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
A2ML1_chr12_8817621_8881787	8843328	AAG AAG	A A	frameshift_variant frameshift_variant	HIGH	HG01884.hp2 HG02559.hp2 HG02965.hp1 others(7): Show HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 NA19030.hp1 NA19240.hp1	a0007 a0017 a0007 a0017	a0007c0011 a0007c0015 a0017c0019 a0007c0011 a0007c0015 a0017c0019	a0007c0011t0002 a0007c0015t0003 a0007c0015t0004 others(1): Show a0007c0011t0002 a0007c0015t0003 a0007c0015t0004 a0017c0019t0002	a0007c0011t0002g0043 a0007c0011t0002g0076 a0007c0011t0002g0162 others(7): Show a0007c0011t0002g0043 a0007c0011t0002g0076 a0007c0011t0002g0162 a0007c0011t0002g0164 a0007c0015t0003g0026 a0007c0015t0003g0039 a0007c0015t0004g0276 a0017c0019t0002g0115 a0017c0019t0002g0157 a0017c0019t0002g0193	10	366	0.0273	-2	c.144 others(11): Show c.1444_1445delAG	p.Ser others(5): Show p.Ser482fs	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	12/36	1475/5127	1444/4365	482/1454		chr12	TogoVar
A2ML1_chr12_8817621_8881787	8863966	GGC GGC	G G	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG00642.hp2 HG01496.hp1 others(8): Show HG00280.hp2 HG00642.hp2 HG01496.hp1 HG01515.hp2 HG02015.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG03669.hp1 HG03704.hp2 HG04184.hp1	a0004 a0004	a0004c0006 a0004c0052 a0004c0006 a0004c0052	a0004c0006t0001 a0004c0052t0001 a0004c0006t0001 a0004c0052t0001	a0004c0006t0001g0002 a0004c0006t0001g0054 a0004c0006t0001g0056 others(7): Show a0004c0006t0001g0002 a0004c0006t0001g0054 a0004c0006t0001g0056 a0004c0006t0001g0068 a0004c0006t0001g0077 a0004c0006t0001g0108 a0004c0006t0001g0109 a0004c0006t0001g0224 a0004c0006t0001g0339 a0004c0052t0001g0234	11	366	0.0301	-2	c.367 others(11): Show c.3676_3677delGC	p.Ala others(6): Show p.Ala1226fs	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	29/36	3707/5127	3676/4365	1226/1454		chr12	TogoVar
ABCA10_chr17_69143007_69233824	69149049	TGA TGA	T T	frameshift_variant frameshift_variant	HIGH	HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show HG00609.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02148.hp2 HG02886.hp1 HG02895.hp1 HG03017.hp2 HG03490.hp2 HG03579.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 NA18612.hp2 NA18945.hp2 NA18965.hp1 NA18974.hp2 NA18985.hp2 NA18989.hp2 NA18993.hp2 NA19000.hp2 NA19002.hp2 NA19030.hp2 NA19060.hp2 NA19068.hp1 NA19074.hp1 NA19086.hp2 NA20752.hp1	a0004 a0004	a0004c0004 a0004c0006 a0004c0004 a0004c0006	a0004c0004t0003 a0004c0004t0011 a0004c0006t0003 others(1): Show a0004c0004t0003 a0004c0004t0011 a0004c0006t0003 a0004c0006t0011	a0004c0004t0003g0007 a0004c0004t0003g0010 a0004c0004t0003g0077 others(38): Show a0004c0004t0003g0007 a0004c0004t0003g0010 a0004c0004t0003g0077 a0004c0004t0003g0108 a0004c0004t0003g0144 a0004c0004t0003g0194 a0004c0004t0003g0208 a0004c0004t0003g0209 a0004c0004t0003g0210 a0004c0004t0003g0233 a0004c0004t0003g0234 a0004c0004t0003g0235 a0004c0004t0003g0236 a0004c0004t0003g0237 a0004c0004t0003g0238 a0004c0004t0003g0239 a0004c0004t0003g0240 a0004c0004t0003g0242 a0004c0004t0003g0243 a0004c0004t0003g0244 a0004c0004t0003g0248 a0004c0004t0003g0255 a0004c0004t0003g0256 a0004c0004t0003g0270 a0004c0004t0003g0271 a0004c0004t0003g0279 a0004c0004t0003g0303 a0004c0004t0011g0313 a0004c0006t0003g0036 a0004c0006t0003g0037 a0004c0006t0003g0047 a0004c0006t0003g0048 a0004c0006t0003g0053 a0004c0006t0003g0056 a0004c0006t0003g0057 a0004c0006t0003g0107 a0004c0006t0003g0124 a0004c0006t0003g0125 a0004c0006t0003g0155 a0004c0006t0003g0268 a0004c0006t0011g0327	42	346	0.1214	-2	c.451 others(11): Show c.4515_4516delTC	p.Gln others(6): Show p.Gln1506fs	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	38/39	5072/6008	4515/4632	1505/1543		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69154324	C C	CACCTGGA others(1): Show CACCTGGAA	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG00639.hp1 HG01069.hp1 HG01071.hp1 others(33): Show HG00639.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01361.hp2 HG02055.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0005 a0006 a0007 a0005 a0006 a0007	a0005c0005 a0006c0007 a0006c0016 others(1): Show a0005c0005 a0006c0007 a0006c0016 a0007c0008	a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 others(4): Show a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 a0006c0007t0010 a0006c0016t0004 a0007c0008t0004 a0007c0008t0007	a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 others(32): Show a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 a0005c0005t0004g0215 a0005c0005t0004g0216 a0005c0005t0004g0217 a0005c0005t0004g0219 a0005c0005t0004g0220 a0005c0005t0004g0221 a0005c0005t0004g0222 a0005c0005t0004g0223 a0005c0005t0004g0241 a0005c0005t0004g0262 a0005c0005t0015g0218 