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
AUNIP_chr1_25829006_25864457	25835277	GTTTCACT others(3): Show GTTTCACTGAT	G G	frameshift_variant frameshift_variant	HIGH	HG01175.hp2 HG01175.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0139 a0006c0008t0001g0139	1	350	0.0029	-10	c.780 others(17): Show c.780_789delATCAGTGAAA	p.Glu others(5): Show p.Glu260fs	AUNIP	ENSG00000127423.11	transcript	ENST00000374298.4	protein_coding	3/3	889/2161	780/1074	260/357		chr1	TogoVar
AVIL_chr12_57792380_57823734	57811062	CGCTTCAC others(4): Show CGCTTCACGTCG	C C	frameshift_variant frameshift_variant	HIGH	NA19079.hp2 NA19079.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0104 a0004c0015t0001g0104	1	370	0.0027	-11	c.393 others(18): Show c.393_403delCGACGTGAAGC	p.Tyr others(5): Show p.Tyr131fs	AVIL	ENSG00000135407.11	transcript	ENST00000549994.2	protein_coding	5/20	528/3087	393/2460	131/819		chr12	TogoVar
AVPR2_chrX_153899673_153912166	153905974	G G	GAACCGGC others(6): Show GAACCGGCCGGTGC	frameshift_variant frameshift_variant	HIGH	NA18968.hp1 NA18968.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0001 a0011c0015t0001g0001	1	320	0.0031	13	c.469 others(20): Show c.469_481dupAACCGGCCGGTGC	p.Leu others(5): Show p.Leu161fs	AVPR2	ENSG00000126895.16	transcript	ENST00000646375.2	protein_coding	3/4	753/1825	482/1116	161/371	INFO_REALIGN_3_PRIME	chrX	TogoVar
AZGP1_chr7_99961730_99981031	99971947	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00673.hp1 HG01261.hp2 NA18972.hp2 others(4): Show HG00673.hp1 HG01261.hp2 NA18972.hp2 NA18981.hp1 NA18991.hp2 NA18998.hp2 NA19083.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0001 a0002c0003t0001 a0002c0004t0001	a0002c0003t0001g0020 a0002c0003t0001g0052 a0002c0003t0001g0059 others(1): Show a0002c0003t0001g0020 a0002c0003t0001g0052 a0002c0003t0001g0059 a0002c0004t0001g0034	7	430	0.0163	1	c.135 others(4): Show c.135dupC	p.Ala others(4): Show p.Ala46fs	AZGP1	ENSG00000160862.13	transcript	ENST00000292401.9	protein_coding	2/4	146/1181	135/897	45/298		chr7	TogoVar
AZU1_chr19_822837_837018	830862	TGACTGTG others(43): Show TGACTGTGACCCCCGAGGACCAGTGTCGCCCCAACAACGTGTGCACCGGT G	T T	frameshift_variant frameshift_variant	HIGH	HG02027.hp1 HG02027.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0002 a0007c0017t0001g0002	1	390	0.0026	-50	c.516 others(57): Show c.516_565delGACTGTGACCCCCGAGGACCAGTGTCGCCCCAACAACG TGTGCACCGGTG	p.Thr others(5): Show p.Thr173fs	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	4/5	526/907	516/756	172/251		chr19	TogoVar
B3GNT3_chr19_17790138_17818576	17811688	C C	CTGGCACC others(4): Show CTGGCACCTCTG	frameshift_variant frameshift_variant	HIGH	NA18955.hp2 NA18955.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0006 a0008c0010t0006	a0008c0010t0006g0151 a0008c0010t0006g0151	1	404	0.0025	11	c.685 others(18): Show c.685_686insTGGCACCTCTG	p.Pro others(5): Show p.Pro229fs	B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding	3/3	805/2692	686/1119	229/372		chr19	TogoVar
B4GALNT3_chr12_454939_568509	546693	CCAAATTT others(4): Show CCAAATTTCCAA	C C	frameshift_variant frameshift_variant	HIGH	NA18988.hp2 NA18988.hp2	a0025 a0025	a0025c0029 a0025c0029	a0025c0029t0003 a0025c0029t0003	a0025c0029t0003g0365 a0025c0029t0003g0365	1	392	0.0026	-11	c.688 others(18): Show c.688_698delCAAATTTCCAA	p.Gln others(5): Show p.Gln230fs	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	7/20	1126/5493	688/2997	230/998		chr12	TogoVar
