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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GCK_chr7_44139275_44194439	44174854	CTCTTCTT others(14): Show CTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03688.hp2 HG01109.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0209 a0001c0001t0005g0146 a0001c0001t0001g0209 a0001c0001t0005g0146	2	162	0.0123	-21	c.45+ others(38): Show c.45+14034_45+14054delAGAAGAAGAAGAAGAAGAAGA		GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9						chr7	TogoVar
GCM1_chr6_53121961_53153841	53142000	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0112 a0001c0005t0001g0112	1	28	0.0357	-21	c.75+ others(36): Show c.75+3537_75+3557delTTTTTTTTTTTTTTTTTTTTT		GCM1	ENSG00000137270.11	transcript	ENST00000259803.8	protein_coding	2/5						chr6	TogoVar
GDPD2_chrX_70418314_70438381	70438096	ATGCACTC others(14): Show ATGCACTCCTTACCAGGACCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00609.hp1 others(34): Show HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG02080.hp1 HG02165.hp2 HG02273.hp2 HG02698.hp1 HG02735.hp1 HG03098.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA18612.hp1 NA18945.hp1 NA18948.hp1 NA18953.hp1 NA18960.hp1 NA18971.hp1 NA18978.hp1 NA18979.hp2 NA18997.hp1 NA19005.hp1 NA19007.hp1 NA19030.hp1 NA19062.hp1 NA19076.hp1 NA19081.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0025 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0002t0001g0004 a0001c0003t0001g0029 a0001c0006t0001g0021	37	316	0.1171	-21	c.50 others(32): Show c.5011_*5031delTGCACTCCTTACCAGGACCTT		GDPD2	ENSG00000130055.14	transcript	ENST00000374382.4	protein_coding					4716		chrX	TogoVar
GDPD5_chr11_75429640_75530941	75433605	CATGTGGG others(14): Show CATGTGGGGCGGGGGGCACAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0191 a0001c0001t0012g0191	1	320	0.0031	-21	c.18 others(32): Show c.1881_*1901delACTGTGCCCCCCGCCCCACAT		GDPD5	ENSG00000158555.15	transcript	ENST00000336898.8	protein_coding					1034		chr11	TogoVar
GDPGP1_chr15_90229209_90250811	90246787	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02451.hp2 HG02717.hp2 others(9): Show HG01978.hp2 HG02451.hp2 HG02717.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03453.hp1 HG03579.hp1 NA18522.hp2 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0054 a0005c0005t0016 others(3): Show a0001c0001t0001 a0001c0001t0054 a0005c0005t0016 a0005c0005t0053 a0005c0005t0129 a0005c0005t0130	a0001c0001t0001g0037 a0001c0001t0054g0046 a0005c0005t0016g0018 others(7): Show a0001c0001t0001g0037 a0001c0001t0054g0046 a0005c0005t0016g0018 a0005c0005t0016g0048 a0005c0005t0016g0099 a0005c0005t0016g0100 a0005c0005t0053g0018 a0005c0005t0053g0048 a0005c0005t0129g0018 a0005c0005t0130g0018	12	50	0.2400	-21	c.47 others(32): Show c.4722_*4742delAAAAAAAAAAAAAAAAAAAAA		GDPGP1	ENSG00000183208.13	transcript	ENST00000329600.8	protein_coding					977		chr15	TogoVar
GFER_chr16_1979193_1992749	1984463	GGACGCAG others(14): Show GGACGCAGCAGAAGGTGCAGTT	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19072.hp1 NA19072.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0014 a0004c0005t0001g0014	1	424	0.0024	-21	c.246 others(30): Show c.246_258+8delGACGCAGCAGAAGGTGCAGTT	p.Thr others(4): Show p.Thr83fs	GFER	ENSG00000127554.13	transcript	ENST00000248114.7	protein_coding	1/3	272/2365	246/618	82/205			chr16	TogoVar
GFOD1_chr6_13352830_13492600	13475719	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0173 a0001c0001t0117g0173	1	10	0.1000	-21	c.253 others(40): Show c.253+10898_253+10918delATTATTATTATTATTATTATT		GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1						chr6	TogoVar