a0006c0007t0004g0114 a0006c0007t0004g0186 a0006c0007t0004g0187 a0006c0007t0004g0189 a0006c0007t0004g0190 a0006c0007t0004g0192 a0006c0007t0004g0193 a0006c0007t0004g0196 a0006c0007t0010g0336 a0006c0007t0010g0337 a0006c0007t0010g0338 a0006c0016t0004g0188 a0006c0016t0004g0191 a0007c0008t0004g0197 a0007c0008t0007g0009 a0007c0008t0007g0330 a0007c0008t0007g0331 a0007c0008t0007g0332 a0007c0008t0007g0333 a0007c0008t0007g0334 a0007c0008t0007g0335	36	346	0.1040	8	c.369 others(19): Show c.3695-6_3696dupTTCCAGGT	p.Glu others(6): Show p.Glu1233fs	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	31/39	4252/6008	3696/4632	1232/1543		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69193976	AAT AAT	A A	frameshift_variant frameshift_variant	HIGH	HG00639.hp1 HG01069.hp1 HG01071.hp1 others(34): Show HG00639.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01243.hp1 HG01361.hp2 HG02055.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0005 a0006 a0007 others(1): Show a0005 a0006 a0007 a0015	a0005c0005 a0006c0007 a0006c0016 others(2): Show a0005c0005 a0006c0007 a0006c0016 a0007c0008 a0015c0029	a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 others(5): Show a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 a0006c0007t0010 a0006c0016t0004 a0007c0008t0004 a0007c0008t0007 a0015c0029t0014	a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 others(33): Show a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 a0005c0005t0004g0215 a0005c0005t0004g0216 a0005c0005t0004g0217 a0005c0005t0004g0219 a0005c0005t0004g0220 a0005c0005t0004g0221 a0005c0005t0004g0222 a0005c0005t0004g0223 a0005c0005t0004g0241 a0005c0005t0004g0262 a0005c0005t0015g0218 a0006c0007t0004g0114 a0006c0007t0004g0186 a0006c0007t0004g0187 a0006c0007t0004g0189 a0006c0007t0004g0190 a0006c0007t0004g0192 a0006c0007t0004g0193 a0006c0007t0004g0196 a0006c0007t0010g0336 a0006c0007t0010g0337 a0006c0007t0010g0338 a0006c0016t0004g0188 a0006c0016t0004g0191 a0007c0008t0004g0197 a0007c0008t0007g0009 a0007c0008t0007g0330 a0007c0008t0007g0331 a0007c0008t0007g0332 a0007c0008t0007g0333 a0007c0008t0007g0334 a0007c0008t0007g0335 a0015c0029t0014g0198	37	346	0.1069	-2	c.135 others(11): Show c.1357_1358delAT	p.Ile others(5): Show p.Ile453fs	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	13/39	1914/6008	1357/4632	453/1543		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69194395	AACAG AACAG	A A	frameshift_variant frameshift_variant	HIGH	HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show HG00609.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02148.hp2 HG02886.hp1 HG02895.hp1 HG03017.hp2 HG03490.hp2 HG03579.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 NA18612.hp2 NA18945.hp2 NA18965.hp1 NA18974.hp2 NA18985.hp2 NA18989.hp2 NA18993.hp2 NA19000.hp2 NA19002.hp2 NA19030.hp2 NA19060.hp2 NA19068.hp1 NA19074.hp1 NA19086.hp2 NA20752.hp1	a0004 a0004	a0004c0004 a0004c0006 a0004c0004 a0004c0006	a0004c0004t0003 a0004c0004t0011 a0004c0006t0003 others(1): Show a0004c0004t0003 a0004c0004t0011 a0004c0006t0003 a0004c0006t0011	a0004c0004t0003g0007 a0004c0004t0003g0010 a0004c0004t0003g0077 others(38): Show a0004c0004t0003g0007 a0004c0004t0003g0010 a0004c0004t0003g0077 a0004c0004t0003g0108 a0004c0004t0003g0144 a0004c0004t0003g0194 a0004c0004t0003g0208 a0004c0004t0003g0209 a0004c0004t0003g0210 a0004c0004t0003g0233 a0004c0004t0003g0234 a0004c0004t0003g0235 a0004c0004t0003g0236 a0004c0004t0003g0237 a0004c0004t0003g0238 a0004c0004t0003g0239 a0004c0004t0003g0240 a0004c0004t0003g0242 a0004c0004t0003g0243 a0004c0004t0003g0244 a0004c0004t0003g0248 a0004c0004t0003g0255 a0004c0004t0003g0256 a0004c0004t0003g0270 a0004c0004t0003g0271 a0004c0004t0003g0279 a0004c0004t0003g0303 a0004c0004t0011g0313 a0004c0006t0003g0036 a0004c0006t0003g0037 a0004c0006t0003g0047 a0004c0006t0003g0048 a0004c0006t0003g0053 a0004c0006t0003g0056 a0004c0006t0003g0057 a0004c0006t0003g0107 a0004c0006t0003g0124 a0004c0006t0003g0125 a0004c0006t0003g0155 a0004c0006t0003g0268 a0004c0006t0011g0327	42	346	0.1214	-4	c.133 others(13): Show c.1331_1334delCTGT	p.Ser others(5): Show p.Ser444fs	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	12/39	1890/6008	1331/4632	444/1543		chr17	TogoVar
ABCC10_chr6_43422541_43455427	43450013	C C	CACCTATC others(42): Show CACCTATCCACTCCCTGGTTCAGAACAGTGTACCAGGCCTCCCCGAGCCA	frameshift_variant frameshift_variant	HIGH	NA19011.hp2 NA19011.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0004 a0011c0019t0004	a0011c0019t0004g0068 a0011c0019t0004g0068	1	340	0.0029	49	c.440 others(58): Show c.4402_4403insCCTATCCACTCCCTGGTTCAGAACAGTGTACCAGGC CTCCCCGAGCCAA	p.Asn others(6): Show p.Asn1468fs	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	22/22	4631/5043	4403/4479	1468/1492	INFO_REALIGN_3_PRIME	chr6	TogoVar
