Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
API5_chr11_43306996_43349529	43335212	C C	CCCTCACC others(96): Show CCCTCACCACCACTCCCTGCCACCAACAAATACATTAGAATTCTTGCCTG ATTTCTGTCTCTGCAGGATCTCTTCCACATTCCTCCTTCTTATAAGAGCA CAGT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	382	0.0026	103	c.127 others(115): Show c.1279-65_1316dupCCTCACCACCACTCCCTGCCACCAACAAATACA TTAGAATTCTTGCCTGATTTCTGTCTCTGCAGGATCTCTTCCACATTCCT CCTTCTTATAAGAGCACAGT	p.Thr others(5): Show p.Thr440fs	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding	12/14	1449/3726	1317/1575	439/524	INFO_REALIGN_3_PRIME	chr11	TogoVar
APOBEC3B_chr22_38977347_38997779	38991390	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG02145.hp2 HG02647.hp1 HG02896.hp1 others(3): Show HG02145.hp2 HG02647.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1 NA20129.hp2	a0007 a0007	a0007c0012 a0007c0013 a0007c0012 a0007c0013	a0007c0012t0001 a0007c0013t0001 a0007c0012t0001 a0007c0013t0001	a0007c0012t0001g0007 a0007c0013t0001g0007 a0007c0012t0001g0007 a0007c0013t0001g0007	6	352	0.0170	-1	c.784 others(4): Show c.784delG	p.Val others(5): Show p.Val262fs	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	6/8	891/1590	784/1149	262/382	INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBR_chr16_28489643_28503964	28496129	CCGGGACA others(19): Show CCGGGACAGCCTCAGGAGGGGACGAGG	C C	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0030 a0030	a0030c0055 a0030c0055	a0030c0055t0001 a0030c0055t0001	a0030c0055t0001g0001 a0030c0055t0001g0001	1	404	0.0025	-26	c.109 others(35): Show c.1090_1115delGGGACAGCCTCAGGAGGGGACGAGGC	p.Gly others(5): Show p.Gly364fs	APOBR	ENSG00000184730.12	transcript	ENST00000564831.6	protein_coding	2/4	1129/3792	1090/3294	364/1097	INFO_REALIGN_3_PRIME	chr16	TogoVar
APOL4_chr22_36184128_36206809	36191797	ACT ACT	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00323.hp2 HG00621.hp2 others(126): Show HG00140.hp1 HG00323.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02922.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18968.hp1 NA18969.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19055.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp2 NA20805.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0005 others(2): Show a0002c0002 a0002c0003 a0002c0005 a0002c0009 a0002c0010	a0002c0002t0002 a0002c0002t0023 a0002c0002t0029 others(13): Show a0002c0002t0002 a0002c0002t0023 a0002c0002t0029 a0002c0002t0031 a0002c0002t0032 a0002c0003t0003 a0002c0003t0011 a0002c0003t0019 a0002c0003t0020 a0002c0003t0021 a0002c0003t0022 a0002c0005t0005 a0002c0005t0016 a0002c0005t0030 a0002c0009t0003 a0002c0010t0003	a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0011 others(63): Show a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0015 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0034 a0002c0002t0002g0038 a0002c0002t0002g0040 a0002c0002t0002g0045 a0002c0002t0002g0059 a0002c0002t0002g0066 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0082 a0002c0002t0002g0093 a0002c0002t0002g0101 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0121 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0147 a0002c0002t0002g0158 a0002c0002t0023g0074 a0002c0002t0029g0090 a0002c0002t0031g0083 a0002c0002t0032g0141 a0002c0003t0003g0004 a0002c0003t0003g0009 a0002c0003t0003g0047 a0002c0003t0003g0092 a0002c0003t0003g0096 a0002c0003t0003g0099 a0002c0003t0003g0100 a0002c0003t0003g0102 a0002c0003t0003g0103 a0002c0003t0003g0127 a0002c0003t0003g0128 a0002c0003t0003g0139 a0002c0003t0003g0148 a0002c0003t0003g0164 a0002c0003t0011g0037 a0002c0003t0011g0172 a0002c0003t0019g0064 a0002c0003t0020g0098 a0002c0003t0021g0112 a0002c0003t0022g0086 a0002c0005t0005g0007 a0002c0005t0005g0031 a0002c0005t0005g0046 a0002c0005t0005g0063 a0002c0005t0005g0138 a0002c0005t0005g0159 a0002c0005t0005g0162 a0002c0005t0005g0184 a0002c0005t0005g0185 a0002c0005t0016g0053 a0002c0005t0030g0109 a0002c0009t0003g0019 a0002c0009t0003g0179 a0002c0010t0003g0020	129	432	0.2986	-2	c.323 others(9): Show c.323_324delAG	p.Glu others(5): Show p.Glu108fs	APOL4	ENSG00000100336.18	transcript	ENST00000683024.1	protein_coding	4/4	399/3069	323/1047	108/348		chr22	TogoVar
APOL5_chr22_35712872_35734483	35726647	AAGCAATT others(7): Show AAGCAATTCAGCAGC	A A	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0001 a0012c0016t0001g0001	1	400	0.0025	-14	c.581 others(21): Show c.581_594delGCAATTCAGCAGCA	p.Ser others(5): Show p.Ser194fs	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding	3/5	581/1438	581/1302	194/433	INFO_REALIGN_3_PRIME	chr22	TogoVar
AQP12B_chr2_240671418_240687885	240682382	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG02622.hp1 NA18906.hp2 NA18974.hp2 others(1): Show HG02622.hp1 NA18906.hp2 NA18974.hp2 NA19059.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0025 a0006c0006t0002g0075 a0006c0006t0002g0076 a0006c0006t0002g0025 a0006c0006t0002g0075 a0006c0006t0002g0076	4	178	0.0225	-1	c.455 others(4): Show c.455delG	p.Ser others(5): Show p.Ser152fs	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding	1/3	503/1099	455/924	152/307		chr2	TogoVar