GFPT2_chr5_180295698_180358336	180353280	CCTCCGTG others(14): Show CCTCCGTGGGCTCCTCCGTGGG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02965.hp2 HG02970.hp1 others(1): Show HG02486.hp2 HG02965.hp2 HG02970.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0020 a0001c0005t0010 a0001c0005t0019 a0001c0004t0020 a0001c0005t0010 a0001c0005t0019	a0001c0004t0020g0359 a0001c0005t0010g0360 a0001c0005t0010g0362 others(1): Show a0001c0004t0020g0359 a0001c0005t0010g0360 a0001c0005t0010g0362 a0001c0005t0019g0361	4	410	0.0098	-21	c.-84 others(28): Show c.-84_-64delCCCACGGAGGAGCCCACGGAG		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding	1/19				64		chr5	TogoVar
GFRA1_chr10_116051925_116278206	116064037	AATCATCA others(14): Show AATCATCATCATGATCATGATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(53): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00673.hp1 HG01243.hp1 HG01346.hp1 HG01361.hp2 HG01884.hp1 HG01934.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02257.hp1 HG02293.hp1 HG02451.hp2 HG02622.hp2 HG02630.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03492.hp2 HG04115.hp2 NA18522.hp1 NA18941.hp1 NA18950.hp1 NA18952.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18968.hp1 NA18969.hp1 NA18975.hp1 NA18984.hp1 NA18989.hp2 NA18993.hp1 NA19000.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19077.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010 a0001c0013 a0002c0003 a0002c0004	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(43): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0025 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0001c0001t0074 a0001c0001t0077 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0125 a0001c0001t0127 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0014 a0001c0002t0016 a0001c0002t0026 a0001c0002t0027 a0001c0002t0048 a0001c0002t0075 a0001c0002t0100 a0001c0002t0101 a0001c0005t0046 a0001c0005t0068 a0001c0010t0107 a0001c0013t0005 a0002c0003t0005 a0002c0003t0008 a0002c0003t0011 a0002c0003t0076 a0002c0003t0106 a0002c0003t0108 a0002c0004t0025 a0002c0004t0050 a0002c0004t0109	a0001c0001t0005g0088 a0001c0001t0007g0008 a0001c0001t0007g0021 others(53): Show a0001c0001t0005g0088 a0001c0001t0007g0008 a0001c0001t0007g0021 a0001c0001t0007g0025 a0001c0001t0008g0020 a0001c0001t0008g0031 a0001c0001t0008g0035 a0001c0001t0010g0179 a0001c0001t0010g0185 a0001c0001t0011g0152 a0001c0001t0013g0143 a0001c0001t0013g0194 a0001c0001t0014g0147 a0001c0001t0015g0181 a0001c0001t0015g0184 a0001c0001t0016g0153 a0001c0001t0025g0119 a0001c0001t0045g0148 a0001c0001t0047g0195 a0001c0001t0049g0203 a0001c0001t0074g0165 a0001c0001t0077g0002 a0001c0001t0102g0104 a0001c0001t0103g0113 a0001c0001t0104g0042 a0001c0001t0105g0109 a0001c0001t0125g0105 a0001c0001t0127g0132 a0001c0002t0005g0057 a0001c0002t0005g0106 a0001c0002t0007g0022 a0001c0002t0010g0180 a0001c0002t0011g0199 a0001c0002t0014g0196 a0001c0002t0016g0150 a0001c0002t0026g0058 a0001c0002t0026g0110 a0001c0002t0027g0052 a0001c0002t0027g0116 a0001c0002t0048g0144 a0001c0002t0075g0038 a0001c0002t0100g0066 a0001c0002t0101g0054 a0001c0005t0046g0176 a0001c0005t0068g0175 a0001c0010t0107g0068 a0001c0013t0005g0062 a0002c0003t0005g0098 a0002c0003t0008g0024 a0002c0003t0011g0178 a0002c0003t0076g0018 a0002c0003t0106g0072 a0002c0003t0108g0069 a0002c0004t0025g0124 a0002c0004t0050g0210 a0002c0004t0109g0117	56	121	0.4628	-21	c.34 others(30): Show c.340_*360delCATCATGATCATGATGATGAT		GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	11/11				340		chr10	TogoVar