B4GALNT4_chr11_364499_387117	372179	GGACTCCA others(4): Show GGACTCCAGTGA	G G	frameshift_variant frameshift_variant	HIGH	HG01975.hp2 HG01975.hp2	a0012 a0012	a0012c0040 a0012c0040	a0012c0040t0001 a0012c0040t0001	a0012c0040t0001g0007 a0012c0040t0001g0007	1	182	0.0055	-11	c.225 others(18): Show c.225_235delCTCCAGTGAGA	p.Asp others(4): Show p.Asp75fs	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	2/20	530/3750	225/3120	75/1039	INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375699	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00544.hp2 HG01106.hp1 others(9): Show HG00438.hp1 HG00544.hp2 HG01106.hp1 HG01361.hp1 HG02148.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03834.hp2 HG03927.hp2 NA18947.hp2 NA19085.hp1	a0003 a0005 a0017 a0003 a0005 a0017	a0003c0006 a0003c0036 a0003c0039 others(3): Show a0003c0006 a0003c0036 a0003c0039 a0005c0010 a0005c0023 a0017c0031	a0003c0006t0001 a0003c0036t0001 a0003c0039t0001 others(3): Show a0003c0006t0001 a0003c0036t0001 a0003c0039t0001 a0005c0010t0001 a0005c0023t0001 a0017c0031t0004	a0003c0006t0001g0065 a0003c0006t0001g0077 a0003c0006t0001g0078 others(9): Show a0003c0006t0001g0065 a0003c0006t0001g0077 a0003c0006t0001g0078 a0003c0006t0001g0133 a0003c0006t0001g0154 a0003c0036t0001g0079 a0003c0039t0001g0058 a0005c0010t0001g0037 a0005c0010t0001g0109 a0005c0010t0001g0174 a0005c0023t0001g0125 a0017c0031t0004g0012	12	181	0.0663	1	c.918 others(4): Show c.918dupG	p.Arg others(5): Show p.Arg307fs	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	10/20	1224/3750	919/3120	307/1039	INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	379511	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG01255.hp1 HG01952.hp2 others(7): Show HG00544.hp1 HG01255.hp1 HG01952.hp2 HG03098.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG03669.hp2 HG03927.hp2 HG06807.hp2	a0005 a0006 a0007 others(2): Show a0005 a0006 a0007 a0018 a0020	a0005c0023 a0006c0007 a0007c0011 others(2): Show a0005c0023 a0006c0007 a0007c0011 a0018c0029 a0020c0032	a0005c0023t0001 a0006c0007t0001 a0007c0011t0001 others(2): Show a0005c0023t0001 a0006c0007t0001 a0007c0011t0001 a0018c0029t0004 a0020c0032t0001	a0005c0023t0001g0125 a0006c0007t0001g0041 a0006c0007t0001g0122 others(7): Show a0005c0023t0001g0125 a0006c0007t0001g0041 a0006c0007t0001g0122 a0006c0007t0001g0132 a0006c0007t0001g0175 a0007c0011t0001g0068 a0007c0011t0001g0150 a0007c0011t0001g0158 a0018c0029t0004g0053 a0020c0032t0001g0147	10	182	0.0549	1	c.230 others(5): Show c.2303dupG	p.Gly others(5): Show p.Gly769fs	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	15/20	2609/3750	2304/3120	768/1039	INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALT2_chr1_43974210_43996168	43990356	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00741.hp1 HG01928.hp1 HG01978.hp2 others(4): Show HG00741.hp1 HG01928.hp1 HG01978.hp2 HG03710.hp2 NA18940.hp2 NA18959.hp1 NA18993.hp2	a0003 a0006 a0003 a0006	a0003c0004 a0006c0007 a0003c0004 a0006c0007	a0003c0004t0001 a0006c0007t0003 a0003c0004t0001 a0006c0007t0003	a0003c0004t0001g0003 a0003c0004t0001g0004 a0003c0004t0001g0014 others(4): Show a0003c0004t0001g0003 a0003c0004t0001g0004 a0003c0004t0001g0014 a0003c0004t0001g0191 a0003c0004t0001g0193 a0003c0004t0001g0197 a0006c0007t0003g0008	7	403	0.0174	1	c.102 others(5): Show c.1029dupG	p.Tyr others(5): Show p.Tyr344fs	B4GALT2	ENSG00000117411.18	transcript	ENST00000372324.6	protein_coding	7/7	1384/2193	1030/1119	344/372	INFO_REALIGN_3_PRIME	chr1	TogoVar
BAIAP3_chr16_1328645_1354439	1346751	C C	CGGAGGCC others(94): Show CGGAGGCCCTGTGGGAGCTACTCCTCCAGGCCATTCTGCAGGTGGGGCCA GCGGGGCAGGTGGGGCTGGCCCGTGGTCACTGATGCTGCCCTGCAGGGTG CT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01069.hp2 HG02970.hp2 HG03486.hp2 HG01069.hp2 HG02970.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0100 a0001c0001t0001g0131 a0001c0001t0001g0132	3	354	0.0085	101	c.264 others(113): Show c.2643-54_2689dupTGGGGCCAGCGGGGCAGGTGGGGCTGGCCCGTG GTCACTGATGCTGCCCTGCAGGGTGCTGGAGGCCCTGTGGGAGCTACTCC TCCAGGCCATTCTGCAGG	p.Ala others(5): Show p.Ala897fs	BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	28/34	2805/4531	2690/3459	897/1152	INFO_REALIGN_3_PRIME	chr16	TogoVar
