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	distance	status	chr	external
BOD1L1_chr4_13563738_13632725	13569188	C C	CTTCTACC others(8): Show CTTCTACCAATTCATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0131 a0002c0002t0010g0131	1	256	0.0039	15	c.82 others(24): Show c.822_*823insAATGAATTGGTAGAA		BOD1L1	ENSG00000038219.13	transcript	ENST00000040738.10	protein_coding	26/26				822		chr4	TogoVar
BOLA2_chr16_29448593_29459351	29450761	A A	AAATATAT others(8): Show AAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	52	0.0192	15	c.28 others(26): Show c.2871_*2872insATATATATATATATT		BOLA2	ENSG00000183336.9	transcript	ENST00000330978.4	protein_coding					2831		chr16	TogoVar
BOP1_chr8_144257045_144296438	144277805	G G	GGGCAGGG others(8): Show GGGCAGGGGCGGTGCA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01106.hp1 HG01243.hp2 others(13): Show HG00609.hp2 HG01106.hp1 HG01243.hp2 HG01261.hp1 HG01928.hp1 HG02055.hp1 HG02083.hp1 HG02602.hp2 HG02683.hp2 HG04184.hp2 NA18954.hp2 NA18969.hp2 NA19012.hp2 NA19057.hp1 NA19065.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0025 a0001c0001 a0001c0003 a0001c0025	a0001c0001t0001 a0001c0003t0001 a0001c0025t0001 a0001c0001t0001 a0001c0003t0001 a0001c0025t0001	a0001c0001t0001g0084 a0001c0001t0001g0098 a0001c0001t0001g0159 others(13): Show a0001c0001t0001g0084 a0001c0001t0001g0098 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0189 a0001c0001t0001g0229 a0001c0001t0001g0239 a0001c0001t0001g0263 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0292 a0001c0001t0001g0337 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0025t0001g0355	16	217	0.0737	15	c.310 others(32): Show c.310-1502_310-1501insTGCACCGCCCCTGCC		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144277820	G G	GGGCAGGG others(8): Show GGGCAGGGGCGGTGCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA20905.hp1 HG02109.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0199 a0001c0002t0001g0173 a0001c0001t0001g0199 a0001c0002t0001g0173	2	126	0.0159	15	c.310 others(32): Show c.310-1517_310-1516insTGCACCGCCCCTGCC		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144283201	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01256.hp2 others(19): Show HG01069.hp1 HG01071.hp2 HG01256.hp2 HG02015.hp1 HG02074.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG03098.hp1 HG03130.hp1 HG03669.hp2 HG03710.hp1 NA18906.hp1 NA18940.hp1 NA19066.hp1 NA19084.hp2 NA19240.hp2 NA20129.hp2 NA20905.hp1	a0001 a0008 a0011 a0001 a0008 a0011	a0001c0001 a0008c0024 a0011c0029 a0001c0001 a0008c0024 a0011c0029	a0001c0001t0001 a0008c0024t0001 a0011c0029t0001 a0001c0001t0001 a0008c0024t0001 a0011c0029t0001	a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0024 others(16): Show a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0070 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0199 a0001c0001t0001g0220 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0336 a0001c0001t0001g0360 a0008c0024t0001g0150 a0011c0029t0001g0344	22	124	0.1774	15	c.309 others(32): Show c.309+5879_309+5893dupTTTTTTTTTTTTTTT		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BORA_chr13_72722923_72761196	72724701	A A	ATATATAT others(8): Show ATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	361	0.0028	15	c.-33 others(26): Show c.-3322_-3321insTATATATATATATAT		BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding					3221		chr13	TogoVar
BORCS8_chr19_19171906_19197152	19177696	G G	GAGAAAAG others(8): Show GAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG01257.hp2 others(3): Show HG00733.hp1 HG00733.hp2 HG01257.hp2 NA18950.hp1 NA18974.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0023 a0001c0001t0001g0096 a0001c0001t0001g0107 others(3): Show a0001c0001t0001g0023 a0001c0001t0001g0096 a0001c0001t0001g0107 a0001c0001t0005g0022 a0001c0001t0005g0088 a0001c0001t0005g0204	6	233	0.0258	15	c.43 others(30): Show c.43-251_*43-237dupTTTCTTTTCTTTTCT		BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5						chr19	TogoVar
BPGM_chr7_134641853_134684816	134658892	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	37	0.0270	15	c.-61 others(32): Show c.-61-2545_-61-2544insTTTTTTTTTTTTTTT		BPGM	ENSG00000172331.12	transcript	ENST00000344924.8	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