GFRA1_chr10_116051925_116278206	116064868	CACGTTGC others(14): Show CACGTTGCACAGGTAACTGACA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02109.hp2 HG02647.hp2 others(1): Show HG00738.hp2 HG02109.hp2 HG02647.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0053 a0001c0001t0078 a0001c0005t0052 others(1): Show a0001c0001t0053 a0001c0001t0078 a0001c0005t0052 a0002c0003t0054	a0001c0001t0053g0169 a0001c0001t0078g0161 a0001c0005t0052g0174 others(1): Show a0001c0001t0053g0169 a0001c0001t0078g0161 a0001c0005t0052g0174 a0002c0003t0054g0171	4	212	0.0189	-21	c.125 others(38): Show c.1252-345_1252-325delTGTCAGTTACCTGTGCAACGT		GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	10/10						chr10	TogoVar
GFRA3_chr5_138247380_138279621	138258166	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	28	0.0357	-21	c.473 others(36): Show c.473-236_473-216delAAAAAAAAAAAAAAAAAAAAA		GFRA3	ENSG00000146013.11	transcript	ENST00000274721.8	protein_coding	3/7						chr5	TogoVar
GGNBP2_chr17_36539919_36594848	36548615	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA20300.hp1 HG01358.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0295 a0001c0001t0002g0294 a0001c0001t0001g0295 a0001c0001t0002g0294	2	39	0.0513	-21	c.93+ others(36): Show c.93+2815_93+2835delAAAAAAAAAAAAAAAAAAAAA		GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36587573	CTTTGTAA others(14): Show CTTTGTAAAGTTAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	356	0.0028	-21	c.189 others(38): Show c.1890+329_1890+349delTTTGTAAAGTTAAAAAAAAAA		GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	13/13						chr17	TogoVar
GGT1_chr22_24598193_24633996	24605234	ATATTATA others(14): Show ATATTATATATTATATAATATG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02055.hp2 HG02622.hp1 others(7): Show HG01993.hp1 HG02055.hp2 HG02622.hp1 HG02896.hp2 HG02897.hp2 HG03471.hp2 NA18963.hp1 NA18982.hp2 NA19009.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0006t0021 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0006t0021 a0002c0002t0002 a0002c0002t0007	a0001c0001t0001g0177 a0001c0001t0001g0188 a0001c0001t0001g0189 others(7): Show a0001c0001t0001g0177 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0204 a0001c0006t0021g0040 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0007g0033 a0002c0002t0007g0034	10	417	0.0240	-21	c.-42 others(40): Show c.-429+1833_-429+1853delGTATTATATATTATATAATAT		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT6_chr17_4551927_4565577	4564680	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0014 a0003c0006t0014	a0003c0006t0014g0028 a0003c0006t0014g0028	1	456	0.0022	-21	c.-41 others(32): Show c.-4180_-4160delGAAAGAAAGAAAGAAAGAAAG		GGT6	ENSG00000167741.11	transcript	ENST00000381550.8	protein_coding					4104		chr17	TogoVar
GGT6_chr17_4551927_4565577	4564681	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG03209.hp1 NA18954.hp2 others(2): Show HG00408.hp2 HG03209.hp1 NA18954.hp2 NA18997.hp1 NA19065.hp1	a0002 a0007 a0002 a0007	a0002c0003 a0007c0010 a0002c0003 a0007c0010	a0002c0003t0003 a0002c0003t0018 a0007c0010t0012 a0002c0003t0003 a0002c0003t0018 a0007c0010t0012	a0002c0003t0003g0004 a0002c0003t0018g0060 a0007c0010t0012g0023 a0002c0003t0003g0004 a0002c0003t0018g0060 a0007c0010t0012g0023	5	453	0.0110	-21	c.-41 others(32): Show c.-4181_-4161delAGAAAGAAAGAAAGAAAGAAA		GGT6	ENSG00000167741.11	transcript	ENST00000381550.8	protein_coding					4105		chr17	TogoVar
GIGYF1_chr7_100674507_100699250	100694312	ACCGCCGC others(14): Show ACCGCCGCCGCCGCCGCCGCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01257.hp1 HG01258.hp2 others(4): Show HG01109.hp1 HG01257.hp1 HG01258.hp2 HG01433.hp2 HG02451.hp2 HG03688.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 others(1): Show a0001c0001 a0001c0003 a0001c0011 a0001c0022	a0001c0001t0028 a0001c0001t0048 a0001c0003t0006 others(4): Show a0001c0001t0028 a0001c0001t0048 a0001c0003t0006 a0001c0003t0074 a0001c0011t0006 a0001c0011t0023 a0001c0022t0006	a0001c0001t0028g0103 a0001c0001t0048g0111 a0001c0003t0006g0009 others(4): Show a0001c0001t0028g0103 a0001c0001t0048g0111 a0001c0003t0006g0009 a0001c0003t0074g0211 a0001c0011t0006g0214 a0001c0011t0023g0213 a0001c0022t0006g0215	7	11	0.6364	-21	c.-13 others(32): Show c.-1322_-1302delCGGCGGCGGCGGCGGCGGCGG		GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding					63		chr7	TogoVar
