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
AKR1C1_chr10_4958415_4988283	4982637	A A	ACACTTTT others(5): Show ACACTTTTAAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0004 a0001c0001t0080g0004	1	424	0.0024	12	c.49 others(23): Show c.4903_*4904insAGAGCACTTTTA	AKR1C1	ENSG00000187134.14	transcript	ENST00000380872.9	protein_coding	9/9	4904	INFO_REALIGN_3_PRIME	chr10	TogoVar
AKR1C4_chr10_5191837_5223949	5202939	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG02647.hp1 others(1): Show HG02280.hp2 HG02630.hp2 HG02647.hp1 HG03139.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0006 a0001c0001 a0003c0004 a0004c0006	a0001c0001t0001 a0003c0004t0001 a0004c0006t0001 a0001c0001t0001 a0003c0004t0001 a0004c0006t0001	a0001c0001t0001g0035 a0001c0001t0001g0172 a0003c0004t0001g0013 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0172 a0003c0004t0001g0013 a0004c0006t0001g0037	4	72	0.0556	12	c.253 others(29): Show c.253-1406_253-1395dupGTGTGTGTGTGT	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
AKR1C4_chr10_5191837_5223949	5221401	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	60	0.0167	12	c.26 others(23): Show c.2641_*2642insAAAAAAAAAAAA	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding		2453		chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5156525	G G	GATCTATC others(5): Show GATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp2 HG02258.hp1 others(15): Show HG01081.hp1 HG01099.hp2 HG02258.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG04199.hp2 HG04204.hp1	a0002 a0004 a0008 a0002 a0004 a0008	a0002c0003 a0004c0005 a0008c0012 a0002c0003 a0004c0005 a0008c0012	a0002c0003t0001 a0004c0005t0001 a0008c0012t0001 a0002c0003t0001 a0004c0005t0001 a0008c0012t0001	a0002c0003t0001g0222 a0002c0003t0001g0227 a0002c0003t0001g0232 others(9): Show a0002c0003t0001g0222 a0002c0003t0001g0227 a0002c0003t0001g0232 a0004c0005t0001g0006 a0004c0005t0001g0020 a0004c0005t0001g0089 a0004c0005t0001g0092 a0004c0005t0001g0094 a0004c0005t0001g0095 a0004c0005t0001g0096 a0004c0005t0001g0249 a0008c0012t0001g0090	18	338	0.0533	12	c.856 others(27): Show c.856-780_856-769dupAGATAGATAGAT	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	7/8			chr10	TogoVar
AKR1D1_chr7_138071459_138123305	138100088	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03579.hp1 NA18612.hp1 others(6): Show HG00621.hp1 HG03579.hp1 NA18612.hp1 NA18943.hp2 NA18982.hp2 NA18985.hp2 NA18998.hp2 NA19082.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012	a0001c0001t0001g0158 a0001c0001t0003g0058 a0001c0001t0003g0062 others(5): Show a0001c0001t0001g0158 a0001c0001t0003g0058 a0001c0001t0003g0062 a0001c0001t0008g0025 a0001c0001t0008g0071 a0001c0001t0008g0090 a0001c0001t0008g0103 a0001c0001t0012g0064	9	25	0.3600	12	c.456 others(29): Show c.456+2164_456+2175dupAAAAAAAAAAAA	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKR1D1_chr7_138071459_138123305	138101149	T T	TTCTTTCC others(5): Show TTCTTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0304 a0001c0001t0020g0304	1	336	0.0030	12	c.456 others(29): Show c.456+3208_456+3209insTTTCCCTCCCTC	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKT1_chr14_104764349_104800748	104772749	G G	GCCAAGGA others(5): Show GCCAAGGACATCA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	384	0.0026	12	c.117 others(29): Show c.1172+117_1172+128dupTGATGTCCTTGG	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	12/14			chr14	TogoVar
AKT2_chr19_40225317_40290345	40244056	A A	AAATAATA others(5): Show AAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0231 a0001c0001t0006g0231	1	32	0.0313	12	c.288 others(29): Show c.288-1381_288-1370dupATTATTATTATT	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding	4/13			chr19	TogoVar
AKT2_chr19_40225317_40290345	40257586	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0250 a0001c0001t0007g0250	1	32	0.0313	12	c.47- others(25): Show c.47-544_47-533dupGTGTGTGTGTGT	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding	2/13			chr19	TogoVar
