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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
OR1B1_chr9_122623125_122662627	122657277	T T	TAAATCTT others(374): Show TAAATCTTTACCACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGG GACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAAC AAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATG AGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTG GGGTTGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAG ATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATG TAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATA AAAAAAAAAAAAATTATAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp2 HG00673.hp1 others(31): Show HG00544.hp1 HG00621.hp2 HG00673.hp1 HG02015.hp1 HG02080.hp2 HG02132.hp2 NA18942.hp1 NA18944.hp2 NA18947.hp1 NA18951.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18991.hp1 NA18995.hp1 NA18999.hp2 NA19009.hp1 NA19054.hp2 NA19065.hp1 NA19072.hp1 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19080.hp1 NA19084.hp1 NA19086.hp1 NA19090.hp1 NA19091.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0005 a0002c0002 a0003c0003 others(1): Show a0001c0005 a0002c0002 a0003c0003 a0004c0004	a0001c0005t0001 a0002c0002t0002 a0003c0003t0003 others(1): Show a0001c0005t0001 a0002c0002t0002 a0003c0003t0003 a0004c0004t0014	a0001c0005t0001g0005 a0001c0005t0001g0027 a0001c0005t0001g0050 others(14): Show a0001c0005t0001g0005 a0001c0005t0001g0027 a0001c0005t0001g0050 a0001c0005t0001g0051 a0001c0005t0001g0246 a0001c0005t0001g0248 a0001c0005t0001g0249 a0001c0005t0001g0250 a0001c0005t0001g0252 a0002c0002t0002g0241 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0247 a0002c0002t0002g0251 a0003c0003t0003g0008 a0003c0003t0003g0242 a0004c0004t0014g0243	34	408	0.0833	381	c.-43 others(398): Show c.-438+254_-438+255insTTTTTTTTTTTTTTTATAATTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCA ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGTGGTAAAGA TTT	OR1B1	ENSG00000280094.3	transcript	ENST00000623530.2	protein_coding	1/1			chr9	TogoVar
OR1L1_chr9_122656716_122667648	122657277	T T	TAAATCTT others(374): Show TAAATCTTTACCACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGG GACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAAC AAAAAACCAAACACCACATATTCTCACTCATAGGTGGGAATTGAACAATG AGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTG GGGTTGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAG ATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATG TAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATA AAAAAAAAAAAAATTATAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG03516.hp2 HG02630.hp2 HG03516.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0000 a0002c0003t0001g0000	2	413	0.0048	381	c.-44 others(392): Show c.-4439_-4438insAAATCTTTACCACAGCCATAAAAAATGATGAGTT CATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTA AACTATCGCAAGAACAAAAAACCAAACACCACATATTCTCACTCATAGGT GGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACT CTGGGGACTGTGGTGGGGTTGGGGGAGGGGGGAGGGATAGCATTGGGAGA TATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGC ACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAA ACTTAGAGTATAATAAAAAAAAAAAAAATTATAAAAAAAAAAAAAAA	OR1L1	ENSG00000173679.2	transcript	ENST00000309623.1	protein_coding		4438		chr9	TogoVar
OR1L1_chr9_122656716_122667648	122657277	T T	TAAATCTT others(374): Show TAAATCTTTACCACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGG GACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAAC AAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATG AGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGGG GGGTTGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAG ATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATG TAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATA AAAAAAAAAAAAATTATAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0000 a0002c0003t0001g0000	1	412	0.0024	381	c.-44 others(392): Show c.-4439_-4438insAAATCTTTACCACAGCCATAAAAAATGATGAGTT CATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTA AACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGT GGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACT CTGGGGACTGTGGGGGGGTTGGGGGAGGGGGGAGGGATAGCATTGGGAGA TATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGC ACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAA ACTTAGAGTATAATAAAAAAAAAAAAAATTATAAAAAAAAAAAAAAA	OR1L1	ENSG00000173679.2	transcript	ENST00000309623.1	protein_coding		4438		chr9	TogoVar
OR1L1_chr9_122656716_122667648	122657277	T T	TAAATCTT others(374): Show TAAATCTTTACCACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGG GACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAAC AAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATG AGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTG GGGTTGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAG ATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATG TAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATA AAAAAAAAAAAAATTATAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG00673.hp2 others(28): Show HG00544.hp2 HG00621.hp2 HG00673.hp2 HG02015.hp2 HG02080.hp2 HG02132.hp1 NA18942.hp2 NA18944.hp1 NA18947.hp2 NA18951.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18995.hp1 NA18999.hp1 NA19009.hp2 NA19065.hp1 NA19072.hp2 NA19074.hp1 NA19076.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0011c0018	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0011c0018t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0002c0003t0001g0000 others(1): Show a0001c0001t0001g0000 a0001c0002t0001g0000 a0002c0003t0001g0000 a0011c0018t0001g0000	31	442	0.0701	381	c.-44 others(392): Show c.-4439_-4438insAAATCTTTACCACAGCCATAAAAAATGATGAGTT CATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTA AACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGT GGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACT CTGGGGACTGTGGTGGGGTTGGGGGAGGGGGGAGGGATAGCATTGGGAGA TATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGC ACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAA ACTTAGAGTATAATAAAAAAAAAAAAAATTATAAAAAAAAAAAAAAA	OR1L1	ENSG00000173679.2	transcript	ENST00000309623.1	protein_coding		4438		chr9	TogoVar