ABCC12_chr16_48075882_48160993	48143986	CTT CTT	C C	frameshift_variant frameshift_variant	HIGH	HG01496.hp2 HG02622.hp2 HG02647.hp1 others(4): Show HG01496.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02896.hp1 HG03139.hp2 NA20300.hp2	a0005 a0005	a0005c0010 a0005c0021 a0005c0029 others(1): Show a0005c0010 a0005c0021 a0005c0029 a0005c0030	a0005c0010t0002 a0005c0021t0002 a0005c0029t0018 others(1): Show a0005c0010t0002 a0005c0021t0002 a0005c0029t0018 a0005c0030t0001	a0005c0010t0002g0023 a0005c0010t0002g0024 a0005c0010t0002g0027 others(4): Show a0005c0010t0002g0023 a0005c0010t0002g0024 a0005c0010t0002g0027 a0005c0021t0002g0025 a0005c0021t0002g0026 a0005c0029t0018g0029 a0005c0030t0001g0119	7	132	0.0530	-2	c.197 others(9): Show c.197_198delAA	p.Lys others(4): Show p.Lys66fs	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	4/31	670/7385	197/4080	66/1359		chr16	TogoVar
ABCC3_chr17_50629881_50697253	50669464	CCTGTGCC others(7): Show CCTGTGCCTTGCTAG	C C	frameshift_variant frameshift_variant	HIGH	NA19003.hp1 NA19003.hp1	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0001 a0007c0025t0001	a0007c0025t0001g0152 a0007c0025t0001g0152	1	340	0.0029	-14	c.218 others(23): Show c.2181_2194delTGCCTTGCTAGCTG	p.Cys others(5): Show p.Cys727fs	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	17/31	2237/5693	2181/4584	727/1527	INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673462	T T	TCCCCAGA others(15): Show TCCCCAGACGCGAGTGCTGGTGA	frameshift_variant frameshift_variant	HIGH	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	340	0.0029	22	c.241 others(33): Show c.2410-5_2426dupCCCAGACGCGAGTGCTGGTGAC	p.His others(5): Show p.His810fs	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/31	2483/5693	2427/4584	809/1527	INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC5_chr3_183914934_184022884	183950088	G G	GATGAACA others(25): Show GATGAACATCTCGGCCTGGAACGGCAGCCGCAC	frameshift_variant frameshift_variant	HIGH	HG03654.hp1 HG03654.hp1	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0002 a0006c0019t0002	a0006c0019t0002g0323 a0006c0019t0002g0323	1	376	0.0027	32	c.295 others(41): Show c.2950_2981dupGTGCGGCTGCCGTTCCAGGCCGAGATGTTCAT	p.Ile others(5): Show p.Ile994fs	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	21/30	3091/5790	2981/4314	994/1437		chr3	TogoVar
ABCC6_chr16_16144565_16228494	16177618	A A	AATCCGTG others(6): Show AATCCGTGTCTGGG	frameshift_variant frameshift_variant	HIGH	NA19077.hp2 NA19077.hp2	a0042 a0042	a0042c0061 a0042c0061	a0042c0061t0001 a0042c0061t0001	a0042c0061t0001g0130 a0042c0061t0001g0130	1	356	0.0028	13	c.241 others(24): Show c.2416-5_2423dupCCCAGACACGGAT	p.Leu others(5): Show p.Leu809fs	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	19/31	2483/5140	2423/4512	808/1503		chr16	TogoVar
ABCF3_chr3_184181199_184199005	184193134	G G	GGAGTCAT others(42): Show GGAGTCATTTGGGAGTCCTTTGCAGCTGGCTCTGAGGAGAGACCACCGAT	frameshift_variant frameshift_variant	HIGH	NA18961.hp2 NA18961.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0027 a0007c0012t0001g0027	1	414	0.0024	49	c.178 others(58): Show c.1784_1785insAGTCATTTGGGAGTCCTTTGCAGCTGGCTCTGAGGA GAGACCACCGATG	p.Arg others(5): Show p.Arg596fs	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	19/21	1794/2446	1785/2130	595/709	INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD16A_chr6_31681955_31708324	31687701	C C	CACCAGTC others(30): Show CACCAGTCCTCTTCCACCTCCCATACACAAGAAAACAT	frameshift_variant frameshift_variant	HIGH	NA18979.hp2 NA18979.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0097 a0004c0008t0002g0097	1	416	0.0024	37	c.148 others(46): Show c.1486_1487insATGTTTTCTTGTGTATGGGAGGTGGAAGAGGACTGG T	p.Cys others(5): Show p.Cys496fs	ABHD16A	ENSG00000204427.12	transcript	ENST00000395952.8	protein_coding	18/20	1529/1977	1486/1677	496/558		chr6	TogoVar
ABHD16B_chr20_63856498_63867988	63861822	C C	CGGCCAGC others(16): Show CGGCCAGCTCGCTAGCTACGCGCT	frameshift_variant frameshift_variant	HIGH	HG03834.hp1 HG03834.hp1	a0012 a0012	a0012c0009 a0012c0009	a0012c0009t0001 a0012c0009t0001	a0012c0009t0001g0000 a0012c0009t0001g0000	1	396	0.0025	23	c.287 others(30): Show c.287_309dupAGCTCGCTAGCTACGCGCTGGCC	p.His others(5): Show p.His104fs	ABHD16B	ENSG00000183260.7	transcript	ENST00000369916.5	protein_coding	1/1	353/1491	310/1410	104/469	INFO_REALIGN_3_PRIME	chr20	TogoVar
