Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FOXP1_chr3_70949708_71588728	71396971	T T	TATATATA others(167): Show TATATATATACACATATATATGTGTATATATATATATACACATATATATG TGTATATATATACATATATATATGTGTATATATATATATATACACACATA TATATGTGTATATATATATACATATATATGTGTATATATATATACACATA TATATGTGTATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0088 a0001c0001t0019g0088	1	96	0.0104	174	c.-16 others(195): Show c.-167-37728_-167-37727insGTGTGTATATATATATACACATAT ATATGTGTATATATATATACACATATATATGTATATATATATACACATAT ATATGTGTGTATATATATATATATACACATATATATATGTATATATATAC ACATATATATGTGTATATATATATATACACATATATATGTGTATATATAT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FTCD_chr21_46131779_46160579	46134677	C C	CAGGTTTA others(167): Show CAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCA GGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGG TTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGT GAGGGTGAGGGTGAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0008 a0001c0003t0003g0008	1	230	0.0044	174	c.23 others(185): Show c.2309_*2310insCACCCTCACCCTCACCCTCACCCTCACCCTGACC CTCACCCTAAACCTGACCCTGACCCTGACCCTGACCCTAAACCTGACCCT AAACCTGACCCTGACCCTAAACCTGACCCTCACCCTGACCCTGACCCTGA CCCTAAACCTGACCCTCACCCTCACCCTCACCCTAAACCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2101		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134701	G G	GAGGGTCA others(167): Show GAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCA GGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGG GTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGT GAGGGTGAGGGTGAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0078 a0003c0007t0002g0078	1	230	0.0044	174	c.22 others(185): Show c.2285_*2286insGACCCTGACCCTCACCCTCACCCTCACCCTCACC CTGACCCTCACCCTAAACCTGACCCTGACCCTGACCCTGACCCTAAACCT GACCCTGACCCTAAACCTGACCCTCACCCTGACCCTGACCCTGACCCTAA ACCTGACCCTCACCCTCACCCTCACCCTAAACCTGACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2077		chr21	TogoVar
FUNDC2_chrX_155021844_155065304	155028040	C C	CAGAGCAG others(167): Show CAGAGCAGACTGCTCTTATAGACTTTTATAAGAGCAGACTGCTCTTATAG ACTTTTATAAGAGCAGACTGCTCTTATAGACTTTTATAAGAGCAGACTGC TCTTATAGACTTTTATAAGAGCAGACTGCTCTTATAGACTTTTATAAGAG CAGACTGCTCTTATAGACTTTTATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0042 a0001c0001t0006g0042	1	267	0.0038	174	c.133 others(191): Show c.133+1047_133+1048insACTTTTATAAGAGCAGACTGCTCTTATA GACTTTTATAAGAGCAGACTGCTCTTATAGACTTTTATAAGAGCAGACTG CTCTTATAGACTTTTATAAGAGCAGACTGCTCTTATAGACTTTTATAAGA GCAGACTGCTCTTATAGACTTTTATAAGAGCAGACTGCTCTTATAG	FUNDC2	ENSG00000165775.18	transcript	ENST00000369498.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
FXR2_chr17_7586230_7619897	7609955	C C	CATATATA others(167): Show CATATATATACATGTATATGTATACATATATATACATGTATATGTATACA TATATATACATGTATATGTATACATATATATACATGTATATGTATACATA TATATACATGTATATGTATACATATATATATACATGTATATGTATACATA TATATATACATGTATATGTATACAT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	426	0.0024	174	c.82- others(189): Show c.82-3807_82-3806insATGTATACATATACATGTATATATATATGT ATACATATACATGTATATATATATGTATACATATACATGTATATATATGT ATACATATACATGTATATATATGTATACATATACATGTATATATATGTAT ACATATACATGTATATATATGTATACATATACATGTATATATAT	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/16			chr17	TogoVar
GALR1_chr18_77244848_77282900	77252914	C C	CCACCACC others(167): Show CCACCACCACCATCACCACCACCATCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCATCACCACCAC CACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0150 a0001c0001t0150	a0001c0001t0150g0055 a0001c0001t0150g0055	1	366	0.0027	174	c.666 others(191): Show c.666+1708_666+1709insCCATCACCACCACCATCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCATCACCACCACCACCACCACCACCACCACCATCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GATD1_chr11_762222_782487	763218	T T	TGCCCCCG others(167): Show TGCCCCCGCCCTCACCCGCCCCGCCCTCACCCGCCCCCGCCCTCACCCGC CCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCC CCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGCCCTCACCCGCCCCCG CCCTCACCCGCCCCCGCCCTCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0003 a0001c0003t0004g0003	1	430	0.0023	174	c.76 others(185): Show c.7678_*7679insGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGCGG GTGAGGGCGGGGACGGTGAGGGCGGGGATGGGTGAGGGCGGGGGCGGGTG AGGGCGGGGGCGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGCGGGTGAG GGCGGGGGCGGGTGAGGGCGGGGCGGGTGAGGGCGGGGGC	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		4003		chr11	TogoVar
