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	status	chr	external
IDS_chrX_149471988_149510306	149487096	A A	ACCCTAGT others(18): Show ACCCTAGTTCATAAAAAGCACAGAAT	frameshift_variant others(2): Show frameshift_variant stop_gained splice_region_variant	HIGH	NA19072.hp1 NA19072.hp1	a0010 a0010	a0010c0005 a0010c0005	a0010c0005t0001 a0010c0005t0001	a0010c0005t0001g0108 a0010c0005t0001g0108	1	301	0.0033	25	c.100 others(37): Show c.1007-23_1008dupATTCTGTGCTTTTTATGAACTAGGG	p.Trp others(5): Show p.Trp337fs	IDS	ENSG00000010404.18	transcript	ENST00000340855.11	protein_coding	8/9	1177/7580	1008/1653	336/550		chrX	TogoVar
IDS_chrX_149471988_149510306	149498109	T T	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	NA18974.hp1 NA18974.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0147 a0007c0008t0001g0147	1	301	0.0033	0	c.706 others(3): Show c.706A>T	p.Lys others(4): Show p.Lys236*	IDS	ENSG00000010404.18	transcript	ENST00000340855.11	protein_coding	5/9	875/7580	706/1653	236/550		chrX	TogoVar
IFIT1_chr10_89387623_89411487	89403059	C C	T T	stop_gained stop_gained	HIGH	NA18939.hp1 NA18939.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0013 a0004c0012t0001g0013	1	428	0.0023	0	c.784 others(3): Show c.784C>T	p.Arg others(4): Show p.Arg262*	IFIT1	ENSG00000185745.10	transcript	ENST00000371804.4	protein_coding	2/2	874/4302	784/1437	262/478		chr10	TogoVar
IFIT3_chr10_89322997_89345968	89339372	C C	A A	stop_gained stop_gained	HIGH	NA19067.hp1 NA19067.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0001 a0005c0008t0001g0001	1	400	0.0025	0	c.717 others(3): Show c.717C>A	p.Cys others(4): Show p.Cys239*	IFIT3	ENSG00000119917.15	transcript	ENST00000371818.9	protein_coding	2/2	794/2390	717/1473	239/490		chr10	TogoVar
IFNA10_chr9_21201181_21212143	21206725	G G	A A	stop_gained stop_gained	HIGH	HG02559.hp2 HG02976.hp1 HG03041.hp1 others(1): Show HG02559.hp2 HG02976.hp1 HG03041.hp1 NA20129.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0000 a0002c0007t0004g0000	4	456	0.0088	0	c.373 others(3): Show c.373C>T	p.Gln others(4): Show p.Gln125*	IFNA10	ENSG00000186803.3	transcript	ENST00000357374.2	protein_coding	1/1	419/963	373/570	125/189		chr9	TogoVar
IFNA10_chr9_21201181_21212143	21207038	A A	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp1 HG00544.hp2 others(191): Show HG00099.hp1 HG00323.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0004 others(9): Show a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0006 a0002c0007 a0002c0009 a0002c0010 a0002c0013 a0002c0015 a0002c0016 a0002c0017	a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 others(13): Show a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 a0002c0003t0001 a0002c0003t0005 a0002c0003t0007 a0002c0004t0002 a0002c0005t0002 a0002c0006t0004 a0002c0007t0004 a0002c0009t0006 a0002c0010t0004 a0002c0013t0002 a0002c0015t0002 a0002c0016t0005 a0002c0017t0011	a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 others(13): Show a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 a0002c0003t0001g0000 a0002c0003t0005g0000 a0002c0003t0007g0000 a0002c0004t0002g0000 a0002c0005t0002g0000 a0002c0006t0004g0000 a0002c0007t0004g0000 a0002c0009t0006g0000 a0002c0010t0004g0000 a0002c0013t0002g0000 a0002c0015t0002g0000 a0002c0016t0005g0000 a0002c0017t0011g0000	194	456	0.4254	0	c.60T others(2): Show c.60T>A	p.Cys others(3): Show p.Cys20*	IFNA10	ENSG00000186803.3	transcript	ENST00000357374.2	protein_coding	1/1	106/963	60/570	20/189		chr9	TogoVar