BAIAP3_chr16_1328645_1354439	1346751	CGGAGGCC others(94): Show CGGAGGCCCTGTGGGAGCTACTCCTCCAGGCCATTCTGCAGGTGGGGCCA GCGGGGCAGGTGGGGCTGGCCCGTGGTCACTGATGCTGCCCTGCAGGGTG CT	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01123.hp1 HG01123.hp1	a0010 a0010	a0010c0035 a0010c0035	a0010c0035t0008 a0010c0035t0008	a0010c0035t0008g0082 a0010c0035t0008g0082	1	352	0.0028	-101	c.264 others(12): Show c.2643-54_2689del	p.Arg others(5): Show p.Arg881fs	BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	28/34		2643/3459	881/1152	INFO_REALIGN_3_PRIME	chr16	TogoVar
BBS12_chr4_122727704_122749939	122742768	G G	GCAATATC others(27): Show GCAATATCAGAATGCTTGTGTGCAACAAGGCAACT	frameshift_variant frameshift_variant	HIGH	HG02922.hp1 HG02922.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0001 a0015c0015t0001	a0015c0015t0001g0082 a0015c0015t0001g0082	1	362	0.0028	34	c.877 others(41): Show c.877_910dupCAATATCAGAATGCTTGTGTGCAACAAGGCAACT	p.Cys others(5): Show p.Cys304fs	BBS12	ENSG00000181004.10	transcript	ENST00000314218.8	protein_coding	2/2	1102/3238	911/2133	304/710	INFO_REALIGN_3_PRIME	chr4	TogoVar
BBS4_chr15_72681207_72743473	72735139	GAAAATGC others(133): Show GAAAATGCCAAGAGAGCCTACGCAGAAGCAGTCCACCTGGATAAGTATGC ACTTTGTTGAGAATGGTACTGGCGGGGGTTGGACTCTCCAAAGCCATGAG GTGGTGCCATACATAGCATTGGTGCTGCCTGTGTCAGCCCA	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00558.hp2 HG00558.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0033 a0006c0012t0001g0033	1	396	0.0025	-140	c.106 others(12): Show c.1064_1106+97del	p.Glu others(5): Show p.Glu355fs	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	13/16	1085/2467	1064/1560	355/519		chr15	TogoVar
BCL3_chr19_44743708_44765044	44757112	C C	CACGGCCA others(4): Show CACGGCCAGAGG	frameshift_variant frameshift_variant	HIGH	NA18948.hp1 NA18948.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0006 a0004c0006t0006	a0004c0006t0006g0137 a0004c0006t0006g0137	1	342	0.0029	11	c.615 others(18): Show c.615_616insACGGCCAGAGG	p.Gln others(5): Show p.Gln206fs	BCL3	ENSG00000069399.15	transcript	ENST00000164227.10	protein_coding	4/9	699/1877	616/1365	206/454		chr19	TogoVar
BDP1_chr5_71450651_71572820	71516170	GGACAGAG others(10): Show GGACAGAGGCAAATAGTA	G G	frameshift_variant frameshift_variant	HIGH	NA19091.hp1 NA19091.hp1	a0042 a0042	a0042c0025 a0042c0025	a0042c0025t0002 a0042c0025t0002	a0042c0025t0002g0070 a0042c0025t0002g0070	1	324	0.0031	-17	c.476 others(26): Show c.4764_4780delGAGGCAAATAGTAGACA	p.Gln others(6): Show p.Gln1590fs	BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	21/39	4991/11037	4764/7875	1588/2624	INFO_REALIGN_3_PRIME	chr5	TogoVar
BDP1_chr5_71450651_71572820	71516218	G G	GCAAGGAT others(3): Show GCAAGGATAAT	frameshift_variant frameshift_variant	HIGH	NA19091.hp1 NA19091.hp1	a0042 a0042	a0042c0025 a0042c0025	a0042c0025t0002 a0042c0025t0002	a0042c0025t0002g0070 a0042c0025t0002g0070	1	324	0.0031	10	c.480 others(19): Show c.4807_4808insCAAGGATAAT	p.Glu others(6): Show p.Glu1603fs	BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	21/39	5035/11037	4808/7875	1603/2624		chr5	TogoVar
BHLHE41_chr12_26115030_26130037	26122665	A A	AAACAAAA others(4): Show AAACAAAAAAAC	frameshift_variant frameshift_variant	HIGH	NA19065.hp1 NA19065.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0035 a0009c0012t0001g0035	1	420	0.0024	11	c.849 others(18): Show c.849_850insGTTTTTTTGTT	p.Ser others(5): Show p.Ser284fs	BHLHE41	ENSG00000123095.6	transcript	ENST00000242728.5	protein_coding	5/5	1107/3743	849/1449	283/482		chr12	TogoVar
BIN2_chr12_51276038_51329174	51313889	C C	CAATTTCT others(3): Show CAATTTCTGCA	frameshift_variant frameshift_variant	HIGH	HG04204.hp2 HG04204.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0001 a0010c0020t0001	a0010c0020t0001g0346 a0010c0020t0001g0346	1	398	0.0025	10	c.86_ others(15): Show c.86_95dupTGCAGAAATT	p.Leu others(4): Show p.Leu32fs	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	2/13	167/2231	95/1698	32/565		chr12	TogoVar