AQP5_chr12_49956872_49970682	49962144	C C	CGACGGCC others(28): Show CGACGGCCACTTCGGCAGGGCCGAGCCCAGGCCCAA	frameshift_variant frameshift_variant	HIGH	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0116 a0003c0009t0001g0116	1	464	0.0022	35	c.127 others(42): Show c.127_128insGACGGCCACTTCGGCAGGGCCGAGCCCAGGCCCAA	p.Leu others(4): Show p.Leu43fs	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	274/1449	128/798	43/265		chr12	TogoVar
AQP5_chr12_49956872_49970682	49962252	GGCAACCA others(4): Show GGCAACCAGATC	G G	frameshift_variant frameshift_variant	HIGH	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0116 a0003c0009t0001g0116	1	464	0.0022	-11	c.236 others(18): Show c.236_246delGCAACCAGATC	p.Gly others(4): Show p.Gly79fs	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	382/1449	236/798	79/265		chr12	TogoVar
AQP7B_chr2_94582311_94609628	94604251	TCAGCCCC others(55): Show TCAGCCCCCTCAGCAGGCCTCTGCCTCTTGCCTGCAGCGATGGGGAGAAC TGGTGGTGGGTGC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00438.hp1 HG00438.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0169 a0007c0010t0001g0169	1	382	0.0026	-62	c.756 others(72): Show c.756-33_784delCCCCCTCAGCAGGCCTCTGCCTCTTGCCTGCAGCG ATGGGGAGAACTGGTGGTGGGTGCCAG	p.Asp others(5): Show p.Asp253fs	AQP7B	ENSG00000259916.2	transcript	ENST00000561882.2	protein_coding	8/8		756/1041	252/346	INFO_REALIGN_3_PRIME	chr2	TogoVar
ARAP3_chr5_141648402_141687230	141658466	AGGGTTGG others(9): Show AGGGTTGGGGACACCTG	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18965.hp2 NA18965.hp2	a0020 a0020	a0020c0032 a0020c0032	a0020c0032t0001 a0020c0032t0001	a0020c0032t0001g0124 a0020c0032t0001g0124	1	414	0.0024	-16	c.341 others(27): Show c.3412-3_3424delCAGGTGTCCCCAACCC	p.Val others(6): Show p.Val1138fs	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	25/33	3499/5258	3412/4635	1138/1544		chr5	TogoVar
ARC_chr8_142606049_142619479	142613744	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG01099.hp2 HG01192.hp1 others(7): Show HG00408.hp1 HG01099.hp2 HG01192.hp1 NA18949.hp2 NA18956.hp1 NA18959.hp2 NA18981.hp1 NA19000.hp2 NA19054.hp2 NA19068.hp1	a0002 a0002	a0002c0003 a0002c0008 a0002c0003 a0002c0008	a0002c0003t0001 a0002c0003t0002 a0002c0008t0003 a0002c0003t0001 a0002c0003t0002 a0002c0008t0003	a0002c0003t0001g0010 a0002c0003t0002g0018 a0002c0008t0003g0020 a0002c0003t0001g0010 a0002c0003t0002g0018 a0002c0008t0003g0020	10	417	0.0240	1	c.527 others(4): Show c.527dupC	p.Pro others(5): Show p.Pro177fs	ARC	ENSG00000198576.4	transcript	ENST00000356613.4	protein_coding	1/3	735/2950	527/1191	176/396		chr8	TogoVar
ARFGAP1_chr20_63267813_63294790	63278938	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00423.hp2 HG00621.hp1 HG00741.hp1 others(9): Show HG00423.hp2 HG00621.hp1 HG00741.hp1 HG01106.hp1 HG01258.hp1 HG01952.hp2 HG02300.hp2 HG02572.hp2 HG03209.hp2 HG04204.hp1 NA19067.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0018 a0002c0002t0001 a0002c0002t0018	a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0004 others(8): Show a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0076 a0002c0002t0001g0086 a0002c0002t0001g0101 a0002c0002t0001g0107 a0002c0002t0001g0128 a0002c0002t0001g0209 a0002c0002t0018g0067	12	340	0.0353	1	c.572 others(4): Show c.572dupC	p.Pro others(5): Show p.Pro192fs	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding	7/13	685/3250	573/1221	191/406	INFO_REALIGN_3_PRIME	chr20	TogoVar
ARHGAP23_chr17_38423464_38517385	38466571	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00741.hp2 HG01361.hp1 HG02738.hp2 others(5): Show HG00741.hp2 HG01361.hp1 HG02738.hp2 NA18985.hp1 NA19043.hp1 NA19062.hp1 NA19062.hp2 NA19090.hp1	a0002 a0002	a0002c0015 a0002c0022 a0002c0023 others(2): Show a0002c0015 a0002c0022 a0002c0023 a0002c0035 a0002c0036	a0002c0015t0001 a0002c0022t0001 a0002c0022t0010 others(3): Show a0002c0015t0001 a0002c0022t0001 a0002c0022t0010 a0002c0023t0001 a0002c0035t0001 a0002c0036t0003	a0002c0015t0001g0189 a0002c0015t0001g0240 a0002c0022t0001g0097 others(5): Show a0002c0015t0001g0189 a0002c0015t0001g0240 a0002c0022t0001g0097 a0002c0022t0010g0253 a0002c0023t0001g0180 a0002c0023t0001g0236 a0002c0035t0001g0234 a0002c0036t0003g0179	8	308	0.0260	1	c.892 others(4): Show c.892dupC	p.Arg others(5): Show p.Arg298fs	ARHGAP23	ENSG00000275832.5	transcript	ENST00000622683.5	protein_coding	7/24	915/5911	893/4476	298/1491	INFO_REALIGN_3_PRIME	chr17	TogoVar
