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
ACTN2_chr1_236681499_236769631	236721015	G G	GGTTTTTT others(27): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02738.hp1 HG02738.hp2 HG00639.hp1 HG02738.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0252 a0001c0001t0001g0328 a0001c0001t0003g0277 a0001c0001t0001g0252 a0001c0001t0001g0328 a0001c0001t0003g0277	3	134	0.0224	34	c.448 others(49): Show c.448+824_448+825insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	4/20						chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01496.hp1 others(6): Show HG00438.hp1 HG00741.hp2 HG01496.hp1 HG02486.hp2 NA18944.hp1 NA18964.hp2 NA18998.hp2 NA19066.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0006t0002 a0001c0006t0008	a0001c0001t0001g0217 a0001c0001t0001g0257 a0001c0001t0001g0309 others(6): Show a0001c0001t0001g0217 a0001c0001t0001g0257 a0001c0001t0001g0309 a0001c0001t0001g0337 a0001c0001t0003g0325 a0001c0002t0002g0255 a0001c0002t0002g0318 a0001c0006t0002g0169 a0001c0006t0008g0129	9	203	0.0443	34	c.876 others(47): Show c.876+83_876+84insTATATATATATATATATATATATATATATATA TA		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20						chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATGTAT others(27): Show GTATGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18967.hp2 NA18984.hp1 others(1): Show HG00609.hp1 NA18967.hp2 NA18984.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0003g0145 others(1): Show a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0003g0145 a0001c0001t0003g0153	4	198	0.0202	34	c.876 others(47): Show c.876+83_876+84insTATGTATATATATATATATATATATATATATA TA		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20						chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737315	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03453.hp2 HG02886.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0005 a0001c0001t0004 a0001c0004t0005	a0001c0001t0004g0060 a0001c0004t0005g0062 a0001c0001t0004g0060 a0001c0004t0005g0062	2	334	0.0060	34	c.876 others(49): Show c.876+104_876+105insATATATATATATATATATATATATATATAT GTAT		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN4_chr19_38642649_38736589	38735962	G G	GGGGGCGG others(27): Show GGGGGCGGGCAGGGCGGGGCGGGGGTTCTGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0104 a0001c0001t0009g0104	1	196	0.0051	34	c.65 others(45): Show c.6530_*6531insGGGGCGGGCAGGGCGGGGCGGGGGTTCTGGGGGC		ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding					4374		chr19	TogoVar
ACTR3B_chr7_152754752_152860378	152785470	G G	GGGAGAGG others(27): Show GGGAGAGGGGGGAGGGGGAGGGGGAGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	306	0.0033	34	c.100 others(51): Show c.100+2229_100+2230insGAGAGGGGGGAGGGGGAGGGGGAGGGAG AGAGAG		ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ACVR1_chr2_157731446_157881330	157845590	T T	TGTGGTAA others(27): Show TGTGGTAATTTCTTATGGCAGCCCTAGGAAGCTAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02895.hp2 HG02897.hp2 others(1): Show HG00735.hp2 HG02895.hp2 HG02897.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0049 a0001c0001t0002g0070 a0001c0002t0001g0149 others(1): Show a0001c0001t0002g0049 a0001c0001t0002g0070 a0001c0002t0001g0149 a0001c0002t0001g0150	4	172	0.0233	34	c.-18 others(55): Show c.-182-27065_-182-27032dupTTAGCTTCCTAGGGCTGCCATAAG AAATTACCAC		ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10						chr2	TogoVar
ACY3_chr11_67637555_67655730	67644840	C C	CTTCCATC others(27): Show CTTCCATCTCAAAGGCAGGAAAGGCCGTACCTGTG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02083.hp1 HG02083.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0012 a0004c0010t0012	a0004c0010t0012g0082 a0004c0010t0012g0082	1	394	0.0025	34	c.635 others(43): Show c.635-5_663dupCACAGGTACGGCCTTTCCTGCCTTTGAGATGGAA	p.Ala others(5): Show p.Ala222fs	ACY3	ENSG00000132744.8	transcript	ENST00000255082.8	protein_coding	7/8	905/1371	663/960	221/319			chr11	TogoVar