BIRC3_chr11_102312484_102344403	102336137	T T	TTTTAGTA others(6): Show TTTTAGTAAAAGGA	frameshift_variant frameshift_variant	HIGH	NA18969.hp1 NA18969.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0032 a0006c0010t0032	a0006c0010t0032g0094 a0006c0010t0032g0094	1	382	0.0026	13	c.149 others(22): Show c.1497_1509dupTTTAGTAAAAGGA	p.Asn others(5): Show p.Asn504fs	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding	7/9	4271/6877	1510/1815	504/604	INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC7_chr20_63230905_63245495	63236173	C C	CGCAGGAG others(39): Show CGCAGGAGCGCTGTGGACCCCGCTCTCTGGGCAGCCTGCTGTCCTAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18992.hp1 NA18992.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0027 a0010c0019t0001g0027	1	298	0.0034	46	c.112 others(53): Show c.112_113insTGCTGTCCTAGGCAGGAGCGCTGTGGACCCCGCTCTCT GGGCAGCC	p.Pro others(4): Show p.Pro38fs	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding	1/7	305/1334	113/897	38/298	INFO_REALIGN_3_PRIME	chr20	TogoVar
BIRC7_chr20_63230905_63245495	63237961	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00735.hp1 HG00741.hp2 HG01106.hp2 others(9): Show HG00735.hp1 HG00741.hp2 HG01106.hp2 HG01928.hp2 HG02135.hp1 HG02145.hp2 HG02970.hp2 NA18992.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp2 NA19091.hp1	a0003 a0003	a0003c0008 a0003c0010 a0003c0011 others(1): Show a0003c0008 a0003c0010 a0003c0011 a0003c0021	a0003c0008t0001 a0003c0010t0001 a0003c0011t0001 others(1): Show a0003c0008t0001 a0003c0010t0001 a0003c0011t0001 a0003c0021t0001	a0003c0008t0001g0003 a0003c0008t0001g0018 a0003c0010t0001g0001 others(3): Show a0003c0008t0001g0003 a0003c0008t0001g0018 a0003c0010t0001g0001 a0003c0010t0001g0015 a0003c0011t0001g0002 a0003c0021t0001g0005	12	298	0.0403	1	c.412 others(4): Show c.412dupG	p.Asp others(5): Show p.Asp138fs	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding	2/7	605/1334	413/897	138/298	INFO_REALIGN_3_PRIME	chr20	TogoVar
BLACAT1_chr1_205429886_205461045	205440933	CCGTCTCC others(4): Show CCGTCTCCCGCT	C C	frameshift_variant frameshift_variant	HIGH	NA19010.hp2 NA19010.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0135 a0005c0005t0004g0135	1	392	0.0026	-11	c.83_ others(16): Show c.83_93delAGCGGGAGACG	p.Glu others(4): Show p.Glu28fs	BLACAT1	ENSG00000281406.2	transcript	ENST00000629624.3	protein_coding	2/2	258/6306	83/102	28/33		chr1	TogoVar
BLTP1_chr4_122147331_122367752	122250531	CCCTTCCT others(4): Show CCCTTCCTCAGA	C C	frameshift_variant frameshift_variant	HIGH	NA18974.hp2 NA18974.hp2	a0017 a0017	a0017c0028 a0017c0028	a0017c0028t0001 a0017c0028t0001	a0017c0028t0001g0058 a0017c0028t0001g0058	1	334	0.0030	-11	c.588 others(20): Show c.5882_5892delCTTCCTCAGAC	p.Pro others(6): Show p.Pro1961fs	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	37/88	6257/16162	5882/15282	1961/5093	INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78911258	GCAAGAAG others(9): Show GCAAGAAGGTGAATGTA	G G	frameshift_variant frameshift_variant	HIGH	HG02040.hp2 HG02040.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0020 a0012c0025t0020	a0012c0025t0020g0201 a0012c0025t0020g0201	1	202	0.0050	-16	c.271 others(25): Show c.2718_2733delGGTGAATGTACAAGAA	p.Lys others(5): Show p.Lys906fs	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	16/16	2912/8012	2718/3486	906/1161	INFO_REALIGN_3_PRIME	chr4	TogoVar
BPY2_chrY_22979263_23010465	22992357	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19009.hp1 NA19009.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0008 a0004c0004t0001g0008	1	51	0.0196	1	c.18d others(3): Show c.18dupC	p.Arg others(3): Show p.Arg7fs	BPY2	ENSG00000183753.10	transcript	ENST00000331070.8	protein_coding	4/9	351/1206	19/321	7/106	INFO_REALIGN_3_PRIME	chrY	TogoVar