BPGM_chr7_134641853_134684816	134658895	T T	TTTTTTAT others(8): Show TTTTTTATTTTTTTTA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0054 a0001c0001t0010g0054	1	360	0.0028	15	c.-61 others(32): Show c.-61-2547_-61-2546insATTTTTTTTATTTTT		BPGM	ENSG00000172331.12	transcript	ENST00000344924.8	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
BPIFA2_chr20_33163159_33186412	33171978	G G	GGTAAGAA others(8): Show GGTAAGAACCAGCAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	376	0.0027	15	c.158 others(30): Show c.158-953_158-952insTAAGAACCAGCAAAG		BPIFA2	ENSG00000131050.11	transcript	ENST00000354932.6	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33231205	G G	GGAAGGAA others(8): Show GGAAGGAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	254	0.0039	15	c.35 others(26): Show c.3588_*3589insGAAGGAAGAAAGAAA		BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding					3400		chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33087753	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	81	0.0123	15	c.927 others(32): Show c.927-1212_927-1211insCACACACACACACAA		BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	7/17					INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFC_chr22_32408845_32469446	32423577	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	164	0.0061	15	c.121 others(34): Show c.1218-4174_1218-4173insACACACACACACACA		BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16						chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424574	T T	TTTCTTCT others(8): Show TTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02615.hp1 HG03492.hp2 HG00738.hp2 HG02615.hp1 HG03492.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0006c0006 a0003c0003 a0006c0006	a0003c0003t0002 a0006c0006t0001 a0003c0003t0002 a0006c0006t0001	a0003c0003t0002g0013 a0006c0006t0001g0073 a0006c0006t0001g0159 a0003c0003t0002g0013 a0006c0006t0001g0073 a0006c0006t0001g0159	3	373	0.0080	15	c.121 others(34): Show c.1218-5185_1218-5171dupGAAGAAGAAGAAGAA		BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16						chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424600	T T	TCTTCTTC others(8): Show TCTTCTTCTTCTTCTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	375	0.0027	15	c.121 others(34): Show c.1218-5197_1218-5196insGAGAAGAAGAAGAAG		BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16						chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424638	T T	TCTCCTCC others(8): Show TCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0028 a0006c0006t0001g0028	1	330	0.0030	15	c.121 others(34): Show c.1218-5235_1218-5234insGAGGAGGAGGAGGAG		BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16						chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424642	C C	CTCTTCTT others(8): Show CTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG01346.hp1 others(14): Show HG00140.hp1 HG00438.hp2 HG01346.hp1 HG01515.hp2 HG01934.hp2 HG01981.hp1 HG02015.hp1 HG02071.hp1 HG02083.hp2 HG02148.hp2 HG02735.hp1 HG04204.hp2 NA18947.hp1 NA18955.hp2 NA18963.hp2 NA18970.hp1 NA18978.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0004c0004t0001 a0005c0005t0001	a0001c0001t0001g0334 a0002c0002t0001g0059 a0002c0002t0001g0149 others(14): Show a0001c0001t0001g0334 a0002c0002t0001g0059 a0002c0002t0001g0149 a0002c0002t0001g0152 a0002c0002t0001g0175 a0002c0002t0001g0321 a0002c0002t0001g0358 a0002c0002t0001g0361 a0002c0002t0001g0390 a0002c0002t0002g0120 a0002c0002t0002g0145 a0002c0002t0002g0399 a0004c0004t0001g0287 a0005c0005t0001g0215 a0005c0005t0001g0248 a0005c0005t0001g0253 a0005c0005t0001g0315	17	265	0.0642	15	c.121 others(34): Show c.1218-5253_1218-5239dupAGAAGAAGAAGAAGA		BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16						chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424741	C C	CTCTTCTT others(8): Show CTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	369	0.0027	15	c.121 others(34): Show c.1218-5338_1218-5337insAGAAGAAGAAGAAGA		BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16						chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424786	T T	TTCCTCTT others(8): Show TTCCTCTTCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	420	0.0024	15	c.121 others(34): Show c.1218-5383_1218-5382insGGAGGAAGAAGAGGA		BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16						chr22	TogoVar