PAK2_chr3_196734857_196837647	196811213	T T	TTCCTTCC others(374): Show TTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC TTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCC CTCCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0177 a0001c0001t0014g0177	1	161	0.0062	381	c.773 others(396): Show c.773+563_773+564insTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTCCCTCCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTC C	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAPPA_chr9_116148791_116407321	116222632	A A	AGACCTGA others(374): Show AGACCTGAATCAAGTGGTCTCTTGTGATCTTTCCCCCATATAAACTCCTT GAGGAGCTCAAGCTCTAAGGGGACCAGATTTAAAAGGGTCATGAAAATAG ACCAAGGTATTTGCATCTATTTTGGAATTTTGCCATAATTCAGGGAAGAT TAATGTATTACCTCTACTCCCAGCCCTTCTTTGGGATGCTTCATCTAGTA ATGGTGATATATTAATGATGGTAAAAATAATAACCATGCTAATAATTAGT TAATATTACTTTATTGTAGTTGCTGGGATCTATCAAGTGCTTACTATGTG ATGGATTCTATACTAAATGCTTTACATACAGAATCTCATTTAATCTTTCT GGTAACCTTGTACAAAACAAATCATCTTCCTC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0037 a0003c0007t0037	a0003c0007t0037g0138 a0003c0007t0037g0138	1	232	0.0043	381	c.211 others(400): Show c.2111+2503_2111+2504insGACCTGAATCAAGTGGTCTCTTGTGA TCTTTCCCCCATATAAACTCCTTGAGGAGCTCAAGCTCTAAGGGGACCAG ATTTAAAAGGGTCATGAAAATAGACCAAGGTATTTGCATCTATTTTGGAA TTTTGCCATAATTCAGGGAAGATTAATGTATTACCTCTACTCCCAGCCCT TCTTTGGGATGCTTCATCTAGTAATGGTGATATATTAATGATGGTAAAAA TAATAACCATGCTAATAATTAGTTAATATTACTTTATTGTAGTTGCTGGG ATCTATCAAGTGCTTACTATGTGATGGATTCTATACTAAATGCTTTACAT ACAGAATCTCATTTAATCTTTCTGGTAACCTTGTACAAAACAAATCATCT TCCTC	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	5/21			chr9	TogoVar
PATJ_chr1_61737480_62168915	62137609	G G	GGACACAG others(374): Show GGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAG GGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTC CGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATG CCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGAGGGA AATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGAGGCCTGAGA GGGAAATGTTTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGAGGCCT GAGAGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAG GCCTGAGGGGGAAATGCCTCTGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0034 a0034	a0034c0109 a0034c0109	a0034c0109t0002 a0034c0109t0002	a0034c0109t0002g0125 a0034c0109t0002g0125	1	4	0.2500	381	c.527 others(400): Show c.5271+8664_5271+8665insGACACAGAGTGAGGGGGGACAGAGGC CTGAGGGGGAAATGCCTCCGGAGGGGGGGGACACAGAGTGAGGGGGGACA GAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGG GACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAG GGGGGACAGAGGCCTGAGAGGGAAATGTCTCTGGAGGGGGAAACACAGAG TGAAGGGGGACAGAGGCCTGAGAGGGAAATGTTTCTGGAGGGGGAAACAC AGAGTGAAGGGGGACAGAGGCCTGAGAGGGAAATGCCTCCGGAGGGGGGA ACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCTGGAGGG GGGGA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43			chr1	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(374): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	122	0.0082	381	c.70 others(392): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(374): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	122	0.0082	381	c.70 others(392): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(374): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0001 a0001c0001t0049g0001	1	122	0.0082	381	c.70 others(392): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PDE10A_chr6_165322289_165668241	165619419	G G	GTAGGCTA others(374): Show GTAGGCTAGTGTAGGCTAGTGTAGTGTAGTAGTGTAGTCTAGTGTAGTGT AGTCTAGTGTAGTCTAGTATAGTGTAGTATAGTCTAGTGTACTGTAGTGT AGTATAGTGTAGTCTAGTGTGGTGTGGTGTAGTGTAGTGTAGTCTAGTGT ACTGTAGTGTAGTGCAGTGTAGTGTAGTACAGTCTAGTGTAGTCTAGTAT AGTGTAGTCCAGTGTAGTGTAGTGTAGTCTAGTGTACTGTAGTGTAGTGT AGTGTAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTCTAGTGTAGTCT AGTGTACTGTAGTGTAGTGTAGTCTAGTGTACTGTAGTGTAGTGCAGTGG TCTAGTGCAGTGTAGTCTAGTGTAGTACAGTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG03041.hp2 others(2): Show HG01243.hp2 HG02109.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0027	a0001c0001t0003 a0001c0002t0005 a0001c0002t0027 others(2): Show a0001c0001t0003 a0001c0002t0005 a0001c0002t0027 a0001c0008t0005 a0002c0027t0037	a0001c0001t0003g0110 a0001c0002t0005g0073 a0001c0002t0027g0083 others(2): Show a0001c0001t0003g0110 a0001c0002t0005g0073 a0001c0002t0027g0083 a0001c0008t0005g0074 a0002c0027t0037g0222	5	173	0.0289	381	c.865 others(400): Show c.865+42527_865+42528insGACTGTACTACACTAGACTACACTGC ACTAGACCACTGCACTACACTACAGTACACTAGACTACACTACACTACAG TACACTAGACTACACTAGACTACACTACACTACACTACAGTACACTAGAC TACACTACACTACACTACAGTACACTAGACTACACTACACTACACTGGAC TACACTATACTAGACTACACTAGACTGTACTACACTACACTGCACTACAC TACAGTACACTAGACTACACTACACTACACCACACCACACTAGACTACAC TATACTACACTACAGTACACTAGACTATACTACACTATACTAGACTACAC TAGACTACACTACACTAGACTACACTACTACACTACACTAGCCTACACTA GCCTA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PIMREG_chr17_6439455_6456469	6455735	G G	GGAAGAGG others(374): Show GGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAG GGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGA GGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGAGGGAGCGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGA GGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGCAGGGAGGGCAGGGGGA AGAGGGGATGGGAGGGGAAGAGGGGAGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	308	0.0032	381	c.53 others(392): Show c.5388_*5389insGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGA GGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATG GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGAGGGAGCGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGCA GGGAGGGCAGGGGGAAGAGGGGATGGGAGGGGAAGAGGGGAGGGGGA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4267		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561371	T T	TCCTCCTC others(374): Show TCCTCCTCCTCCTCTTCCTCCTCCTTCTCCTCTTCCTCCTCCTAGTCCTC TCCTCCCTCCCCTCCTCCTCTTCCTCCTCCTCCTTCTCATTATCCTCCTT CTCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCCTTTTCTCCTCCTT CTTCTCCTTTTCCTCCTCCTTCTCTCCTTTTCCTCCTCCTTCTCTTCTTC CTCTTCTTCTTCCTCCTCCTCCCCTCCTTTTCCTCCTCCTCCTCTTTCTT CTCCTCTTCCTCCTCCTCCGCCCCCCTTCCTCCTTCTCCTCATCCTCCTT CCTCCTCTTCCTCCTTTTCCTCCTTCTCCTCCCCTCTTCCTCCTCTTCCT CCTCCTCCTCCCCTCCTCCTCCCCTCTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	216	0.0046	381	c.-49 others(392): Show c.-4966_-4965insGAGGAAGAGGGGAGGAGGAGGGGAGGAGGAGGAG GAAGAGGAGGAAGAGGGGAGGAGAAGGAGGAAAAGGAGGAAGAGGAGGAA GGAGGATGAGGAGAAGGAGGAAGGGGGGCGGAGGAGGAGGAAGAGGAGAA GAAAGAGGAGGAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGA AGAAGAGAAGGAGGAGGAAAAGGAGAGAAGGAGGAGGAAAAGGAGAAGAA GGAGGAGAAAAGGAGGAGAAGGAAGAGGAGGAGAAGGGAGAGAATGAGAA GGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAGGGGAGGGAGGAGA GGACTAGGAGGAGGAAGAGGAGAAGGAGGAGGAAGAGGAGGAGGAGG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4817		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561372	T T	TCCTCCTC others(374): Show TCCTCCTCCTCCTCTTCCTCCTCCTTCTCCTCTTCCTCCTCCTAGTCCTC CTCCTCCTCCCCTCCTCCTCTTCCTCCTCCTCCTTCTCATTATCCTCCTT CTCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCCTTTTCTCCTCCTT CTTCTCCTTTTCCTCCTCCTTCTCCTTTTCCTCCTCCTTCTCTTCTTCCT CTTCTTCTTCCTCCTCCTCCCCTCCTTTTCCTCCTCCTCCTCTTTCTTCT CCTCTTCCTCCTCCTCCGCCCCCCTTCCTCCTTCTCCTCATCCTCCTTCC CTCCTCTTCCTCCTTTTCCTCCTTCTCCTCCCCTCTTCCTCCTCTTCCTC CTCCTCCTCCCCTCCTCCTCCCCTCTTCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0183 a0001c0001t0008g0183	1	168	0.0060	381	c.-49 others(392): Show c.-4967_-4966insGGAGGAAGAGGGGAGGAGGAGGGGAGGAGGAGGA GGAAGAGGAGGAAGAGGGGAGGAGAAGGAGGAAAAGGAGGAAGAGGAGGG AAGGAGGATGAGGAGAAGGAGGAAGGGGGGCGGAGGAGGAGGAAGAGGAG AAGAAAGAGGAGGAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGAG GAAGAAGAGAAGGAGGAGGAAAAGGAGAAGGAGGAGGAAAAGGAGAAGAA GGAGGAGAAAAGGAGGAGAAGGAAGAGGAGGAGAAGGGAGAGAATGAGAA GGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAGGGGAGGAGGAGGA GGACTAGGAGGAGGAAGAGGAGAAGGAGGAGGAAGAGGAGGAGGAGG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4818		chr17	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(374): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAG GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	41	0.0244	381	c.575 others(402): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTC CTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTT CCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PLCL1_chr2_197799593_198154863	197922672	G G	GGACGGGG others(374): Show GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCA GGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGTGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCG GGCAGGGGGCTGACCCCCCCACCTCCCTCCCA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0146 a0001c0001t0035g0146	1	94	0.0106	381	c.240 others(402): Show c.240+117348_240+117349insCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCAGC TGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCAGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CAGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGC	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLEKHN1_chr1_961482_980865	977032	A A	ACCAACCC others(374): Show ACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCCAACCCCGGGAACCGC CTCCCGCTCCCCCCGCCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCCA ACCCCGGGAACCGCCTCCCGCTCCCCCCGCCAACCCCGGGAACCGCCTCC CGCTCCCCCCGCCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCCAACCC CGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTC CCCCCGCCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCCAACCCCGGGA ACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCC GCAACCCCGGGAACCGCCTCCCGCTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0009 a0001c0009t0009	a0001c0009t0009g0016 a0001c0009t0009g0016	1	410	0.0024	381	c.24 others(392): Show c.2457_*2458insCCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCC AACCCCGGGAACCGCCTCCCGCTCCCCCCGCCAACCCCGGGAACCGCCTC CCGCTCCCCCCGCCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCCAACC CCGGGAACCGCCTCCCGCTCCCCCCGCCAACCCCGGGAACCGCCTCCCGC TCCCCCCGCCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGG AACCGCCTCCCGCTCCCCCCGCCAACCCCGGGAACCGCCTCCCGCTCCCC CCGCCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCG CCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1168		chr1	TogoVar
PRDM16_chr1_3064203_3443621	3287267	G G	GTGCCCCG others(374): Show GTGCCCCGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCG CCCCGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCC CCTGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCCC GCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCCCGCC ACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCTGCCCCTGCCAC GCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCCCCTGCCACG CGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCCCGCCACGCGG GCATCCAGGATTGCATTTACCGGGGCTGGAGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	138	0.0072	381	c.438 others(400): Show c.438+43130_438+43131insTGCCCCGCCACGCGGGCATCCAGGAT TGCATTTACCGGGGCTGGAGCCGCCCCGCCACGCGGGCATCCAGGATTGC ATTTACCGGGGCTGGAGCCGCCCCCTGCCACGCGGGCATCCAGGATTGCA TTTACCGGGGCTGGAGCCGCCCCGCCACGCGGGCATCCAGGATTGCATTT ACCGGGGCTGGAGCCGCCCCGCCACGCGGGCATCCAGGATTGCATTTACC GGGGCTGGAGCTGCCCCTGCCACGCGGGCATCCAGGATTGCATTTACCGG GGCTGGAGCCGCCCCCTGCCACGCGGGCATCCAGGATTGCATTTACCGGG GCTGGAGCCGCCCCGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCT GGAGC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16			chr1	TogoVar
