAAACCACACACACCAC ACACCCCACACACACCACACAAACCACACACACCACACACCCCACACACA CCACACACCCCACACACACCACACACCCCACACACACCACACAAACCACA CACACCACACACCCCACACACACCACACACACACATCACATA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	325	0.0031	291	c.35 others(310): Show c.35+21452_*35+21453insCACACCCCATACACACCACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACACCCCACACACACCACACAAA CCACACACACCACACACCCCACACACACCACACAAACCACACACACCACA CACCCCACACACACCACACACCCCACACACACCACACACCCCACACACAC CACACAAACCACACACACCACACACCCCACACACACCACACACACACATC ACATACCACACACAC		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870213	C C	CCCACACA others(284): Show CCCACACACACCACACCCCATACACACCACACCCCACACACACCACACCC CACACACACCACACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACACCACACACCCCACACACACCACACAAACCACACACACCAC ACACCCCACACACACCACACAAACCACACACACCACACACCCCACACACA CCACACACCCCACACACACCACACACCCCACACACACCACACAAACCACA CACACCACACACCCCACACACACCACACACACACATCACATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18747.hp1 NA18950.hp1 HG02135.hp1 NA18747.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0077 a0001c0001t0001g0190 a0001c0001t0002g0053 a0001c0001t0001g0077 a0001c0001t0001g0190 a0001c0001t0002g0053	3	283	0.0106	291	c.35 others(310): Show c.35+21490_*35+21491insCACACCCCATACACACCACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACACCCCACACACACCACACAAA CCACACACACCACACACCCCACACACACCACACAAACCACACACACCACA CACCCCACACACACCACACACCCCACACACACCACACACCCCACACACAC CACACAAACCACACACACCACACACCCCACACACACCACACACACACATC ACATACCACACACAC		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870357	A A	ACACACAC others(284): Show ACACACACCACACCCCATACACACCACACCCCCCACACACCACACACCCC ACACACACCACACCCCACACACACCACACACACACCACACCCCACACACA CCACACACCCCCCACACACACCACACCCCATACACACCACACCCCACACA CACCACACCCCACACACACCACACACCCCACACACACCACACACCCCACA CACACCACACCCCACACACACCACACCCCATACACACCACACCCCACACA CACCACACCCCATACACACCACACCCCATACACACCACACCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	240	0.0042	291	c.35 others(310): Show c.35+21631_*35+21632insCACACCCCATACACACCACACCCCCC ACACACCACACACCCCACACACACCACACCCCACACACACCACACACACA CCACACCCCACACACACCACACACCCCCCACACACACCACACCCCATACA CACCACACCCCACACACACCACACCCCACACACACCACACACCCCACACA CACCACACACCCCACACACACCACACCCCACACACACCACACCCCATACA CACCACACCCCACACACACCACACCCCATACACACCACACCCCATACACA CCACACCCCACACAC		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870710	C C	CGACACAC others(284): Show CGACACACGCCACACACACACCATACACCCCCCACACACCACACCCCACA CACCATACACACCACACACCCCACACACACCACACACCCCACACACACCA CACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCA CACACCCCACACACACCACACAAACCACACACCCCACACACACCACACAC ACCACACACCCCACACACACCACACCCCATACACACCACACCCCACACAC ACCACACACCCCACACACACCACACACACACATCACATACCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02293.hp2 others(2): Show HG02109.hp2 HG02258.hp2 HG02293.hp2 NA18906.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0269 a0001c0001t0001g0307 others(2): Show a0001c0001t0001g0152 a0001c0001t0001g0269 a0001c0001t0001g0307 a0001c0001t0001g0328 a0001c0001t0001g0330	5	164	0.0305	291	c.35 others(310): Show c.35+21977_*35+21978insGACACACGCCACACACACACCATACA CCCCCCACACACCACACCCCACACACCATACACACCACACACCCCACACA CACCACACACCCCACACACACCACACCCCATACACACCACACCCCACACA CACCACACACCCCACACACACCACACACCCCACACACACCACACAAACCA CACACCCCACACACACCACACACACCACACACCCCACACACACCACACCC CATACACACCACACCCCACACACACCACACACCCCACACACACCACACAC ACACATCACATACCA		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1						chr2	TogoVar
TYK2_chr19_10345533_10385572	10377768	G G	GCGTGGAT others(284): Show GCGTGGATGAATGGATGGATGGATGAATGGATGGATGGGTGGGTGGATGG ATGGATGGATGGATGGGTGGGTGGGTGGATGAATGGATGGATGGATGGGT GGTGGGTGGATGAATGGATGGATGGATGGAGTGGTGGGTGGATGGTTGAT GGTGGAGGGTGGTGGGTGGATGGGATGGTGGATGGATGGATGGGGTGGAT GGATGGATGGATGGATGATGGATGGTGGATGGATGGTGGATGGGTGGATG GGTGGTGGATGGTGTGGGTGGGTGGGTGGGTGGGTGGTGGGT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0185	1	374	0.0027	291	c.193 others(306): Show c.193+445_193+446insACCCACCACCCACCCACCCACCCACCCACA CCATCCACCACCCATCCACCCATCCACCATCCATCCACCATCCATCATCC ATCCATCCATCCATCCACCCCATCCATCCATCCACCATCCCATCCACCCA CCACCCTCCACCATCAACCATCCACCCACCACTCCATCCATCCATCCATT CATCCACCCACCACCCATCCATCCATCCATTCATCCACCCACCCACCCAT CCATCCATCCATCCATCCACCCACCCATCCATCCATTCATCCATCCATCC ATTCATCCACG		TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24						chr19	TogoVar
UVSSA_chr4_1342208_1393049	1372794	T T	TGCACTCA others(284): Show TGCACTCATCTCCTGCTACTCAGCACTCACCTCCCGCGTCCCTGCACTCA CCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCCCTGCACTCACCTCCC GCGTCTCAGGGCACTCACCTCCCGCGTCCCTGCACTCACCTCCCGCGTCT CAGGGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCTCAGG GCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCTCAGGGCAC TCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCTCAGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0014 a0006c0015t0014	a0006c0015t0014g0056 a0006c0015t0014g0056	1	336	0.0030	291	c.128 others(310): Show c.1289-2563_1289-2562insTCTCCTGCTACTCAGCACTCACCTCC CGCGTCCCTGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTC CCTGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCCCTGCA CTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCTCAGGGCACTCA CCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCTCAGGGCACTCACCTC CCGCGTCTCAGGGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGC GTCTCAGGGCACTCA		UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