ABHD16B_chr20_63856498_63867988	63862607	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG01175.hp2 HG01255.hp2 others(15): Show HG00597.hp2 HG01175.hp2 HG01255.hp2 HG01928.hp2 HG02080.hp2 HG02145.hp1 HG02145.hp2 HG03453.hp1 NA18950.hp2 NA18972.hp1 NA18975.hp1 NA18979.hp2 NA19002.hp1 NA19011.hp1 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19090.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0003c0016 a0005c0007 a0003c0003 a0003c0016 a0005c0007	a0003c0003t0001 a0003c0016t0001 a0005c0007t0001 a0003c0003t0001 a0003c0016t0001 a0005c0007t0001	a0003c0003t0001g0000 a0003c0016t0001g0000 a0005c0007t0001g0000 a0003c0003t0001g0000 a0003c0016t0001g0000 a0005c0007t0001g0000	18	396	0.0455	1	c.107 others(5): Show c.1071dupC	p.Val others(5): Show p.Val358fs	ABHD16B	ENSG00000183260.7	transcript	ENST00000369916.5	protein_coding	1/1	1115/1491	1072/1410	358/469	INFO_REALIGN_3_PRIME	chr20	TogoVar
ACHE_chr7_100884994_100900888	100893725	C C	CCAAGAAG others(42): Show CCAAGAAGCGGCCATCGTACACGTCCAAGGAGGAGGCCCCACTGTAGAAG	frameshift_variant frameshift_variant	HIGH	HG02738.hp2 HG02738.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0061 a0006c0008t0001g0061	1	412	0.0024	49	c.459 others(56): Show c.459_507dupCTTCTACAGTGGGGCCTCCTCCTTGGACGTGTACGATG GCCGCTTCTTG	p.Val others(5): Show p.Val170fs	ACHE	ENSG00000087085.16	transcript	ENST00000241069.11	protein_coding	2/5	614/2172	507/1845	169/614		chr7	TogoVar
ACKR3_chr2_236564825_236587354	236580782	AGCACAAC others(4): Show AGCACAACCAGT	A A	frameshift_variant frameshift_variant	HIGH	HG02015.hp2 HG02015.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0072 a0006c0014t0001g0072	1	392	0.0026	-11	c.319 others(18): Show c.319_329delCACAACCAGTG	p.His others(5): Show p.His107fs	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding	2/2	445/2015	319/1089	107/362	INFO_REALIGN_3_PRIME	chr2	TogoVar
ACKR3_chr2_236564825_236587354	236580894	CCTCTCCA others(3): Show CCTCTCCATCA	C C	frameshift_variant frameshift_variant	HIGH	HG02015.hp2 HG02015.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0072 a0006c0014t0001g0072	1	392	0.0026	-10	c.431 others(17): Show c.431_440delTCTCCATCAC	p.Leu others(5): Show p.Leu144fs	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding	2/2	557/2015	431/1089	144/362	INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOT8_chr20_45836721_45862392	45857313	C C	CATCT CATCT	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00423.hp1 HG00597.hp2 HG02165.hp2 others(8): Show HG00423.hp1 HG00597.hp2 HG02165.hp2 HG03834.hp1 HG03927.hp2 NA18952.hp2 NA18961.hp1 NA18973.hp1 NA18978.hp1 NA19002.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0034 others(3): Show a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0034 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050	11	420	0.0262	4	c.-2_ others(8): Show c.-2_2dupAGAT	p.Met others(3): Show p.Met1fs	ACOT8	ENSG00000101473.17	transcript	ENST00000217455.9	protein_coding	1/6	79/1154	2/960	1/319		chr20	TogoVar
ACOX2_chr3_58500136_58542190	58531789	G G	GCTTCTTA others(4): Show GCTTCTTATTGT	frameshift_variant frameshift_variant	HIGH	HG03209.hp1 HG03209.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0002 a0008c0019t0002	a0008c0019t0002g0234 a0008c0019t0002g0234	1	362	0.0028	11	c.606 others(18): Show c.606_607insACAATAAGAAG	p.Leu others(5): Show p.Leu203fs	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	6/15	769/2297	606/2046	202/681		chr3	TogoVar
ACSL6_chr5_131944973_132016658	131990123	AAGGCTGC others(16): Show AAGGCTGCTTAGGCTTCCTGAAAC	A A	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0208 a0004c0005t0002g0208	1	324	0.0031	-23	c.404 others(30): Show c.404_426delGTTTCAGGAAGCCTAAGCAGCCT	p.Gly others(5): Show p.Gly135fs	ACSL6	ENSG00000164398.15	transcript	ENST00000651883.2	protein_coding	4/21	531/6535	404/2169	135/722		chr5	TogoVar
ACTRT3_chr3_169761921_169774561	169767752	CAAGGTTC others(22): Show CAAGGTTCATATGACACGGAGAGAAGAGGG	C C	frameshift_variant frameshift_variant	HIGH	NA19012.hp2 NA19012.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0040 a0008c0009t0001g0040	1	416	0.0024	-29	c.770 others(36): Show c.770_798delCCCTCTTCTCTCCGTGTCATATGAACCTT	p.Ala others(5): Show p.Ala257fs	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding	2/2	839/1671	770/1119	257/372		chr3	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
ADA2_chr22_17173790_17224435	17188382	CTTGGCGG others(246): Show CTTGGCGGGGATCATCAGAGCTTCCTTGTAGTCATGCAAGGAGTGGCCAG TGTCCTCATGCCCCACCTGCAGGACAGAGAGGGACAGGGAGGTGTCTGCA GGGCGCATGCCTCACTTGCTGATGGCGCGCCCTGGAGCCTGTGCACACCC TTCCTTGTACCCTGCCACCACTGCCGGGACCTTTGTCACACAGCCTTTTA AGAATGACCAGGAGCAGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAG CACT	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0045 a0003c0011t0045	a0003c0011t0045g0337 a0003c0011t0045g0337	1	406	0.0025	-253	c.973 others(12): Show c.973-188_1037del	p.Val others(5): Show p.Val325fs	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/10	1163/4355	973/1536	325/511		chr22	TogoVar