IFNA5_chr9_21299326_21310313	21304914	G G	A A	stop_gained stop_gained	HIGH	HG00280.hp2 HG00280.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0000 a0003c0007t0001g0000	1	452	0.0022	0	c.343 others(3): Show c.343C>T	p.Gln others(4): Show p.Gln115*	IFNA5	ENSG00000147873.6	transcript	ENST00000610521.2	protein_coding	1/1	400/988	343/570	115/189		chr9	TogoVar
IFNA7_chr9_21196469_21207205	21201826	G G	A A	stop_gained stop_gained	HIGH	HG01243.hp1 HG01496.hp1 HG01243.hp1 HG01496.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0000 a0003c0004t0001g0000	2	454	0.0044	0	c.340 others(3): Show c.340C>T	p.Gln others(4): Show p.Gln114*	IFNA7	ENSG00000214042.1	transcript	ENST00000239347.3	protein_coding	1/1	380/737	340/570	114/189		chr9	TogoVar
IFNE_chr9_21475839_21487313	21481484	G G	A A	stop_gained stop_gained	HIGH	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(58): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00673.hp2 HG01081.hp2 HG01358.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02280.hp1 HG02559.hp1 HG02602.hp2 HG02683.hp2 HG02723.hp2 HG03017.hp1 HG03471.hp2 HG03704.hp2 HG04115.hp1 HG04184.hp1 NA18612.hp1 NA18944.hp2 NA18948.hp1 NA18959.hp1 NA18961.hp2 NA18966.hp2 NA18967.hp2 NA18975.hp1 NA18984.hp1 NA18987.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19056.hp2 NA19063.hp1 NA19074.hp2 NA19076.hp2 NA19080.hp2 NA19083.hp2 NA19089.hp2 NA20129.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	61	448	0.1362	0	c.211 others(3): Show c.211C>T	p.Gln others(3): Show p.Gln71*	IFNE	ENSG00000184995.7	transcript	ENST00000448696.4	protein_coding	1/1	830/1475	211/627	71/208		chr9	TogoVar
IFNL2_chr19_39263396_39275188	39269972	C C	T T	stop_gained stop_gained	HIGH	NA21309.hp1 NA21309.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0001 a0013c0016t0001	a0013c0016t0001g0016 a0013c0016t0001g0016	1	419	0.0024	0	c.562 others(3): Show c.562C>T	p.Arg others(4): Show p.Arg188*	IFNL2	ENSG00000183709.8	transcript	ENST00000331982.6	protein_coding	6/6	735/951	562/603	188/200		chr19	TogoVar
IFT27_chr22_36753211_36781119	36762975	G G	A A	stop_gained stop_gained	HIGH	NA19030.hp1 NA19030.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0115 a0006c0005t0002g0115	1	296	0.0034	0	c.391 others(3): Show c.391C>T	p.Arg others(4): Show p.Arg131*	IFT27	ENSG00000100360.15	transcript	ENST00000433985.7	protein_coding	6/7	803/1073	391/561	131/186		chr22	TogoVar
IGFALS_chr16_1785413_1798705	1790761	G G	A A	stop_gained stop_gained	HIGH	NA18986.hp1 NA18986.hp1	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0005 a0016c0024t0005	a0016c0024t0005g0058 a0016c0024t0005g0058	1	450	0.0022	0	c.165 others(4): Show c.1657C>T	p.Gln others(4): Show p.Gln553*	IGFALS	ENSG00000099769.6	transcript	ENST00000215539.4	protein_coding	2/2	1710/2058	1657/1818	553/605		chr16	TogoVar
IGFL4_chr19_46034182_46046002	46040269	TGGAAGCA others(5): Show TGGAAGCAGGGCC	T T	stop_gained others(1): Show stop_gained disruptive_inframe_deletion	HIGH	HG02109.hp2 HG02109.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0018 a0004c0006t0001g0018	1	452	0.0022	-12	c.206 others(19): Show c.206_217delGGCCCTGCTTCC	p.Trp others(17): Show p.Trp69_Gln73delinsTer	IGFL4	ENSG00000204869.9	transcript	ENST00000377697.2	protein_coding	3/4	257/1125	206/375	69/124		chr19	TogoVar
IGFN1_chr1_201185824_201233952	201207060	G G	T T	stop_gained stop_gained	HIGH	NA19001.hp1 NA19001.hp1	a0088 a0088	a0088c0076 a0088c0076	a0088c0076t0003 a0088c0076t0003	a0088c0076t0003g0217 a0088c0076t0003g0217	1	426	0.0023	0	c.216 others(4): Show c.2167G>T	p.Gly others(4): Show p.Gly723*	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	2298/11811	2167/11127	723/3708		chr1	TogoVar