PRDM16_chr1_3064203_3443621	3287392	T T	TTTACCGG others(374): Show TTTACCGGGGCTGGAGCCGCCCCTGCCACGCGGGCATCCAGGATTGCACT TACCGGGGCTGGAGCCGCCCCGCCACGCGGGCATCCAGGATTGCATTTAC CGGGGCTGGAGCCGCCCCCTGCCACGCGGGCATCCAGGATTGCATTTACC GGGGCTGGAACCGCCCCGCCACGCGGACATCCAGGATTGCATTTACCGGG GCTGGAGCTGCCCCTGCCATGCGGGCATCGAGGATTGCATTTACCGGGGC TGGAGCCGCCCCGCCACGCGGGCATCCAGGATTGCACTTACCGGGGCTGG AGCCGCCCCGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGC CGCCCCTGCCACGCGGGCATCCAGGATTGCAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0102 a0002c0003t0002g0102	1	197	0.0051	381	c.438 others(400): Show c.438+43277_438+43278insTGCCACGCGGGCATCCAGGATTGCAC TTACCGGGGCTGGAGCCGCCCCGCCACGCGGGCATCCAGGATTGCATTTA CCGGGGCTGGAGCCGCCCCCTGCCACGCGGGCATCCAGGATTGCATTTAC CGGGGCTGGAACCGCCCCGCCACGCGGACATCCAGGATTGCATTTACCGG GGCTGGAGCTGCCCCTGCCATGCGGGCATCGAGGATTGCATTTACCGGGG CTGGAGCCGCCCCGCCACGCGGGCATCCAGGATTGCACTTACCGGGGCTG GAGCCGCCCCGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAG CCGCCCCTGCCACGCGGGCATCCAGGATTGCACTTACCGGGGCTGGAGCC GCCCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123463	G G	GGTAGTTA others(374): Show GGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCA TGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGG GTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCATGGTGGTAGTTAGGATCATGGCTGTA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0180 a0002c0005t0016g0180	1	172	0.0058	381	c.335 others(400): Show c.335-11797_335-11796insAGTTAGGGTCACGGCTATAGTTGGGG TCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGT AGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGGGTCACGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAG GGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAG TTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCT GTAGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAC2_chr22_37220270_37249269	37227454	G G	GCCCTCCT others(374): Show GCCCTCCTGTGCCATACACCCCTCCCATGCCATACATCCCTCCCACGCCT CCCATGCCATACACCCCTCCCACGCCATACACCCCCTCCCACGCCATACA TCCCTCCCACACCTCCCATGCCATACACCCCTCCCACGCCATACACCCCC TCCCACGCCATACACCCCTTCCCATGCCTCCCACGCCATATACCCCTCCC ACGCCTCCCACACCATACACCCCTCCCACGCCATACACCCTCCCACGCCA TACACCCCTCCCACGCCATACACCCCTCCCAAGCCATACACCCCTCCCAT GCCTCCCACGCCATACAAGCCCTCCTGTGCCATACACCCCTCCCATGCCA TACATCCCTCCCACGCCTCCCATGCCATACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02559.hp1 HG01891.hp2 HG02055.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	3	11	0.2727	381	c.449 others(396): Show c.449-652_449-651insGTGTATGGCATGGGAGGCGTGGGAGGGATG TATGGCATGGGAGGGGTGTATGGCACAGGAGGGCTTGTATGGCGTGGGAG GCATGGGAGGGGTGTATGGCTTGGGAGGGGTGTATGGCGTGGGAGGGGTG TATGGCGTGGGAGGGTGTATGGCGTGGGAGGGGTGTATGGTGTGGGAGGC GTGGGAGGGGTATATGGCGTGGGAGGCATGGGAAGGGGTGTATGGCGTGG GAGGGGGTGTATGGCGTGGGAGGGGTGTATGGCATGGGAGGTGTGGGAGG GATGTATGGCGTGGGAGGGGGTGTATGGCGTGGGAGGGGTGTATGGCATG GGAGGCGTGGGAGGGATGTATGGCATGGGAGGGGTGTATGGCACAGGAGG G	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RASA3_chr13_113972783_114137623	114119697	C C	CCTCTCTC others(374): Show CCTCTCTCCAGCCAGACGTCGGTCAGGGCCCCTCCCTCTCTCCAGCCAGG CGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAGGGCCCC CCCCTTCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCC AGGCGTCGATCAGGGCCCCCCTCCCCTCTCCAGCCAGGCGTCGATCAGTG CCCCCCTCCCCTCTCCAGCCAGGCGTCGATCAGTGCCCCCCTCCCCTCTC CAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCGTCGATC AGGGCCCCCCCCTCCTCTCTCCAGCCAGGCGTCGATCAAGTCCCCCCCTT CTCTCCAGCCAGACGTCGATCAGGGCCCCCCT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0021 a0001c0003t0003g0021	1	61	0.0164	381	c.55+ others(398): Show c.55+12737_55+12738insAGGGGGGCCCTGATCGACGTCTGGCTGG AGAGAAGGGGGGGACTTGATCGACGCCTGGCTGGAGAGAGGAGGGGGGGG CCCTGATCGACGCCTGGCTGGAGAGAGGGAGGGGCCCTGATCGACGCCTG GCTGGAGAGGGGAGGGGGGCACTGATCGACGCCTGGCTGGAGAGGGGAGG GGGGCACTGATCGACGCCTGGCTGGAGAGGGGAGGGGGGCCCTGATCGAC GCCTGGCTGGAGAGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAGAA GGGGGGGGCCCTGATCGACGCCTGGCTGGAGAGAGGGAGGGGCCCTGATC GACGCCTGGCTGGAGAGAGGGAGGGGCCCTGACCGACGTCTGGCTGGAGA GAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RFC1_chr4_39282456_39371362	39348443	A A	AAAGGGAA others(374): Show AAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAA AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGG AAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAA AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGG AAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAA AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0074 a0001c0003t0001g0074	1	250	0.0040	381	c.132 others(398): Show c.132+2904_132+2905insCTTTCCCTTTCCCTTTCCCTTTCCCTTT CCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCC CTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCT TTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTT CCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCC CTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCT TTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTT CCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCC CTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTA others(374): Show TATTATTAAATATATATATATTTAAAAATATATATATTAAAAATATATAT ATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTAA ATATATATTAATATACATATTTTAATATATATAATTTAATATATATCTTT