ADAD2_chr16_84186157_84202166	84196137	CCACGACC others(25): Show CCACGACCCTCCGACTCTGAGCAGGGCCATCCA	C C	frameshift_variant frameshift_variant	HIGH	NA18998.hp1 NA18998.hp1	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0001 a0018c0029t0001	a0018c0029t0001g0001 a0018c0029t0001g0001	1	468	0.0021	-32	c.129 others(41): Show c.1297_1328delGACCCTCCGACTCTGAGCAGGGCCATCCACAC	p.Asp others(5): Show p.Asp433fs	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	8/10	1371/2018	1297/1752	433/583	INFO_REALIGN_3_PRIME	chr16	TogoVar
ADAM20_chr14_70517358_70540004	70522703	T T	TAATCCTT others(31): Show TAATCCTTCCATGTTGTTCTTAGGAGGTGGGCCACTATC	frameshift_variant frameshift_variant	HIGH	NA18967.hp2 NA18967.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0091 a0007c0008t0003g0091	1	398	0.0025	38	c.201 others(47): Show c.2017_2054dupGATAGTGGCCCACCTCCTAAGAACAACATGGAAGGA TT	p.Asn others(5): Show p.Asn686fs	ADAM20	ENSG00000134007.5	transcript	ENST00000256389.5	protein_coding	2/2	2438/2784	2054/2181	685/726		chr14	TogoVar
ADAM33_chr20_3662975_3687010	3668985	ATCTGGAC others(1): Show ATCTGGACT	A A	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00597.hp1 HG00639.hp2 others(43): Show HG00408.hp1 HG00597.hp1 HG00639.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01891.hp2 HG01952.hp1 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02129.hp2 HG02148.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG03195.hp1 HG03669.hp2 HG03834.hp2 HG04115.hp1 HG04228.hp2 NA18939.hp1 NA18948.hp2 NA18949.hp1 NA18959.hp1 NA18961.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18971.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA19005.hp2 NA19006.hp2 NA19054.hp2 NA19055.hp1 NA19076.hp2 NA19080.hp1 NA19086.hp2 NA20300.hp2	a0003 a0005 a0015 others(3): Show a0003 a0005 a0015 a0019 a0021 a0024	a0003c0003 a0003c0039 a0003c0042 others(9): Show a0003c0003 a0003c0039 a0003c0042 a0003c0043 a0005c0009 a0005c0010 a0005c0013 a0005c0035 a0015c0029 a0019c0024 a0021c0037 a0024c0045	a0003c0003t0007 a0003c0003t0008 a0003c0003t0032 others(14): Show a0003c0003t0007 a0003c0003t0008 a0003c0003t0032 a0003c0039t0007 a0003c0042t0007 a0003c0043t0007 a0005c0009t0007 a0005c0010t0008 a0005c0010t0031 a0005c0013t0012 a0005c0013t0021 a0005c0013t0036 a0005c0035t0012 a0015c0029t0022 a0019c0024t0008 a0021c0037t0007 a0024c0045t0034	a0003c0003t0007g0058 a0003c0003t0007g0095 a0003c0003t0007g0096 others(36): Show a0003c0003t0007g0058 a0003c0003t0007g0095 a0003c0003t0007g0096 a0003c0003t0007g0097 a0003c0003t0007g0140 a0003c0003t0007g0197 a0003c0003t0007g0241 a0003c0003t0007g0249 a0003c0003t0007g0255 a0003c0003t0007g0270 a0003c0003t0008g0005 a0003c0003t0008g0198 a0003c0003t0008g0214 a0003c0003t0008g0215 a0003c0003t0008g0240 a0003c0003t0008g0245 a0003c0003t0032g0295 a0003c0039t0007g0303 a0003c0042t0007g0360 a0003c0043t0007g0361 a0005c0009t0007g0007 a0005c0009t0007g0072 a0005c0009t0007g0090 a0005c0009t0007g0111 a0005c0009t0007g0252 a0005c0010t0008g0039 a0005c0010t0008g0060 a0005c0010t0008g0345 a0005c0010t0008g0351 a0005c0010t0031g0362 a0005c0013t0012g0201 a0005c0013t0012g0262 a0005c0013t0021g0065 a0005c0013t0036g0064 a0005c0035t0012g0206 a0015c0029t0022g0147 a0019c0024t0008g0050 a0021c0037t0007g0110 a0024c0045t0034g0348	46	460	0.1000	-8	c.241 others(17): Show c.2412_2419delAGTCCAGA	p.Gln others(5): Show p.Gln804fs	ADAM33	ENSG00000149451.19	transcript	ENST00000356518.7	protein_coding	22/22	2425/3436	2412/2442	804/813		chr20	TogoVar
ADAMTSL4_chr1_150544408_150565933	150559084	A A	ACCCCCAC others(7): Show ACCCCCACAGCGCCC	frameshift_variant frameshift_variant	HIGH	NA18954.hp2 NA18954.hp2	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0001 a0023c0035t0001	a0023c0035t0001g0003 a0023c0035t0001g0003	1	438	0.0023	14	c.268 others(23): Show c.2682_2683insCCCCCACAGCGCCC	p.Ser others(5): Show p.Ser895fs	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	16/19	2933/4212	2683/3225	895/1074		chr1	TogoVar
ADCK5_chr8_144369047_144398242	144391183	TCCAGGAG others(4): Show TCCAGGAGTTTG	T T	frameshift_variant frameshift_variant	HIGH	HG01516.hp2 HG01516.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0158 a0007c0011t0002g0158	1	344	0.0029	-11	c.594 others(18): Show c.594_604delCCAGGAGTTTG	p.Phe others(5): Show p.Phe198fs	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	6/15	643/1960	594/1743	198/580		chr8	TogoVar