IGFN1_chr1_201185824_201233952	201208962	A A	T T	stop_gained stop_gained	HIGH	NA18974.hp1 NA18974.hp1	a0083 a0083	a0083c0104 a0083c0104	a0083c0104t0001 a0083c0104t0001	a0083c0104t0001g0120 a0083c0104t0001g0120	1	426	0.0023	0	c.406 others(4): Show c.4069A>T	p.Lys others(5): Show p.Lys1357*	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	4200/11811	4069/11127	1357/3708		chr1	TogoVar
IGFN1_chr1_201185824_201233952	201209798	G G	GCAGGTTA others(208): Show GCAGGTTATAGGAAGGACTTGGGGGTTCCTGAGGGAATAGGTTCAGGAAG TAAGGCAGGTTTTAGGGATGGTTTAGGGGGTTCTGAAGAAATGGGGTCAG TGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGT TCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAAT GGGGTCAGTGAATGAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03098.hp2 HG03098.hp2	a0066 a0066	a0066c0123 a0066c0123	a0066c0123t0004 a0066c0123t0004	a0066c0123t0004g0135 a0066c0123t0004g0135	1	165	0.0061	215	c.490 others(224): Show c.4905_4906insCAGGTTATAGGAAGGACTTGGGGGTTCCTGAGGGAA TAGGTTCAGGAAGTAAGGCAGGTTTTAGGGATGGTTTAGGGGGTTCTGAA GAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCC TAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGG GTTCTGGAGAAATGGGGTCAGTGAATGAA	p.Ala others(6): Show p.Ala1636fs	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	5037/11811	4906/11127	1636/3708		chr1	TogoVar
IGFN1_chr1_201185824_201233952	201209798	G G	GGCAGGTT others(100): Show GGCAGGTTATAGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAG TAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAG TGAATGAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19001.hp1 NA19001.hp1	a0088 a0088	a0088c0076 a0088c0076	a0088c0076t0003 a0088c0076t0003	a0088c0076t0003g0217 a0088c0076t0003g0217	1	165	0.0061	107	c.491 others(116): Show c.4916_4917insAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGG AGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTC AGTGAATGAAGCAGGTTATAG	p.Lys others(6): Show p.Lys1640fs	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	5048/11811	4917/11127	1639/3708	INFO_REALIGN_3_PRIME	chr1	TogoVar
IGFN1_chr1_201185824_201233952	201210972	C C	CGGTCAAT others(208): Show CGGTCAATGGATGAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGG AATGGGTTAGGCAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGG AGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTC CTAAGGGAATGGGTTCAGGGAGCAAGGCAGGTTTTAGGGATGGTTTAGGG AGTTCTGGGGAAATGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19058.hp1 NA19058.hp1	a0091 a0091	a0091c0062 a0091c0062	a0091c0062t0003 a0091c0062t0003	a0091c0062t0003g0215 a0091c0062t0003g0215	1	5	0.2000	215	c.612 others(224): Show c.6123_6124insAAGGGAATGGGTTAGGCAGTAAGGCAAGTTTTAGGG ATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTAT AGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGCAAGGCAGG TTTTAGGGATGGTTTAGGGAGTTCTGGGGAAATGGGGTCAATGGATGAGG CAGGTTATAGGAAGGATTTGGGGGCTCCT	p.Glu others(6): Show p.Glu2042fs	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	6255/11811	6124/11127	2042/3708	INFO_REALIGN_3_PRIME	chr1	TogoVar
IGFN1_chr1_201185824_201233952	201210972	C C	CGGTCAAT others(210): Show CGGTCAATGGATGAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGG AATGGGTTCAGGCAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGGTTCT GGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGC TCCTAAGGGAATGGGTTCAGGGAGCAAGGCAGGTTTTAGGGATGGTTTAG GGAGTTCTGGGGAAATGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18974.hp1 NA18974.hp1	a0083 a0083	a0083c0104 a0083c0104	a0083c0104t0001 a0083c0104t0001	a0083c0104t0001g0120 a0083c0104t0001g0120	1	5	0.2000	217	c.612 others(226): Show c.6123_6124insAAGGGAATGGGTTCAGGCAGTAAGGCAAGTTTTAGG GATGGTTTAGGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTT ATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGCAAGGCA GGTTTTAGGGATGGTTTAGGGAGTTCTGGGGAAATGGGGTCAATGGATGA GGCAGGTTATAGGAAGGATTTGGGGGCTCCT	p.Glu others(6): Show p.Glu2042fs	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	6255/11811	6124/11127	2042/3708	INFO_REALIGN_3_PRIME	chr1	TogoVar