BPY2_chrY_22979263_23010465	22992357	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0031 a0003c0002t0003g0031	1	51	0.0196	-1	c.18d others(3): Show c.18delC	p.Arg others(3): Show p.Arg7fs	BPY2	ENSG00000183753.10	transcript	ENST00000331070.8	protein_coding	4/9	350/1206	18/321	6/106	INFO_REALIGN_3_PRIME	chrY	TogoVar
BPY2_chrY_22979263_23010465	22992368	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19009.hp1 NA19009.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0008 a0004c0004t0001g0008	1	52	0.0192	1	c.27d others(3): Show c.27dupG	p.Thr others(4): Show p.Thr10fs	BPY2	ENSG00000183753.10	transcript	ENST00000331070.8	protein_coding	4/9	360/1206	28/321	10/106	INFO_REALIGN_3_PRIME	chrY	TogoVar
BPY2_chrY_22979263_23010465	22997485	CG CG	C C	frameshift_variant frameshift_variant	HIGH	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0014 a0002c0003t0001g0014	1	52	0.0192	-1	c.233 others(4): Show c.233delG	p.Gly others(4): Show p.Gly78fs	BPY2	ENSG00000183753.10	transcript	ENST00000331070.8	protein_coding	6/9	565/1206	233/321	78/106	INFO_REALIGN_3_PRIME	chrY	TogoVar
BRCA1_chr17_43039295_43130364	43124023	GGACACTC others(24): Show GGACACTCTAAGATTTTCTGCATAGCATTAAT	G G	frameshift_variant frameshift_variant	HIGH	NA18955.hp1 NA18955.hp1	a0018 a0018	a0018c0028 a0018c0028	a0018c0028t0002 a0018c0028t0002	a0018c0028t0002g0100 a0018c0028t0002g0100	1	274	0.0036	-31	c.43_ others(36): Show c.43_73delATTAATGCTATGCAGAAAATCTTAGAGTGTC	p.Ile others(4): Show p.Ile15fs	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	2/23	186/7088	43/5592	15/1863		chr17	TogoVar
BRD2_chr6_32963594_32986501	32980395	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG02109.hp2 HG02145.hp1 HG02572.hp1 others(3): Show HG02109.hp2 HG02145.hp1 HG02572.hp1 NA18998.hp2 NA19001.hp1 NA19067.hp1	a0003 a0003	a0003c0012 a0003c0029 a0003c0030 a0003c0012 a0003c0029 a0003c0030	a0003c0012t0001 a0003c0012t0012 a0003c0029t0002 others(1): Show a0003c0012t0001 a0003c0012t0012 a0003c0029t0002 a0003c0030t0001	a0003c0012t0001g0003 a0003c0012t0001g0007 a0003c0012t0012g0014 others(3): Show a0003c0012t0001g0003 a0003c0012t0001g0007 a0003c0012t0012g0014 a0003c0012t0012g0015 a0003c0029t0002g0004 a0003c0030t0001g0008	6	468	0.0128	1	c.220 others(5): Show c.2203dupG	p.Glu others(5): Show p.Glu735fs	BRD2	ENSG00000204256.14	transcript	ENST00000374825.9	protein_coding	12/13	3971/4956	2204/2406	735/801	INFO_REALIGN_3_PRIME	chr6	TogoVar
BRD3OS_chr9_134020481_134036587	134026932	TGGTCCGA others(18): Show TGGTCCGAGACAAAAACAAGCTCGAG	T T	frameshift_variant frameshift_variant	HIGH	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0002 a0002c0002t0022g0002	1	332	0.0030	-25	c.187 others(32): Show c.187_211delGTCCGAGACAAAAACAAGCTCGAGG	p.Val others(4): Show p.Val63fs	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding	3/3	1029/5682	187/255	63/84	INFO_REALIGN_3_PRIME	chr9	TogoVar
BRD4_chr19_15230519_15337539	15238833	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG01175.hp2 HG01496.hp1 HG01952.hp2 others(9): Show HG01175.hp2 HG01496.hp1 HG01952.hp2 HG02027.hp1 HG02056.hp1 HG02257.hp2 HG02572.hp1 HG02622.hp2 HG02738.hp1 HG03579.hp2 NA18940.hp2 NA18972.hp2	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0007 a0003c0006 a0003c0011 others(2): Show a0002c0007 a0003c0006 a0003c0011 a0003c0026 a0009c0033	a0002c0007t0003 a0002c0007t0033 a0003c0006t0001 others(6): Show a0002c0007t0003 a0002c0007t0033 a0003c0006t0001 a0003c0006t0003 a0003c0006t0005 a0003c0011t0058 a0003c0011t0061 a0003c0026t0073 a0009c0033t0074	a0002c0007t0003g0145 a0002c0007t0003g0168 a0002c0007t0033g0006 others(9): Show a0002c0007t0003g0145 a0002c0007t0003g0168 a0002c0007t0033g0006 a0003c0006t0001g0091 a0003c0006t0003g0171 a0003c0006t0005g0031 a0003c0006t0005g0099 a0003c0006t0005g0117 a0003c0011t0058g0039 a0003c0011t0061g0101 a0003c0026t0073g0181 a0009c0033t0074g0152	12	206	0.0583	1	c.392 others(5): Show c.3929dupC	p.Gln others(6): Show p.Gln1311fs	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	19/20	4213/7231	3929/4089	1310/1362		chr19	TogoVar