ARHGAP26_chr5_142765377_143234007	142913196	T T	TAGGGAGA others(9): Show TAGGGAGAAGATGAATC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0061 a0001c0003t0004g0061	1	196	0.0051	16	c.934 others(23): Show c.934_949dupGGAGAAGATGAATCAG	p.Val others(5): Show p.Val317fs	ARHGAP26	ENSG00000145819.18	transcript	ENST00000645722.2	protein_coding	10/23	1335/9226	950/2280	317/759	INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGAP33_chr19_35770564_35793822	35787193	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00621.hp2 HG03098.hp1 HG03927.hp2 others(6): Show HG00621.hp2 HG03098.hp1 HG03927.hp2 NA18949.hp1 NA18951.hp1 NA19000.hp1 NA19067.hp2 NA19086.hp1 NA19090.hp2	a0002 a0016 a0002 a0016	a0002c0011 a0002c0013 a0002c0014 others(2): Show a0002c0011 a0002c0013 a0002c0014 a0002c0036 a0016c0020	a0002c0011t0001 a0002c0013t0001 a0002c0014t0001 others(2): Show a0002c0011t0001 a0002c0013t0001 a0002c0014t0001 a0002c0036t0001 a0016c0020t0001	a0002c0011t0001g0003 a0002c0011t0001g0065 a0002c0013t0001g0005 others(4): Show a0002c0011t0001g0003 a0002c0011t0001g0065 a0002c0013t0001g0005 a0002c0014t0001g0002 a0002c0014t0001g0015 a0002c0036t0001g0012 a0016c0020t0001g0074	9	418	0.0215	1	c.263 others(5): Show c.2633dupC	p.Pro others(5): Show p.Pro879fs	ARHGAP33	ENSG00000004777.19	transcript	ENST00000007510.9	protein_coding	21/21	2729/4352	2634/3864	878/1287	INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF5_chr7_144350402_144385632	144362670	A A	ATGGAGGC others(15): Show ATGGAGGCTGAGGAGGCCCAGCG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01496.hp1 HG01884.hp2 NA18951.hp1 others(6): Show HG01496.hp1 HG01884.hp2 NA18951.hp1 NA18977.hp1 NA18985.hp1 NA18986.hp2 NA19012.hp2 NA19055.hp1 NA19084.hp1	a0009 a0009	a0009c0026 a0009c0070 a0009c0071 others(5): Show a0009c0026 a0009c0070 a0009c0071 a0009c0072 a0009c0073 a0009c0074 a0009c0075 a0009c0076	a0009c0026t0001 a0009c0070t0001 a0009c0071t0001 others(5): Show a0009c0026t0001 a0009c0070t0001 a0009c0071t0001 a0009c0072t0001 a0009c0073t0001 a0009c0074t0001 a0009c0075t0002 a0009c0076t0001	a0009c0026t0001g0051 a0009c0026t0001g0052 a0009c0070t0001g0175 others(6): Show a0009c0026t0001g0051 a0009c0026t0001g0052 a0009c0070t0001g0175 a0009c0071t0001g0173 a0009c0072t0001g0056 a0009c0073t0001g0055 a0009c0074t0001g0054 a0009c0075t0002g0174 a0009c0076t0001g0053	9	286	0.0315	22	c.7_2 others(26): Show c.7_28dupGCTGAGGAGGCCCAGCGTGGAG	p.Ala others(4): Show p.Ala10fs	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	141/5482	29/4794	10/1597	INFO_REALIGN_3_PRIME	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144365108	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00423.hp2 HG00597.hp2 HG00673.hp1 others(14): Show HG00423.hp2 HG00597.hp2 HG00673.hp1 HG00741.hp2 HG01243.hp1 HG02027.hp1 HG02109.hp2 HG02738.hp1 HG03516.hp1 HG03927.hp2 NA18944.hp2 NA18977.hp2 NA18985.hp1 NA19012.hp1 NA19083.hp1 NA19083.hp2 NA19240.hp2	a0009 a0015 a0018 others(11): Show a0009 a0015 a0018 a0020 a0021 a0023 a0025 a0029 a0034 a0037 a0040 a0044 a0046 a0047	a0009c0073 a0015c0019 a0018c0054 others(12): Show a0009c0073 a0015c0019 a0018c0054 a0018c0065 a0020c0024 a0021c0057 a0023c0050 a0025c0046 a0029c0040 a0034c0029 a0037c0028 a0040c0056 a0044c0068 a0046c0060 a0047c0031	a0009c0073t0001 a0015c0019t0002 a0018c0054t0001 others(12): Show a0009c0073t0001 a0015c0019t0002 a0018c0054t0001 a0018c0065t0001 a0020c0024t0001 a0021c0057t0001 a0023c0050t0001 a0025c0046t0002 a0029c0040t0002 a0034c0029t0001 a0037c0028t0001 a0040c0056t0001 a0044c0068t0001 a0046c0060t0001 a0047c0031t0003	a0009c0073t0001g0055 a0015c0019t0002g0002 a0015c0019t0002g0005 others(14): Show a0009c0073t0001g0055 a0015c0019t0002g0002 a0015c0019t0002g0005 a0018c0054t0001g0033 a0018c0065t0001g0148 a0020c0024t0001g0025 a0020c0024t0001g0091 a0021c0057t0001g0031 a0023c0050t0001g0030 a0025c0046t0002g0015 a0029c0040t0002g0002 a0034c0029t0001g0001 a0037c0028t0001g0017 a0040c0056t0001g0082 a0044c0068t0001g0145 a0046c0060t0001g0168 a0047c0031t0003g0038	17	286	0.0594	1	c.244 others(5): Show c.2444dupC	p.Thr others(5): Show p.Thr816fs	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	2557/5482	2445/4794	815/1597	INFO_REALIGN_3_PRIME	chr7	TogoVar
ARL13B_chr3_93975155_94060678	94043038	G G	GA GA	frameshift_variant frameshift_variant	HIGH	HG00438.hp2 HG00733.hp2 HG01175.hp1 others(14): Show HG00438.hp2 HG00733.hp2 HG01175.hp1 HG01175.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01952.hp2 HG02622.hp1 HG02717.hp2 HG03209.hp1 HG03239.hp2 HG03831.hp1 HG03927.hp2 NA18906.hp1 NA19030.