Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EXOC6B_chr2_72170984_72831033	72401502	TATATATA others(137): Show TATATATATATATACATATATACATATATATATATATATATATGTGTATA TATATATATATATACATATATATATATATACATATATATATATATATATA TGTGTATATATATATATATACATATATATATATATACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02717.hp1 HG01516.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0046 a0001c0002t0004g0017 a0001c0001t0003g0046 a0001c0002t0004g0017	2	104	0.0192	-144	c.198 others(21): Show c.1981-21776_1981-21633del		EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21						chr2	TogoVar
FAM161A_chr2_61819848_61859060	61848834	ATATTTAT others(137): Show ATATTTATATATATATTTATATATATATTTATATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATTTATATATATTTATATAT ATATATTTATATATATTTATATATATATTTATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	400	0.0025	-144	c.183 others(17): Show c.183+4881_183+5024del		FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6						chr2	TogoVar
FAM161A_chr2_61819848_61859060	61848872	ATTTATAT others(137): Show ATTTATATATATATTTATATATATTTATATATATATTTATATATTTATAT ATATTTATATATATATATTTATATATATTTATATATATATTTATATATAT ATATATTTATATATTTATATATATTTATATATATATTTATATATT	A A	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19064.hp1 NA19075.hp1 NA18947.hp2 NA19064.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0102 a0001c0001t0001g0028 a0001c0001t0001g0102	3	400	0.0075	-144	c.183 others(17): Show c.183+4843_183+4986del		FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6						chr2	TogoVar
FAM161A_chr2_61819848_61859060	61848912	ATATTTAT others(137): Show ATATTTATATATATTTATATATATATATTTATATATATTTATATATATAT TTATATATATATATATTTATATATTTATATATATTTATATATATATTTAT ATATTTATATATATTTATATATATATTTATATATTTATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0265 a0004c0005t0005g0265	1	400	0.0025	-144	c.183 others(17): Show c.183+4803_183+4946del		FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6						chr2	TogoVar
FAM161A_chr2_61819848_61859060	61848925	TTTATATA others(137): Show TTTATATATATATATTTATATATATTTATATATATATTTATATATATATA TATTTATATATTTATATATATTTATATATATATTTATATATTTATATATA TTTATATATATATTTATATATTTATATATATTTATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0278	1	400	0.0025	-144	c.183 others(17): Show c.183+4790_183+4933del		FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6						chr2	TogoVar
FANCI_chr15_89238979_89322131	89296216	GGCCTCCC others(137): Show GGCCTCCCAAAGTGCTGGGTTTACAGGCGTGAGCCACTGCACCTGGCCCT TATTTTTTTTTTTTTAATTTTCTGTAGAGATAGGATTTCACCATATTGCC CAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATACGCCCATCTCA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0173 a0002c0002t0002g0173	1	346	0.0029	-144	c.263 others(19): Show c.2636+1141_2636+1284del		FANCI	ENSG00000140525.20	transcript	ENST00000310775.12	protein_coding	24/37					INFO_REALIGN_3_PRIME	chr15	TogoVar
FBXL19_chr16_30918572_30953783	30918832	TCTTTCTT others(137): Show TCTTTCTTCTTCTTCTCCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTCC TTCTCCTCCTCCTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	238	0.0042	-144	c.-56 others(11): Show c.-5651_-5508del		FBXL19	ENSG00000099364.18	transcript	ENST00000338343.10	protein_coding					4739		chr16	TogoVar
FCER2_chr19_7683776_7707131	7692599	CCTTACAG others(137): Show CCTTACAGCCAGCAGAACGCCAGTCACTAACACCATCGCCATCAGCACTT CGTGGTTAGCAACACCTCAGCTGACGCCAATGTCACCACAAACACCTCAT GGCCAGAAGCAGCTCAACCACCAACACCGTTATTATAAATACATT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02896.hp1 others(1): Show HG02109.hp2 HG02451.hp2 HG02896.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0001 a0002c0002t0001 a0001c0005t0001 a0002c0002t0001	a0001c0005t0001g0224 a0002c0002t0001g0033 a0002c0002t0001g0078 a0001c0005t0001g0224 a0002c0002t0001g0033 a0002c0002t0001g0078	4	456	0.0088	-144	c.470 others(17): Show c.470-2186_470-2043del		FCER2	ENSG00000104921.15	transcript	ENST00000597921.6	protein_coding	8/10						chr19	TogoVar