BRD4_chr19_15230519_15337539	15244475	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00741.hp1 HG01109.hp1 HG01175.hp2 others(16): Show HG00741.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02622.hp2 HG03098.hp2 HG03225.hp2 HG03486.hp2 HG03516.hp2 HG03942.hp2 NA18995.hp1 NA19009.hp2	a0002 a0005 a0011 a0002 a0005 a0011	a0002c0003 a0002c0007 a0002c0018 others(7): Show a0002c0003 a0002c0007 a0002c0018 a0002c0022 a0002c0023 a0002c0031 a0005c0014 a0005c0019 a0005c0020 a0011c0029	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(14): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0008 a0002c0003t0017 a0002c0003t0038 a0002c0007t0003 a0002c0007t0033 a0002c0018t0018 a0002c0022t0049 a0002c0023t0016 a0002c0031t0059 a0005c0014t0002 a0005c0019t0001 a0005c0020t0025 a0011c0029t0010	a0002c0003t0001g0048 a0002c0003t0002g0090 a0002c0003t0003g0193 others(16): Show a0002c0003t0001g0048 a0002c0003t0002g0090 a0002c0003t0003g0193 a0002c0003t0005g0064 a0002c0003t0008g0200 a0002c0003t0008g0205 a0002c0003t0017g0016 a0002c0003t0038g0013 a0002c0007t0003g0145 a0002c0007t0003g0168 a0002c0007t0033g0006 a0002c0018t0018g0036 a0002c0022t0049g0029 a0002c0023t0016g0176 a0002c0031t0059g0129 a0005c0014t0002g0106 a0005c0019t0001g0076 a0005c0020t0025g0192 a0011c0029t0010g0074	19	206	0.0922	1	c.233 others(5): Show c.2336dupC	p.Pro others(5): Show p.Pro780fs	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	13/20	2620/7231	2336/4089	779/1362		chr19	TogoVar
BRD4_chr19_15230519_15337539	15244535	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00639.hp2 HG00741.hp1 others(7): Show HG00140.hp1 HG00639.hp2 HG00741.hp1 HG01243.hp2 HG01952.hp1 HG02109.hp1 HG02895.hp2 HG03654.hp1 HG03942.hp2 HG04204.hp2	a0004 a0005 a0004 a0005	a0004c0005 a0004c0021 a0005c0014 others(2): Show a0004c0005 a0004c0021 a0005c0014 a0005c0019 a0005c0020	a0004c0005t0001 a0004c0005t0006 a0004c0005t0009 others(6): Show a0004c0005t0001 a0004c0005t0006 a0004c0005t0009 a0004c0005t0017 a0004c0005t0045 a0004c0021t0015 a0005c0014t0002 a0005c0019t0001 a0005c0020t0025	a0004c0005t0001g0053 a0004c0005t0006g0150 a0004c0005t0009g0009 others(7): Show a0004c0005t0001g0053 a0004c0005t0006g0150 a0004c0005t0009g0009 a0004c0005t0009g0011 a0004c0005t0017g0025 a0004c0005t0045g0122 a0004c0021t0015g0115 a0005c0014t0002g0106 a0005c0019t0001g0076 a0005c0020t0025g0192	10	206	0.0485	1	c.227 others(5): Show c.2276dupC	p.Pro others(5): Show p.Pro760fs	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	13/20	2560/7231	2276/4089	759/1362		chr19	TogoVar
BRD4_chr19_15230519_15337539	15264415	T T	TCATGTCC others(15): Show TCATGTCCATGGGGTGCTTGATG	frameshift_variant frameshift_variant	HIGH	HG02056.hp1 HG02056.hp1	a0009 a0009	a0009c0033 a0009c0033	a0009c0033t0074 a0009c0033t0074	a0009c0033t0074g0152 a0009c0033t0074g0152	1	206	0.0049	22	c.117 others(31): Show c.1179_1200dupCATCAAGCACCCCATGGACATG	p.Ser others(5): Show p.Ser401fs	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	6/20	1484/7231	1200/4089	400/1362		chr19	TogoVar
BRDT_chr1_91944401_92019421	91977038	TGTAGGTT others(20): Show TGTAGGTTACAAAAGGTGTGAAGAGGAA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19059.hp1 NA19059.hp1	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0002 a0015c0016t0002	a0015c0016t0002g0069 a0015c0016t0002g0069	1	316	0.0032	-27	c.619 others(36): Show c.619-4_641delGTAGGTTACAAAAGGTGTGAAGAGGAA	p.Val others(5): Show p.Val207fs	BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	6/19		619/2844	207/947		chr1	TogoVar