GLB1L3_chr11_134271379_134324564	134308475	T T	TACCACCA others(167): Show TACCACCACCACCACCATGTCCACCACCACTACCACCACCATCACCATCA CCACCACCACCACCACCATCACCATCACCATCATCACCATCACCTCCACC ACCACCACCACTATCACCACCATCACCATCACCACCATCACCACCATCAC CATCACCACCACCACCACCATCACC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00639.hp1 others(33): Show HG00558.hp2 HG00609.hp1 HG00639.hp1 HG01069.hp1 HG01081.hp1 HG01099.hp1 HG01168.hp1 HG01169.hp1 HG01975.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp2 HG02735.hp1 HG03654.hp2 HG03704.hp2 NA18942.hp2 NA18946.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18971.hp1 NA18978.hp1 NA18979.hp2 NA18986.hp2 NA18988.hp1 NA18997.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19065.hp1 NA19074.hp2 NA19087.hp2 NA19091.hp1 NA20805.hp2 NA20905.hp2	a0001 a0008 a0001 a0008	a0001c0003 a0001c0005 a0008c0013 a0001c0003 a0001c0005 a0008c0013	a0001c0003t0001 a0001c0003t0009 a0001c0003t0016 others(2): Show a0001c0003t0001 a0001c0003t0009 a0001c0003t0016 a0001c0005t0001 a0008c0013t0001	a0001c0003t0001g0005 a0001c0003t0001g0007 a0001c0003t0001g0014 others(28): Show a0001c0003t0001g0005 a0001c0003t0001g0007 a0001c0003t0001g0014 a0001c0003t0001g0039 a0001c0003t0001g0047 a0001c0003t0001g0051 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0060 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0066 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0075 a0001c0003t0001g0077 a0001c0003t0001g0079 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0003t0001g0098 a0001c0003t0009g0064 a0001c0003t0009g0081 a0001c0003t0016g0070 a0001c0005t0001g0037 a0001c0005t0001g0045 a0001c0005t0001g0048 a0008c0013t0001g0067	36	422	0.0853	174	c.962 others(191): Show c.962-1138_962-1137insCCATGTCCACCACCACTACCACCACCAT CACCATCACCACCACCACCACCACCATCACCATCACCATCATCACCATCA CCTCCACCACCACCACCACTATCACCACCATCACCATCACCACCATCACC ACCATCACCATCACCACCACCACCACCATCACCACCACCACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLI2_chr2_120730868_120997653	120881779	T T	TGGAGGGA others(167): Show TGGAGGGAGGGCAGGTGGGGGGAGGACAGTGGGGAGAAGACAGCCGGGGG AGGACAGAGTGGGGAGGACAGTGGGGAGAGGACAGTGGTGGGGAGGGCAG GTGGGGGGAAGGTAGGTGGGGGGAAGGTAGGTGGGGGGAAGGTAGGTGGG GGAGGACAGTGGGGGAGGACAGGTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0017 a0002c0004t0017	a0002c0004t0017g0105 a0002c0004t0017g0105	1	160	0.0063	174	c.149 others(193): Show c.149-45580_149-45579insAGGGAGGGCAGGTGGGGGGAGGACAG TGGGGAGAAGACAGCCGGGGGAGGACAGAGTGGGGAGGACAGTGGGGAGA GGACAGTGGTGGGGAGGGCAGGTGGGGGGAAGGTAGGTGGGGGGAAGGTA GGTGGGGGGAAGGTAGGTGGGGGAGGACAGTGGGGGAGGACAGGTGGG	GLI2	ENSG00000074047.22	transcript	ENST00000361492.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GLI2_chr2_120730868_120997653	120881779	T T	TGGGGGAA others(167): Show TGGGGGAAGGACAGTGGAGGGAGGGCAGGTGGGGGGAGGACAGTGGGGAG AAGACAGCCGGGGGAGGACAGAGTGGGGAGGACAGTGGTGGGGAGGGCAG GTGGGGGGAAGGTAGGTGGGGGGAAGGTAGGTGGGGGGAAGGTAGGTGGG GGAGGACAGTGGGGGAGGACAGGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0022 a0009c0015t0022	a0009c0015t0022g0096 a0009c0015t0022g0096	1	160	0.0063	174	c.149 others(193): Show c.149-45578_149-45577insGAAGGACAGTGGAGGGAGGGCAGGTG GGGGGAGGACAGTGGGGAGAAGACAGCCGGGGGAGGACAGAGTGGGGAGG ACAGTGGTGGGGAGGGCAGGTGGGGGGAAGGTAGGTGGGGGGAAGGTAGG TGGGGGGAAGGTAGGTGGGGGAGGACAGTGGGGGAGGACAGGTGGGGG	GLI2	ENSG00000074047.22	transcript	ENST00000361492.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GLIPR1L2_chr12_75386089_75437688	75433540	T T	TTATATAT others(167): Show TTATATATATATATAATGGATTATATATATATATATATAATGGATTATAT ATATATATATATAATGGATTATATATATATATATAATGGATTATATATAT ATATATAATGGATTATATATATATATATATAATGGATTATATATATATAT ATAAAATGGATTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01257.hp1 HG01258.hp2 HG00280.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	3	360	0.0083	174	c.23 others(185): Show c.2379_*2380insTATATATATATATAATGGATTATATATATATATA TATAATGGATTATATATATATATATATAATGGATTATATATATATATATA ATGGATTATATATATATATATAATGGATTATATATATATATATATAATGG ATTATATATATATATATAAAATGGATTATATATATATATA	GLIPR1L2	ENSG00000180481.11	transcript	ENST00000550916.6	protein_coding		853		chr12	TogoVar