AKT2_chr19_40225317_40290345	40290248	A A	AAAATAAA others(5): Show AAAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG00741.hp1 others(20): Show HG00544.hp2 HG00621.hp2 HG00741.hp1 HG01123.hp1 HG02083.hp2 HG02109.hp1 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02630.hp2 HG02717.hp2 HG02895.hp1 HG03130.hp1 HG03453.hp2 HG03471.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18947.hp1 NA18985.hp2 NA19000.hp2 NA19030.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0036 a0001c0001t0001 a0001c0001t0017 a0001c0001t0036	a0001c0001t0001g0012 a0001c0001t0001g0125 a0001c0001t0001g0128 others(20): Show a0001c0001t0001g0012 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0017g0135 a0001c0001t0036g0123	23	34	0.6765	12	c.-51 others(23): Show c.-5153_-5152insATTTATTTATTT	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		4904		chr19	TogoVar
AKT3_chr1_243494724_243855243	243523260	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19030.hp2 HG02129.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0001 a0001c0001t0032	a0001c0001t0001g0129 a0001c0001t0032g0049 a0001c0001t0001g0129 a0001c0001t0032g0049	2	64	0.0313	12	c.125 others(33): Show c.1252-10846_1252-10835dupGTGTGTGTGTGT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525768	T T	TAAGAAAG others(5): Show TAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01433.hp2 HG01952.hp1 others(17): Show HG00544.hp2 HG01433.hp2 HG01952.hp1 HG02015.hp2 HG02040.hp2 HG03017.hp1 HG03209.hp1 HG03831.hp1 NA18941.hp2 NA18950.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18977.hp1 NA18984.hp2 NA19002.hp1 NA19065.hp2 NA19077.hp2 NA19080.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012	a0001c0001t0001g0109 a0001c0001t0001g0178 a0001c0001t0002g0066 others(17): Show a0001c0001t0001g0109 a0001c0001t0001g0178 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0155 a0001c0001t0002g0170 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0194 a0001c0001t0006g0161 a0001c0001t0006g0167 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0177 a0001c0001t0006g0183 a0001c0001t0007g0059 a0001c0001t0010g0080 a0001c0001t0012g0012	20	115	0.1739	12	c.125 others(33): Show c.1252-13354_1252-13343dupTCTTTCTTTCTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243552288	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0286 a0001c0001t0020g0286	1	8	0.1250	12	c.116 others(29): Show c.1163+429_1163+440dupTTTTTTTTTTTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	11/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243583195	T T	TATATATA others(5): Show TATATATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0005 a0001c0001t0023g0005	1	202	0.0050	12	c.697 others(31): Show c.697-10148_697-10147insGTATATATATAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	8/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243609334	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	14	0.0714	12	c.696 others(29): Show c.696+4325_696+4336dupCACACACACACA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	8/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243616307	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0152 a0001c0001t0030g0152	1	21	0.0476	12	c.562 others(29): Show c.562-1158_562-1147dupTTTTTTTTTTTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	6/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686630	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02723.hp2 HG03017.hp1 HG00673.hp1 HG02723.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0213 a0001c0001t0002g0074 a0001c0001t0003g0205 a0001c0001t0001g0213 a0001c0001t0002g0074 a0001c0001t0003g0205	3	222	0.0135	12	c.172 others(29): Show c.172+8949_172+8960dupATATATATATAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243693242	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01934.hp2 HG02165.hp1 others(3): Show HG01175.hp1 HG01934.hp2 HG02165.hp1 HG03453.hp2 HG03490.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0208 others(3): Show a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0208 a0001c0001t0001g0251 a0001c0001t0001g0274 a0001c0001t0014g0025	6	112	0.0536	12	c.172 others(29): Show c.172+2348_172+2349insTATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243693243	G G	GATATATA others(5): Show GATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18982.hp2 HG00673.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0041 a0001c0001t0004g0015 a0001c0001t0002g0041 a0001c0001t0004g0015	2	136	0.0147	12	c.172 others(29): Show c.172+2336_172+2347dupATATATATATAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243699465	C C	CCATATAT others(5): Show CCATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	19	0.0526	12	c.47- others(27): Show c.47-3750_47-3749insTATATATATATG	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243699465	C C	CTATATAT others(5): Show CTATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01255.hp1 HG02083.hp1 others(13): Show HG00140.hp2 HG01255.