ACYP2_chr2_53966113_54310300	54201582	T T	TTTTCTTT others(27): Show TTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	269	0.0037	34	c.404 others(53): Show c.404+62842_404+62875dupCTTTCTCTTTCTTTCTTTCTTTCTTT CTTTCTTT		ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201632	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	254	0.0039	34	c.404 others(53): Show c.404+62889_404+62890insTTCTTTCTTTTTCTTTCTTTCTTTCT TTGTTTCT		ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17184983	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01934.hp2 HG02280.hp2 others(4): Show HG01516.hp2 HG01934.hp2 HG02280.hp2 HG02572.hp2 HG03516.hp2 HG06807.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0003 a0001c0004t0002 a0001c0004t0004 others(2): Show a0001c0001t0003 a0001c0004t0002 a0001c0004t0004 a0001c0005t0047 a0001c0006t0002	a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0004t0002g0058 others(4): Show a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0004t0002g0058 a0001c0004t0002g0092 a0001c0004t0004g0350 a0001c0005t0047g0347 a0001c0006t0002g0234	7	207	0.0338	34	c.108 others(53): Show c.1082-2223_1082-2222insATATATATATATATATATATATATAT ATATATAT		ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9						chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0341 a0001c0002t0050g0341	1	299	0.0033	34	c.973 others(49): Show c.973-422_973-421insATATATATATATATATATATATTTTTTTTT TTTT		ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9						chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0328 a0001c0001t0041g0328	1	299	0.0033	34	c.973 others(49): Show c.973-422_973-421insATATATATATATATATATATATATATTTTT TTTT		ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9						chr22	TogoVar
ADAM12_chr10_126007391_126393477	126121113	A A	ATATATAG others(27): Show ATATATAGTATATATAGTATATATAGTATATATAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18946.hp1 NA18959.hp1 others(5): Show HG02970.hp2 NA18946.hp1 NA18959.hp1 NA18962.hp1 NA18970.hp1 NA18998.hp1 NA19043.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0002c0005 others(1): Show a0001c0003 a0002c0001 a0002c0005 a0002c0015	a0001c0003t0003 a0001c0003t0005 a0001c0003t0038 others(5): Show a0001c0003t0003 a0001c0003t0005 a0001c0003t0038 a0002c0001t0001 a0002c0001t0007 a0002c0001t0009 a0002c0005t0005 a0002c0015t0002	a0001c0003t0003g0221 a0001c0003t0005g0227 a0001c0003t0038g0087 others(5): Show a0001c0003t0003g0221 a0001c0003t0005g0227 a0001c0003t0038g0087 a0002c0001t0001g0036 a0002c0001t0007g0045 a0002c0001t0009g0024 a0002c0005t0005g0168 a0002c0015t0002g0125	8	138	0.0580	34	c.417 others(51): Show c.417-2890_417-2889insCTATATATACTATATATACTATATATAC TATATA		ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	5/22						chr10	TogoVar
ADAM17_chr2_9483486_9560830	9489259	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0039 a0002c0003t0039	a0002c0003t0039g0054 a0002c0003t0039g0054	1	69	0.0145	34	c.91 others(43): Show c.917_*918insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	19/19				917		chr2	TogoVar
ADAM17_chr2_9483486_9560830	9520964	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	94	0.0106	34	c.957 others(49): Show c.957+238_957+239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	8/18						chr2	TogoVar
ADAM22_chr7_87929251_88207889	87966721	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG02257.hp2 others(3): Show HG00639.hp1 HG00738.hp2 HG02257.hp2 HG02258.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0060 a0001c0001t0001g0117 a0001c0001t0001g0150 others(3): Show a0001c0001t0001g0060 a0001c0001t0001g0117 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0003g0114	6	53	0.1132	34	c.247 others(53): Show c.247-11584_247-11583insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	2/31					INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0170 a0001c0001t0010g0170	1	77	0.0130	34	c.324 others(53): Show c.324-36161_324-36160insAAAAAAAAAATATATATATATATATA TATATATA		ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31					INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM9_chr8_38991973_39110261	39045078	G G	GTATATAT others(27): Show GTATATATGTGTATACATACATATATGTGTATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02451.hp2 others(15): Show HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02622.hp1 HG02630.