FEZ2_chr2_36547258_36603168	36596671	TTGCCCAG others(137): Show TTGCCCAGTCTGGTCTCGAACTGCTGGAAGCAAGCCATCCTCCCACCACA GCCTCTCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGCCCAATCTTA TTCCACTCATTTTACCTTCAGCCTCTCCGGAGGCTCCTCTCCCCC	T T	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	404	0.0025	-144	c.266 others(17): Show c.266+1062_266+1205del		FEZ2	ENSG00000171055.15	transcript	ENST00000405912.8	protein_coding	1/7						chr2	TogoVar
FLT4_chr5_180596506_180654600	180639098	CATGGATG others(137): Show CATGGATGGATGGATGAATGGATGGATGGATGCATGGGTGGGTGGAGGAG TGGATGGGTGGGTGAGTAGAAGGATGGATGGGTGGATGGATGGACAGACA GATGAATGGATGGATGGACAGGTAGATGAGTGGATGGGTGGACGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00438.hp2 others(57): Show HG00099.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG02056.hp2 HG02135.hp1 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02886.hp2 HG02896.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp2 HG03516.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18943.hp1 NA18947.hp1 NA18951.hp1 NA18954.hp2 NA18984.hp1 NA18984.hp2 NA18995.hp1 NA18995.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19062.hp2 NA19064.hp2 NA19087.hp2 NA19090.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0006 a0007 a0008 a0015 a0018 a0019 a0020 a0022 a0029	a0001c0001 a0001c0006 a0001c0013 others(17): Show a0001c0001 a0001c0006 a0001c0013 a0001c0052 a0002c0002 a0002c0003 a0002c0004 a0002c0012 a0002c0022 a0003c0005 a0006c0014 a0007c0010 a0008c0025 a0008c0027 a0015c0026 a0018c0039 a0019c0040 a0020c0044 a0022c0045 a0029c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0006t0001 a0001c0006t0002 a0001c0013t0001 a0001c0052t0001 a0002c0002t0004 a0002c0003t0007 a0002c0003t0010 a0002c0004t0003 a0002c0004t0005 a0002c0004t0031 a0002c0012t0001 a0002c0012t0023 a0002c0022t0003 a0003c0005t0001 a0003c0005t0002 a0006c0014t0002 a0007c0010t0015 a0008c0025t0017 a0008c0027t0017 a0015c0026t0002 a0018c0039t0001 a0019c0040t0002 a0020c0044t0005 a0022c0045t0005 a0029c0028t0010	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0062 others(57): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0062 a0001c0001t0001g0360 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0003g0050 a0001c0001t0006g0051 a0001c0006t0001g0154 a0001c0006t0001g0157 a0001c0006t0001g0158 a0001c0006t0001g0282 a0001c0006t0001g0359 a0001c0006t0002g0155 a0001c0013t0001g0146 a0001c0013t0001g0150 a0001c0013t0001g0151 a0001c0052t0001g0153 a0002c0002t0004g0080 a0002c0003t0007g0369 a0002c0003t0010g0043 a0002c0003t0010g0178 a0002c0004t0003g0149 a0002c0004t0005g0053 a0002c0004t0005g0054 a0002c0004t0005g0145 a0002c0004t0005g0156 a0002c0004t0005g0232 a0002c0004t0005g0278 a0002c0004t0005g0280 a0002c0004t0005g0283 a0002c0004t0005g0284 a0002c0004t0005g0285 a0002c0004t0005g0322 a0002c0004t0005g0364 a0002c0004t0031g0279 a0002c0012t0001g0052 a0002c0012t0023g0045 a0002c0022t0003g0147 a0002c0022t0003g0148 a0003c0005t0001g0034 a0003c0005t0001g0036 a0003c0005t0001g0037 a0003c0005t0001g0058 a0003c0005t0001g0152 a0003c0005t0001g0160 a0003c0005t0001g0175 a0003c0005t0001g0176 a0003c0005t0002g0042 a0006c0014t0002g0374 a0007c0010t0015g0044 a0008c0025t0017g0009 a0008c0027t0017g0008 a0015c0026t0002g0308 a0018c0039t0001g0040 a0019c0040t0002g0046 a0020c0044t0005g0281 a0022c0045t0005g0159 a0029c0028t0010g0179	60	388	0.1546	-144	c.59- others(15): Show c.59-7464_59-7321del		FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29						chr5	TogoVar
FMN1_chr15_32760544_33199714	32777788	TATATATT others(137): Show TATATATTATGTATAATATAATACATTTATTTATATATTATGTATAATAT ATAATACATTAATTATATATTATGTATAATATATAATACATTATATATTA TGTATAATATATAATACATTATATATTATGTATAATATATAATAC	T T	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA19064.hp1 NA20752.hp1 NA18991.hp2 NA19064.hp1 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0013 a0001c0001 a0005c0013	a0001c0001t0002 a0005c0013t0002 a0001c0001t0002 a0005c0013t0002	a0001c0001t0002g0065 a0001c0001t0002g0170 a0005c0013t0002g0130 a0001c0001t0002g0065 a0001c0001t0002g0170 a0005c0013t0002g0130	3	196	0.0153	-144	c.413 others(18): Show c.4131-1013_4131-870del		FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20						chr15	TogoVar