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02300.hp1 HG03540.hp1 HG03540.hp2 NA18941.hp2 NA18950.hp1 NA18955.hp2 NA18977.hp1 NA19002.hp1 NA19064.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0023 a0001c0001t0048	a0001c0001t0001g0097 a0001c0001t0001g0129 a0001c0001t0001g0131 others(13): Show a0001c0001t0001g0097 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0154 a0001c0001t0002g0030 a0001c0001t0002g0081 a0001c0001t0002g0158 a0001c0001t0005g0285 a0001c0001t0006g0161 a0001c0001t0006g0167 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0023g0005 a0001c0001t0048g0067	16	34	0.4706	12	c.47- others(27): Show c.47-3761_47-3750dupTATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243815776	A A	AGTTGTTG others(5): Show AGTTGTTGTTGTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0151 a0001c0001t0029g0151	1	100	0.0100	12	c.46+ others(29): Show c.46+27337_46+27348dupAACAACAACAAC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
ALAD_chr9_113381312_113406284	113381760	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02886.hp2 HG02723.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0001 a0001c0001t0002 a0001c0007t0001	a0001c0001t0002g0098 a0001c0007t0001g0045 a0001c0001t0002g0098 a0001c0007t0001g0045	2	143	0.0140	12	c.65 others(23): Show c.6539_*6540insAAAAAAAAAAAA	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding		4551		chr9	TogoVar
ALAD_chr9_113381312_113406284	113383517	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	436	0.0023	12	c.47 others(23): Show c.4782_*4783insGAAAGAAAGAAA	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding		2794		chr9	TogoVar
ALAS1_chr3_52193160_52219327	52193983	A A	AAAAGAAA others(5): Show AAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	83	0.0120	12	c.-44 others(23): Show c.-4482_-4481insAAAGAAAGAAAG	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding		4176		chr3	TogoVar
ALAS2_chrX_55004055_55035977	55015959	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	84	0.0119	12	c.100 others(29): Show c.1004-229_1004-218dupCACACACACACA	ALAS2	ENSG00000158578.21	transcript	ENST00000650242.1	protein_coding	7/10			chrX	TogoVar
ALCAM_chr3_105361909_105581900	105368223	A A	AAGAGAGA others(5): Show AAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00735.hp2 HG01099.hp1 others(10): Show HG00408.hp2 HG00735.hp2 HG01099.hp1 HG01993.hp2 HG02071.hp1 HG03239.hp2 HG03486.hp2 HG03688.hp1 NA18612.hp2 NA18948.hp1 NA18984.hp2 NA18988.hp1 NA19090.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0004c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0002t0001 a0001c0002t0003 a0002c0004t0002 a0004c0007t0001	a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 others(10): Show a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0016g0200 a0001c0002t0001g0199 a0001c0002t0003g0371 a0002c0004t0002g0023 a0002c0004t0002g0193 a0002c0004t0002g0194 a0002c0004t0002g0197 a0004c0007t0001g0198	13	53	0.2453	12	c.73+ others(25): Show c.73+772_73+783dupGAGAGAGAGAGA	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105454653	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0017 a0001c0002t0003g0017	1	42	0.0238	12	c.74- others(29): Show c.74-65391_74-65380dupTTTTTTTTTTTT	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105470132	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp1 HG02738.hp1 others(20): Show HG01109.hp2 HG01175.hp1 HG02738.hp1 HG03831.hp1 NA18612.hp2 NA18747.hp1 NA18943.hp1 NA18944.hp2 NA18950.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp2 NA18975.hp1 NA18984.hp2 NA18987.hp1 NA18988.hp1 NA18991.hp1 NA18995.hp2 NA19002.hp2 NA19006.hp1 NA19068.hp2 NA19080.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0048 a0001c0001t0001g0332 a0001c0001t0001g0333 others(20): Show a0001c0001t0001g0048 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0357 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0005g0119	23	215	0.1070	12	c.74- others(29): Show c.74-49915_74-49904dupCACACACACACA	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105486957	C C	CATTTATT others(5): Show CATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp2 HG02055.hp1 others(6): Show HG01109.hp2 HG01496.hp2 HG02055.hp1 HG02738.hp1 HG03098.hp1 HG03239.hp1 HG04204.hp1 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0012t0006	