GIGYF2_chr2_232692331_232865605	232798979	AATCTGTT others(14): Show AATCTGTTTCTATGAATTTTCT	A A	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0353 a0001c0002t0001g0353	1	374	0.0027	-21	c.163 others(40): Show c.1639+2778_1639+2798delCTATCTGTTTCTATGAATTTT		GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	14/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232847499	TCAGCAGC others(14): Show TCAGCAGCAGCAGCTGCCACAG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01175.hp2 NA20905.hp1 HG01175.hp2 NA20905.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0011 a0003c0007t0011	a0003c0007t0011g0329 a0003c0007t0011g0356 a0003c0007t0011g0329 a0003c0007t0011g0356	2	373	0.0054	-21	c.362 others(30): Show c.3626_3646delTGCCACAGCAGCAGCAGCAGC	p.Leu others(15): Show p.Leu1209_Gln1215del	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	27/29	3797/7816	3626/3900	1209/1299		INFO_REALIGN_3_PRIME	chr2	TogoVar
GINM1_chr6_149561375_149596748	149562296	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 NA18939.hp1 NA20300.hp1 HG01928.hp1 NA18939.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0143 a0001c0001t0007g0008 a0001c0001t0003g0143 a0001c0001t0007g0008	3	376	0.0080	-21	c.-41 others(32): Show c.-4118_-4098delTATATATATATATATATATAT		GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding					4078		chr6	TogoVar
GINM1_chr6_149561375_149596748	149570135	TTTATATA others(14): Show TTTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp2 HG03669.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0020 a0001c0001t0003g0142 a0001c0001t0002g0020 a0001c0001t0003g0142	2	369	0.0054	-21	c.121 others(38): Show c.121-2148_121-2128delTATATATATATATATATATAT		GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
GINS2_chr16_85671198_85693954	85677418	GCATTGTC others(14): Show GCATTGTCACTCATGCTCAATA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01891.hp2 HG02572.hp2 others(3): Show HG00639.hp2 HG01891.hp2 HG02572.hp2 HG02615.hp1 HG02970.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0045 a0001c0003t0018 a0001c0001t0045 a0001c0003t0018	a0001c0001t0045g0185 a0001c0003t0018g0080 a0001c0003t0018g0081 others(3): Show a0001c0001t0045g0185 a0001c0003t0018g0080 a0001c0003t0018g0081 a0001c0003t0018g0082 a0001c0003t0018g0083 a0001c0003t0018g0084	6	468	0.0128	-21	c.77 others(30): Show c.773_*793delTATTGAGCATGAGTGACAATG		GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	5/5				773		chr16	TogoVar
GIPC1_chr19_14472762_14501127	14483748	CAATAATA others(14): Show CAATAATAATAATAATAATAAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp1 others(138): Show HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp1 HG01515.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03491.hp2 HG03540.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19080.hp2 NA19082.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0001c0013 a0001c0017 a0001c0018 a0002c0004 a0009c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0016 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0030 a0001c0003t0038 a0001c0011t0016 a0001c0013t0003 a0001c0017t0001 a0001c0018t0010 a0002c0004t0001 a0009c0010t0005	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(89): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0003g0005 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0003g0263 a0001c0001t0003g0275 a0001c0001t0008g0064 a0001c0001t0008g0065 a0001c0001t0010g0296 a0001c0001t0014g0049 a0001c0001t0014g0330 