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03486.hp1 HG03540.hp1 HG03710.hp1 HG04228.hp1 NA19001.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(15): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0212 a0001c0001t0001g0309	18	309	0.0583	34	c.130 others(53): Show c.1302+2962_1302+2963insATATATGTGTATACATACATATATGT GTATATAT		ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21					INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM9_chr8_38991973_39110261	39045120	G G	GTGTATAT others(27): Show GTGTATATGTGTGCATACATACATATATGTGTATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18945.hp2 NA18965.hp1 others(1): Show HG00621.hp2 NA18945.hp2 NA18965.hp1 NA19066.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0178 others(1): Show a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0178 a0006c0009t0001g0163	4	255	0.0157	34	c.130 others(53): Show c.1302+3006_1302+3007insATATGTGTGCATACATACATATATGT GTATATGT		ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21					INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM9_chr8_38991973_39110261	39045122	G G	GTATATAT others(27): Show GTATATATGTGTATACATACATATATGTGTATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18990.hp2 NA18522.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0182 a0001c0001t0001g0157 a0001c0001t0001g0182	2	243	0.0082	34	c.130 others(53): Show c.1302+3006_1302+3007insATATATGTGTATACATACATATATGT GTATATAT		ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21					INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM9_chr8_38991973_39110261	39045163	C C	CATATGTG others(27): Show CATATGTGTATATATGTGTATACATACATATGTGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	314	0.0032	34	c.130 others(53): Show c.1302+3050_1302+3051insGTGTATATATGTGTATACATACATAT GTGTATAT		ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21					INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS13_chr9_133417367_133464386	133460459	A A	AGGGCGGG others(27): Show AGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00639.hp2 HG01070.hp2 others(5): Show HG00609.hp2 HG00639.hp2 HG01070.hp2 HG01081.hp1 HG01258.hp1 HG02004.hp2 HG04204.hp1 NA18992.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0002 a0001c0011 a0002c0002	a0001c0011t0001 a0002c0002t0001 a0001c0011t0001 a0002c0002t0001	a0001c0011t0001g0156 a0002c0002t0001g0007 a0002c0002t0001g0039 others(4): Show a0001c0011t0001g0156 a0002c0002t0001g0007 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0106	8	302	0.0265	34	c.12 others(45): Show c.1279_*1280insGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGG		ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding					1074		chr9	TogoVar
ADAMTS14_chr10_70667506_70767441	70759132	T T	TTTTTTTT others(27): Show TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02055.hp1 HG02559.hp1 others(5): Show HG01081.hp1 HG02055.hp1 HG02559.hp1 HG02896.hp1 HG03130.hp2 HG03195.hp2 HG03654.hp2 HG04199.hp2	a0001 a0012 a0001 a0012	a0001c0005 a0001c0025 a0001c0055 others(1): Show a0001c0005 a0001c0025 a0001c0055 a0012c0049	a0001c0005t0010 a0001c0005t0026 a0001c0025t0010 others(2): Show a0001c0005t0010 a0001c0005t0026 a0001c0025t0010 a0001c0055t0010 a0012c0049t0010	a0001c0005t0010g0001 a0001c0005t0010g0108 a0001c0005t0026g0019 others(4): Show a0001c0005t0010g0001 a0001c0005t0010g0108 a0001c0005t0026g0019 a0001c0025t0010g0158 a0001c0025t0010g0275 a0001c0055t0010g0238 a0012c0049t0010g0256	8	171	0.0468	34	c.317 others(51): Show c.3178+848_3178+849insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCT		ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	21/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS15_chr11_130443645_130481645	130470154	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATGTGTATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0001 a0003c0005t0001g0001	1	276	0.0036	34	c.172 others(51): Show c.1721-735_1721-734insATATATATATATATATATATATATATAT ATGTGT		ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130470160	A