IGFN1_chr1_201185824_201233952	201210972	C C	CGGTCAAT others(210): Show CGGTCAATGGATGAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGG AATGGGTTCAGGCAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTG GAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGGC TCCTAAGGGAATGGGTTCAGGGAGCAAGGCAGGTTTTAGGGATGGTTTAG GGAGTTCTGGGGAAATGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18941.hp1 NA18941.hp1	a0076 a0076	a0076c0156 a0076c0156	a0076c0156t0001 a0076c0156t0001	a0076c0156t0001g0263 a0076c0156t0001g0263	1	5	0.2000	217	c.612 others(226): Show c.6123_6124insAAGGGAATGGGTTCAGGCAGTAAGGCAAGTTTTAGG GATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTA TAGGAAGGATTTGGGGGGCTCCTAAGGGAATGGGTTCAGGGAGCAAGGCA GGTTTTAGGGATGGTTTAGGGAGTTCTGGGGAAATGGGGTCAATGGATGA GGCAGGTTATAGGAAGGATTTGGGGGCTCCT	p.Glu others(6): Show p.Glu2042fs	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	6255/11811	6124/11127	2042/3708	INFO_REALIGN_3_PRIME	chr1	TogoVar
IGLL5_chr22_22882816_22901111	22888117	C C	T T	stop_gained stop_gained	HIGH	HG02897.hp1 HG02897.hp1	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0004 a0010c0020t0004	a0010c0020t0004g0034 a0010c0020t0004g0034	1	300	0.0033	0	c.64C others(2): Show c.64C>T	p.Gln others(3): Show p.Gln22*	IGLL5	ENSG00000254709.8	transcript	ENST00000526893.6	protein_coding	1/3	302/1300	64/645	22/214		chr22	TogoVar
IGSF10_chr3_151431203_151466061	151443784	G G	C C	stop_gained stop_gained	HIGH	HG03225.hp1 HG03225.hp1	a0032 a0032	a0032c0054 a0032c0054	a0032c0054t0003 a0032c0054t0003	a0032c0054t0003g0243 a0032c0054t0003g0243	1	422	0.0024	0	c.516 others(4): Show c.5163C>G	p.Tyr others(5): Show p.Tyr1721*	IGSF10	ENSG00000152580.9	transcript	ENST00000282466.4	protein_coding	7/8	5367/8562	5163/7872	1721/2623		chr3	TogoVar
IGSF5_chr21_39740183_39807081	39746251	G G	A A	stop_gained stop_gained	HIGH	HG00140.hp2 HG01496.hp2 HG00140.hp2 HG01496.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0156 a0010c0013t0001g0161 a0010c0013t0001g0156 a0010c0013t0001g0161	2	350	0.0057	0	c.53G others(2): Show c.53G>A	p.Trp others(3): Show p.Trp18*	IGSF5	ENSG00000183067.6	transcript	ENST00000380588.5	protein_coding	2/9	380/2275	53/1224	18/407		chr21	TogoVar
IGSF8_chr1_160086343_160103619	160092561	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00099.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0034 a0004c0012t0002g0034	1	414	0.0024	0	c.144 others(4): Show c.1447C>T	p.Arg others(4): Show p.Arg483*	IGSF8	ENSG00000162729.14	transcript	ENST00000314485.12	protein_coding	5/7	1594/2270	1447/1842	483/613		chr1	TogoVar
IK_chr5_140642829_140667480	140660784	A A	ATGGGTTG others(27): Show ATGGGTTGGGGGGGGGGGATGGTGATGGGGGATGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19005.hp1 NA19005.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0082 a0004c0004t0001g0082	1	378	0.0026	34	c.138 others(43): Show c.1384_1385insGGTTGGGGGGGGGGGATGGTGATGGGGGATGGTG	p.Glu others(5): Show p.Glu462fs	IK	ENSG00000113141.19	transcript	ENST00000417647.7	protein_coding	16/20	1465/1905	1385/1674	462/557	INFO_REALIGN_3_PRIME	chr5	TogoVar
IL12B_chr5_159309780_159335487	159316691	G G	T T	stop_gained stop_gained	HIGH	NA18970.hp2 NA19085.hp2 NA18970.hp2 NA19085.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0040 a0004c0005t0001g0040	2	390	0.0051	0	c.981 others(3): Show c.981C>A	p.Cys others(4): Show p.Cys327*	IL12B	ENSG00000113302.6	transcript	ENST00000231228.3	protein_coding	7/8	1037/2364	981/987	327/328		chr5	TogoVar