GLT6D1_chr9_135618648_135644540	135620109	A A	ACTCCCCC others(167): Show ACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTC TACTCCCCCTTCTCCCCCGTCTCCCCCATCTCCCCCTACTCCCCCTTCTC CCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTCT CCCCCTACTCCCCCGTCTCCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA19004.hp2 NA18967.hp1 NA19004.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0006 a0003c0002t0004g0180 a0003c0002t0004g0006 a0003c0002t0004g0180	2	436	0.0046	174	c.39 others(185): Show c.3987_*3988insACGGGGGAGACGGGGGAGTAGGGGGAGAAGGGGG AGTAGAGGGGGAAGGGGGAGAAGGGGGAGAAGGAGTAGGGGGAGAAGGGG GAGTAGGGGGAGATGGGGGAGACGGGGGAGAAGGGGGAGTAGAGGGGGAA GGGGGAGAAGGGGGAGAAGGAGTAGGGGGAGAAGGGGGAG	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding		3538		chr9	TogoVar
GPC5_chr13_91393621_92872237	91571886	C C	CGTGTGTG others(167): Show CGTGTGTGTATGTATACACACATATACGTGTGTGTATGTATACACACATA TACGTGTGTGTGTATACACACATATACGTGTGTGTGTATACACACATATA CGTGTGTGTGTGTATACACACATATACGTGTGTGTGTATACACACATATA CGTGTGTGTATACACACATATACGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	42	0.0238	174	c.326 others(195): Show c.326-121295_326-121294insGTATGTATACACACATATACGTGT GTGTATGTATACACACATATACGTGTGTGTGTATACACACATATACGTGT GTGTGTATACACACATATACGTGTGTGTGTGTATACACACATATACGTGT GTGTGTATACACACATATACGTGTGTGTATACACACATATACGTGTGTGT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92347920	T T	TATTATAT others(167): Show TATTATATATAATATATATATTATATATATAATATATAATATATATATTA TATATAATATATATATTATATATTATATATAATATATATAATATATATAT ATTATATATAATATATATAATATATATATTATATATATATTATATATTAT ATATAATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0017 a0001c0004t0001g0017	1	42	0.0238	174	c.156 others(197): Show c.1561+202933_1561+202934insTATATATAATATATATATTATA TATATAATATATAATATATATATTATATATAATATATATATTATATATTA TATATAATATATATAATATATATATATTATATATAATATATATAATATAT ATATTATATATATATTATATATTATATATAATATATATAATATATATATA AT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93765232	T T	TTGTCTGG others(167): Show TTGTCTGGAAAGACAACTTTCCAGATAAGCTGTCTGGAAAGACAACTTTC CAGATAAGCTGTCTGGAAAGACAACTTTCCAGATAAGCTGTCTGGAAAGA CAACTTTCCAGATAAGCTGTCTGGAAAGACAACTTTCCAGATAAGCTGTC TGGAAAGACAACTTTCCAGATAAGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0018 a0001c0001t0016g0018	1	76	0.0132	174	c.320 others(193): Show c.320-64846_320-64845insTCCAGATAAGCTGTCTGGAAAGACAA CTTTCCAGATAAGCTGTCTGGAAAGACAACTTTCCAGATAAGCTGTCTGG AAAGACAACTTTCCAGATAAGCTGTCTGGAAAGACAACTTTCCAGATAAG CTGTCTGGAAAGACAACTTTCCAGATAAGCTGTCTGGAAAGACAACTT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPHN_chr14_66503147_67186803	66683367	T T	TATATATA others(167): Show TATATATATATATATATGTTCATATATATATGTTCATATATATATGTTCA TATATATGTATATGTTCATATATATGTACATATATATGTTCATATATATA TGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATA TATATATGTTCATATATATATGTTC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	234	0.0043	174	c.143 others(191): Show c.143+2194_143+2195insATATGTTCATATATATATGTTCATATAT ATATGTTCATATATATGTATATGTTCATATATATGTACATATATATGTTC ATATATATATGTTCATATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATATATGTTCATATATATATGTTCATATATATATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPR161_chr1_168074542_168141930	168119277	T T	TACACATA others(167): Show TACACATATATATATGTATATATATGTATATATACATATATATATACATA TATATACACATATATATGTATACATATATATACATATATATGTATACATA TATATATACACATATATATACATATATATATATACATATATATGTGTACA TATATGTACATATATATATGTACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02965.hp1 HG03516.hp2 HG02622.hp1 HG02965.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0018 a0001c0001t0013 a0001c0002t0018	a0001c0001t0013g0095 a0001c0001t0013g0096 a0001c0002t0018g0098 a0001c0001t0013g0095 a0001c0001t0013g0096 a0001c0002t0018g0098	3	340	0.0088	174	c.-44 others(193): Show c.-44-14384_-44-14383insGTGTACATATATATATGTACATATAT GTACACATATATATGTATATATATATATGTATATATATGTGTATATATAT ATGTATACATATATATGTATATATATGTATACATATATATGTGTATATAT ATGTATATATATATGTATATATACATATATATACATATATATATGTGT	GPR161	ENSG00000143147.15	transcript	ENST00000682931.1	protein_coding	1/5			chr1	TogoVar
GPR161_chr1_168074542_168141930	168119277	T T	TACACATA others(167): Show TACACATATATATATGTATATATATGTATATATACATATATATATACATA TATATACATATATATATGTATACATATATATACATATATATGTATACATA TATATATACACATATATATACATATATATATATACATATATATGTGTACA TATATGTACATATATATATGTACAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0222 a0001c0002t0042g0222	1	340	0.0029	174	c.-44 others(193): Show c.-44-14384_-44-14383insGTGTACATATATATATGTACATATAT GTACACATATATATGTATATATATATATGTATATATATGTGTATATATAT ATGTATACATATATATGTATATATATGTATACATATATATATGTATATAT ATGTATATATATATGTATATATACATATATATACATATATATATGTGT	GPR161	ENSG00000143147.15	transcript	ENST00000682931.1	protein_coding	1/5			chr1	TogoVar