BRI3_chr7_98276686_98296545	98281908	CGCCGCCG others(27): Show CGCCGCCGCCCTACCCCTACCTCGTCACAGGTGGG	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19086.hp1 NA19086.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0047 a0003c0006t0002g0047	1	412	0.0024	-34	c.114 others(43): Show c.114_142+5delGCCGCCGCCCTACCCCTACCTCGTCACAGGTGGG	p.Pro others(4): Show p.Pro39fs	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding	1/3	224/790	114/378	38/125		chr7	TogoVar
BRSK1_chr19_55278997_55317562	55304073	CCACGGGT others(7): Show CCACGGGTCTGTCCT	C C	frameshift_variant frameshift_variant	HIGH	HG01169.hp1 HG01169.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0101 a0004c0008t0001g0101	1	336	0.0030	-14	c.131 others(23): Show c.1312_1325delACGGGTCTGTCCTC	p.Thr others(5): Show p.Thr438fs	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	13/19	1758/3277	1312/2337	438/778	INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK2_chr11_1384934_1467689	1456402	AAGGCCAC others(18): Show AAGGCCACGGGGGGGCCAGCCGTGTT	A A	frameshift_variant frameshift_variant	HIGH	NA18953.hp2 NA18953.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0004 a0004c0012t0004	a0004c0012t0004g0067 a0004c0012t0004g0067	1	358	0.0028	-25	c.172 others(34): Show c.1724_1748delAGGCCACGGGGGGGCCAGCCGTGTT	p.Lys others(5): Show p.Lys575fs	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	17/20	2075/4528	1724/2211	575/736		chr11	TogoVar
BSND_chr1_54993933_55022172	55008213	GCCCCCTG others(4): Show GCCCCCTGGCCT	G G	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19055.hp2 NA19055.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0091 a0005c0007t0091	a0005c0007t0091g0029 a0005c0007t0091g0029	1	446	0.0022	-11	c.549 others(18): Show c.549_559delCCCCCTGGCCT	p.Pro others(5): Show p.Pro184fs	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding	4/4	803/9761	549/963	183/320		chr1	TogoVar
BTBD2_chr19_1980448_2020714	2015545	GGCGGCGG others(4): Show GGCGGCGGCGGC	G G	frameshift_variant frameshift_variant	HIGH	HG02602.hp1 HG02602.hp1	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0002 a0010c0023t0002	a0010c0023t0002g0015 a0010c0023t0002g0015	1	362	0.0028	-11	c.148 others(18): Show c.148_158delGCCGCCGCCGC	p.Ala others(4): Show p.Ala50fs	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	1/9	169/2629	148/1578	50/525		chr19	TogoVar
BTBD2_chr19_1980448_2020714	2015548	GGCGGCGG others(4): Show GGCGGCGGCGGC	G G	frameshift_variant frameshift_variant	HIGH	NA19087.hp2 NA19087.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0017 a0004c0012t0017	a0004c0012t0017g0354 a0004c0012t0017g0354	1	362	0.0028	-11	c.145 others(18): Show c.145_155delGCCGCCGCCGC	p.Ala others(4): Show p.Ala49fs	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	1/9	166/2629	145/1578	49/525		chr19	TogoVar
BTBD3_chr20_11912893_11931595	11919747	C C	CCATGCGA others(13): Show CCATGCGATGTTTTACGGAGA	frameshift_variant frameshift_variant	HIGH	NA18942.hp2 NA18942.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0007 a0005c0010t0007	a0005c0010t0007g0001 a0005c0010t0007g0001	1	442	0.0023	20	c.448 others(27): Show c.448_467dupCATGCGATGTTTTACGGAGA	p.Glu others(5): Show p.Glu156fs	BTBD3	ENSG00000132640.15	transcript	ENST00000378226.7	protein_coding	3/4	851/4881	468/1569	156/522	INFO_REALIGN_3_PRIME	chr20	TogoVar
BTNL2_chr6_32388339_32412181	32403192	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00673.hp1 HG00738.hp2 others(66): Show HG00423.hp1 HG00673.hp1 HG00738.hp2 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp2 HG01884.hp2 HG01952.hp2 HG02027.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp2 HG03516.hp2 HG03540.hp2 HG03704.hp2 NA18522.hp1 NA18522.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18953.hp1 NA18973.hp2 NA18978.hp2 NA18981.