FOXN3_chr14_89151177_89422233	89361027	CCACCACC others(137): Show CCACCACCTCCACCACCACCACCTCCAGCACTACCTCCAGCACCACCTCC ACCACCACCACCTCCAGCACCACCACCACCACCACCTCCACCACTACCAC CTCCAGCACCACCTCCACCACCACCACCTCCAGCACTACCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0170 a0001c0001t0089g0170	1	230	0.0044	-144	c.544 others(19): Show c.544-10363_544-10220del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FYTTD1_chr3_197744883_197792596	197774630	ACCAGTGC others(137): Show ACCAGTGCACACCATCCTGAGCAGCATAGCTCGATCGCCAGTGCATACCA TCCTGAGCAGCATAGCTCGATCGCCAGTGCACACCAGCCTGAGCAGCATA GCTCGATCGCCAGTGCACACCAGCCTGAGCAGCATAGCTCGATGG	A A	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	256	0.0039	-144	c.656 others(15): Show c.656+491_656+634del		FYTTD1	ENSG00000122068.13	transcript	ENST00000241502.9	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr3	TogoVar
GABRG3_chr15_26966181_27546984	27305924	TTATATAT others(137): Show TTATATATAAACATATATAATATAAACCTATATGTTTATATATAAACATA TATAATATAAACCTATATGTTTATATATAAACATATATAATATAAACCTA TATGTTTATATATAAACATATATAATATAAACCTATATGTTTATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	92	0.0109	-144	c.271 others(19): Show c.271-20880_271-20737del		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241805638	TCCCCCCT others(137): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0054 a0002c0002t0002g0054	1	314	0.0032	-144	c.14 others(11): Show c.1473_*1616del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1352		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806501	TCCCCCCT others(137): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01346.hp2 NA19030.hp1 HG01261.hp2 HG01346.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0207 a0001c0001t0002g0001 a0002c0002t0002g0113 a0001c0001t0001g0207 a0001c0001t0002g0001 a0002c0002t0002g0113	3	314	0.0096	-144	c.23 others(11): Show c.2336_*2479del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2215		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806536	TCCCCCCT others(137): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	314	0.0032	-144	c.23 others(11): Show c.2371_*2514del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2250		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806649	TCCCCCCT others(137): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	314	0.0032	-144	c.24 others(11): Show c.2484_*2627del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2363		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806995	CCCCTCAG others(137): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	314	0.0032	-144	c.28 others(11): Show c.2830_*2973del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2709		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807939	TCCCCCCT others(137): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CTGCAGGCCACTCTCCCCTCTTAGCCCAGGGACCTCGGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	314	0.0032	-144	c.37 others(11): Show c.3774_*3917del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3653		chr2	TogoVar
GALNS_chr16_88808734_88861947	88831205	CGAGGAGA others(137): Show CGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTG AGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGG GTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02074.hp2 HG02129.hp2 others(4): Show HG01891.hp1 HG02074.hp2 HG02129.hp2 HG03540.hp1 NA18990.hp1 NA18992.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0198 a0001c0002t0002g0014 a0001c0002t0002g0052 others(4): Show a0001c0002t0001g0198 a0001c0002t0002g0014 a0001c0002t0002g0052 a0001c0002t0002g0055 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0248	7	404	0.0173	-144	c.100 others(17): Show c.1002+649_1002+792del		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13						chr16	TogoVar