GRHL1_chr2_9946693_10007277	9998577	C C	CACATATA others(167): Show CACATATATGTGTACACATATATATACACATATATGTGTACACATATATA TACACATATATGTGTACACATATATATACACATATATGTGTACACATATA TATACACATATATGTGTACACATATATATACACATATATGTGTACACATA TATATACACATATATGTGTACACAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0163 a0002c0002t0002g0163	1	418	0.0024	174	c.167 others(191): Show c.1678-387_1678-386insCATATATGTGTACACATATATATACACA TATATGTGTACACATATATATACACATATATGTGTACACATATATATACA CATATATGTGTACACATATATATACACATATATGTGTACACATATATATA CACATATATGTGTACACATATATATACACATATATGTGTACACATA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998583	T T	TGTGTACA others(167): Show TGTGTACACATATATATACACATATATGTGTACACATATATATACACATA TATGTGTACACATATATATACACATATATGTGTACACATATATATACACA TATATGTGTACACATATATATACACATATATGTGTACACATATATATACA CATATATGTGTACACATATATATAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19065.hp1 HG00544.hp2 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0167 a0002c0002t0002g0169 a0002c0002t0002g0167 a0002c0002t0002g0169	2	418	0.0048	174	c.167 others(191): Show c.1678-382_1678-381insGTGTACACATATATATACACATATATGT GTACACATATATATACACATATATGTGTACACATATATATACACATATAT GTGTACACATATATATACACATATATGTGTACACATATATATACACATAT ATGTGTACACATATATATACACATATATGTGTACACATATATATAC	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15			chr2	TogoVar
GRIN1_chr9_137134154_137173756	137145135	G G	GGTGGGGA others(167): Show GGTGGGGACAGGAGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCC CCAGAGGGGTGGGGACAGGAGTGAGAGGAAGGGGGTCCCAGGGTCCAGAA AGTGTCCCCAGGGTGGTGGGGACAGGGGTGGGAGACAGGAGGGGGTCCCA GGGTCTAGAAAGTGTCCCCAGGGGT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	298	0.0034	174	c.394 others(189): Show c.394-583_394-582insAGGAGTGAGAGGAAGGGGGTCCCAGGGTCC AGAAAGTGTCCCCAGAGGGGTGGGGACAGGAGTGAGAGGAAGGGGGTCCC AGGGTCCAGAAAGTGTCCCCAGGGTGGTGGGGACAGGGGTGGGAGACAGG AGGGGGTCCCAGGGTCTAGAAAGTGTCCCCAGGGGTGTGGGGAC	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRIN3A_chr9_101564352_101743647	101659358	T T	TGTATCTA others(167): Show TGTATCTATGTATTTATTTATACATAGAAAGTATCTATGTATTTATTTAT ACATAGAAAGTATCTATGTATTTATTTATACATAGAAAGTATCTATGTAT TTATTTATACATAGAAAGTATCTATGTATTTATTTATACATAGAAAGTAT CTATGTATTTATTTATACATAGAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0055 a0001c0042t0055	a0001c0042t0055g0320 a0001c0042t0055g0320	1	324	0.0031	174	c.235 others(195): Show c.2352+10528_2352+10701dupTTTCTATGTATAAATAAATACATA GATACTTTCTATGTATAAATAAATACATAGATACTTTCTATGTATAAATA AATACATAGATACTTTCTATGTATAAATAAATACATAGATACTTTCTATG TATAAATAAATACATAGATACTTTCTATGTATAAATAAATACATAGATAC	GRIN3A	ENSG00000198785.7	transcript	ENST00000361820.6	protein_coding	3/8			chr9	TogoVar
GRIN3A_chr9_101564352_101743647	101659560	A A	AAGTATCT others(167): Show AAGTATCTATGTATTTATTTATACATAGAAAGTATCTATGTATTTATTTA TACATAGAAAGTATCTATGTATTTATTTATACATAGAAAGTATCTATGTA TTTATTTATACATAGAAAGTATCTATGTATTTATTTATATATAGAAAGTA TCTATGTATTTATTTATACATAGAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG04115.hp1 NA19075.hp2 HG01256.hp2 HG04115.hp1 NA19075.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0004 a0006c0004t0037 a0006c0004t0004 a0006c0004t0037	a0006c0004t0004g0120 a0006c0004t0004g0122 a0006c0004t0037g0205 a0006c0004t0004g0120 a0006c0004t0004g0122 a0006c0004t0037g0205	3	324	0.0093	174	c.235 others(195): Show c.2352+10499_2352+10500insGTCTATGTATAAATAAATACATAG ATACTTTCTATATATAAATAAATACATAGATACTTTCTATGTATAAATAA ATACATAGATACTTTCTATGTATAAATAAATACATAGATACTTTCTATGT ATAAATAAATACATAGATACTTTCTATGTATAAATAAATACATAGATACT	GRIN3A	ENSG00000198785.7	transcript	ENST00000361820.6	protein_coding	3/8			chr9	TogoVar