VCX_chrX_7838171_7849143	7844254	A A	AGGGAGGA others(284): Show AGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	257	0.0039	291	c.23 others(300): Show c.238_*239insGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGG AGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAG		VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding					112		chrX	TogoVar
VCX_chrX_7838171_7849143	7844275	A A	AGGGAGGG others(284): Show AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGTGTGGGG AGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGGGGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0002 a0007c0008t0003g0002	1	282	0.0035	291	c.25 others(300): Show c.259_*260insGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAA GAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GTGTG		VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding					133		chrX	TogoVar
WDR64_chr1_241647281_241807777	241674918	T T	TCCTTCCT others(284): Show TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTC CTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0229 a0003c0003t0003g0229	1	197	0.0051	291	c.483 others(306): Show c.483+171_483+172insCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTC CTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCC TCCTGCCTCCC		WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27						chr1	TogoVar
XYLB_chr3_38341785_38419985	38358206	T T	TAAAGGTT others(284): Show TAAAGGTTTGGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGACCGACCTGGGC GACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03130.hp2 HG03579.hp2 others(1): Show HG02965.hp1 HG03130.hp2 HG03579.hp2 HG06807.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0004 a0004c0004t0003 a0004c0004t0004	a0004c0004t0003g0277 a0004c0004t0003g0278 a0004c0004t0003g0279 others(1): Show a0004c0004t0003g0277 a0004c0004t0003g0278 a0004c0004t0003g0279 a0004c0004t0004g0276	4	37	0.1081	291	c.141 others(308): Show c.141-2130_141-2129insGGTTTGGTCCCAGCACTTTGGGAGGCCG AGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGG TGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGT CCGCAGACCGACCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAA		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(284): Show TAAAGGTTTGGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACCGCAGTCCGCAGACCGACCTGGGC GACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0128 a0002c0002t0004g0128	1	34	0.0294	291	c.141 others(308): Show c.141-2130_141-2129insGGTTTGGTCCCAGCACTTTGGGAGGCCG AGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACCGCAGT CCGCAGACCGACCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAA		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(284): Show TAAAGGTTTGGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGACCGACCTGGGC GACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0049 a0002c0002t0005g0049	1	34	0.0294	291	c.141 others(308): Show c.141-2130_141-2129insGGTTTGGTCCCAGCACTTTGGGAGGCCG AGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGT CCGCAGACCGACCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAA		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(284): Show TAAAGGTTTGGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAG GTTAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGACCGACCTGGGC GACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	34	0.0294	291	c.141 others(308): Show c.141-2130_141-2129insGGTTTGGTCCCAGCACTTTGGGAGGCCG AGGCGGGTGGATCATGAGGTTAGGAGATCGAGACCATCCTGGCTAACAAG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGT CCGCAGACCGACCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAA		XYLB	ENSG00000093217.11	transcript	ENST00000207870.8	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr3	TogoVar
YBEY_chr21_46281342_46302751	46293401	C C	CGGTTAGC others(284): Show CGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAA ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGGGACAGCCACGCAAGTTAAACTCTAGATTCCTCCCGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	383	0.0026	291	c.339 others(308): Show c.339+1959_339+1960insCGGACTCAGTGGAGTCAGCCACGCAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGC CTGACCCGTGCCC		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293401	C C	CGGTTAGC others(284): Show CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTT AAACTCTAGATTAAATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAG ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0333 a0001c0001t0002g0333	1	383	0.0026	291	c.339 others(308): Show c.339+1971_339+1972insGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCC CGGGACTCAGTGG		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr21	TogoVar

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