AAATATTTAAAGATATATATTAAATTATATATATTAAAATATGTATATTA ATATATATTTAAATTATATAATTTAAATATACATATTTAAAAATATATAT ATTTAAATATATATATTTTTAATATATATATTTTTAAATATATATATATT TATATATATATTTTTATATATATATTTATATATATATTTTTATATATATA TATTTATATATATATTTTTAAATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	364	0.0027	381	c.182 others(398): Show c.182-2723_182-2722insATTATTAAATATATATATATTTAAAAAT ATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGTA TATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATATA TATAATTTAATATATATCTTTAAATATTTAAAGATATATATTAAATTATA TATATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAATA TACATATTTAAAAATATATATATTTAAATATATATATTTTTAATATATAT ATTTTTAAATATATATATATTTATATATATATTTTTATATATATATTTAT ATATATATTTTTATATATATATATTTATATATATATTTTTAAATATATAT ATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1289848	T T	TCTCTGCC others(374): Show TCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCC CGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0072 a0007c0006t0001g0072	1	239	0.0042	381	c.166 others(398): Show c.1663-422_1663-421insTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCC CCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTG CCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339807	C C	CACGCTCC others(374): Show CACGCTCCTCATTCTATCCCCCCACAAGCATCGCTCCAACCCTCCCCTAC TCTCCTCACTCTATCCCCCCACAAGCATCACTCCAACCCTCCCCCCACTC TCCTCATTCTATCCCCCCACAAGCATCACTCCAACCCTCCCCCCACTCTC CTCATTCTATCCCCCCACAAGCATCACTCCAACCCTCCCCTACTCTCCTC ATTCTACCCCCCCCAAGCATAGCTCCAACCCTCCCCCAACTCTCCTCATT CTACGCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTC TACCCCCCCCACAAGCACTGCTCCAACCCTCCCCCACTCTCCTCATTCTA TCCCCCCACAAGCATTGCTCCAACCCTCCCCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02027.hp1 HG02027.hp2 others(19): Show HG00544.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG04184.hp1 HG04199.hp2 NA18747.hp1 NA18944.hp2 NA18962.hp1 NA18971.hp1 NA18983.hp2 NA18995.hp2 NA19005.hp2 NA19007.hp2 NA19066.hp1 NA19080.hp2 NA19083.hp2 NA19087.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0010	a0001c0004 a0001c0013 a0002c0002 others(4): Show a0001c0004 a0001c0013 a0002c0002 a0003c0001 a0003c0007 a0008c0017 a0010c0029	a0001c0004t0005 a0001c0004t0037 a0001c0013t0005 others(7): Show a0001c0004t0005 a0001c0004t0037 a0001c0013t0005 a0002c0002t0002 a0002c0002t0013 a0003c0001t0001 a0003c0001t0022 a0003c0007t0001 a0008c0017t0053 a0010c0029t0007	a0001c0004t0005g0123 a0001c0004t0037g0106 a0001c0013t0005g0117 others(19): Show a0001c0004t0005g0123 a0001c0004t0037g0106 a0001c0013t0005g0117 a0002c0002t0002g0095 a0002c0002t0002g0100 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0107 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0013g0104 a0003c0001t0001g0101 a0003c0001t0001g0108 a0003c0001t0001g0109 a0003c0001t0001g0111 a0003c0001t0001g0116 a0003c0001t0001g0124 a0003c0001t0022g0110 a0003c0007t0001g0099 a0003c0007t0001g0102 a0008c0017t0053g0121 a0010c0029t0007g0094	22	178	0.1236	381	c.89- others(394): Show c.89-573_89-572insAGGGGAGGGTTGGAGCAATGCTTGTGGGGGGA TAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGGGTA GAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGCGTAG AATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAAT GAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAG GAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGGA GAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGA GTAGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGT	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SEC24B_chr4_109428815_109545896	109488301	C C	CAGGTGTC others(374): Show CAGGTGTCTAGGCAGGTAGAACAATTTTGCAATATATTTTTCCTCTTAAT AAAGAATGGAAAGTAATGCCCTTTCCTTTGTGTTCCTTTTATTTGTGAAT TTTAAACTAAAGCAGAATGCTGATATATCAGGTCAAAAGTCTCCAAATAT TCATCAACAGATGAATGGATAAACAAAATATGGTATATCTATAAAATGGG ATATTATTTAGCCATAAAAATGAAGTATGGATACACGCTACAATGTGAAT GAAACCTGAAAATTTGCTTAAGTGAAATAAATCAAACAAAAAAGACCATA TATATTATCATATGTATATATCACATGTATATATCATATATATACCATAT ATATCATATATATACCTGTCTATATATCATAT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	220	0.0045	381	c.116 others(400): Show c.1166-3024_1166-3023insGTGTCTAGGCAGGTAGAACAATTTTG CAATATATTTTTCCTCTTAATAAAGAATGGAAAGTAATGCCCTTTCCTTT GTGTTCCTTTTATTTGTGAATTTTAAACTAAAGCAGAATGCTGATATATC AGGTCAAAAGTCTCCAAATATTCATCAACAGATGAATGGATAAACAAAAT ATGGTATATCTATAAAATGGGATATTATTTAGCCATAAAAATGAAGTATG GATACACGCTACAATGTGAATGAAACCTGAAAATTTGCTTAAGTGAAATA AATCAAACAAAAAAGACCATATATATTATCATATGTATATATCACATGTA TATATCATATATATACCATATATATCATATATATACCTGTCTATATATCA TATAG	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1070185	C C	CCCCCAGC others(374): Show CCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTG AGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAG CACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCA TCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGTATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGCACACGGGTATCACACTTATGCAGCC CCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAG CCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGTG AGCCCCCAGCACACGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0038 a0002c0038	a0002c0038t0014 a0002c0038t0014	a0002c0038t0014g0118 a0002c0038t0014g0118	1	109	0.0092	381	c.224 others(400): Show c.2241+3447_2241+3448insCTGCATAAGTGTGATGCCGTGTGCTG GGGGCTCACTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGC TGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTC ACTGGGGGCTGCATAAGTGTGATACCCGTGTGCTGGGGGCTCACTGGGGG CTGCATAAGTGTGATACCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAA GTGTGATGCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGC CGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTG GGGGCTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGC TGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(374): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGCGGCAGGGGGGAGGCGGG GGGGCGGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGG GCGGGAGGGGGAGGAGTCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGG GAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGGC GGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGA GGGGGGAGGCGGGGGGGCGGGAGGGGGAGGGGGCGGGAGGGGAAGGAGGC GGGGGGGGCGGGGGGGAGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGG GAGGACGCGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0125 a0001c0001t0010g0125	1	25	0.0400	381	c.914 others(400): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCGCCTCCTTCCCCTCCCGCCCCCTCCCCCTCCCGCCCCCCCGCCT CCCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCC CCTCCCGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCCTCCCCCTCCGGC CCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGACTCCTCCCCC TCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCTCC CGCCCCCCCGCCTCCCCCCTGCCGCCCCCCGCCTCCTCCCCCTCCCGCCC CCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC24A3_chr20_19207642_19727926	19663413	C C	CTCCTCCT others(374): Show CTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCTACCTCCT GCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCACCTCCTCCTCCTGCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTC CTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCT CCTCCACCTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0097 a0002c0002t0003g0097	1	89	0.0112	381	c.688 others(398): Show c.688-2442_688-2441insACCTCCTCCTCCTCCTCCTCCACCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCACCT CCTCCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCA CCTCCACCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACTTCCTCC TCC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19663437	C C	CTCCTCCA others(374): Show CTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCC TCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCT CCTCCACCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCAC CTCCTCCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCT CCTCCACCTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01070.hp2 HG01071.hp1 others(5): Show HG00099.hp1 HG01070.hp2 HG01071.hp1 HG02451.hp1 HG02683.hp1 HG03704.hp2 NA18522.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0005 others(1): Show a0001c0001 a0001c0004 a0002c0005 a0003c0011	a0001c0001t0004 a0001c0004t0004 a0002c0005t0004 others(1): Show a0001c0001t0004 a0001c0004t0004 a0002c0005t0004 a0003c0011t0004	a0001c0001t0004g0101 a0001c0001t0004g0104 a0001c0004t0004g0158 others(5): Show a0001c0001t0004g0101 a0001c0001t0004g0104 a0001c0004t0004g0158 a0001c0004t0004g0159 a0002c0005t0004g0041 a0002c0005t0004g0069 a0002c0005t0004g0110 a0003c0011t0004g0040	8	96	0.0833	381	c.688 others(398): Show c.688-2426_688-2425insCCTCCACTTCCTCCTCCACCTCCTCCTC TACCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCT CCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC TCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCCTCCACCTC CTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCA CTT	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC2A9_chr4_9821224_10026497	9981278	G G	GGTAGTAA others(374): Show GGTAGTAATGATGGTCATGATGGTGATGATGGTGATGATGGTGATCGTGG TGATGGTAATGTTGATGGCGGTAGCAATAGTGATGATGATGGTGATGGTG ATGATGATGGTAGTGATGGTGGTGGTGGTGGTGCTGGTGATGGTAATGAT GGTGATGGTGGTGGTGCTGATGGTGATAATGGTTGTAGCAATGATGATGG TGATTGTGGTGGTAGTAGTAATGGTGATGATAGTGATGGTGATGGTGGTG GTGCTGATGGTGATGATGGTTGTAGCAATGATGATGGTGATTGTGGTGGT AGTAGTAATGGTGATGATGGTGATGGTGGTGGTGCTGATGGTGATGATGG TTGTAGCAATGATGATGGTGATTGTGGTGGTA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0007 a0003c0002t0001g0007	1	2	0.5000	381	c.536 others(396): Show c.536-542_536-541insTACCACCACAATCACCATCATCATTGCTAC AACCATCATCACCATCAGCACCACCACCATCACCATCATCACCATTACTA CTACCACCACAATCACCATCATCATTGCTACAACCATCATCACCATCAGC ACCACCACCATCACCATCACTATCATCACCATTACTACTACCACCACAAT CACCATCATCATTGCTACAACCATTATCACCATCAGCACCACCACCATCA CCATCATTACCATCACCAGCACCACCACCACCACCATCACTACCATCATC ATCACCATCACCATCATCATCACTATTGCTACCGCCATCAACATTACCAT CACCACGATCACCATCATCACCATCATCACCATCATGACCATCATTACTA C	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	4/11			chr4	TogoVar
SLCO3A1_chr15_91848708_92170903	92143358	C C	CATATATA others(374): Show CATATATATATTATATAATATATATATAAAATATATATATATTATATAAT ATATATATAAAATATATATATATTATATATAAAATATATATATTATATAA TATATATATAAAATATATATATTATATAATATATATATAAAATATATATA TTATATAATATATATATAAAATATATATATTATATAATATATGTAATATT ATATATAATATATATATTATATATATTATATATTATATATATTATATATA TTATATATAATATATATTATATATTATATATATTATATATATTATATATA ATATATTATATATAATATATATAATATATTATATATAATATATATAATAT ATTATATATAATATATATAATATATATAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0119 a0001c0001t0005g0119	1	25	0.0400	381	c.151 others(400): Show c.1513-3601_1513-3600insTAAAATATATATATATTATATAATAT ATATATAAAATATATATATATTATATATAAAATATATATATTATATAATA TATATATAAAATATATATATTATATAATATATATATAAAATATATATATT ATATAATATATATATAAAATATATATATTATATAATATATGTAATATTAT ATATAATATATATATTATATATATTATATATTATATATATTATATATATT ATATATAATATATATTATATATTATATATATTATATATATTATATATAAT ATATTATATATAATATATATAATATATTATATATAATATATATAATATAT TATATATAATATATATAATATATATAAAAAATATATATATTATATAATAT ATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SNTG2_chr2_945849_1372613	1221691	C C	CTGTCTCT others(374): Show CTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCT GTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCT CTGCCCCTCCCTCTGTCTCTCTGTGTCCCTCTCAGTCTCTGGTTTTGTCT CTGTCTCTCTCTGTCTCTGCATCTGCCTCTCTCTGTCTCTGTCTCTGCTT CTCTCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCT AGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCT GTCACTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCCCCT CCCTCTGTCTCTCTCTGTCCCTTTCAGTCTCT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0011 a0003c0008t0001g0011	1	184	0.0054	381	c.719 others(400): Show c.719+12461_719+12462insTGTCTCTAGCTCTGCCTCTGTTAGTC CCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTG TCTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTGTGTC CCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCATCTGCC TCTCTCTGTCTCTGTCTCTGCTTCTCTCTGTCTCTCTCTTTGTCCCTCTC TGTCTCTGTCTCTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTG TCTCTCCCTGTCTCTGTCTCTCTGTCACTGTCTCTGCCTCTGTCTCTGCC TCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTTTCAG TCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(374): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGG GAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAA CGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGG GGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGA GGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGA GGGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	12	0.0833	381	c.34 others(390): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCCCTCCC CTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCC CCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCCTCCCCCT CCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCC CTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCC CGCTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCC TCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCC TCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(374): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGAGGGAGGGGAGGG GGAGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAG GGAGGGGAGGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAG GGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGG GAGGGGAGGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGA GGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0221	1	6	0.1667	381	c.138 others(400): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCCT CCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCTCCCCTC CCCTCCCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCC TCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(374): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGG GGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGG AGGGGAGGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGA GGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0023 a0023	a0023c0019 a0023c0019	a0023c0019t0001 a0023c0019t0001	a0023c0019t0001g0204 a0023c0019t0001g0204	1	6	0.1667	381	c.138 others(400): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCC TCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCC CTCCCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCC TCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRXN1_chr20_641615_658200	642300	G G	GGCCCAGC others(374): Show GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCC TGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	6	0.1667	381	c.64 others(392): Show c.6413_*6414insGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGG CAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTG GGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4314		chr20	TogoVar
SSTR5_chr16_1067747_1086454	1076106	C C	CTCCCTCC others(374): Show CTCCCTCCCTCTCTCCCTCTCTCCTCCCCGCCTCCCCCTCCCTCTCCCCC ATACCCTATCTTTCTCTCTCCCTCCCCGCCTCCCCCTCCCTCTCCCCCCA CCTTTTCTCTCTCCCTCCCCACCTCCCCCTCCCTCTCCCTCCCCCCTCAC CTCCCCTCCCTTTCCCTCCCTCTCTCCCTCTCTCCTCCCCTCCCCCTCCC TTTCCCTCCCTCTCTCCCTCTCTCCTCCCCGCCTCCCCATCCCTCTCCCT CTCCCTCCTCTCTCTCTCCCCTACCCTGTCTTTCTCTCTGCCTCCCCGCC TCCCCTTCCCTCTCCCCCCACCTTTTCTCTCTCCCTCCCCACCTCCCCCT CCCTCTCCCTCCCCCCTCACCTCCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	283	0.0035	381	c.-27 others(398): Show c.-27-2700_-27-2699insCTCCCTCTCCCCCATACCCTATCTTTCT CTCTCCCTCCCCGCCTCCCCCTCCCTCTCCCCCCACCTTTTCTCTCTCCC TCCCCACCTCCCCCTCCCTCTCCCTCCCCCCTCACCTCCCCTCCCTTTCC CTCCCTCTCTCCCTCTCTCCTCCCCTCCCCCTCCCTTTCCCTCCCTCTCT CCCTCTCTCCTCCCCGCCTCCCCATCCCTCTCCCTCTCCCTCCTCTCTCT CTCCCCTACCCTGTCTTTCTCTCTGCCTCCCCGCCTCCCCTTCCCTCTCC CCCCACCTTTTCTCTCTCCCTCCCCACCTCCCCCTCCCTCTCCCTCCCCC CTCACCTCCCCTCCCTTTCCCTCCCTCTCTCCCTCTCTCCTCCCCGCCTC CCC	SSTR5	ENSG00000162009.10	transcript	ENST00000689027.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016099	G G	GCTCCTGT others(374): Show GCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCC TCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTC CTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCTCTCCTCCTCCTGTAT CTCCTCCCTCCCCTCCTGTATCTTCCCCTCCTCCTCCTCCTGTATCTCCT CCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCC CCCTCCTCCTCCTGTATCTCCTCCCCCTCCTC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	198	0.0051	381	c.262 others(400): Show c.262-28088_262-28087insCCTCCTCCTCCTGTATCTCCTCCCCC TCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTC CTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCT CCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCC TCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCTCTCCTCCTC CTGTATCTCCTCCCTCCCCTCCTGTATCTTCCCCTCCTCCTCCTCCTGTA TCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATC TCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTC CTCCC	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STK38L_chr12_27239286_27330959	27240876	T T	TTGTATAG others(374): Show TTGTATAGTTATATATATTACATATATCACTATGTATAGTTGTATAGTTA TATATATTACATATATGACTATGTATAGTTGTATAGTTATATATATTACA TATATGACTATGTATAGTTGTATAGTTATATATATTACATATATCACTAT GTATAGTTGTATAGTTATATATATTACATATATCACTATGTATAGTTGTA TAGTTATATATATTACATATATCACTATGTATAGTTATATATATTACATA TATGACTATGTATAGTTATATATATTACATATATGACTATGTATAGTTAT ATATATTACATATATGACTATGTATAGTTATATATATTACATATATGACT ATGTATAGTTATATATATTACATATATGACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02055.