a0001c0001t0014g0331 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0199 a0001c0002t0004g0258 a0001c0002t0005g0009 a0001c0002t0005g0062 a0001c0002t0005g0063 a0001c0002t0016g0172 a0001c0003t0001g0013 a0001c0003t0001g0032 a0001c0003t0001g0152 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0182 a0001c0003t0001g0198 a0001c0003t0001g0200 a0001c0003t0002g0023 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0003g0253 a0001c0003t0003g0254 a0001c0003t0030g0054 a0001c0003t0038g0174 a0001c0011t0016g0180 a0001c0013t0003g0252 a0001c0017t0001g0112 a0001c0018t0010g0291 a0002c0004t0001g0171 a0009c0010t0005g0057	141	185	0.7622	-21	c.-30 others(36): Show c.-30-763_-30-743delATTATTATTATTATTATTATT		GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	3/8						chr19	TogoVar
GIPC1_chr19_14472762_14501127	14496041	TCCGCCGC others(14): Show TCCGCCGCCGCCGCCGCCGCCG	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0021 a0001c0007t0021	a0001c0007t0021g0019 a0001c0007t0021g0019	2	195	0.0103	-21	c.-20 others(30): Show c.-200_-180delCGGCGGCGGCGGCGGCGGCGG		GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	1/9				13066		chr19	TogoVar
GIPC2_chr1_78040966_78143444	78142354	ATGTGTGT others(14): Show ATGTGTGTGTGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0065 a0002c0002t0022g0065	1	15	0.0667	-21	c.66 others(32): Show c.6612_*6632delTGTGTGTGTGTGTGTGTGTGT		GIPC2	ENSG00000137960.6	transcript	ENST00000370759.4	protein_coding					3911		chr1	TogoVar
GJA3_chr13_20133255_20166052	20163240	TAGGTAGA others(14): Show TAGGTAGACAACTAAGATGTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01109.hp2 others(11): Show HG00639.hp1 HG00738.hp1 HG01109.hp2 HG02451.hp1 HG02451.hp2 HG02630.hp2 HG03098.hp2 HG03139.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03942.hp2 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003	a0001c0001t0004 a0001c0001t0007 a0001c0001t0030 others(3): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0030 a0001c0002t0006 a0001c0007t0031 a0002c0003t0005	a0001c0001t0004g0070 a0001c0001t0004g0085 a0001c0001t0004g0115 others(8): Show a0001c0001t0004g0070 a0001c0001t0004g0085 a0001c0001t0004g0115 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0001t0007g0127 a0001c0001t0030g0128 a0001c0002t0006g0008 a0001c0002t0006g0132 a0001c0007t0031g0123 a0002c0003t0005g0116	14	390	0.0359	-21	c.-23 others(32): Show c.-2389_-2369delGAACATCTTAGTTGTCTACCT		GJA3	ENSG00000121743.4	transcript	ENST00000241125.4	protein_coding					2189		chr13	TogoVar
GJD2_chr15_34746032_34759998	34746226	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0045 a0001c0003t0004g0045	1	444	0.0023	-21	c.62 others(32): Show c.6231_*6251delATATATATTTTTTTTTTTTTT		GJD2	ENSG00000159248.5	transcript	ENST00000290374.5	protein_coding					4805		chr15	TogoVar
GLB1_chr3_32991617_33102146	33031635	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0203 a0001c0001t0004g0203	1	378	0.0026	-21	c.106 others(40): Show c.1069-7331_1069-7311delATATATATATATATATTTTTT		GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	10/15						chr3	TogoVar
GLCCI1_chr7_7963796_8094080	7976496	AAAGGAAA others(14): Show AAAGGAAAGGAAAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp1 HG02145.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0018 a0001c0001t0029g0029 a0001c0001t0029g0018 a0001c0001t0029g0029	2	407	0.0049	-21	c.457 others(38): Show c.457+6691_457+6711delAGGAAAGGAAAAAGGAAAGGA		GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
GLIPR1L2_chr12_75386089_75437688	75390947	CTTCTCTC others(14): Show CTTCTCTCCTCCCTCCTCCTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0119 a0001c0002t0002g0119	1	358	0.0028	-21	c.-16 others(30): Show c.-169_-149delTTCTCTCCTCCCTCCTCCTTA		GLIPR1L2	ENSG00000180481.11	transcript	ENST00000550916.6	protein_coding					141		chr12	TogoVar