a0001c0001t0001g0021 a0001c0001t0001g0152 a0001c0001t0001g0359 others(6): Show a0001c0001t0001g0021 a0001c0001t0001g0152 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0362 a0001c0001t0001g0364 a0001c0002t0001g0082 a0001c0003t0002g0075 a0001c0012t0006g0326	9	150	0.0600	12	c.74- others(29): Show c.74-33096_74-33085dupTTTATTTATTTA	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105523139	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0148 a0001c0001t0005g0148	1	7	0.1429	12	c.175 others(29): Show c.175-1134_175-1123dupAAAAAAAAAAAA	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105563667	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01361.hp1 HG02027.hp2 others(16): Show HG00735.hp1 HG01361.hp1 HG02027.hp2 HG02148.hp1 HG02896.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 NA18612.hp1 NA18944.hp1 NA18950.hp1 NA18967.hp2 NA18979.hp1 NA18990.hp2 NA18991.hp2 NA19007.hp2 NA19085.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008	a0001c0001t0004g0024 a0001c0001t0004g0135 a0001c0001t0004g0171 others(16): Show a0001c0001t0004g0024 a0001c0001t0004g0135 a0001c0001t0004g0171 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0005g0297 a0001c0002t0001g0056 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0093 a0001c0002t0003g0123 a0001c0002t0003g0132 a0001c0002t0003g0216 a0001c0002t0003g0228 a0001c0002t0003g0259 a0001c0002t0003g0370 a0001c0002t0003g0371 a0001c0002t0008g0285	19	23	0.8261	12	c.166 others(31): Show c.1665-8165_1665-8154dupTTTTTTTTTTTT	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105563680	T T	TTTTTTTT others(5): Show TTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0339 a0001c0002t0003g0339	1	373	0.0027	12	c.166 others(31): Show c.1665-8161_1665-8160insCTTTTTTTTTTT	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALDH18A1_chr10_95600941_95661711	95609769	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG00733.hp2 others(13): Show HG00099.hp1 HG00733.hp1 HG00733.hp2 HG01109.hp1 HG01258.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02615.hp2 HG02965.hp1 HG02970.hp2 HG03225.hp1 HG04228.hp1 NA18942.hp2 NA18951.hp2 NA19063.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0001 a0007c0011t0001 a0001c0001t0001 a0007c0011t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0066 others(11): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0241 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0007c0011t0001g0116	16	77	0.2078	12	c.220 others(29): Show c.2206+416_2206+427dupAAAAAAAAAAAA	ALDH18A1	ENSG00000059573.9	transcript	ENST00000371224.7	protein_coding	17/17			chr10	TogoVar
ALDH18A1_chr10_95600941_95661711	95655681	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG02559.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0235 a0001c0001t0001g0236	2	80	0.0250	12	c.-29 others(27): Show c.-29+904_-29+915dupACACACACACAC	ALDH18A1	ENSG00000059573.9	transcript	ENST00000371224.7	protein_coding	1/17			chr10	TogoVar
ALDH1A1_chr9_72895671_72958053	72908504	G G	GATGAAAG others(5): Show GATGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02922.hp1 others(2): Show HG01891.hp2 HG02109.hp1 HG02922.hp1 HG03195.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0001t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0031 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0005g0280 a0001c0002t0001g0238	5	299	0.0167	12	c.135 others(31): Show c.1358+1097_1358+1098insTCTTTCTTTCAT	ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	11/12			chr9	TogoVar
ALDH1A1_chr9_72895671_72958053	72908552	G G	GAAGAAAG others(5): Show GAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0210	1	237	0.0042	12	c.135 others(31): Show c.1358+1038_1358+1049dupTCTTTCTTTCTT	ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	11/12			chr9	TogoVar
ALDH1A2_chr15_57948429_58070711	57958214	G G	GCACACAC others(5): Show GCACACACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01358.hp1 HG02486.hp1 others(2): Show HG01243.hp2 HG01358.hp1 HG02486.hp1 HG03098.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0009 a0002c0004t0003 a0002c0002t0009 a0002c0004t0003	a0002c0002t0009g0169 a0002c0002t0009g0170 a0002c0002t0009g0171 others(2): Show a0002c0002t0009g0169 a0002c0002t0009g0170 a0002c0002t0009g0171 a0002c0004t0003g0147 a0002c0004t0003g0148	5	171	0.0292	12	c.148 others(31): Show c.1484+2544_1484+2555dupTGTGTGTGTGTG	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	12/12			chr15	TogoVar