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0006 a0003c0003 a0003c0006	a0003c0003t0001 a0003c0003t0006 a0003c0006t0001 a0003c0003t0001 a0003c0003t0006 a0003c0006t0001	a0003c0003t0001g0037 a0003c0003t0001g0044 a0003c0003t0001g0089 others(14): Show a0003c0003t0001g0037 a0003c0003t0001g0044 a0003c0003t0001g0089 a0003c0003t0001g0099 a0003c0003t0001g0145 a0003c0003t0001g0162 a0003c0003t0001g0172 a0003c0003t0001g0176 a0003c0003t0001g0186 a0003c0003t0001g0190 a0003c0003t0001g0194 a0003c0003t0001g0207 a0003c0003t0001g0222 a0003c0003t0001g0228 a0003c0003t0001g0238 a0003c0003t0006g0073 a0003c0006t0001g0006	17	261	0.0651	1	c.830 others(4): Show c.830dupA	p.Asn others(5): Show p.Asn277fs	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/10	1100/3971	831/1287	277/428	INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL5C_chr17_39151894_39171161	39160713	A A	AAATATCA others(6): Show AAATATCAGGACTG	frameshift_variant frameshift_variant	HIGH	NA19067.hp2 NA19067.hp2	a0013 a0013	a0013c0010 a0013c0010	a0013c0010t0001 a0013c0010t0001	a0013c0010t0001g0067 a0013c0010t0001g0067	1	408	0.0025	13	c.356 others(20): Show c.356_368dupCAGTCCTGATATT	p.Ala others(5): Show p.Ala124fs	ARL5C	ENSG00000141748.13	transcript	ENST00000269586.12	protein_coding	5/6	769/941	368/540	123/179		chr17	TogoVar
ARL6IP4_chr12_122975681_122987909	122981819	C C	CTGCCGGG others(16): Show CTGCCGGGCCCCTCGCTGGACCAG	frameshift_variant frameshift_variant	HIGH	NA18974.hp2 NA18974.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0001 a0005c0006t0001g0001	1	354	0.0028	23	c.412 others(30): Show c.412_434dupCCGGGCCCCTCGCTGGACCAGTG	p.Trp others(5): Show p.Trp145fs	ARL6IP4	ENSG00000182196.14	transcript	ENST00000315580.10	protein_coding	3/6	511/1023	435/714	145/237	INFO_REALIGN_3_PRIME	chr12	TogoVar
ARL9_chr4_56500791_56529453	56505976	TAAAC TAAAC	T T	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(58): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG01261.hp2 HG02015.hp2 HG02080.hp2 HG02109.hp2 HG02523.hp2 HG02559.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18969.hp1 NA18972.hp2 NA18977.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18994.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19055.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19080.hp2 NA19084.hp1 NA19085.hp2 NA19089.hp2 NA19091.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0007 a0003c0003 a0003c0007	a0003c0003t0001 a0003c0003t0004 a0003c0007t0001 a0003c0003t0001 a0003c0003t0004 a0003c0007t0001	a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0015 others(39): Show a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0015 a0003c0003t0001g0023 a0003c0003t0001g0049 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0215 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0244 a0003c0003t0001g0248 a0003c0003t0001g0249 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0258 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0266 a0003c0003t0001g0267 a0003c0003t0001g0273 a0003c0003t0004g0254 a0003c0003t0004g0255 a0003c0007t0001g0023 a0003c0007t0001g0158 a0003c0007t0001g0192 a0003c0007t0001g0198 a0003c0007t0001g0235 a0003c0007t0001g0259	61	414	0.1473	-4	c.118 others(11): Show c.118_121delCAAA	p.Gln others(4): Show p.Gln40fs	ARL9	ENSG00000196503.5	transcript	ENST00000640821.3	protein_coding	1/4	190/1447	118/798	40/265	INFO_REALIGN_3_PRIME	chr4	TogoVar
ARL9_chr4_56500791_56529453	56506057	CAA CAA	C C	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG00735.hp1 HG00741.hp1 others(6): Show HG00323.hp1 HG00735.hp1 HG00741.hp1 HG01175.hp1 HG01346.hp2 HG01433.hp2 HG02148.hp2 NA18951.hp1 NA19055.hp1	a0006 a0006	a0006c0006 a0006c0012 a0006c0006 a0006c0012	a0006c0006t0001 a0006c0012t0001 a0006c0006t0001 a0006c0012t0001	a0006c0006t0001g0013 a0006c0006t0001g0151 a0006c0006t0001g0187 others(4): Show a0006c0006t0001g0013 a0006c0006t0001g0151 a0006c0006t0001g0187 a0006c0006t0001g0188 a0006c0006t0001g0204 a0006c0012t0001g0115 a0006c0012t0001g0116	9	414	0.0217	-2	c.197 others(9): Show c.197_198delAA	p.Lys others(4): Show p.Lys66fs	ARL9	ENSG00000196503.5	transcript	ENST00000640821.3	protein_coding	1/4	269/1447	197/798	66/265	INFO_REALIGN_3_PRIME	chr4	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(420): Show GGGGCTGAGGCTGGGGCTGGGGGTTGGGGCTGGGGTTGGGGCTGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGA GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGG CTGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCT GGGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGG GGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGG CTGGGGCTGAGGCTGGGGGCTGAGGCTC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18953.hp1 NA18953.hp1	a0033 a0033	a0033c0047 a0033c0047	a0033c0047t0003 a0033c0047t0003	a0033c0047t0003g0002 a0033c0047t0003g0002	1	3	0.3333	427	c.546 others(436): Show c.5461_5462insGTTGGGGCTGGGGTTGGGGCTGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGG CTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTT GGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAG GGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGG CTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCT GAGGCTGGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Ala others(6): Show