GLIPR1L2_chr12_75386089_75437688	75432807	TGAGAAAA others(14): Show TGAGAAAAAGCCTTAGGTAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	358	0.0028	-21	c.16 others(32): Show c.1647_*1667delGAGAAAAAGCCTTAGGTAGAG		GLIPR1L2	ENSG00000180481.11	transcript	ENST00000550916.6	protein_coding					120		chr12	TogoVar
GLIS1_chr1_53501239_53744164	53543009	TCAGTGTA others(14): Show TCAGTGTAAGCCCCCCAAAACC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03471.hp2 NA18522.hp2 HG02622.hp1 HG03471.hp2 NA18522.hp2	a0001 a0004 a0021 a0001 a0004 a0021	a0001c0001 a0004c0026 a0021c0045 a0001c0001 a0004c0026 a0021c0045	a0001c0001t0002 a0004c0026t0003 a0021c0045t0004 a0001c0001t0002 a0004c0026t0003 a0021c0045t0004	a0001c0001t0002g0232 a0004c0026t0003g0006 a0021c0045t0004g0100 a0001c0001t0002g0232 a0004c0026t0003g0006 a0021c0045t0004g0100	3	234	0.0128	-21	c.132 others(42): Show c.1321-13078_1321-13058delGGTTTTGGGGGGCTTACACTG		GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	4/10						chr1	TogoVar
GLIS3_chr9_3819127_4305068	3976795	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02486.hp2 HG02622.hp2 HG01361.hp1 HG02486.hp2 HG02622.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0001c0001t0054 a0002c0002t0013 a0001c0001t0008 a0001c0001t0054 a0002c0002t0013	a0001c0001t0008g0130 a0001c0001t0054g0089 a0002c0002t0013g0080 a0001c0001t0008g0130 a0001c0001t0054g0089 a0002c0002t0013g0080	3	12	0.2500	-21	c.171 others(42): Show c.1711-39627_1711-39607delTTTTTTTTTTTTTTTTTTTTT		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10						chr9	TogoVar
GLIS3_chr9_3819127_4305068	4112994	ATCTACAT others(14): Show ATCTACATAAATCTAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02615.hp2 HG02886.hp2 others(4): Show HG01243.hp1 HG02615.hp2 HG02886.hp2 HG02965.hp2 HG03225.hp1 NA18906.hp2 NA19240.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0009 a0001c0001 a0009c0009	a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 others(4): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0009c0009t0004 a0009c0009t0036	a0001c0001t0004g0081 a0001c0001t0012g0043 a0001c0001t0013g0046 others(4): Show a0001c0001t0004g0081 a0001c0001t0012g0043 a0001c0001t0013g0046 a0001c0001t0018g0085 a0001c0001t0021g0025 a0009c0009t0004g0028 a0009c0009t0036g0005	7	188	0.0372	-21	c.171 others(40): Show c.1710+4753_1710+4773delATTTATTTAGATTTATGTAGA		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10						chr9	TogoVar
GLIS3_chr9_3819127_4305068	4216391	TGAGCTTG others(14): Show TGAGCTTGCAGTGAGAAAGGCG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02486.hp2 HG02818.hp1 others(3): Show HG00735.hp2 HG02486.hp2 HG02818.hp1 HG02895.hp1 HG03669.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0019 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0019 a0001c0001t0042 a0001c0001t0054 a0002c0002t0007	a0001c0001t0001g0121 a0001c0001t0005g0168 a0001c0001t0019g0015 others(3): Show a0001c0001t0001g0121 a0001c0001t0005g0168 a0001c0001t0019g0015 a0001c0001t0042g0016 a0001c0001t0054g0089 a0002c0002t0007g0031	6	188	0.0319	-21	c.388 others(40): Show c.388+69626_388+69646delCGCCTTTCTCACTGCAAGCTC		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	2/10						chr9	TogoVar
GLRA3_chr4_174631920_174834247	174671556	TTATATTT others(14): Show TTATATTTTCTAATAGTTATAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0237 a0001c0001t0011g0237	1	294	0.0034	-21	c.927 others(38): Show c.927+5501_927+5521delTTATAACTATTAGAAAATATA		GLRA3	ENSG00000145451.13	transcript	ENST00000274093.8	protein_coding	7/9						chr4	TogoVar