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0007	2	364	0.0055	381	c.-34 others(392): Show c.-3468_-3467insTGTATAGTTATATATATTACATATATCACTATGT ATAGTTGTATAGTTATATATATTACATATATGACTATGTATAGTTGTATA GTTATATATATTACATATATGACTATGTATAGTTGTATAGTTATATATAT TACATATATCACTATGTATAGTTGTATAGTTATATATATTACATATATCA CTATGTATAGTTGTATAGTTATATATATTACATATATCACTATGTATAGT TATATATATTACATATATGACTATGTATAGTTATATATATTACATATATG ACTATGTATAGTTATATATATTACATATATGACTATGTATAGTTATATAT ATTACATATATGACTATGTATAGTTATATATATTACATATATGACTA	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3409		chr12	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(374): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0257 a0001c0001t0006g0257	1	9	0.1111	381	c.75 others(392): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(374): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCTCCCCT CCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCC CTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCC CCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCGTCC CCTCCTCTCCCCTCCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	165	0.0061	381	c.186 others(398): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTC CTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCC CTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCC TCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(374): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCTCCCCT CCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCC CTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCC CCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCGTCC CCTCCTCTCCCCTCCCCCCTCCCCCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	165	0.0061	381	c.186 others(398): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTC CTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCC CTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCTC TCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(374): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCC CTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCC CGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG00639.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0216 a0001c0001t0002g0090 a0001c0001t0002g0216	2	166	0.0120	381	c.186 others(398): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCT CTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCC TCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF3_chr19_1604292_1657615	1628288	C C	CAGGGGAT others(374): Show CAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAG AGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATG AGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGG ATGAGGCGGGAAGGGGACAGCAGAGCTCACAG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0333 a0001c0003t0005g0333	1	261	0.0038	381	c.299 others(396): Show c.299-863_299-862insCTGTGAGCTCTGCTGTCCCCTTCCCGCCTC ATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAG CTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTT CCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCT TCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCC T	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1272751	A A	ACACATCA others(374): Show ACACATCAGACCCCACGACTGCCATCCACAGTCACATCAGACCCCACGAC CGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCAC CACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCC CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATC AGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCC ATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACA CATCAGACCCCACAACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	374	0.0027	381	c.228 others(398): Show c.2287-472_2287-471insGTGACTGTGGATGGCGGTTGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGACTGTGGATGGCAGTCGTGGGGTCTGAT GTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273190	A A	ACATCAGA others(374): Show ACATCAGACCCCACAACCACCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACATCAGACCCCACGACCACCATCCACAGTCACATCAGAC CCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCAT CCACAGTCACCACACATCAGACCCTACGACCGCCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	365	0.0027	381	c.228 others(398): Show c.2287-911_2287-910insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGTGAC TGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGGTTGTGGGGTCTG ATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273262	A A	ACATCAGA others(374): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCACCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAG ACCCTACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	365	0.0027	381	c.228 others(398): Show c.2287-983_2287-982insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTA GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGTGGTC GTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGT GGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273309	C C	CACGACCG others(374): Show CACGACCGCCATCCACAGTCACCACACATCAGACCCCCGGGACCAACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACC GCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCACG ACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCACC ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCACCATCCACAGTCACCACACATCAGACCCT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	339	0.0029	381	c.228 others(400): Show c.2287-1030_2287-1029insAGGGTCTGATGTGTGGTGACTGTGGA TGGTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTG TGGATGGCGGTTGGTCCCGGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar

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