p.Ala1821fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(408): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGGCTGGGGCTGAGGCTG AGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGG ACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGC TGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTG GGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGG GCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGC TGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTC GGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAG GCTGGGGCTGAGGCTC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18961.hp1 NA18961.hp1	a0034 a0034	a0034c0038 a0034c0038	a0034c0038t0002 a0034c0038t0002	a0034c0038t0002g0001 a0034c0038t0002g0001	1	3	0.3333	415	c.546 others(424): Show c.5461_5462insTTGGGGCTGGGGGCTGGGGCTGAGGCTGAGGCTGGG GCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGC TGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTG GGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAG GCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGAC TGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTG AGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAG GCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGC TGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Ala others(6): Show p.Ala1821fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(418): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCG GGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAG GCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGC TGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTG GGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGG GCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGC TGGGGCTGAGGCTGGGGCTGAGGCTC	frameshift_variant frameshift_variant	HIGH	NA18976.hp2 NA18976.hp2	a0036 a0036	a0036c0048 a0036c0048	a0036c0048t0001 a0036c0048t0001	a0036c0048t0001g0002 a0036c0048t0001g0002	1	3	0.3333	425	c.546 others(434): Show c.5461_5462insTTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCGGGGCTGGG GCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGC TGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTG GGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGG GCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGC TCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTG AGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Ala others(6): Show p.Ala1821fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(418): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGCTTGGGGCTGA GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGG CTGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGCTGAGGCTG GGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGG GCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGC TGGGGCTGAGGCTGGGGCTGAGGCTC	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0041 a0041	a0041c0050 a0041c0050	a0041c0050t0001 a0041c0050t0001	a0041c0050t0001g0002 a0041c0050t0001g0002	1	3	0.3333	425	c.546 others(434): Show c.5461_5462insTTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GGCTGGGGCTGGGGCTGGGACTGAGGCTGGGCTTGGGGCTGAGGCTGGGG CTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTT GGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGCTGAGGCTGGGGCTAGG GCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGC TCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTG AGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Ala others(6): Show p.Ala1821fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(420): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGA GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGG CTGAGGTTGGGGCTGGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGC TGGGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTG GGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGG GCTGGGGCTGAGGCTGGGGCTGAGGCTC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18977.hp1 NA18977.hp1	a0037 a0037	a0037c0055 a0037c0055	a0037c0055t0001 a0037c0055t0001	a0037c0055t0001g0003 a0037c0055t0001g0003	1	3	0.3333	427	c.546 others(436): Show c.5461_5462insTTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGG CTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTT GGGGCTGGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTA GGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAG GCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGC TGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Ala others(6): Show p.Ala1821fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARPC3_chr12_110429823_110455337	110436200	CACTTCTA others(6): Show CACTTCTAAAACAG	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0141 a0002c0002t0001g0141	1	332	0.0030	-13	c.380 others(22): Show c.380-9_383delCTGTTTTAGAAGT	p.Glu others(5): Show p.Glu127fs	ARPC3	ENSG00000111229.16	transcript	ENST00000228825.12	protein_coding	6/7	460/946	380/537	127/178		chr12	TogoVar