GLS_chr2_190875821_190970552	190880872	CGCAGCAG others(14): Show CGCAGCAGCAGCAGCAGCAGCA	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00558.hp2 HG01257.hp1 HG02083.hp1 others(10): Show HG00558.hp2 HG01257.hp1 HG02083.hp1 NA18950.hp2 NA18953.hp2 NA18967.hp1 NA18993.hp1 NA18998.hp1 NA19000.hp1 NA19005.hp1 NA19057.hp2 NA19077.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0040 a0001c0002t0007 a0001c0001t0040 a0001c0002t0007	a0001c0001t0040g0065 a0001c0002t0007g0269 a0001c0002t0007g0270 others(10): Show a0001c0001t0040g0065 a0001c0002t0007g0269 a0001c0002t0007g0270 a0001c0002t0007g0271 a0001c0002t0007g0272 a0001c0002t0007g0273 a0001c0002t0007g0274 a0001c0002t0007g0275 a0001c0002t0007g0276 a0001c0002t0007g0277 a0001c0002t0007g0278 a0001c0002t0007g0279 a0001c0002t0007g0280	13	53	0.2453	-21	c.-18 others(30): Show c.-185_-165delGCAGCAGCAGCAGCAGCAGCA		GLS	ENSG00000115419.14	transcript	ENST00000320717.8	protein_coding	1/18				165	INFO_REALIGN_3_PRIME	chr2	TogoVar
GLT1D1_chr12_128848478_128989968	128874122	CTCTCTTT others(14): Show CTCTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0002 a0006c0016t0002	a0006c0016t0002g0207 a0006c0016t0002g0207	1	301	0.0033	-21	c.69- others(36): Show c.69-1790_69-1770delCTCTTTCTTTCTTTCTTTCTT		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128971726	TCCCCCCT others(14): Show TCCCCCCTCCATCCTCCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	252	0.0040	-21	c.880 others(40): Show c.880-11198_880-11178delCCTCCATCCTCCCTTCCCCCC		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT8D2_chr12_103983987_104055187	103995361	ACAGCGAC others(14): Show ACAGCGACCACCTTTAATGAAC	A A	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18954.hp1 NA18956.hp2 others(3): Show NA18947.hp1 NA18954.hp1 NA18956.hp2 NA18967.hp2 NA18992.hp1 NA19080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0304 a0001c0003t0001g0310 a0001c0003t0001g0312 others(3): Show a0001c0003t0001g0304 a0001c0003t0001g0310 a0001c0003t0001g0312 a0001c0003t0001g0314 a0001c0003t0001g0317 a0001c0003t0002g0385	6	414	0.0145	-21	c.601 others(36): Show c.601-881_601-861delGTTCATTAAAGGTGGTCGCTG		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	8/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021867	AAAGAAGA others(14): Show AAAGAAGAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	374	0.0027	-21	c.-16 others(38): Show c.-163-397_-163-377delCTTCTTCTTCTTCTTCTTCTT		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021935	AGAAGAAG others(14): Show AGAAGAAGAAGAAGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01515.hp2 HG02040.hp2 others(8): Show HG01192.hp1 HG01515.hp2 HG02040.hp2 HG02738.hp2 HG03491.hp1 HG03492.hp2 NA18747.hp2 NA18940.hp2 NA18967.hp1 NA18969.hp1 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0075 a0001c0001t0002g0333 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0075 a0001c0001t0002g0333 a0001c0001t0002g0354 a0001c0001t0002g0362 a0001c0001t0002g0386 a0001c0001t0003g0175 a0001c0001t0003g0187 a0001c0003t0001g0272 a0002c0002t0001g0253	11	382	0.0288	-21	c.-16 others(38): Show c.-163-465_-163-445delCTCTTCTTCTTCTTCTTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021944	AGAAGAAG others(14): Show AGAAGAAGAAGAGGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02145.hp1 HG02698.hp1 others(2): Show HG00639.hp2 HG02145.hp1 HG02698.hp1 NA19080.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0064 a0001c0001t0001g0146 a0001c0001t0001g0157 others(2): Show a0001c0001t0001g0064 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0003g0190 a0001c0001t0003g0201	5	329	0.0152	-21	c.-16 others(38): Show c.-163-474_-163-454delCTCTTCTTCCTCTTCTTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104022002	GAAGAAGA others(14): Show GAAGAAGAAGAAGAAGAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp1 HG01070.hp1 others(8): Show HG00597.hp2 HG00733.hp1 HG01070.