GALNS_chr16_88808734_88861947	88831486	TGCGTGGG others(137): Show TGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAG AGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGA GCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp2 HG02717.hp1 others(1): Show HG01070.hp1 HG01074.hp2 HG02717.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0219 a0001c0001t0001g0256 others(1): Show a0001c0001t0001g0191 a0001c0001t0001g0219 a0001c0001t0001g0256 a0001c0001t0001g0289	4	404	0.0099	-144	c.100 others(17): Show c.1002+368_1002+511del		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13						chr16	TogoVar
GALNT14_chr2_30905467_31143440	30923079	TGAAATGG others(137): Show TGAAATGGAGTTTCACTATTGTTGCCTGGGCTGGAGTGCAATGGTGTGAT CTCGGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTCCTGCCT CAGCCCCCTGAGTAGCTGGGATTACAGGCGCATGCCACCCTGCCC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0115 a0003c0007t0001g0115	1	226	0.0044	-144	c.138 others(18): Show c.1380+896_1380+1039del		GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	13/14						chr2	TogoVar
GALNT9_chr12_132191372_132334589	132231354	GTGCCACA others(137): Show GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0002 a0002c0032t0002	a0002c0032t0002g0167 a0002c0032t0002g0167	1	183	0.0055	-144	c.107 others(21): Show c.1077+16412_1077+16555del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132231666	AGAGGAGA others(137): Show AGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAG AGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGGG ACAGCGTGGAGCCCCTAGTGCTACACACTCGATGGGGCGACAGAG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02132.hp1 HG02040.hp2 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0111 a0001c0002t0001g0141 a0001c0001t0001g0111 a0001c0002t0001g0141	2	183	0.0109	-144	c.107 others(21): Show c.1077+16100_1077+16243del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132231777	CCCCTAGT others(137): Show CCCCTAGTGCTACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0014 a0001c0026t0014	a0001c0026t0014g0052 a0001c0026t0014g0052	1	183	0.0055	-144	c.107 others(21): Show c.1077+15989_1077+16132del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132231879	GTGCCACA others(137): Show GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAC	G G	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0168 a0001c0009t0002g0168	1	183	0.0055	-144	c.107 others(21): Show c.1077+15887_1077+16030del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132231921	TCCCTAGT others(137): Show TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCC TACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0061 a0001c0007t0001g0061	1	183	0.0055	-144	c.107 others(21): Show c.1077+15845_1077+15988del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232391	TGTGGAGT others(137): Show TGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTG GAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02165.hp2 NA18953.hp1 others(8): Show HG02135.hp2 HG02165.hp2 NA18953.hp1 NA18961.hp2 NA18966.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp2 NA19067.hp2 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0001c0004 a0001c0005 others(4): Show a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0004c0024	a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 others(4): Show a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0002 a0001c0009t0002 a0004c0024t0001	a0001c0003t0001g0014 a0001c0003t0001g0041 a0001c0003t0001g0128 others(8): Show a0001c0003t0001g0014 a0001c0003t0001g0041 a0001c0003t0001g0128 a0001c0003t0001g0166 a0001c0004t0001g0121 a0001c0005t0001g0037 a0001c0007t0001g0015 a0001c0007t0001g0159 a0001c0008t0002g0182 a0001c0009t0002g0175 a0004c0024t0001g0160	11	183	0.0601	-144	c.107 others(21): Show c.1077+15375_1077+15518del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232439	CGTGGAGT others(137): Show CGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTG GAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0154 a0001c0004t0001g0154	1	183	0.0055	-144	c.107 others(21): Show c.1077+15327_1077+15470del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232548	GTGCCACA others(137): Show GTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAC	G G	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18962.hp1 NA19009.hp1 NA18952.hp1 NA18962.hp1 NA19009.