AR_chrX_67539021_67735619	67546509	GGTGGTGG others(4): Show GGTGGTGGCGGC	G G	frameshift_variant frameshift_variant	HIGH	HG02818.hp2 HG02818.hp2	a0016 a0016	a0016c0027 a0016c0027	a0016c0027t0010 a0016c0027t0010	a0016c0027t0010g0171 a0016c0027t0010g0171	1	191	0.0052	-11	c.136 others(20): Show c.1365_1375delTGGTGGCGGCG	p.Gly others(5): Show p.Gly456fs	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	2491/10667	1365/2763	455/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AS3MT_chr10_102864470_102906899	102869497	TCCTGAGT others(29): Show TCCTGAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGC	T T	frameshift_variant others(2): Show frameshift_variant start_lost splice_region_variant	HIGH	HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show HG00099.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0002c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(25): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0002t0004 a0001c0002t0017 a0001c0002t0018 a0001c0002t0022 a0001c0003t0004 a0001c0004t0007 a0001c0006t0006 a0001c0007t0004 a0001c0008t0003 a0001c0011t0002 a0002c0012t0006	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0013 others(158): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0112 a0001c0001t0003g0179 a0001c0001t0004g0040 a0001c0001t0006g0028 a0001c0001t0006g0110 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0167 a0001c0001t0006g0168 a0001c0001t0006g0171 a0001c0001t0006g0172 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0007g0002 a0001c0001t0007g0014 a0001c0001t0007g0016 a0001c0001t0007g0113 a0001c0001t0007g0120 a0001c0001t0007g0121 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0128 a0001c0001t0007g0138 a0001c0001t0007g0139 a0001c0001t0008g0009 a0001c0001t0008g0047 a0001c0001t0008g0048 a0001c0001t0008g0055 a0001c0001t0008g0056 a0001c0001t0008g0058 a0001c0001t0008g0060 a0001c0001t0008g0061 a0001c0001t0008g0062 a0001c0001t0010g0080 a0001c0001t0010g0125 a0001c0001t0010g0148 a0001c0001t0010g0242 a0001c0001t0010g0247 a0001c0001t0010g0253 a0001c0001t0010g0254 a0001c0001t0012g0002 a0001c0001t0012g0004 a0001c0001t0012g0127 a0001c0001t0012g0134 a0001c0001t0012g0152 a0001c0001t0014g0001 a0001c0001t0014g0072 a0001c0001t0014g0090 a0001c0001t0015g0057 a0001c0001t0015g0063 a0001c0001t0019g0170 a0001c0001t0020g0173 a0001c0001t0021g0029 a0001c0001t0023g0059 a0001c0001t0024g0009 a0001c0001t0028g0011 a0001c0001t0029g0255 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0064 a0001c0002t0004g0065 a0001c0002t0004g0066 a0001c0002t0004g0068 a0001c0002t0004g0069 a0001c0002t0017g0043 a0001c0002t0018g0044 a0001c0002t0022g0067 a0001c0003t0004g0049 a0001c0004t0007g0164 a0001c0006t0006g0178 a0001c0007t0004g0033 a0001c0008t0003g0085 a0001c0011t0002g0143 a0002c0012t0006g0169	173	352	0.4915	-36	c.-19 others(44): Show c.-19_1+16delAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGCCCTG	p.Met others(3): Show p.Met1fs	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	1/11	105/2450	1/1128	1/375	INFO_REALIGN_3_PRIME	chr10	TogoVar
ASB6_chr9_129629605_129647151	129637966	AGAAGTGG others(48): Show AGAAGTGGAGGGCCTGGATCTTTTCCGCCAGGCTGCCCACAGGGTGGATA TCGAAG	A A	frameshift_variant frameshift_variant	HIGH	HG02922.hp1 HG02922.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0003 a0005c0010t0003	a0005c0010t0003g0036 a0005c0010t0003g0036	1	420	0.0024	-55	c.103 others(64): Show c.1035_1089delCTTCGATATCCACCCTGTGGGCAGCCTGGCGGAAAA GATCCAGGCCCTCCACTTC	p.Phe others(5): Show p.Phe346fs	ASB6	ENSG00000148331.12	transcript	ENST00000277458.5	protein_coding	6/6	1241/4603	1035/1266	345/421		chr9	TogoVar
ASH2L_chr8_38100529_38145080	38119321	AGCAGGAT others(4): Show AGCAGGATGGAG	A A	frameshift_variant frameshift_variant	HIGH	NA20129.hp2 NA20129.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0223 a0005c0009t0001g0223	1	328	0.0030	-11	c.907 others(18): Show c.907_917delCAGGATGGAGG	p.Gln others(5): Show p.Gln303fs	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	9/16	929/2918	907/1887	303/628	INFO_REALIGN_3_PRIME	chr8	TogoVar
ASMTL_chrX_1398139_1457909	1403270	CA CA	C C	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG00323.hp2 HG00733.hp1 HG01070.hp2 others(8): Show HG00323.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01257.hp1 HG02004.hp2 HG02165.hp2 HG02615.hp1 HG02683.hp1 NA18971.hp2 NA19081.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0003 a0002c0038 a0003c0027 others(1): Show a0002c0003 a0002c0038 a0003c0027 a0004c0007	a0002c0003t0002 a0002c0038t0002 a0003c0027t0002 others(1): Show a0002c0003t0002 a0002c0038t0002 a0003c0027t0002 a0004c0007t0002	a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0042 others(8): Show a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0062 a0002c0003t0002g0090 a0002c0003t0002g0094 a0002c0003t0002g0129 a0002c0038t0002g0071 a0003c0027t0002g0027 a0004c0007t0002g0072	11	183	0.0601	-1	c.186 others(5): Show c.1864delT	p.Ter others(5): Show p.Ter622fs	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	13/13	1933/2065	1864/1866	622/621		chrX	TogoVar