ADCY2_chr5_7391138_7835081	7757568	G G	GATGGCCG others(25): Show GATGGCCGTGTTCAACCTGGTAAGCCCCAGAGC	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG02451.hp2 HG02451.hp2	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0001 a0005c0023t0001	a0005c0023t0001g0054 a0005c0023t0001g0054	1	58	0.0172	32	c.209 others(41): Show c.2091_2092insCTGGTAAGCCCCAGAGCATGGCCGTGTTCAAC	p.Met others(5): Show p.Met698fs	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	16/25	2251/6645	2092/3276	698/1091	INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRA2_chr8_37791883_37849896	37841784	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG00673.hp1 HG01192.hp1 others(10): Show HG00408.hp2 HG00673.hp1 HG01192.hp1 HG01192.hp2 HG02071.hp2 HG02738.hp2 HG03831.hp2 HG03942.hp2 HG04228.hp2 NA18978.hp2 NA18980.hp1 NA19082.hp1 NA19086.hp2	a0004 a0006 a0004 a0006	a0004c0011 a0004c0015 a0006c0019 others(4): Show a0004c0011 a0004c0015 a0006c0019 a0006c0033 a0006c0034 a0006c0035 a0006c0040	a0004c0011t0001 a0004c0015t0001 a0006c0019t0001 others(4): Show a0004c0011t0001 a0004c0015t0001 a0006c0019t0001 a0006c0033t0001 a0006c0034t0001 a0006c0035t0001 a0006c0040t0001	a0004c0011t0001g0041 a0004c0011t0001g0073 a0004c0011t0001g0306 others(10): Show a0004c0011t0001g0041 a0004c0011t0001g0073 a0004c0011t0001g0306 a0004c0011t0001g0360 a0004c0015t0001g0014 a0004c0015t0001g0214 a0004c0015t0001g0343 a0006c0019t0001g0065 a0006c0019t0001g0310 a0006c0033t0001g0138 a0006c0034t0001g0207 a0006c0035t0001g0057 a0006c0040t0001g0105	13	368	0.0353	1	c.345 others(5): Show c.3451dupG	p.Ala others(6): Show p.Ala1151fs	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	19/19	3838/6944	3452/4017	1151/1338	INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142475496	GTGGGGCG others(6): Show GTGGGGCGAATGCA	G G	frameshift_variant frameshift_variant	HIGH	HG02735.hp1 HG02735.hp1	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0002 a0008c0022t0002	a0008c0022t0002g0269 a0008c0022t0002g0269	1	308	0.0032	-13	c.808 others(20): Show c.808_820delTGGGGCGAATGCA	p.Trp others(5): Show p.Trp270fs	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	3/31	1483/6020	808/4755	270/1584		chr8	TogoVar
ADGRL1_chr19_14142743_14211169	14151435	AGCTCTGA others(24): Show AGCTCTGAGATGATCATCTTCTCAAAGGCCGC	A A	frameshift_variant frameshift_variant	HIGH	NA18955.hp2 NA18955.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0019 a0006c0013t0019	a0006c0013t0019g0170 a0006c0013t0019g0170	1	220	0.0045	-31	c.381 others(40): Show c.3817_3847delGCGGCCTTTGAGAAGATGATCATCTCAGAGC	p.Ala others(6): Show p.Ala1273fs	ADGRL1	ENSG00000072071.17	transcript	ENST00000361434.8	protein_coding	23/23	4127/7820	3817/4410	1273/1469		chr19	TogoVar
ADM2_chr22_50476543_50491437	50482729	CCCCCGAA others(10): Show CCCCCGAAGACACTCGGG	C C	frameshift_variant frameshift_variant	HIGH	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	-17	c.278 others(24): Show c.278_294delGAAGACACTCGGGCCCC	p.Arg others(4): Show p.Arg93fs	ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding	3/3	510/4213	278/447	93/148	INFO_REALIGN_3_PRIME	chr22	TogoVar
ADNP2_chr18_80104262_80145346	80136651	CTGTTGGG others(28): Show CTGTTGGGCCTGGTGTTCTTCCTGTGAGCCCCTCTG	C C	frameshift_variant frameshift_variant	HIGH	HG01169.hp1 HG01169.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0145 a0004c0012t0002g0145	1	386	0.0026	-35	c.124 others(44): Show c.1240_1274delGTTGGGCCTGGTGTTCTTCCTGTGAGCCCCTCTGT	p.Val others(5): Show p.Val414fs	ADNP2	ENSG00000101544.9	transcript	ENST00000262198.9	protein_coding	4/4	1464/5157	1240/3396	414/1131	INFO_REALIGN_3_PRIME	chr18	TogoVar
ADORA2B_chr17_15940130_15980746	15975097	G G	GCTGTTAA others(70): Show GCTGTTAACTGTGTCACTCTTTTCCAGCCAGCTCAGGGTAAAAATAAGCC CAAGTGGGCAATGAATATGGCCATTCTT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18998.hp1 NA18998.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0148 a0005c0011t0001g0148	1	344	0.0029	77	c.759 others(84): Show c.759_835dupTAACTGTGTCACTCTTTTCCAGCCAGCTCAGGGTAAAA ATAAGCCCAAGTGGGCAATGAATATGGCCATTCTTCTGT	p.Ser others(5): Show p.Ser279fs	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding	2/2	955/1522	836/999	279/332	INFO_REALIGN_3_PRIME	chr17	TogoVar
ADRA2B_chr2_96107876_96121571	96115782	TTGGAGTT others(4): Show TTGGAGTTGTAC	T T	frameshift_variant frameshift_variant	HIGH	NA18999.hp1 NA18999.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0000 a0004c0005t0001g0000	1	388	0.0026	-11	c.357 others(18): Show c.357_367delGTACAACTCCA	p.Tyr others(5): Show p.Tyr120fs	ADRA2B	ENSG00000274286.2	transcript	ENST00000620793.2	protein_coding	1/1	789/3696	357/1353	119/450		chr2	TogoVar
AEBP1_chr7_44099345_44119560	44112970	TCTGTATC others(14): Show TCTGTATCTGTCCCCGGCCAGC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19082.hp2 NA19082.hp2	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0042 a0014c0016t0001g0042	1	424	0.0024	-21	c.257 others(33): Show c.2570-20_2570delCTGTATCTGTCCCCGGCCAGC	p.Thr others(5): Show p.Thr857fs	AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	19/21		2570/3477	857/1158		chr7	TogoVar