IL17RB_chr3_53841568_53870794	53865249	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00280.hp1 HG00438.hp1 others(51): Show HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp1 HG00741.hp2 HG01069.hp1 HG01255.hp1 HG01433.hp1 HG01515.hp2 HG01978.hp2 HG01981.hp1 HG02074.hp1 HG02132.hp2 HG02135.hp2 HG02602.hp2 HG02735.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp2 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18965.hp1 NA18969.hp2 NA18972.hp1 NA18974.hp1 NA18980.hp2 NA18993.hp1 NA18995.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19063.hp1 NA19067.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA20300.hp2	a0002 a0002	a0002c0005 a0002c0007 a0002c0005 a0002c0007	a0002c0005t0001 a0002c0007t0001 a0002c0007t0006 others(1): Show a0002c0005t0001 a0002c0007t0001 a0002c0007t0006 a0002c0007t0007	a0002c0005t0001g0006 a0002c0005t0001g0027 a0002c0005t0001g0028 others(33): Show a0002c0005t0001g0006 a0002c0005t0001g0027 a0002c0005t0001g0028 a0002c0005t0001g0034 a0002c0005t0001g0047 a0002c0005t0001g0057 a0002c0005t0001g0153 a0002c0005t0001g0154 a0002c0005t0001g0155 a0002c0005t0001g0159 a0002c0005t0001g0160 a0002c0005t0001g0161 a0002c0005t0001g0162 a0002c0005t0001g0163 a0002c0005t0001g0164 a0002c0005t0001g0168 a0002c0005t0001g0182 a0002c0005t0001g0199 a0002c0005t0001g0207 a0002c0005t0001g0209 a0002c0005t0001g0213 a0002c0005t0001g0214 a0002c0005t0001g0249 a0002c0005t0001g0250 a0002c0005t0001g0270 a0002c0005t0001g0272 a0002c0007t0001g0024 a0002c0007t0001g0035 a0002c0007t0001g0093 a0002c0007t0001g0126 a0002c0007t0006g0122 a0002c0007t0006g0123 a0002c0007t0006g0124 a0002c0007t0006g0125 a0002c0007t0007g0036 a0002c0007t0007g0098	54	448	0.1205	0	c.145 others(4): Show c.1450C>T	p.Gln others(4): Show p.Gln484*	IL17RB	ENSG00000056736.10	transcript	ENST00000288167.8	protein_coding	11/11	1471/2016	1450/1509	484/502		chr3	TogoVar
IL20_chr1_206860623_206874223	206866493	C C	T T	stop_gained stop_gained	HIGH	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0003 a0003c0004t0001g0003	1	454	0.0022	0	c.235 others(3): Show c.235C>T	p.Arg others(3): Show p.Arg79*	IL20	ENSG00000162891.11	transcript	ENST00000367098.6	protein_coding	4/6	329/1284	235/531	79/176		chr1	TogoVar
IL34_chr16_70641559_70665682	70660097	C C	A A	stop_gained stop_gained	HIGH	HG00140.hp2 HG00323.hp2 HG01123.hp2 others(15): Show HG00140.hp2 HG00323.hp2 HG01123.hp2 HG02015.hp1 HG02027.hp1 HG02155.hp1 HG02257.hp1 HG02735.hp1 HG03239.hp1 HG03927.hp1 HG04115.hp2 NA18941.hp2 NA18983.hp2 NA19003.hp1 NA19066.hp1 NA19070.hp2 NA19079.hp1 NA20129.hp2	a0003 a0008 a0003 a0008	a0003c0003 a0008c0013 a0003c0003 a0008c0013	a0003c0003t0001 a0003c0003t0002 a0003c0003t0015 others(1): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0015 a0008c0013t0003	a0003c0003t0001g0012 a0003c0003t0001g0014 a0003c0003t0001g0015 others(10): Show a0003c0003t0001g0012 a0003c0003t0001g0014 a0003c0003t0001g0015 a0003c0003t0001g0018 a0003c0003t0001g0060 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0079 a0003c0003t0001g0084 a0003c0003t0001g0098 a0003c0003t0002g0128 a0003c0003t0015g0092 a0008c0013t0003g0196	18	436	0.0413	0	c.639 others(3): Show c.639C>A	p.Tyr others(4): Show p.Tyr213*	IL34	ENSG00000157368.12	transcript	ENST00000288098.7	protein_coding	6/6	1028/1613	639/729	213/242		chr16	TogoVar
IL9_chr5_135887246_135900841	135894080	G G	C C	stop_gained stop_gained	HIGH	HG00408.hp1 HG02074.hp2 HG00408.hp1 HG02074.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0047 a0003c0004t0001g0048 a0003c0004t0001g0047 a0003c0004t0001g0048	2	450	0.0044	0	c.255 others(3): Show c.255C>G	p.Tyr others(3): Show p.Tyr85*	IL9	ENSG00000145839.2	transcript	ENST00000274520.2	protein_coding	4/5	280/605	255/435	85/144		chr5	TogoVar