ASMT_chrX_1610059_1648081	1633238	GGCAAAGC others(16): Show GGCAAAGCAGCACTTCTCATTCCA	G G	frameshift_variant frameshift_variant	HIGH	NA18963.hp1 NA18963.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0108 a0008c0010t0001g0108	1	220	0.0045	-23	c.737 others(30): Show c.737_759delCAAAGCAGCACTTCTCATTCCAG	p.Ala others(5): Show p.Ala246fs	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	7/9	878/1330	737/1122	246/373	INFO_REALIGN_3_PRIME	chrX	TogoVar
ASTL_chr2_96117818_96143502	96123863	AT AT	A A	frameshift_variant frameshift_variant	HIGH	HG01884.hp1 HG02109.hp2 HG02257.hp1 others(7): Show HG01884.hp1 HG02109.hp2 HG02257.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03516.hp2 HG03579.hp2 NA20129.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	10	394	0.0254	-1	c.128 others(5): Show c.1282delA	p.Met others(5): Show p.Met428fs	ASTL	ENSG00000188886.4	transcript	ENST00000342380.3	protein_coding	9/9	1348/2394	1282/1296	428/431		chr2	TogoVar
ATAD3B_chr1_1466765_1502848	1472036	ACCCCACC others(36): Show ACCCCACCGGCCTGGAGCGCGCCGCCAAGGCGGCGCGCGAGCTG	A A	frameshift_variant frameshift_variant	HIGH	NA18959.hp2 NA18959.hp2	a0023 a0023	a0023c0036 a0023c0036	a0023c0036t0001 a0023c0036t0001	a0023c0036t0001g0003 a0023c0036t0001g0003	1	274	0.0036	-43	c.153 others(50): Show c.153_195delCCCCACCGGCCTGGAGCGCGCCGCCAAGGCGGCGCGCG AGCTG	p.Asp others(4): Show p.Asp51fs	ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	1/16	273/4098	153/1947	51/648		chr1	TogoVar
ATAT1_chr6_30621874_30651821	30642841	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00738.hp1 HG00741.hp2 HG01109.hp2 others(13): Show HG00738.hp1 HG00741.hp2 HG01109.hp2 HG01175.hp1 HG01496.hp1 HG01978.hp1 HG01978.hp2 HG02056.hp2 HG02293.hp2 HG02523.hp1 HG03927.hp1 NA18985.hp2 NA19002.hp2 NA19030.hp1 NA19067.hp1 NA19090.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0001 a0002c0005t0001 a0002c0003t0001 a0002c0005t0001	a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0005 others(11): Show a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0005 a0002c0003t0001g0006 a0002c0003t0001g0027 a0002c0003t0001g0044 a0002c0003t0001g0059 a0002c0003t0001g0106 a0002c0003t0001g0142 a0002c0003t0001g0152 a0002c0005t0001g0036 a0002c0005t0001g0062 a0002c0005t0001g0066 a0002c0005t0001g0072	16	404	0.0396	1	c.805 others(4): Show c.805dupC	p.Arg others(5): Show p.Arg269fs	ATAT1	ENSG00000137343.18	transcript	ENST00000376485.9	protein_coding	10/13	818/1456	806/1266	269/421	INFO_REALIGN_3_PRIME	chr6	TogoVar
ATG2A_chr11_64889546_64922209	64898769	T T	TCCCCATA others(4): Show TCCCCATACTAC	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0032 a0032	a0032c0045 a0032c0045	a0032c0045t0001 a0032c0045t0001	a0032c0045t0001g0143 a0032c0045t0001g0143	1	370	0.0027	11	c.453 others(20): Show c.4537_4538insGTAGTATGGGG	p.Glu others(6): Show p.Glu1513fs	ATG2A	ENSG00000110046.14	transcript	ENST00000377264.8	protein_coding	32/41	4611/6318	4537/5817	1513/1938		chr11	TogoVar
ATG2A_chr11_64889546_64922209	64913121	G G	GCTCTGGA others(7): Show GCTCTGGAGGCTCTT	frameshift_variant frameshift_variant	HIGH	NA18951.hp1 NA18951.hp1	a0029 a0029	a0029c0036 a0029c0036	a0029c0036t0001 a0029c0036t0001	a0029c0036t0001g0128 a0029c0036t0001g0128	1	370	0.0027	14	c.728 others(21): Show c.728_741dupAAGAGCCTCCAGAG	p.Pro others(5): Show p.Pro248fs	ATG2A	ENSG00000110046.14	transcript	ENST00000377264.8	protein_coding	6/41	815/6318	741/5817	247/1938		chr11	TogoVar
ATG9B_chr7_151010151_151029494	151018672	CCACGGCT others(49): Show CCACGGCTAGCACGTCCTCGTCGTAGACGGTGAGCACAAGCAGCGCGGCG AAGAGTG	C C	frameshift_variant frameshift_variant	HIGH	HG03516.hp1 HG03516.hp1	a0021 a0021	a0021c0026 a0021c0026	a0021c0026t0001 a0021c0026t0001	a0021c0026t0001g0064 a0021c0026t0001g0064	1	464	0.0022	-56	c.161 others(65): Show c.1610_1665delCACTCTTCGCCGCGCTGCTTGTGCTCACCGTCTACG ACGAGGACGTGCTAGCCGTG	p.Ala others(5): Show p.Ala537fs	ATG9B	ENSG00000181652.20	transcript	ENST00000639579.2	protein_coding	6/14	1736/3423	1610/2775	537/924		chr7	TogoVar