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19054.hp1 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19091.hp1 NA19240.hp2 NA20905.hp2	a0003 a0006 a0003 a0006	a0003c0004 a0003c0008 a0003c0012 others(3): Show a0003c0004 a0003c0008 a0003c0012 a0003c0020 a0003c0021 a0006c0007	a0003c0004t0002 a0003c0008t0001 a0003c0012t0002 others(3): Show a0003c0004t0002 a0003c0008t0001 a0003c0012t0002 a0003c0020t0002 a0003c0021t0002 a0006c0007t0001	a0003c0004t0002g0043 a0003c0004t0002g0071 a0003c0004t0002g0072 others(35): Show a0003c0004t0002g0043 a0003c0004t0002g0071 a0003c0004t0002g0072 a0003c0004t0002g0073 a0003c0004t0002g0074 a0003c0004t0002g0075 a0003c0004t0002g0076 a0003c0004t0002g0077 a0003c0004t0002g0078 a0003c0004t0002g0079 a0003c0004t0002g0080 a0003c0004t0002g0081 a0003c0004t0002g0082 a0003c0004t0002g0083 a0003c0004t0002g0084 a0003c0004t0002g0176 a0003c0004t0002g0177 a0003c0004t0002g0178 a0003c0004t0002g0179 a0003c0004t0002g0180 a0003c0004t0002g0181 a0003c0004t0002g0182 a0003c0004t0002g0183 a0003c0004t0002g0184 a0003c0008t0001g0006 a0003c0008t0001g0027 a0003c0008t0001g0118 a0003c0008t0001g0119 a0003c0008t0001g0120 a0003c0008t0001g0121 a0003c0008t0001g0122 a0003c0012t0002g0070 a0003c0020t0002g0175 a0003c0021t0002g0185 a0006c0007t0001g0005 a0006c0007t0001g0029 a0006c0007t0001g0054 a0006c0007t0001g0123	69	452	0.1527	-1	c.451 others(4): Show c.451delC	p.His others(5): Show p.His151fs	BTNL2	ENSG00000204290.11	transcript	ENST00000454136.8	protein_coding	3/8	509/1564	451/1449	151/482		chr6	TogoVar
BUB1B_chr15_40156069_40226123	40170479	A A	AAGAACAA others(57): Show AAGAACAAAAGTACATGTTCAATTTAAAATGTGTTCTTATCTTTTTCCTC CCATTTAGGTATATC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	350	0.0029	64	c.240 others(74): Show c.240-55_248dupAACAAAAGTACATGTTCAATTTAAAATGTGTTCTT ATCTTTTTCCTCCCATTTAGGTATATCAG	p.Ser others(4): Show p.Ser83fs	BUB1B	ENSG00000156970.13	transcript	ENST00000287598.11	protein_coding	4/23	401/3669	249/3153	83/1050	INFO_REALIGN_3_PRIME	chr15	TogoVar
BUD13_chr11_116743173_116777987	116763184	G G	GCCCCCCC others(40): Show GCCCCCCCCCCCCCCCCCCCCCCCCCACCCAACCCCCCCCCCCCCCCC	frameshift_variant frameshift_variant	HIGH	NA18966.hp2 NA18966.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0002 a0013c0016t0002	a0013c0016t0002g0135 a0013c0016t0002g0135	1	438	0.0023	47	c.404 others(54): Show c.404_405insGGGGGGGGGGGGGGGGTTGGGTGGGGGGGGGGGGGGGG GGGGGGGGG	p.Pro others(5): Show p.Pro136fs	BUD13	ENSG00000137656.12	transcript	ENST00000260210.5	protein_coding	4/10	427/2192	404/1860	135/619		chr11	TogoVar
C10orf95_chr10_102444837_102456543	102450822	GCGGCGCA others(4): Show GCGGCGCAGGGC	G G	frameshift_variant frameshift_variant	HIGH	HG03579.hp1 HG03579.hp1	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0002 a0006c0004t0002	a0006c0004t0002g0014 a0006c0004t0002g0014	1	450	0.0022	-11	c.261 others(18): Show c.261_271delGCCCTGCGCCG	p.Pro others(4): Show p.Pro88fs	C10orf95	ENSG00000120055.7	transcript	ENST00000625129.1	protein_coding	2/2	483/1469	261/642	87/213		chr10	TogoVar
C11orf16_chr11_8915076_8937947	8921341	CAT CAT	C C	frameshift_variant frameshift_variant	HIGH	HG01109.hp2 HG01943.hp1 HG02109.hp1 others(9): Show HG01109.hp2 HG01943.hp1 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02976.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2	a0007 a0011 a0015 a0007 a0011 a0015	a0007c0007 a0011c0011 a0015c0019 a0007c0007 a0011c0011 a0015c0019	a0007c0007t0001 a0011c0011t0001 a0015c0019t0001 a0007c0007t0001 a0011c0011t0001 a0015c0019t0001	a0007c0007t0001g0025 a0007c0007t0001g0028 a0007c0007t0001g0055 others(6): Show a0007c0007t0001g0025 a0007c0007t0001g0028 a0007c0007t0001g0055 a0007c0007t0001g0056 a0007c0007t0001g0066 a0007c0007t0001g0079 a0007c0007t0001g0081 a0011c0011t0001g0026 a0015c0019t0001g0045	12	408	0.0294	-2	c.137 others(11): Show c.1377_1378delAT	p.Ile others(5): Show p.Ile459fs	C11orf16	ENSG00000176029.14	transcript	ENST00000326053.10	protein_coding	6/7	1443/1866	1377/1404	459/467		chr11	TogoVar

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