GRM5_chr11_88499642_89070982	88687571	A A	ATTATATA others(167): Show ATTATATATATATTATATATATATTATATATATATTATATATATTATATA TATATTATATATATATTATATATATAATATATATATTATATATATATTAT ATATATATTATATATATAATATATATAATATATATATTATAATATATATA TTATATATATATAATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0175 a0001c0001t0004g0175	1	184	0.0054	174	c.912 others(193): Show c.912-34169_912-34168insATATATATATATTATATATATATAAT ATATATATTATAATATATATATTATATATATTATATATATAATATATATA TAATATATATATAATATATATATTATATATATAATATATATATAATATAT ATATAATATATATAATATATATATAATATATATATAATATATATATAA	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCCC others(167): Show TCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCC CCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTC CTCCTCCCCCCTCCTCCTCCTCCCC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0030 a0013c0022t0030	a0013c0022t0030g0072 a0013c0022t0030g0072	1	290	0.0035	174	c.427 others(191): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(167): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCCTCCTCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCC CCCTCCTCCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	290	0.0035	174	c.427 others(191): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
HAVCR1_chr5_157024413_157064116	157044461	A A	AAGAAAGA others(167): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GGAAGGAAGGAAGGAAGGAAGGAAGGAGGAAGGAAGGAAAGAAAGAAAGG AAAGAAGAAAGGAGGAAGGAAGGAAGGAGAGAGAAAGAAAGACAAAGAAA GAAGGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0202 a0002c0002t0001g0202	1	352	0.0028	174	c.782 others(191): Show c.782-1780_782-1779insCTTTCTTTCTTTCTTTCTTTCCTTCTTT CTTTGTCTTTCTTTCTCTCTCCTTCCTTCCTTCCTCCTTTCTTCTTTCCT TTCTTTCTTTCCTTCCTTCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044607	G G	GAGAAAGA others(167): Show GAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG GAAGGAAGGAAAGAAAGAAAGGAAAGAAGAAAGGAGGAAGGAAGGAAGGA GAGAGAAAGAAAGACAAAGAAAGAAGGAAAGAAAGAAAGAAAGAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	352	0.0028	174	c.782 others(191): Show c.782-1926_782-1925insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTCTTTCTTTCTTTCTTTCCTTCTTTCTTTGTCTTTCTTTCTCTCTCC TTCCTTCCTTCCTCCTTTCTTCTTTCCTTTCTTTCTTTCCTTCCTTCCTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044615	G G	GAAAGAAA others(167): Show GAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGAAGGA AGGAAAGAAAGAAAGGAAAGAAGAAAGGAGGAAGGAAGGAAGGAGAGAGA AAGAAAGACAAAGAAAGAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAAAGAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02818.hp1 HG01884.hp2 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0205 a0002c0002t0001g0207 a0002c0002t0001g0205 a0002c0002t0001g0207	2	352	0.0057	174	c.782 others(191): Show c.782-1934_782-1933insTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTCTTTCTTTCTTTCTTTCCTTCTTTCTTTGTCTTTCTTTCT CTCTCCTTCCTTCCTTCCTCCTTTCTTCTTTCCTTTCTTTCTTTCCTTCC TTCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HRH3_chr20_62209960_62225278	62213257	G G	GGGGGGAA others(167): Show GGGGGGAAGGAGAGTGGGGATGGGTGGGGGAAGGAGAGCGGGGATGGGGG AGGGAGAGCAGGGATGGGGGGAAGGGAGAGCAGGGATCGGGGGGAAGGAG AGTGGGGATGGGGGGTAAGGAGAGCGGGGATGGGTGGGGGAAGGAGAGCG GGGATGGGGGAGGGAGAGCGGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	368	0.0027	174	c.27 others(185): Show c.2748_*2749insATCCCCGCTCTCCCTCCCCCATCCCCGCTCTCCT TCCCCCACCCATCCCCGCTCTCCTTACCCCCCATCCCCACTCTCCTTCCC CCCGATCCCTGCTCTCCCTTCCCCCCATCCCTGCTCTCCCTCCCCCATCC CCGCTCTCCTTCCCCCACCCATCCCCACTCTCCTTCCCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1702		chr20	TogoVar
HSF1_chr8_144286604_144319720	144313660	G G	GCGCCTCC others(167): Show GCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCACCGCCTCCCCGCCTCC CCGCACCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCGCCTCCCCGCCT CCCCGCCCCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCGCCGCCTCCC CGCGCCGCCTCCCCGCGCCGCCTCC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01975.hp1 HG02135.hp1 others(1): Show HG01515.hp1 HG01975.hp1 HG02135.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0190 a0001c0001t0001g0214 a0001c0001t0001g0261 others(1): Show a0001c0001t0001g0190 a0001c0001t0001g0214 a0001c0001t0001g0261 a0001c0001t0002g0248	4	330	0.0121	174	c.124 others(189): Show c.1248+45_1248+46insGCCTCCCCGCCTCCCCGCACCGCCTCCCCG CACCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCCCCGCCT CCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCACCGC CTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