A	ATATATAT others(27): Show ATATATATATACGTGTATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	386	0.0026	34	c.172 others(51): Show c.1720+731_1720+732insCGTGTATATATATATATATATGTGTATA TATATA		ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130470184	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATGTGTA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0162 a0001c0002t0029g0162	1	268	0.0037	34	c.172 others(51): Show c.1721-735_1721-734insATATATATATATATATATATATATATAT GTGTAT		ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS17_chr15_99966437_100346975	100119043	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0197 a0004c0003t0001g0197	1	148	0.0068	34	c.172 others(53): Show c.1722-2031_1722-2030insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	12/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100225448	C C	CCTCTGTG others(27): Show CCTCTGTGCCATTCAGTCCTTACAGCAGTCACGGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0001 a0003c0019t0001	a0003c0019t0001g0152 a0003c0019t0001g0152	1	226	0.0044	34	c.107 others(55): Show c.1076-26026_1076-26025insACCGTGACTGCTGTAAGGACTGAA TGGCACAGAG		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	7/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100255617	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03516.hp1 NA18983.hp2 HG01243.hp1 HG03516.hp1 NA18983.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0033 a0002c0001 a0006c0016 a0001c0033 a0002c0001 a0006c0016	a0001c0033t0015 a0002c0001t0002 a0006c0016t0024 a0001c0033t0015 a0002c0001t0002 a0006c0016t0024	a0001c0033t0015g0178 a0002c0001t0002g0058 a0006c0016t0024g0200 a0001c0033t0015g0178 a0002c0001t0002g0058 a0006c0016t0024g0200	3	41	0.0732	34	c.103 others(53): Show c.1032-1439_1032-1438insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	6/21						chr15	TogoVar
ADAMTS18_chr16_77277128_77440034	77314753	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01891.hp2 HG02083.hp2 others(5): Show HG01496.hp1 HG01891.hp2 HG02083.hp2 HG02735.hp2 HG04199.hp2 NA18906.hp2 NA19043.hp1 NA20905.hp2	a0001 a0003 a0007 others(3): Show a0001 a0003 a0007 a0011 a0012 a0014	a0001c0001 a0003c0002 a0007c0021 others(3): Show a0001c0001 a0003c0002 a0007c0021 a0011c0011 a0012c0012 a0014c0015	a0001c0001t0002 a0003c0002t0023 a0007c0021t0002 others(3): Show a0001c0001t0002 a0003c0002t0023 a0007c0021t0002 a0011c0011t0005 a0012c0012t0006 a0014c0015t0014	a0001c0001t0002g0096 a0001c0001t0002g0194 a0001c0001t0002g0232 others(5): Show a0001c0001t0002g0096 a0001c0001t0002g0194 a0001c0001t0002g0232 a0003c0002t0023g0271 a0007c0021t0002g0131 a0011c0011t0005g0308 a0012c0012t0006g0154 a0014c0015t0014g0291	8	63	0.1270	34	c.253 others(53): Show c.2532+5095_2532+5096insATATATATATATATATATATATATAT ATATATAT		ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	16/22						chr16	TogoVar
ADAMTS18_chr16_77277128_77440034	77314753	C C	CTTATATA others(27): Show CTTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03516.hp1 NA18986.hp1 HG00544.hp2 HG03516.hp1 NA18986.hp1	a0002 a0004 a0025 a0002 a0004 a0025	a0002c0007 a0004c0003 a0025c0048 a0002c0007 a0004c0003 a0025c0048	a0002c0007t0003 a0004c0003t0033 a0025c0048t0002 a0002c0007t0003 a0004c0003t0033 a0025c0048t0002	a0002c0007t0003g0268 a0004c0003t0033g0088 a0025c0048t0002g0077 a0002c0007t0003g0268 a0004c0003t0033g0088 a0025c0048t0002g0077	3	58	0.0517	34	c.253 others(53): Show c.2532+5095_2532+5096insATATATATATATATATATATATATAT ATATATAA		ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	16/22						chr16	TogoVar
ADAMTS19_chr5_129455298_129743683	129658351	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	199	0.0050	34	c.230 others(51): Show c.2305-255_2305-254insGAGAGAGAGAGAGAGAGAGAGAGAGAAA GAAAGA		ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	14/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0076 a0004c0007t0001g0076	1	44	0.0227	34	c.161 others(53): Show c.1614+1906_1614+1907insAAAAAATATATATATATATATATATA TATATATA		ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38						chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA19088.hp1 HG03669.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0060 a0001c0001t0001g0041 a0001c0001t0001g0060	2	45	0.0444	34	c.161 others(53): Show c.1614+1906_1614+1907insAAAAAAAAAATATATATATATATATA TATATATA		ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38						chr12	TogoVar