ILDR1_chr3_121982323_122027247	121994188	G G	A A	stop_gained stop_gained	HIGH	NA19002.hp1 NA19057.hp2 NA19002.hp1 NA19057.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0021 a0010c0012t0001g0021	2	376	0.0053	0	c.772 others(3): Show c.772C>T	p.Gln others(4): Show p.Gln258*	ILDR1	ENSG00000145103.15	transcript	ENST00000344209.10	protein_coding	6/8	942/2855	772/1641	258/546		chr3	TogoVar
IMPACT_chr18_24421670_24458531	24449864	G G	T T	stop_gained stop_gained	HIGH	NA19089.hp2 NA19089.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0157 a0007c0006t0001g0157	1	400	0.0025	0	c.805 others(3): Show c.805G>T	p.Gly others(4): Show p.Gly269*	IMPACT	ENSG00000154059.11	transcript	ENST00000284202.9	protein_coding	10/11	892/3734	805/963	269/320		chr18	TogoVar
INKA1_chr3_49798261_49810030	49804892	G G	T T	stop_gained stop_gained	HIGH	HG02486.hp1 HG03579.hp2 HG02486.hp1 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	2	342	0.0058	0	c.763 others(3): Show c.763G>T	p.Glu others(4): Show p.Glu255*	INKA1	ENSG00000185614.7	transcript	ENST00000333323.6	protein_coding	2/2	895/1033	763/858	255/285		chr3	TogoVar
INMT_chr7_30747135_30762602	30755426	C C	T T	stop_gained stop_gained	HIGH	HG02145.hp1 HG02280.hp1 HG02145.hp1 HG02280.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0036 a0011c0016t0037 a0011c0016t0036 a0011c0016t0037	a0011c0016t0036g0015 a0011c0016t0037g0015 a0011c0016t0036g0015 a0011c0016t0037g0015	2	432	0.0046	0	c.367 others(3): Show c.367C>T	p.Arg others(4): Show p.Arg123*	INMT	ENSG00000241644.2	transcript	ENST00000013222.5	protein_coding	3/3	383/2559	367/792	123/263		chr7	TogoVar
INSL5_chr1_66792740_66806276	66798132	G G	A A	stop_gained stop_gained	HIGH	NA19080.hp1 NA19080.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0024 a0004c0005t0001g0024	1	448	0.0022	0	c.289 others(3): Show c.289C>T	p.Gln others(3): Show p.Gln97*	INSL5	ENSG00000172410.5	transcript	ENST00000304526.3	protein_coding	2/2	344/736	289/408	97/135		chr1	TogoVar
INTS10_chr8_19812416_19857067	19832076	T T	TAAGAATC others(312): Show TAAGAATCTTCCTCACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0003 a0002c0014t0003	a0002c0014t0003g0094 a0002c0014t0003g0094	1	417	0.0024	319	c.136 others(328): Show c.1360_1361insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAGAATCTTCCTCACTG	p.Asp others(5): Show p.Asp454fs	INTS10	ENSG00000104613.12	transcript	ENST00000397977.8	protein_coding	11/17	1483/2517	1361/2133	454/710	INFO_REALIGN_3_PRIME	chr8	TogoVar
INTS10_chr8_19812416_19857067	19832076	T T	TAAGAATC others(380): Show TAAGAATCTTCCTCACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0003 a0002c0013t0003	a0002c0013t0003g0028 a0002c0013t0003g0028	1	417	0.0024	387	c.136 others(396): Show c.1360_1361insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATCTTCCTCACT G	p.Thr others(400): Show p.Thr453_Asp454insGlyArgAlaArgTrpLeuThrProValIlePr oAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluT hrIleProAlaLysThrValLysProArgLeuTyrTerLysTyrLysLys LeuAlaGlyArgSerGlyGlyArgLeuTerSerGlnLeuLeuGlyArgLe uArgGlnGluAsnGlyValAsnProGlyGlyGlyAlaCysSerGluProA rgSerArgHisCysThrProAlaTrpAlaThrGluArgAspSerValSer LysLysLysLysLysLysLysLysLysLysLysLysLysLysLysLysLy sLysLysLysLysLysLysLysLysLysLysLysLysLysArgIlePheL euThr	INTS10	ENSG00000104613.12	transcript	ENST00000397977.8	protein_coding	11/17	1483/2517	1361/2133	454/710	INFO_REALIGN_3_PRIME	chr8	TogoVar