AEBP1_chr7_44099345_44119560	44113703	C C	CGGGGGGG others(9): Show CGGGGGGGGGGGGGGGG	frameshift_variant frameshift_variant	HIGH	NA19082.hp2 NA19082.hp2	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0042 a0014c0016t0001g0042	1	424	0.0024	16	c.292 others(25): Show c.2923_2924insGGGGGGGGGGGGGGGG	p.Ala others(5): Show p.Ala975fs	AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	21/21	3245/4097	2924/3477	975/1158	INFO_REALIGN_3_PRIME	chr7	TogoVar
AFDN_chr6_167821911_167977023	167951476	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG01109.hp2 HG02622.hp2 others(6): Show HG00642.hp2 HG01109.hp2 HG02622.hp2 HG03942.hp1 NA18946.hp2 NA18980.hp1 NA18985.hp2 NA19072.hp2 NA19083.hp1	a0002 a0002	a0002c0012 a0002c0013 a0002c0016 others(4): Show a0002c0012 a0002c0013 a0002c0016 a0002c0021 a0002c0027 a0002c0028 a0002c0029	a0002c0012t0001 a0002c0012t0002 a0002c0013t0001 others(5): Show a0002c0012t0001 a0002c0012t0002 a0002c0013t0001 a0002c0016t0005 a0002c0021t0001 a0002c0027t0001 a0002c0028t0001 a0002c0029t0001	a0002c0012t0001g0037 a0002c0012t0002g0263 a0002c0013t0001g0025 others(6): Show a0002c0012t0001g0037 a0002c0012t0002g0263 a0002c0013t0001g0025 a0002c0013t0001g0070 a0002c0016t0005g0282 a0002c0021t0001g0065 a0002c0027t0001g0160 a0002c0028t0001g0320 a0002c0029t0001g0103	9	324	0.0278	1	c.412 others(5): Show c.4127dupC	p.Pro others(6): Show p.Pro1377fs	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	30/34	4350/7806	4128/5496	1376/1831	INFO_REALIGN_3_PRIME	chr6	TogoVar
AFDN_chr6_167821911_167977023	167969856	CACAAGGT others(39): Show CACAAGGTCAAGATGTATCCAATAAAGTGAAAGCTTCTCGTAAATTA	C C	frameshift_variant frameshift_variant	HIGH	NA19074.hp1 NA19074.hp1	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0002 a0014c0017t0002	a0014c0017t0002g0234 a0014c0017t0002g0234	1	324	0.0031	-46	c.542 others(55): Show c.5421_5466delAGGTCAAGATGTATCCAATAAAGTGAAAGCTTCTCG TAAATTAACA	p.Gly others(6): Show p.Gly1808fs	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	34/34	5643/7806	5421/5496	1807/1831	INFO_REALIGN_3_PRIME	chr6	TogoVar
AGAP2_chr12_57720197_57743742	57737529	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00423.hp2 HG01109.hp1 HG01175.hp2 others(8): Show HG00423.hp2 HG01109.hp1 HG01175.hp2 HG01928.hp1 HG01952.hp2 HG02083.hp2 HG02523.hp2 HG03710.hp2 NA19003.hp2 NA19030.hp2 NA19072.hp2	a0002 a0002	a0002c0005 a0002c0007 a0002c0009 a0002c0005 a0002c0007 a0002c0009	a0002c0005t0001 a0002c0005t0002 a0002c0005t0013 others(2): Show a0002c0005t0001 a0002c0005t0002 a0002c0005t0013 a0002c0007t0001 a0002c0009t0005	a0002c0005t0001g0026 a0002c0005t0001g0054 a0002c0005t0001g0055 others(5): Show a0002c0005t0001g0026 a0002c0005t0001g0054 a0002c0005t0001g0055 a0002c0005t0002g0057 a0002c0005t0013g0058 a0002c0007t0001g0027 a0002c0007t0001g0056 a0002c0009t0005g0028	11	380	0.0289	1	c.717 others(4): Show c.717dupC	p.Ala others(5): Show p.Ala240fs	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	1/19	1213/5430	717/3579	239/1192		chr12	TogoVar
AGAP3_chr7_151081475_151149434	151086812	G G	GT GT	frameshift_variant frameshift_variant	HIGH	HG01884.hp2 HG01891.hp1 HG02280.hp1 others(6): Show HG01884.hp2 HG01891.hp1 HG02280.hp1 HG02886.hp1 HG02896.hp1 HG02970.hp2 HG03130.hp1 HG03516.hp1 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0020 a0002c0002 a0002c0020	a0002c0002t0002 a0002c0020t0002 a0002c0002t0002 a0002c0020t0002	a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 others(6): Show a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0020t0002g0318	9	352	0.0256	1	c.71_ others(6): Show c.71_72insT	p.Ala others(4): Show p.Ala25fs	AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	1/18	339/3494	72/2736	24/911		chr7	TogoVar
AGAP3_chr7_151081475_151149434	151117643	C C	CTGGGCGT others(6): Show CTGGGCGTGGAGGT	frameshift_variant frameshift_variant	HIGH	HG03831.hp2 HG03831.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0004 a0005c0018t0004	a0005c0018t0004g0291 a0005c0018t0004g0291	1	352	0.0028	13	c.572 others(20): Show c.572_573insTGGGCGTGGAGGT	p.Trp others(5): Show p.Trp192fs	AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	5/18	840/3494	573/2736	191/911		chr7	TogoVar
AGAP3_chr7_151081475_151149434	151117645	T T	TTGTTGGT others(3): Show TTGTTGGTTTG	frameshift_variant frameshift_variant	HIGH	HG03831.hp2 HG03831.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0004 a0005c0018t0004	a0005c0018t0004g0291 a0005c0018t0004g0291	1	352	0.0028	10	c.574 others(17): Show c.574_575insTGTTGGTTTG	p.Trp others(5): Show p.Trp192fs	AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	5/18	842/3494	575/2736	192/911		chr7	TogoVar