ATP1A1_chr1_116368244_116409774	116398906	AGTAAAAA others(16): Show AGTAAAAAATCTTGGTTTTCATAG	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0068 a0001c0003t0002g0068	1	334	0.0030	-23	c.229 others(35): Show c.2294-21_2295delAAAAAATCTTGGTTTTCATAGGT	p.Gly others(5): Show p.Gly765fs	ATP1A1	ENSG00000163399.16	transcript	ENST00000295598.10	protein_coding	17/23		2294/3072	765/1023	INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP1B4_chrX_120357089_120388237	120366735	T T	TACCTGTG others(7): Show TACCTGTGGGATCCA	frameshift_variant frameshift_variant	HIGH	NA18987.hp2 NA18987.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0126 a0006c0005t0001g0126	1	351	0.0028	14	c.275 others(21): Show c.275_288dupACCTGTGGGATCCA	p.Glu others(4): Show p.Glu97fs	ATP1B4	ENSG00000101892.12	transcript	ENST00000218008.8	protein_coding	2/8	369/4757	289/1074	97/357	INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP2A1_chr16_28873488_28909466	28902839	TCGAGGCC others(31): Show TCGAGGCCCCCGAGCCCATGACCATGGCCCTGTCCGTGC	T T	frameshift_variant frameshift_variant	HIGH	NA18948.hp2 NA18948.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0212 a0008c0012t0001g0212	1	378	0.0026	-38	c.267 others(47): Show c.2673_2710delCGAGGCCCCCGAGCCCATGACCATGGCCCTGTCCGT GC	p.Glu others(5): Show p.Glu892fs	ATP2A1	ENSG00000196296.14	transcript	ENST00000395503.9	protein_coding	19/23	2857/3493	2673/2985	891/994		chr16	TogoVar
ATP4A_chr19_35545031_35568658	35562515	G G	GGCACTGC others(13): Show GGCACTGCAGGCCCCCGGCCA	frameshift_variant frameshift_variant	HIGH	HG02135.hp1 HG02135.hp1	a0007 a0007	a0007c0031 a0007c0031	a0007c0031t0001 a0007c0031t0001	a0007c0031t0001g0178 a0007c0031t0001g0178	1	424	0.0024	20	c.320 others(27): Show c.320_339dupTGGCCGGGGGCCTGCAGTGC	p.Leu others(5): Show p.Leu114fs	ATP4A	ENSG00000105675.9	transcript	ENST00000262623.4	protein_coding	4/22	368/3721	339/3108	113/1035		chr19	TogoVar
ATP4A_chr19_35545031_35568658	35563432	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01175.hp2 HG01346.hp2 HG01952.hp1 others(8): Show HG01175.hp2 HG01346.hp2 HG01952.hp1 HG02055.hp2 NA18978.hp1 NA18979.hp2 NA18984.hp2 NA19067.hp1 NA19067.hp2 NA19075.hp2 NA19078.hp2	a0003 a0003	a0003c0006 a0003c0011 a0003c0016 others(3): Show a0003c0006 a0003c0011 a0003c0016 a0003c0017 a0003c0018 a0003c0019	a0003c0006t0001 a0003c0011t0002 a0003c0016t0001 others(3): Show a0003c0006t0001 a0003c0011t0002 a0003c0016t0001 a0003c0017t0001 a0003c0018t0001 a0003c0019t0001	a0003c0006t0001g0071 a0003c0006t0001g0073 a0003c0006t0001g0074 others(7): Show a0003c0006t0001g0071 a0003c0006t0001g0073 a0003c0006t0001g0074 a0003c0006t0001g0075 a0003c0006t0001g0077 a0003c0011t0002g0039 a0003c0016t0001g0072 a0003c0017t0001g0069 a0003c0018t0001g0076 a0003c0019t0001g0070	11	424	0.0259	1	c.107 others(4): Show c.107dupG	p.Gly others(4): Show p.Gly37fs	ATP4A	ENSG00000105675.9	transcript	ENST00000262623.4	protein_coding	2/22	136/3721	107/3108	36/1035		chr19	TogoVar
ATXN2L_chr16_28817999_28842232	28835078	T T	TCAGAGCA others(42): Show TCAGAGCAACCCACGCATGCTGACGTCGGGCAGCCATCCCCAGGCCATCG	frameshift_variant frameshift_variant	HIGH	HG03579.hp1 HG03579.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0007 a0007c0017t0007	a0007c0017t0007g0091 a0007c0017t0007g0091	1	380	0.0026	49	c.245 others(58): Show c.2455_2503dupCAGAGCAACCCACGCATGCTGACGTCGGGCAGCCAT CCCCAGGCCATCG	p.Val others(5): Show p.Val835fs	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	19/22	2765/4456	2504/3228	835/1075	INFO_REALIGN_3_PRIME	chr16	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCGCTGC others(34): Show CGCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	frameshift_variant frameshift_variant	HIGH	HG02738.hp2 HG02738.hp2	a0037 a0037	a0037c0053 a0037c0053	a0037c0053t0042 a0037c0053t0042	a0037c0053t0042g0108 a0037c0053t0042g0108	1	286	0.0035	41	c.916 others(48): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CGC	p.Gly others(5): Show p.Gly306fs	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CTGCTGCT others(13): Show CTGCTGCTGCTGCTGCTGCTG	frameshift_variant frameshift_variant	HIGH	NA20905.hp1 NA20905.hp1	a0045 a0045	a0045c0056 a0045c0056	a0045c0056t0001 a0045c0056t0001	a0045c0056t0001g0312 a0045c0056t0001g0312	1	102	0.0098	20	c.915 others(27): Show c.915_916insCAGCAGCAGCAGCAGCAGCA	p.Gly others(5): Show p.Gly306fs	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071034	G G	GCTGCTGC others(36): Show GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGT	frameshift_variant frameshift_variant	HIGH	NA18956.hp2 NA18956.hp2	a0041 a0041	a0041c0059 a0041c0059	a0041c0059t0001 a0041c0059t0001	a0041c0059t0001g0285 a0041c0059t0001g0285	1	400	0.0025	43	c.891 others(50): Show c.891_892insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC AGCAG	p.Gln others(5): Show p.Gln298fs	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	921/6884	891/1086	297/361		chr14	TogoVar
ATXN7L2_chr1_109478905_109497734	109487068	TGCCAGCT others(4): Show TGCCAGCTCTCA	T T	frameshift_variant frameshift_variant	HIGH	NA19062.hp2 NA19062.hp2	a0008 a0008	a0008c0003 a0008c0003	a0008c0003t0001 a0008c0003t0001	a0008c0003t0001g0002 a0008c0003t0001g0002	1	330	0.0030	-11	c.362 others(18): Show c.362_372delCCAGCTCTCAG	p.Ala others(5): Show p.Ala121fs	ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding	4/11	411/2448	362/2265	121/754	INFO_REALIGN_3_PRIME	chr1	TogoVar

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