ADAMTS2_chr5_179105853_179350461	179227122	C C	CATATGTG others(27): Show CATATGTGTATATATATATACTTGTGTGTACACAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03490.hp2 HG03654.hp2 HG03017.hp1 HG03490.hp2 HG03654.hp2	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0007 a0004c0013 a0005c0062 a0003c0007 a0004c0013 a0005c0062	a0003c0007t0002 a0004c0013t0003 a0005c0062t0003 a0003c0007t0002 a0004c0013t0003 a0005c0062t0003	a0003c0007t0002g0032 a0004c0013t0003g0084 a0005c0062t0003g0101 a0003c0007t0002g0032 a0004c0013t0003g0084 a0005c0062t0003g0101	3	53	0.0566	34	c.689 others(53): Show c.689-19408_689-19407insATGTGTACACACAAGTATATATATAT ACACATAT		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21						chr5	TogoVar
ADAMTS4_chr1_161179302_161204054	161188883	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 HG02071.hp1 HG02165.hp1 others(7): Show HG00558.hp1 HG02071.hp1 HG02165.hp1 HG02886.hp1 NA18612.hp2 NA18957.hp2 NA18980.hp2 NA18995.hp1 NA18997.hp1 NA20129.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0003c0004 a0004c0005	a0001c0001t0040 a0001c0001t0041 a0001c0001t0109 others(6): Show a0001c0001t0040 a0001c0001t0041 a0001c0001t0109 a0001c0002t0171 a0001c0002t0178 a0001c0006t0041 a0001c0006t0094 a0003c0004t0066 a0004c0005t0096	a0001c0001t0040g0025 a0001c0001t0041g0076 a0001c0001t0109g0077 others(6): Show a0001c0001t0040g0025 a0001c0001t0041g0076 a0001c0001t0109g0077 a0001c0002t0171g0204 a0001c0002t0178g0180 a0001c0006t0041g0132 a0001c0006t0094g0065 a0003c0004t0066g0212 a0004c0005t0096g0055	10	72	0.1389	34	c.22 others(45): Show c.2254_*2255insATATATATATATATATATATATATATATATATAT		ADAMTS4	ENSG00000158859.10	transcript	ENST00000367996.6	protein_coding	9/9				2254		chr1	TogoVar
ADAMTS9_chr3_64510654_64693000	64663453	A A	AAGGGGAA others(27): Show AAGGGGAAAAACAAATGTACTATCAGAATCATCAG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0004 a0006c0011t0004	a0006c0011t0004g0086 a0006c0011t0004g0086	1	284	0.0035	34	c.680 others(51): Show c.680-4696_680-4663dupCTGATGATTCTGATAGTACATTTGTTTT TCCCCT		ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	3/39						chr3	TogoVar
ADAMTSL1_chr9_18469153_18915950	18503421	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0014 a0014	a0014c0046 a0014c0046	a0014c0046t0002 a0014c0046t0002	a0014c0046t0002g0202 a0014c0046t0002g0202	1	110	0.0091	34	c.64- others(49): Show c.64-1407_64-1406insGTATATATATATATATATATATATATATAT ATAT		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18588867	C C	CCATATAT others(27): Show CCATATATATACATATACATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03831.hp1 HG03710.hp2 HG03831.hp1	a0002 a0002	a0002c0004 a0002c0037 a0002c0004 a0002c0037	a0002c0004t0008 a0002c0037t0004 a0002c0004t0008 a0002c0037t0004	a0002c0004t0008g0089 a0002c0037t0004g0168 a0002c0004t0008g0089 a0002c0037t0004g0168	2	211	0.0095	34	c.474 others(53): Show c.474+14602_474+14635dupCATATATATACATATACATATATATA TATATATA		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	4/28					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688689	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0190 a0002c0001t0002g0190	1	33	0.0303	34	c.157 others(53): Show c.1574+3890_1574+3891insAAAATATATATATATATATATATATA TATATATA		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18866116	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0005 a0005	a0005c0050 a0005c0050	a0005c0050t0002 a0005c0050t0002	a0005c0050t0002g0198 a0005c0050t0002g0198	1	52	0.0192	34	c.425 others(55): Show c.4250-21701_4250-21700insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	23/28					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL2_chr9_133529704_133580519	133563872	A A	AGAGAGAG others(27): Show AGAGAGAGAGAGAGGGAGAGAGAGAGAGAAGGGGT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0039 a0002c0002t0010g0039	