INO80_chr15_40973880_41121280	41031555	A A	AAGGGAGG others(167): Show AAGGGAGGAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAAGG GAGGAAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGGAGGAA GGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGG GAGGGAGGGAGGAAGGGAGGAAGGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	282	0.0036	174	c.290 others(193): Show c.2908-3820_2908-3819insCCCTTCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTCCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTCCTCCCT	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INPP5A_chr10_132532787_132788480	132743140	T T	TGCTGCAC others(167): Show TGCTGCACTCAGCCCCAGCAGGGACCGGGCCCGGGAGTGAGGGCAGCCCA CCCACCAGCGCTGCACTCAGCCCCAGCAGGGACCGGGCCCGGGAGTGAGG GCAGCCCACCCACCAGCGCTGCACTCAGCCCCAGCAGGGACCGGGCCCGG GAGTGAGGGCAGCCCACCCACCAGC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	204	0.0049	174	c.733 others(191): Show c.733-6353_733-6352insCGGGCCCGGGAGTGAGGGCAGCCCACCC ACCAGCGCTGCACTCAGCCCCAGCAGGGACCGGGCCCGGGAGTGAGGGCA GCCCACCCACCAGCGCTGCACTCAGCCCCAGCAGGGACCGGGCCCGGGAG TGAGGGCAGCCCACCCACCAGCGCTGCACTCAGCCCCAGCAGGGAC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132743140	T T	TGCTGCAC others(167): Show TGCTGCACTCAGCCCCAGCAGGGACTGGGCCCGGGAGTGAGGGCAGCCCA CCCACCAGCGCTGCACTCAGCCCCAGCAGGGACCGGGCCCGGGAGTGAGG GCAGCCCACCCACCAGCGCTGCACTCAGCCCCAGCAGGGACCGGGCCCGG GAGTGAGGGCAGCCCACCCACCAGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01257.hp1 HG01928.hp1 HG00738.hp1 HG01257.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0025 a0001c0001t0002g0096 a0001c0001t0015g0140 a0001c0001t0002g0025 a0001c0001t0002g0096 a0001c0001t0015g0140	3	204	0.0147	174	c.733 others(191): Show c.733-6352_733-6179dupTGGGCCCGGGAGTGAGGGCAGCCCACCC ACCAGCGCTGCACTCAGCCCCAGCAGGGACCGGGCCCGGGAGTGAGGGCA GCCCACCCACCAGCGCTGCACTCAGCCCCAGCAGGGACCGGGCCCGGGAG TGAGGGCAGCCCACCCACCAGCGCTGCACTCAGCCCCAGCAGGGAC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132743165	T T	TGGGCCCG others(167): Show TGGGCCCGGGAGTGAGGGCAGCCCACCCACCAGCGCTGCACTCAGCCCCA GCAGGGACCGGGCCCGGGAGTGAGGGCAGCCCACCCACCAGCGCTGCACT CAGCCCCAGCAGGGACCGGGCCCGGGAGTGAGGGCAGCCCACCCACCAGC GCTGCACTCAGCCCCAGCAGGGACC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	204	0.0049	174	c.733 others(191): Show c.733-6333_733-6160dupAGCCCACCCACCAGCGCTGCACTCAGCC CCAGCAGGGACCGGGCCCGGGAGTGAGGGCAGCCCACCCACCAGCGCTGC ACTCAGCCCCAGCAGGGACCGGGCCCGGGAGTGAGGGCAGCCCACCCACC AGCGCTGCACTCAGCCCCAGCAGGGACCGGGCCCGGGAGTGAGGGC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(167): Show GGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAG GGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	204	0.0049	174	c.978 others(191): Show c.978-2481_978-2480insGCAGGGAGGAGAAACGGGCAGGGAGGAG AAACGGGCAGGGAGGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INVS_chr9_100094243_100307175	100100863	T T	TATATAGA others(167): Show TATATAGATAATATATGTATATATAATATATAGATAATATATGTATATAT AATATATAGATAATATATGTATATATAATATATAGATAATATATGTATAT ATAATATATATATAATATATGTATATATAATATATATTATATGTATATAT AATATATATTATATATGTATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0020 a0005c0006t0020	a0005c0006t0020g0099 a0005c0006t0020g0099	1	182	0.0055	174	c.-25 others(191): Show c.-25+1452_-25+1453insGATAATATATGTATATATAATATATAGA TAATATATGTATATATAATATATAGATAATATATGTATATATAATATATA GATAATATATGTATATATAATATATATATAATATATGTATATATAATATA TATTATATGTATATATAATATATATTATATATGTATATATAATATA	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
IRAG2_chr12_25047706_25113335	25077360	T T	TATGAAAT others(167): Show TATGAAATATATATATGATATATATATGATATATATATATGATATATATA TGATATATATATATGATATATATATGAGATATATATATGAGATATATATA TGAGATATATATATGAGATATATATATGATATATATATGAGATATATATA TGATATATATGAGATATATATATGA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02647.hp2 HG01168.hp1 HG01169.hp2 HG02647.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0002 a0004c0004t0001g0002	3	344	0.0087	174	c.25- others(189): Show c.25-1884_25-1883insATGAAATATATATATGATATATATATGATA TATATATATGATATATATATGATATATATATATGATATATATATGAGATA TATATATGAGATATATATATGAGATATATATATGAGATATATATATGATA TATATATGAGATATATATATGATATATATGAGATATATATATGA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21			chr12	TogoVar