AGAP6_chr10_49983406_50015499	49988768	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00609.hp2 HG00741.hp1 others(36): Show HG00140.hp1 HG00609.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01106.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01891.hp2 HG01934.hp1 HG01981.hp1 HG02280.hp1 HG02602.hp2 HG02735.hp2 HG02809.hp2 HG03017.hp2 HG03209.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18961.hp2 NA18962.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18986.hp2 NA19054.hp1 NA19062.hp2 NA19082.hp2 NA19086.hp1 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0014 a0003c0031 a0003c0003 a0003c0014 a0003c0031	a0003c0003t0003 a0003c0003t0009 a0003c0003t0010 others(3): Show a0003c0003t0003 a0003c0003t0009 a0003c0003t0010 a0003c0014t0003 a0003c0014t0008 a0003c0031t0003	a0003c0003t0003g0013 a0003c0003t0003g0019 a0003c0003t0003g0020 others(24): Show a0003c0003t0003g0013 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0051 a0003c0003t0003g0206 a0003c0003t0003g0207 a0003c0003t0003g0208 a0003c0003t0003g0209 a0003c0003t0003g0210 a0003c0003t0003g0211 a0003c0003t0003g0213 a0003c0003t0003g0214 a0003c0003t0003g0215 a0003c0003t0003g0216 a0003c0003t0003g0217 a0003c0003t0003g0218 a0003c0003t0003g0220 a0003c0003t0003g0221 a0003c0003t0003g0222 a0003c0003t0003g0223 a0003c0003t0009g0024 a0003c0003t0010g0019 a0003c0014t0003g0212 a0003c0014t0008g0025 a0003c0031t0003g0219	39	404	0.0965	1	c.55d others(3): Show c.55dupC	p.Gln others(4): Show p.Gln19fs	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	1/8	366/2684	56/2061	19/686	INFO_REALIGN_3_PRIME	chr10	TogoVar
AGAP6_chr10_49983406_50015499	49988921	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00544.hp1 HG00733.hp1 others(17): Show HG00140.hp2 HG00544.hp1 HG00733.hp1 HG01123.hp1 HG02135.hp2 HG02896.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG04115.hp2 NA18522.hp2 NA18906.hp2 NA18948.hp2 NA18989.hp1 NA19009.hp1 NA19076.hp2 NA19091.hp1 NA21309.hp1	a0004 a0004	a0004c0004 a0004c0026 a0004c0027 a0004c0004 a0004c0026 a0004c0027	a0004c0004t0004 a0004c0026t0004 a0004c0027t0011 a0004c0004t0004 a0004c0026t0004 a0004c0027t0011	a0004c0004t0004g0004 a0004c0004t0004g0039 a0004c0004t0004g0040 others(8): Show a0004c0004t0004g0004 a0004c0004t0004g0039 a0004c0004t0004g0040 a0004c0004t0004g0121 a0004c0004t0004g0122 a0004c0004t0004g0123 a0004c0004t0004g0125 a0004c0004t0004g0126 a0004c0004t0004g0127 a0004c0026t0004g0124 a0004c0027t0011g0186	20	404	0.0495	-1	c.208 others(4): Show c.208delC	p.Arg others(4): Show p.Arg70fs	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	1/8	518/2684	208/2061	70/686	INFO_REALIGN_3_PRIME	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50008914	CAA CAA	C C	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00609.hp2 HG00741.hp1 others(36): Show HG00140.hp1 HG00609.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01106.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01891.hp2 HG01934.hp1 HG01981.hp1 HG02280.hp1 HG02602.hp2 HG02735.hp2 HG02809.hp2 HG03017.hp2 HG03209.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18961.hp2 NA18962.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18986.hp2 NA19054.hp1 NA19062.hp2 NA19082.hp2 NA19086.hp1 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0014 a0003c0031 a0003c0003 a0003c0014 a0003c0031	a0003c0003t0003 a0003c0003t0009 a0003c0003t0010 others(3): Show a0003c0003t0003 a0003c0003t0009 a0003c0003t0010 a0003c0014t0003 a0003c0014t0008 a0003c0031t0003	a0003c0003t0003g0013 a0003c0003t0003g0019 a0003c0003t0003g0020 others(24): Show a0003c0003t0003g0013 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0051 a0003c0003t0003g0206 a0003c0003t0003g0207 a0003c0003t0003g0208 a0003c0003t0003g0209 a0003c0003t0003g0210 a0003c0003t0003g0211 a0003c0003t0003g0213 a0003c0003t0003g0214 a0003c0003t0003g0215 a0003c0003t0003g0216 a0003c0003t0003g0217 a0003c0003t0003g0218 a0003c0003t0003g0220 a0003c0003t0003g0221 a0003c0003t0003g0222 a0003c0003t0003g0223 a0003c0003t0009g0024 a0003c0003t0010g0019 a0003c0014t0003g0212 a0003c0014t0008g0025 a0003c0031t0003g0219	39	404	0.0965	-2	c.791 others(9): Show c.791_792delAA	p.Lys others(5): Show p.Lys264fs	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	8/8	1101/2684	791/2061	264/686	INFO_REALIGN_3_PRIME	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50009462	TGCAGTCA others(7): Show TGCAGTCATGCGAGA	T T	frameshift_variant frameshift_variant	HIGH	NA18952.hp1 NA18962.hp1 NA19004.hp2 NA18952.hp1 NA18962.hp1 NA19004.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0002 a0009c0009t0002	a0009c0009t0002g0001 a0009c0009t0002g0001	3	404	0.0074	-14	c.134 others(23): Show c.1343_1356delCATGCGAGAGCAGT	p.Ser others(5): Show p.Ser448fs	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	8/8	1653/2684	1343/2061	448/686	INFO_REALIGN_3_PRIME	chr10	TogoVar

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