INTS11_chr1_1306600_1329660	1321073	G G	A A	stop_gained stop_gained	HIGH	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0132 a0002c0014t0001g0132	1	352	0.0028	0	c.49C others(2): Show c.49C>T	p.Arg others(3): Show p.Arg17*	INTS11	ENSG00000127054.22	transcript	ENST00000435064.6	protein_coding	2/17	101/2114	49/1803	17/600		chr1	TogoVar
INVS_chr9_100094243_100307175	100240112	C C	CCAACAAA others(990): Show CCAACAAAGATCAAAAAAGACAAAGAAGGGAATTCCTTAAAGGTAAAAGG ATCAATATAACAAGAAGAGCGAACTATCCTAAATATATATGCACCCAATA CAGGAGCACCCAGATTCATAAAGCAAGTTCTTTGAGACCTACAAAGAGAC TTACACTCCCACACAATAATAGTGGGATACTTTAACACCCCACTGTCAAT ATTAGATGGATCAACACAACAGAAAATTAAGAAGGATATTCAGGACTTGA ACTCAGCTATGGATCAAGTGGACCTAATAAACATCTACAGAACTCTCCAC CCCAAATCAACAGAATATATATTCTTCTCAGTACCACATAGAACTTACTC TAAAATTGACCACGTAATTGGAAGTAAAACCTCCTCAGCAAATGTAAAAG AATGGAAATCATAACAGACAGTCTCTTAGACCACAGTGCAATCAAATTAG AACTCAGGATTAAGAAACTCACTCAAAACCGCACAACTACATGGAAACTG AACAACCTGCTCCTGAATGACTACTGAGCAAATAATGAAATAAAAGCAGA AATAAATAAGTTCTTTGAAACCAATGAGAACAAAGACACAACGTACCAGA ATCTGCGGGACACAGCTAAAGCAGTGGTTAGAGGGAAATTTACAGCACTA AATGCCCACAGGACAAAGTAGGAAAGATCTAAAATTGACACCCTAACATC ACAATTAAAACAAGTAGAGAATCAAGAGCAAACAAATTAAAAACCTAACA GAAGACAAGAGATAACTAAGATCAGAGCAGTACTGAAGGAGACAGAAACA TGAGAAATCCTTCAAAAAAATCAGTGAATCCAGGAGCTGGTTTTTTGAAA AGACTAACAAAATAGACCACTAGCCAGACTAATAAAGAAGAAAACAGAGA ATTAAATAGACACAATAAAAAATGATATAGGGGATATCACCACTGACCCC ACAGAAATACAAACTACCATCAGAGAATACTATAAACACTTCCATGCA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02056.hp2 HG02056.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0002 a0005c0011t0002	a0005c0011t0002g0103 a0005c0011t0002g0103	1	180	0.0056	997	c.668 others(1004): Show c.668_669insCAACAAAGATCAAAAAAGACAAAGAAGGGAATTCCTTA AAGGTAAAAGGATCAATATAACAAGAAGAGCGAACTATCCTAAATATATA TGCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTTCTTTGAGACC TACAAAGAGACTTACACTCCCACACAATAATAGTGGGATACTTTAACACC CCACTGTCAATATTAGATGGATCAACACAACAGAAAATTAAGAAGGATAT TCAGGACTTGAACTCAGCTATGGATCAAGTGGACCTAATAAACATCTACA GAACTCTCCACCCCAAATCAACAGAATATATATTCTTCTCAGTACCACAT AGAACTTACTCTAAAATTGACCACGTAATTGGAAGTAAAACCTCCTCAGC AAATGTAAAAGAATGGAAATCATAACAGACAGTCTCTTAGACCACAGTGC AATCAAATTAGAACTCAGGATTAAGAAACTCACTCAAAACCGCACAACTA CATGGAAACTGAACAACCTGCTCCTGAATGACTACTGAGCAAATAATGAA ATAAAAGCAGAAATAAATAAGTTCTTTGAAACCAATGAGAACAAAGACAC AACGTACCAGAATCTGCGGGACACAGCTAAAGCAGTGGTTAGAGGGAAAT TTACAGCACTAAATGCCCACAGGACAAAGTAGGAAAGATCTAAAATTGAC ACCCTAACATCACAATTAAAACAAGTAGAGAATCAAGAGCAAACAAATTA AAAACCTAACAGAAGACAAGAGATAACTAAGATCAGAGCAGTACTGAAGG AGACAGAAACATGAGAAATCCTTCAAAAAAATCAGTGAATCCAGGAGCTG GTTTTTTGAAAAGACTAACAAAATAGACCACTAGCCAGACTAATAAAGAA GAAAACAGAGAATTAAATAGACACAATAAAAAATGATATAGGGGATATCA CCACTGACCCCACAGAAATACAAACTACCATCAGAGAATACTATAAACAC TTCCATGCA	p.Pro others(5): Show p.Pro224fs	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	6/17	867/4897	669/3198	223/1065		chr9	TogoVar
IPO9_chr1_201824157_201889291	201876028	C C	T T	stop_gained stop_gained	HIGH	HG03017.hp1 HG03017.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0208 a0004c0008t0002g0208	1	394	0.0025	0	c.310 others(4): Show c.3100C>T	p.Arg others(5): Show p.Arg1034*	IPO9	ENSG00000198700.10	transcript	ENST00000361565.9	protein_coding	24/24	3153/11416	3100/3126	1034/1041		chr1	TogoVar
IQCA1L_chr7_151185873_151210496	151204745	C C	CTACCTGC others(4): Show CTACCTGCACTA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19030.hp1 NA19030.hp1	a0057 a0057	a0057c0050 a0057c0050	a0057c0050t0001 a0057c0050t0001	a0057c0050t0001g0068 a0057c0050t0001g0068	1	446	0.0022	11	c.102 others(18): Show c.102_103insTAGTGCAGGTA	p.Glu others(4): Show p.Glu35fs	IQCA1L	ENSG00000278685.4	transcript	ENST00000615129.4	protein_coding	2/19	144/2606	102/2457	34/818		chr7	TogoVar