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0001 a0001c0005t0001 a0001c0004t0001 a0001c0005t0001	a0001c0004t0001g0112 a0001c0004t0001g0157 a0001c0005t0001g0018 a0001c0004t0001g0112 a0001c0004t0001g0157 a0001c0005t0001g0018	3	183	0.0164	-144	c.107 others(21): Show c.1077+15218_1077+15361del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233398	CGTGGAGC others(137): Show CGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTG GAGTCCCTAGTGCCACACACTCGATGGGGTGACAGAGGAGACAGT	C C	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0163 a0001c0002t0001g0163	1	183	0.0055	-144	c.107 others(21): Show c.1077+14368_1077+14511del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233687	GTGGAGTC others(137): Show GTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGT GGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGG AGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp1 HG02723.hp2 others(1): Show HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0019 a0001c0006 a0001c0019	a0001c0006t0001 a0001c0019t0003 a0001c0006t0001 a0001c0019t0003	a0001c0006t0001g0073 a0001c0006t0001g0078 a0001c0006t0001g0142 others(1): Show a0001c0006t0001g0073 a0001c0006t0001g0078 a0001c0006t0001g0142 a0001c0019t0003g0077	4	183	0.0219	-144	c.107 others(21): Show c.1077+14079_1077+14222del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233914	CAGAGGAG others(137): Show CAGAGGAGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03041.hp1 HG03139.hp1 HG02895.hp2 HG03041.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0149 a0001c0002t0001g0081 a0001c0002t0005g0066 a0001c0001t0001g0149 a0001c0002t0001g0081 a0001c0002t0005g0066	3	183	0.0164	-144	c.107 others(21): Show c.1077+13852_1077+13995del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234311	GTGGAGTC others(137): Show GTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGT GGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGG AGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02148.hp2 others(4): Show HG02055.hp1 HG02109.hp2 HG02148.hp2 HG02615.hp1 HG02809.hp1 HG03225.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0009 others(2): Show a0001c0001 a0001c0004 a0001c0009 a0001c0016 a0001c0017	a0001c0001t0001 a0001c0004t0001 a0001c0009t0002 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0009t0002 a0001c0016t0001 a0001c0017t0001	a0001c0001t0001g0072 a0001c0004t0001g0016 a0001c0009t0002g0168 others(4): Show a0001c0001t0001g0072 a0001c0004t0001g0016 a0001c0009t0002g0168 a0001c0016t0001g0054 a0001c0016t0001g0147 a0001c0017t0001g0049 a0001c0017t0001g0148	7	183	0.0383	-144	c.107 others(21): Show c.1077+13455_1077+13598del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234365	CCCCTAGT others(137): Show CCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	183	0.0055	-144	c.107 others(21): Show c.1077+13401_1077+13544del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234413	TCCCTAGT others(137): Show TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0009 a0001c0035t0009	a0001c0035t0009g0140 a0001c0035t0009g0140	1	183	0.0055	-144	c.107 others(21): Show c.1077+13353_1077+13496del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234845	TCCCTAGT others(137): Show TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01346.hp2 HG01928.hp2 others(6): Show HG01243.hp2 HG01346.hp2 HG01928.hp2 HG02615.hp2 HG03209.hp2 HG03486.hp2 HG03492.hp2 HG03688.