ITGA3_chr17_50051110_50095481	50086190	T T	TTATATAT others(167): Show TTATATATTATACATTTATAATATATATTAGATTATATATATTATACATG TATAATATATATATTAGATTATATATATTATACATGTATAATATATATTA GATTATATATATTATACATGTATAATATATATATTAGATTATATATATTA TACATGTATAATATATATTAGATTA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03195.hp1 HG02647.hp2 HG03195.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0259 a0004c0008t0001g0260 a0004c0008t0001g0259 a0004c0008t0001g0260	2	402	0.0050	174	c.292 others(193): Show c.2920-1540_2920-1539insTTATAATATATATTAGATTATATATA TTATACATGTATAATATATATATTAGATTATATATATTATACATGTATAA TATATATTAGATTATATATATTATACATGTATAATATATATATTAGATTA TATATATTATACATGTATAATATATATTAGATTATATATATTATACAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGA3_chr17_50051110_50095481	50086211	T T	TATATATA others(167): Show TATATATATTAGATTATATATTATACATTTATAATATATATTAGATTATA TATATTATACATGTATAATATATATATTAGATTATATATATTATACATGT ATAATATATATATTAGATTATATATATTATACATGTATAATATATATATT AGATTATATATATTATACATGTATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0013 a0001c0015t0013	a0001c0015t0013g0021 a0001c0015t0013g0021	1	402	0.0025	174	c.292 others(193): Show c.2920-1513_2920-1512insTATACATTTATAATATATATTAGATT ATATATATTATACATGTATAATATATATATTAGATTATATATATTATACA TGTATAATATATATATTAGATTATATATATTATACATGTATAATATATAT ATTAGATTATATATATTATACATGTATAATATATATTAGATTATATAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
JAKMIP3_chr10_132060946_132189858	132158643	A A	AGATGCTG others(167): Show AGATGCTGTGGGAGGGGCATCTTCCTGTGTGATGCTGTGGGAGGGGCATC TTCCTGTGTGATGCTGTGGGAGGGGCATCTTCCTGTGTGATGCTGTGGGA GGGGCATCTTCCTGTGTGATGCTGTGGGAGGGGCATCTTCCTGTGTGATG CTGTGGGAGGGGCATCTTCCTGTGT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0040 a0004c0011t0040	a0004c0011t0040g0060 a0004c0011t0040g0060	1	158	0.0063	174	c.222 others(193): Show c.2221-4453_2221-4280dupGTGTGATGCTGTGGGAGGGGCATCTT CCTGTGTGATGCTGTGGGAGGGGCATCTTCCTGTGTGATGCTGTGGGAGG GGCATCTTCCTGTGTGATGCTGTGGGAGGGGCATCTTCCTGTGTGATGCT GTGGGAGGGGCATCTTCCTGTGTGATGCTGTGGGAGGGGCATCTTCCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JPH2_chr20_44101590_44192188	44134483	T T	TTATATAT others(167): Show TTATATATATATATAATATATATAATATATATTTATTAATATATAATAAA TATATATTTATAATATATATAAATAAATATATATTTATAATAAATAAATA TAAATATATATTTATTTATATAAATAAATATATATTTATTTATATAAATA AATATATATTTATTATATATAAATA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18960.hp1 NA19088.hp2 NA18941.hp1 NA18960.hp1 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0046 a0001c0003t0002 a0001c0003t0046	a0001c0003t0002g0017 a0001c0003t0002g0018 a0001c0003t0046g0019 a0001c0003t0002g0017 a0001c0003t0002g0018 a0001c0003t0046g0019	3	338	0.0089	174	c.117 others(195): Show c.1170-15861_1170-15860insTATTTATATATAATAAATATATAT TTATTTATATAAATAAATATATATTTATTTATATAAATAAATATATATTT ATATTTATTTATTATAAATATATATTTATTTATATATATTATAAATATAT ATTTATTATATATTAATAAATATATATTATATATATTATATATATATATA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KALRN_chr3_124028369_124731325	124437143	G G	GGAAGTCA others(167): Show GGAAGTCACCTCAAGATTGGTGACAGATCTTCTCATGTGATGCTAGAGAT GGGACTAGAGAAGTCACCTCAAGATTGGTGACAGATCTTCTCATGTGATG CTAGAGATGGGACTAGAGAAGTCACCTCAAGATTGGTGACAGATCTTCTC ATGTGATGCTAGAGATGGGACTAGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01496.hp2 HG02145.hp2 others(3): Show HG01123.hp2 HG01496.hp2 HG02145.hp2 HG02165.hp1 NA18906.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0015 a0001c0027 a0001c0054 others(2): Show a0001c0015 a0001c0027 a0001c0054 a0001c0063 a0003c0028	a0001c0015t0001 a0001c0027t0005 a0001c0054t0001 others(2): Show a0001c0015t0001 a0001c0027t0005 a0001c0054t0001 a0001c0063t0003 a0003c0028t0001	a0001c0015t0001g0046 a0001c0015t0001g0097 a0001c0027t0005g0032 others(3): Show a0001c0015t0001g0046 a0001c0015t0001g0097 a0001c0027t0005g0032 a0001c0054t0001g0057 a0001c0063t0003g0088 a0003c0028t0001g0033	6	116	0.0517	174	c.304 others(193): Show c.3049-1615_3049-1614insATTGGTGACAGATCTTCTCATGTGAT GCTAGAGATGGGACTAGAGAAGTCACCTCAAGATTGGTGACAGATCTTCT CATGTGATGCTAGAGATGGGACTAGAGAAGTCACCTCAAGATTGGTGACA GATCTTCTCATGTGATGCTAGAGATGGGACTAGAGAAGTCACCTCAAG	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	17/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH1_chr1_210673314_211139148	210718369	T T	TAAATATA others(167): Show TAAATATATGCATATATTTATGCATAAATATATGCATATATTTAATACAT AAATATATGCATATATTTAATGCATAAATATATGCATATATTTAATACAT AAATATATGCATATATTTAATACATAAATATATGCATATATTTAATACAT AAATATATGCATATATTTATATATA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	164	0.0061	174	c.211 others(195): Show c.2113-34232_2113-34231insTATATATAAATATATGCATATATT TATGTATTAAATATATGCATATATTTATGTATTAAATATATGCATATATT TATGTATTAAATATATGCATATATTTATGCATTAAATATATGCATATATT TATGTATTAAATATATGCATATATTTATGCATAAATATATGCATATATTT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210718369	