1	150	0.0067	34	c.174 others(53): Show c.1747+2610_1747+2611insTGAGAGAGAGAGAGGGAGAGAGAGAG AGAAGGGG		ADAMTSL2	ENSG00000197859.11	transcript	ENST00000651351.2	protein_coding	12/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL3_chr15_83649123_84044842	83674766	C C	CATATATA others(27): Show CATATATACACACATATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02698.hp1 HG02970.hp1 others(2): Show HG02486.hp2 HG02698.hp1 HG02970.hp1 NA18977.hp1 NA19085.hp1	a0003 a0005 a0008 others(1): Show a0003 a0005 a0008 a0009	a0003c0003 a0005c0006 a0008c0010 others(1): Show a0003c0003 a0005c0006 a0008c0010 a0009c0009	a0003c0003t0001 a0005c0006t0001 a0008c0010t0001 others(1): Show a0003c0003t0001 a0005c0006t0001 a0008c0010t0001 a0009c0009t0010	a0003c0003t0001g0128 a0005c0006t0001g0127 a0005c0006t0001g0152 others(2): Show a0003c0003t0001g0128 a0005c0006t0001g0127 a0005c0006t0001g0152 a0008c0010t0001g0169 a0009c0009t0010g0148	5	111	0.0450	34	c.69+ others(51): Show c.69+18943_69+18944insCACACATATATACATATATATATATATA TATATA		ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903922	A A	AGGAAGGA others(27): Show AGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 NA18940.hp2 others(6): Show HG00408.hp2 HG00438.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18948.hp1 NA19010.hp1 NA19057.hp2 NA19083.hp2	a0001 a0002 a0040 a0001 a0002 a0040	a0001c0001 a0002c0008 a0040c0041 a0001c0001 a0002c0008 a0040c0041	a0001c0001t0001 a0002c0008t0001 a0040c0041t0001 a0001c0001t0001 a0002c0008t0001 a0040c0041t0001	a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0084 others(6): Show a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0222 a0002c0008t0001g0093 a0040c0041t0001g0078	9	198	0.0455	34	c.170 others(53): Show c.1700+4191_1700+4192insGGAAGGAAGGAAGGGAGGGAGGGAGG GAGGGAGG		ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29						chr15	TogoVar
ADAP1_chr7_892900_959680	897651	A A	AGGGGGCA others(27): Show AGGGGGCACCTGGGGAAGGGGGGCACCTGGGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	10	0.1000	34	c.12 others(45): Show c.1269_*1270insCTTCCCCAGGTGCCCCCCTTCCCCAGGTGCCCCC		ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding					248		chr7	TogoVar
ADAP1_chr7_892900_959680	909124	T T	TCCTCCCG others(27): Show TCCTCCCGACAGCAGGCGCCAGCGGGAACCCCGGA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	8	0.1250	34	c.389 others(51): Show c.389-3953_389-3952insTCCGGGGTTCCCGCTGGCGCCTGCTGTC GGGAGG		ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10						chr7	TogoVar
ADAP1_chr7_892900_959680	942692	G G	GGAGTGAG others(27): Show GGAGTGAGGAGGAGGAAGAGAGAGTAGGAGGAAGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	10	0.1000	34	c.83- others(49): Show c.83-7188_83-7187insTCTTCCTCCTACTCTCTCTTCCTCCTCCTC ACTC		ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	1/10						chr7	TogoVar
ADARB2_chr10_1172313_1742525	1459911	G G	GCAAACCT others(27): Show GCAAACCTGCCTGTGACCTGAGTTTACCTGTGTAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03669.hp2 HG04184.hp2 others(1): Show HG02602.hp2 HG03669.hp2 HG04184.hp2 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0031 a0001c0001t0054 a0002c0002t0002 others(1): Show a0001c0001t0031 a0001c0001t0054 a0002c0002t0002 a0002c0002t0004	a0001c0001t0031g0059 a0001c0001t0054g0083 a0002c0002t0002g0075 others(1): Show a0001c0001t0031g0059 a0001c0001t0054g0083 a0002c0002t0002g0075 a0002c0002t0004g0101	4	104	0.0385	34	c.101 others(53): Show c.101-80752_101-80751insTTACACAGGTAAACTCAGGTCACAGG CAGGTTTG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1460015	A A	AAACCTGC others(27): Show AAACCTGCCTGTGACCTGAGTTTACCTGTGTAACG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03098.hp1 HG02965.hp2 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0026 a0002c0004t0047 a0002c0002t0026 a0002c0004t0047	a0002c0002t0026g0032 a0002c0004t0047g0063 a0002c0002t0026g0032 a0002c0004t0047g0063	2	77	0.0260	34	c.101 others(53): Show c.101-80856_101-80855insCGTTACACAGGTAAACTCAGGTCACA GGCAGGTT		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar

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