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0028	a0001c0001t0011 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0011 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0007t0010 a0001c0028t0001	a0001c0001t0011g0050 a0001c0002t0001g0080 a0001c0002t0001g0152 others(6): Show a0001c0001t0011g0050 a0001c0002t0001g0080 a0001c0002t0001g0152 a0001c0003t0001g0093 a0001c0003t0001g0103 a0001c0003t0001g0137 a0001c0006t0001g0097 a0001c0007t0010g0108 a0001c0028t0001g0144	9	183	0.0492	-144	c.107 others(21): Show c.1077+12921_1077+13064del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234898	AGTGCCAC others(137): Show AGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAG TGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGCCCCTAGTG CCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01109.hp1 HG00140.hp1 HG01109.hp1	a0001 a0001	a0001c0007 a0001c0025 a0001c0007 a0001c0025	a0001c0007t0001 a0001c0025t0012 a0001c0007t0001 a0001c0025t0012	a0001c0007t0001g0104 a0001c0025t0012g0048 a0001c0007t0001g0104 a0001c0025t0012g0048	2	183	0.0109	-144	c.107 others(21): Show c.1077+12868_1077+13011del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GARIN2_chr14_67184440_67228940	67192871	TATATAGA others(137): Show TATATAGATATATATCTAGATATCGATATCTAGATATATATAGATATATA TGTATATATAGATATCTAGATAAATATCTCTATATATCTATATATCGATA TCTAGATATAGATCTCTCTATATATCTCTATATATCAATATCTAG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	332	0.0030	-144	c.-11 others(19): Show c.-114+3315_-114+3458del		GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr14	TogoVar
GATA5_chr20_62458497_62480995	62476922	TTTCTTTC others(137): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTTTCTT TCTCGGAGCACACCGGGTGGACCCAGGCTTGGCGGCCATGAAAGTTCTTT TTTCTTTCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0267 a0001c0003t0016g0267	1	382	0.0026	-144	c.-11 others(11): Show c.-1158_-1015del		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					928		chr20	TogoVar
GDF2_chr10_47317454_47332588	47329188	AGTGTGTG others(137): Show AGTGTGTGCACACTGGGGTGAGTGATGTGGTGTGTGCACCCTGGGGTGAG TGATGCAGTGTGTGCACCGTGGGGTGAGTGATGCGGTGTGTGCACACTGG GGTGAGTGACGTGGTGTGTGCACACAGAGGGGGGTGAGTGATGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	424	0.0024	-144	c.34 others(11): Show c.3405_*3548del		GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding					1601		chr10	TogoVar
GNG12_chr1_67696475_67838467	67710024	TTATATAT others(137): Show TTATATATATATAGTTATATATATAGTTATATATATATAGTTATATATAT AGTTATATATATATAGTTATATATATAGTTATATATATAGTTATATATAT AGTTATATATATAGTTATATATATATAGTTATATATATATAGTTA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp2 HG02486.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0166 a0001c0001t0018g0167 a0001c0001t0018g0166 a0001c0001t0018g0167	2	274	0.0073	-144	c.-26 others(17): Show c.-26-2456_-26-2313del		GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3						chr1	TogoVar
GOLGA6L22_chr15_22453903_22474226	22466133	GAGGAGAA others(137): Show GAGGAGAAGATACGAGAGCAGGAGGAGATGATGCAGGAACAGGAAGAGAA GATGGGGGAGCAGGAAGAGAAGATGCAAGAACAGGAGAAGATGCGGAGGC AGGAGGAGAAGATAAGGGAGCAGGAGGAGAAGATACGGGAGCAGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19003.hp1 NA19003.hp1	a0033 a0033	a0033c0045 a0033c0045	a0033c0045t0001 a0033c0045t0001	a0033c0045t0001g0001 a0033c0045t0001g0001	1	226	0.0044	-144	c.190 others(9): Show c.1901_2044del	p.Met others(13): Show p.Met634_Glu681del	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	1992/4401	1901/2565	634/854		INFO_REALIGN_3_PRIME	chr15	TogoVar
GPR132_chr14_105044395_105070430	105057308	TTAGGGAA others(137): Show TTAGGGAAATCAGATTGAGTCACAAGTTAACCCATTGACAAACGGCTAGT GAGTATTTACTAATTTACTAAGTGGCCCGTTGATTCGTAGGTGTTTTTTA AATGTTGAGAATCTGCCGTTGCATCCCACATGAGAAACACAAGCA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02922.hp2 HG01175.hp2 HG02922.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0001 a0007c0012t0023 a0001c0001t0001 a0007c0012t0023	a0001c0001t0001g0195 a0007c0012t0023g0194 a0001c0001t0001g0195 a0007c0012t0023g0194	2	406	0.0049	-144	c.-86 others(16): Show c.-860-172_-860-29del		GPR132	ENSG00000183484.12	transcript	ENST00000329797.8	protein_coding	1/3						chr14	TogoVar