T T	TAAATATA others(167): Show TAAATATATGCATATATTTATGCATAAATATATGCATATATTTAATACAT AAATATATGCATATATTTAATGCATAAATATATGCATATATTTAATGCAT AAATATATGCATATATTTAATACATAAATATATGCATATATTTAATACAT AAATATATGCATATATTTATATATA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	164	0.0061	174	c.211 others(195): Show c.2113-34232_2113-34231insTATATATAAATATATGCATATATT TATGTATTAAATATATGCATATATTTATGTATTAAATATATGCATATATT TATGCATTAAATATATGCATATATTTATGCATTAAATATATGCATATATT TATGTATTAAATATATGCATATATTTATGCATAAATATATGCATATATTT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210718369	T T	TAAATATA others(167): Show TAAATATATGCATATATTTATGCATAAATATATGCATATATTTAATACAT AAATATATGCATATATTTAATGCATAAATATATGCATATATTTAATGCAT AAATATATGCATATATTTAATGCATAAATATATGCATATATTTAATACAT AAATATATGCATATATTTATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	164	0.0061	174	c.211 others(195): Show c.2113-34232_2113-34231insTATATATAAATATATGCATATATT TATGTATTAAATATATGCATATATTTATGCATTAAATATATGCATATATT TATGCATTAAATATATGCATATATTTATGCATTAAATATATGCATATATT TATGTATTAAATATATGCATATATTTATGCATAAATATATGCATATATTT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178758393	T T	TATATATA others(167): Show TATATATATATATATATCCAAGGGGATATATATATATATATATATATATC CAAGGGGATATATATATATATATATATATATCCAAGGGGATATATATATA TATATATCCAAGGGGATATATATATATATATATATATATCCAAGGGGATA TATATATATATATATATCCAAGGGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	232	0.0043	174	c.-67 others(193): Show c.-67-48934_-67-48933insCCAAGGGGATATATATATATATATAT ATATATCCAAGGGGATATATATATATATATATATATATCCAAGGGGATAT ATATATATATATATCCAAGGGGATATATATATATATATATATATATCCAA GGGGATATATATATATATATATATCCAAGGGGATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KDM4B_chr19_4964113_5158598	5076200	C C	CGAGAGCG others(167): Show CGAGAGCGGCCACACTGCATCCTTTCCCCAGGGTCGTGCTCTCTCGTTGA ATGAGTGATGAGAGCGGCCACACTGCGTCCTTTCCCCAGGGTTGTGCTCT CTCGTTGACCGAGTGACGAGAGCGGCCACACTGCATCCTTTCCCCAGGGT CGTGCTCTCTCGTTGAATGAGTGAT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0005 a0005	a0005c0040 a0005c0040	a0005c0040t0008 a0005c0040t0008	a0005c0040t0008g0068 a0005c0040t0008g0068	1	270	0.0037	174	c.677 others(191): Show c.677-1150_677-1149insATCCTTTCCCCAGGGTCGTGCTCTCTCG TTGAATGAGTGATGAGAGCGGCCACACTGCGTCCTTTCCCCAGGGTTGTG CTCTCTCGTTGACCGAGTGACGAGAGCGGCCACACTGCATCCTTTCCCCA GGGTCGTGCTCTCTCGTTGAATGAGTGATGAGAGCGGCCACACTGC	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KHDRBS3_chr8_135452456_135652610	135535225	A A	AATAAACT others(167): Show AATAAACTATTATATATAGTTAAACTATATATAAACTATTATATATAGTT AAACTATATATAAACTATTATATATAGTTAAACTATATATAAACTATTAT ATATAGTTAAACTATATATAAACTATTATATATAGTTAAACTATATATAA ACTATTATATATAGTTAAACTATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp2 HG02056.hp1 others(6): Show HG00639.hp2 HG01192.hp2 HG02056.hp1 HG02132.hp2 HG04115.hp2 NA18951.hp1 NA18992.hp2 NA18994.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0031 a0001c0001t0001g0095 a0001c0001t0001g0096 others(6): Show a0001c0001t0001g0031 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0005g0033	9	342	0.0263	174	c.208 others(191): Show c.208-7379_208-7206dupAAACTATATATAAACTATTATATATAGT TAAACTATATATAAACTATTATATATAGTTAAACTATATATAAACTATTA TATATAGTTAAACTATATATAAACTATTATATATAGTTAAACTATATATA AACTATTATATATAGTTAAACTATATATAAACTATTATATATAGTT	KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
KHSRP_chr19_6408102_6429811	6429100	T T	TATATATA others(167): Show TATATATAATATATATATTATATATATGTTATATATATATATAATATATA TATTATATATATGTTACATATATATAATATATATATTATATATGTTATAT ATATATTACATATATATAATATATATATTATATATATGTTACATATATAT AATATATATATTATATATATGTTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01106.hp2 HG01346.hp2 others(1): Show HG00733.hp1 HG01106.hp2 HG01346.hp2 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0026 a0001c0001t0039 a0001c0001t0005 a0001c0001t0026 a0001c0001t0039	a0001c0001t0005g0008 a0001c0001t0005g0082 a0001c0001t0026g0099 others(1): Show a0001c0001t0005g0008 a0001c0001t0005g0082 a0001c0001t0026g0099 a0001c0001t0039g0081	4	386	0.0104	174	c.-44 others(185): Show c.-4400_-4399insGTAACATATATATAATATATATATTATATATATG TAACATATATATAATATATATATTATATATATGTAATATATATATAACAT ATATAATATATATATTATATATATGTAACATATATATAATATATATATTA TATATATATATAACATATATATAATATATATATTATATAT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4290		chr19	TogoVar

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