IQCA1L_chr7_151185873_151210496	151204778	C C	A A	stop_gained stop_gained	HIGH	NA19030.hp1 NA19030.hp1	a0057 a0057	a0057c0050 a0057c0050	a0057c0050t0001 a0057c0050t0001	a0057c0050t0001g0068 a0057c0050t0001g0068	1	446	0.0022	0	c.70G others(2): Show c.70G>T	p.Glu others(3): Show p.Glu24*	IQCA1L	ENSG00000278685.4	transcript	ENST00000615129.4	protein_coding	2/19	112/2606	70/2457	24/818		chr7	TogoVar
IQCA1L_chr7_151185873_151210496	151204830	G G	C C	stop_gained stop_gained	HIGH	NA19030.hp1 NA19030.hp1	a0057 a0057	a0057c0050 a0057c0050	a0057c0050t0001 a0057c0050t0001	a0057c0050t0001g0068 a0057c0050t0001g0068	1	446	0.0022	0	c.18C others(2): Show c.18C>G	p.Tyr others(2): Show p.Tyr6*	IQCA1L	ENSG00000278685.4	transcript	ENST00000615129.4	protein_coding	2/19	60/2606	18/2457	6/818		chr7	TogoVar
IQCF2_chr3_51856615_51868424	51863227	C C	T T	stop_gained stop_gained	HIGH	HG04199.hp2 HG04199.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0001 a0006c0006t0001g0001	1	424	0.0024	0	c.352 others(3): Show c.352C>T	p.Arg others(4): Show p.Arg118*	IQCF2	ENSG00000184345.5	transcript	ENST00000333127.4	protein_coding	3/3	404/601	352/495	118/164		chr3	TogoVar
IQCF6_chr3_51773563_51784237	51778787	G G	A A	stop_gained stop_gained	HIGH	HG02109.hp2 HG02109.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0008 a0006c0007t0001g0008	1	416	0.0024	0	c.277 others(3): Show c.277C>T	p.Arg others(3): Show p.Arg93*	IQCF6	ENSG00000214686.7	transcript	ENST00000667863.2	protein_coding	2/2	290/514	277/441	93/146		chr3	TogoVar
IQCM_chr4_149346709_149820843	149352043	G G	A A	stop_gained stop_gained	HIGH	NA18978.hp2 NA18985.hp2 NA18978.hp2 NA18985.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0048 a0004c0007t0001g0212 a0004c0007t0001g0048 a0004c0007t0001g0212	2	250	0.0080	0	c.141 others(4): Show c.1414C>T	p.Arg others(4): Show p.Arg472*	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	14/14	1744/2078	1414/1506	472/501		chr4	TogoVar
IQCM_chr4_149346709_149820843	149553215	G G	A A	stop_gained stop_gained	HIGH	HG02647.hp2 HG03453.hp2 NA19240.hp2 HG02647.hp2 HG03453.hp2 NA19240.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0008 a0004c0006t0001g0097 a0004c0006t0001g0232 a0004c0006t0001g0008 a0004c0006t0001g0097 a0004c0006t0001g0232	3	250	0.0120	0	c.102 others(4): Show c.1021C>T	p.Arg others(4): Show p.Arg341*	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	11/14	1351/2078	1021/1506	341/501		chr4	TogoVar
IRX6_chr16_55319203_55335756	55327620	C C	T T	stop_gained stop_gained	HIGH	NA18939.hp1 NA18939.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0002 a0013c0017t0002	a0013c0017t0002g0001 a0013c0017t0002g0001	1	446	0.0022	0	c.448 others(3): Show c.448C>T	p.Arg others(4): Show p.Arg150*	IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	4/6	1337/2681	448/1341	150/446		chr16	TogoVar
ISCU_chr12_108557596_108574368	108565411	G G	T T	stop_gained stop_gained	HIGH	HG02622.hp2 HG02622.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0003 a0005c0009t0003	a0005c0009t0003g0025 a0005c0009t0003g0025	1	444	0.0023	0	c.319 others(3): Show c.319G>T	p.Glu others(4): Show p.Glu107*	ISCU	ENSG00000136003.16	transcript	ENST00000311893.14	protein_coding	3/5	346/983	319/504	107/167		chr12	TogoVar
ISCU_chr12_108557596_108574368	108565415	G G	A A	stop_gained stop_gained	HIGH	HG02622.hp2 HG02622.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0003 a0005c0009t0003	a0005c0009t0003g0025 a0005c0009t0003g0025	1	444	0.0023	0	c.323 others(3): Show c.323G>A	p.Trp others(4): Show p.Trp108*	ISCU	ENSG00000136003.16	transcript	ENST00000311893.14	protein_coding	3/5	350/983	323/504	108/167		chr12	TogoVar

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