ALDH1A2_chr15_57948429_58070711	57958214	G G	GCGCACAC others(5): Show GCGCACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18980.hp1 HG02145.hp2 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0026 a0002c0002t0010 a0002c0002t0026	a0002c0002t0010g0108 a0002c0002t0026g0099 a0002c0002t0010g0108 a0002c0002t0026g0099	2	168	0.0119	12	c.148 others(31): Show c.1484+2555_1484+2556insTGTGTGTGTGCG	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	12/12			chr15	TogoVar
ALDH1A2_chr15_57948429_58070711	57981289	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19003.hp1 NA19066.hp1 NA18942.hp1 NA19003.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0100 a0002c0002t0002g0111 a0002c0002t0002g0116 a0002c0002t0002g0100 a0002c0002t0002g0111 a0002c0002t0002g0116	3	128	0.0234	12	c.798 others(31): Show c.798+11404_798+11415dupGTGTGTGTGTGT	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	7/12			chr15	TogoVar
ALDH1A2_chr15_57948429_58070711	58004693	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp1 HG02451.hp2 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0006 a0002c0002t0002 a0002c0002t0006	a0002c0002t0002g0145 a0002c0002t0006g0118 a0002c0002t0002g0145 a0002c0002t0006g0118	2	104	0.0192	12	c.493 others(29): Show c.493+5955_493+5956insCACACACACACA	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	4/12			chr15	TogoVar
ALDH1A2_chr15_57948429_58070711	58023658	G G	GAAAAAAA others(5): Show GAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02970.hp2 HG03209.hp2 others(1): Show HG02056.hp1 HG02970.hp2 HG03209.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0139 a0001c0001t0001g0291 a0002c0002t0003g0040 others(1): Show a0001c0001t0001g0139 a0001c0001t0001g0291 a0002c0002t0003g0040 a0002c0002t0003g0313	4	164	0.0244	12	c.118 others(29): Show c.118-9389_118-9378dupTTTTTTTTTTTT	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	1/12			chr15	TogoVar
ALDH1A2_chr15_57948429_58070711	58023658	G G	GGAAAAAA others(5): Show GGAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0048 a0002c0003t0003g0048	1	161	0.0062	12	c.118 others(29): Show c.118-9378_118-9377insTTTTTTTTTTTC	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	1/12			chr15	TogoVar
ALDH1L1_chr3_126098570_126185586	126179498	T T	TCAAACAA others(5): Show TCAAACAAACAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0010 a0010	a0010c0037 a0010c0037	a0010c0037t0001 a0010c0037t0001	a0010c0037t0001g0123 a0010c0037t0001g0123	1	217	0.0046	12	c.-24 others(27): Show c.-24+966_-24+977dupTTTGTTTGTTTG	ALDH1L1	ENSG00000144908.14	transcript	ENST00000393434.7	protein_coding	1/22			chr3	TogoVar
ALDH1L2_chr12_105014790_105089458	105036514	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	242	0.0041	12	c.214 others(31): Show c.2145+1577_2145+1588dupTATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046149	T T	TTCTCTCT others(5): Show TTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02300.hp2 NA18999.hp2 others(1): Show HG00621.hp1 HG02300.hp2 NA18999.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0037 a0001c0001t0003g0140 a0001c0001t0003g0189 others(1): Show a0001c0001t0003g0037 a0001c0001t0003g0140 a0001c0001t0003g0189 a0001c0001t0013g0142	4	304	0.0132	12	c.186 others(29): Show c.1863+549_1863+560dupGAGAGAGAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046193	C C	CTCTCTCT others(5): Show CTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0063 a0001c0001t0008g0066 a0001c0001t0008g0063 a0001c0001t0008g0066	2	282	0.0071	12	c.186 others(29): Show c.1863+516_1863+517insTATAGAGAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105064114	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	10	0.1000	12	c.787 others(29): Show c.787-1104_787-1093dupAAAAAAAAAAAA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	6/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(5): Show ATATATATATATT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18998.hp2 NA18961.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0113 a0001c0002t0002g0194 a0001c0001t0002g0113 a0001c0002t0002g0194	2	184	0.0109	12	c.194 others(27): Show c.194-839_194-838insAATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(5): Show ATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	183	0.0055	12	c.194 others(27): Show c.194-839_194-838insAAAATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar

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