GRAMD4_chr22_46615386_46684785	46621441	TGGAGGGC others(137): Show TGGAGGGCACCCCTACCCCGGTGCAGGCGCAGGCTGGAGGCGTAGCCCGG GCCCATCCCTGGCGGTGTGTCGCGGAGGGCACCCCTACCCCGGTGCAGGC GCAGGCTGGAGGCGTAGCCCGGGCCCATCCCTGGCGGTGTGTCGC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0180 a0001c0001t0038g0180	1	328	0.0031	-144	c.-50 others(16): Show c.-50+939_-50+1082del		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46621504	GGTGTGTC others(137): Show GGTGTGTCGCGGAGGGCACCCCTACCCCGGTGCAGGCGCAGGCTGGAGGC GTAGCCCGGGCCCATCCCTGGCGGTGTGTCGCGGAGGGCACCCCTACCCC GGTGCAGGCGCAGGCTGGAGGCGTAGCCCGGGCCCATCCCTGGCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG02015.hp1 others(11): Show HG00438.hp2 HG00621.hp2 HG02015.hp1 HG02083.hp2 HG02572.hp2 NA18946.hp2 NA18959.hp2 NA18967.hp1 NA18969.hp2 NA18998.hp1 NA19056.hp1 NA19059.hp1 NA19074.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0034 a0002c0011t0053	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0204 others(11): Show a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0002g0203 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0006g0198 a0001c0001t0006g0199 a0001c0001t0006g0200 a0001c0001t0006g0202 a0001c0001t0034g0201 a0002c0011t0053g0019	14	328	0.0427	-144	c.-50 others(16): Show c.-50+976_-50+1119del		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46621541	GCAGGCTG others(137): Show GCAGGCTGGAGGCGTAGCCCGGGCCCATCCCTGGCGGTGTGTCGCGGAGG GCACCCCTACCCCGGTGCAGGCGCAGGCTGGAGGCGTAGCCCGGGCCCAT CCCTGGCAGTGTGTCGCGGAGGGCACCCCTACCCCGGTGCAGGCA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0063	1	328	0.0031	-144	c.-50 others(17): Show c.-50+1002_-50+1145del		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRID1_chr10_85594552_86371795	85810015	AAGCTGCT others(137): Show AAGCTGCTGGGGTGTGGTGCCATCTTAAAACCAGAGCCACTACTGGAGTG TGCTCTGCCCTGGGGGCCAGTAGCAACTTTGGGCCTCCAACCATGGGATT CCACCATCTTTCCACCCACATGGGTGGCTGTAACACCATGACCCC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02280.hp1 others(5): Show HG01884.hp1 HG01884.hp2 HG02280.hp1 HG02897.hp1 HG03195.hp2 HG03579.hp1 HG04204.hp1 NA18747.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0005 others(2): Show a0001c0001 a0001c0002 a0002c0005 a0002c0007 a0003c0006	a0001c0001t0017 a0001c0002t0001 a0001c0002t0003 others(5): Show a0001c0001t0017 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0002c0005t0023 a0002c0005t0045 a0002c0007t0027 a0003c0006t0020	a0001c0001t0017g0001 a0001c0002t0001g0058 a0001c0002t0003g0071 others(5): Show a0001c0001t0017g0001 a0001c0002t0001g0058 a0001c0002t0003g0071 a0001c0002t0011g0077 a0002c0005t0023g0081 a0002c0005t0045g0062 a0002c0007t0027g0054 a0003c0006t0020g0026	8	96	0.0833	-144	c.123 others(21): Show c.1233+44337_1233+44480del		GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	8/15						chr10	TogoVar
HACE1_chr6_104723094_104864919	104727499	ATATGTAT others(137): Show ATATGTATATGAATACACACACACGTATGTATATGAATACACACACACGT ATGTATATGAATACACACACACGTATGTATATGAATACACACACACGTAT GTATATGAATACACACACACGTATGTATATGAATACATACACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00438.hp2 others(71): Show HG00099.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00735.hp2 HG01106.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01361.hp2 HG01891.hp1 HG01928.hp1 HG01952.hp2 HG01978.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp2 HG02683.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03654.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18954.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19057.hp1 NA19079.hp2 NA19082.hp2 NA19085.hp2 NA19088.hp2 NA19240.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0002g0003 others(71): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0004g0032 a0001c0001t0005g0073	74	346	0.2139	-144	c.20 others(11): Show c.2019_*2162del		HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding					594		chr6	TogoVar

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