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG03239.hp2 HG03516.hp2 NA18969.hp2 NA19005.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0098 a0001c0001t0001g0279 a0001c0001t0002g0007 others(7): Show a0001c0001t0001g0098 a0001c0001t0001g0279 a0001c0001t0002g0007 a0001c0001t0002g0340 a0001c0001t0002g0341 a0002c0002t0001g0005 a0002c0002t0001g0236 a0002c0002t0001g0247 a0002c0002t0001g0252 a0002c0002t0001g0261	11	414	0.0266	-21	c.-16 others(38): Show c.-163-532_-163-512delTTTCTTCTTCTTCTTCTTCTT		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104022037	AGAAGAAG others(14): Show AGAAGAAGAAGAAGAAGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	411	0.0024	-21	c.-16 others(38): Show c.-163-567_-163-547delCCCTTCTTCTTCTTCTTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GMDS_chr6_1618806_2250605	2067882	AGAAAAAG others(14): Show AGAAAAAGAGGGAATCCTCCCT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	164	0.0061	-21	c.345 others(40): Show c.345+47868_345+47888delAGGGAGGATTCCCTCTTTTTC		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10						chr6	TogoVar
GMPR_chr6_16233587_16300549	16263558	AAAGGGGT others(14): Show AAAGGGGTTGGGGCGTGGAAAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0267 a0001c0001t0010g0267	1	342	0.0029	-21	c.465 others(38): Show c.465+8835_465+8855delGCGTGGAAATAAGGGGTTGGG		GMPR	ENSG00000137198.10	transcript	ENST00000259727.5	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
GMPR_chr6_16233587_16300549	16263591	ATGCAGAG others(14): Show ATGCAGAGATAAGAGGTCGGGT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	342	0.0029	-21	c.465 others(38): Show c.465+8877_465+8897delTTGCAGAGATAAGAGGTCGGG		GMPR	ENSG00000137198.10	transcript	ENST00000259727.5	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
GNA13_chr17_65004289_65061740	65018092	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp1 HG02109.hp1 others(15): Show HG01099.hp1 HG01884.hp1 HG02109.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024	a0001c0001t0001g0064 a0001c0001t0003g0001 a0001c0001t0003g0126 others(13): Show a0001c0001t0001g0064 a0001c0001t0003g0001 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0009g0154 a0001c0001t0018g0135 a0001c0001t0023g0129 a0001c0001t0024g0134	18	34	0.5294	-21	c.561 others(36): Show c.561+140_561+160delTTTTTTTTTTTTTTTTTTTTT		GNA13	ENSG00000120063.10	transcript	ENST00000439174.7	protein_coding	3/3						chr17	TogoVar
GNA14_chr9_77418079_77653322	77567813	GCCAAGAT others(14): Show GCCAAGATTGCACCACTGTACT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01169.hp2 HG02109.hp2 others(17): Show HG01074.hp1 HG01169.hp2 HG02109.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02965.hp2 HG02970.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA19030.hp2 NA19043.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0015 a0004c0013	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(10): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0005t0011 a0001c0005t0014 a0001c0006t0001 a0001c0008t0001 a0001c0010t0001 a0001c0015t0010 a0004c0013t0001	a0001c0001t0001g0021 a0001c0001t0001g0059 a0001c0001t0001g0126 others(17): Show a0001c0001t0001g0021 a0001c0001t0001g0059 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0008g0190 a0001c0001t0009g0154 a0001c0001t0013g0138 a0001c0002t0001g0124 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0002g0221 a0001c0005t0011g0160 a0001c0005t0014g0238 a0001c0006t0001g0144 a0001c0008t0001g0132 a0001c0008t0001g0133 a0001c0010t0001g0030 a0001c0015t0010g0139 a0004c0013t0001g0085	20	238	0.0840	-21	c.125 others(40): Show c.125-38581_125-38561delAGTACAGTGGTGCAATCTTGG		GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6						chr9	TogoVar

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