BPI_chr20_38299156_38342505	38302460	C C	CAATAATA others(8): Show CAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02145.hp2 HG02486.hp2 others(9): Show HG02080.hp1 HG02145.hp2 HG02486.hp2 HG03540.hp1 HG04228.hp2 NA18943.hp1 NA18974.hp1 NA18985.hp2 NA19009.hp1 NA19074.hp1 NA19075.hp2 NA19079.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0014 a0015	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0014c0016 a0015c0015	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 others(5): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0006t0002 a0014c0016t0002 a0015c0015t0001	a0001c0001t0002g0337 a0001c0001t0002g0343 a0001c0001t0003g0336 others(9): Show a0001c0001t0002g0337 a0001c0001t0002g0343 a0001c0001t0003g0336 a0002c0002t0001g0113 a0002c0002t0001g0120 a0003c0003t0001g0038 a0003c0003t0001g0041 a0004c0004t0001g0096 a0005c0006t0002g0009 a0014c0016t0002g0040 a0015c0015t0001g0307 a0015c0015t0001g0309	12	47	0.2553	15	c.-17 others(26): Show c.-1764_-1763insAATAATAATAATAAT		BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding					1695		chr20	TogoVar
BPI_chr20_38299156_38342505	38302496	T T	TAATAATA others(8): Show TAATAATAATAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0242 a0013c0014t0001g0242	1	416	0.0024	15	c.-17 others(26): Show c.-1728_-1727insAATAATAATAATAAA		BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding					1659		chr20	TogoVar
BPI_chr20_38299156_38342505	38339638	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02451.hp1 HG02451.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0107 a0004c0004t0001g0007 a0002c0002t0001g0107 a0004c0004t0001g0007	2	48	0.0417	15	c.24 others(26): Show c.2454_*2455insAAAAAAAAAAAAAAA		BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding					2134		chr20	TogoVar
BPNT1_chr1_220052482_220094788	220078547	A A	ATTTATAT others(8): Show ATTTATATATAATTAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00597.hp1 others(40): Show HG00408.hp2 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG01081.hp1 HG01361.hp1 HG01433.hp2 HG01891.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02135.hp2 HG02165.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02886.hp2 HG03654.hp2 HG03927.hp1 NA18522.hp2 NA18612.hp1 NA18940.hp1 NA18951.hp1 NA18960.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp1 NA18980.hp2 NA18985.hp1 NA19002.hp2 NA19005.hp1 NA19009.hp1 NA19043.hp1 NA19060.hp2 NA19075.hp2 NA19080.hp1 NA19089.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 others(38): Show a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0003g0253 a0001c0001t0004g0004 a0001c0001t0004g0079 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0207 a0001c0001t0004g0245 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0004g0321 a0001c0001t0004g0322 a0001c0001t0007g0097 a0001c0001t0007g0098 a0001c0001t0007g0206 a0001c0001t0007g0222 a0001c0001t0013g0339	43	422	0.1019	15	c.120 others(32): Show c.120+1179_120+1180insATAATTATATATAAA		BPNT1	ENSG00000162813.18	transcript	ENST00000322067.12	protein_coding	2/8						chr1	TogoVar
BPNT2_chr8_56952931_56998867	56980852	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	354	0.0028	15	c.388 others(30): Show c.388-656_388-655insGTGTGTGTGTGTGTG		BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding	1/4						chr8	TogoVar
BPTF_chr17_67820503_67989378	67843754	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0091 a0001c0003t0003g0091	1	75	0.0133	15	c.614 others(34): Show c.614-10172_614-10158dupTTTTTTTTTTTTTTT		BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTCCT others(8): Show CTTTTCCTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02895.hp2 others(1): Show HG01891.hp2 HG02145.hp1 HG02895.hp2 HG02896.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0005 a0003c0029 a0008c0028 a0001c0005 a0003c0029 a0008c0028	a0001c0005t0005 a0003c0029t0010 a0008c0028t0009 a0001c0005t0005 a0003c0029t0010 a0008c0028t0009	a0001c0005t0005g0267 a0001c0005t0005g0268 a0003c0029t0010g0099 others(1): Show a0001c0005t0005g0267 a0001c0005t0005g0268 a0003c0029t0010g0099 a0008c0028t0009g0002	4	102	0.0392	15	c.530 others(34): Show c.5304-1579_5304-1578insCCTTTCTTTTTTTTT		BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27					INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0253 a0002c0002t0002g0253	1	99	0.0101	15	c.530 others(34): Show c.5304-1578_5304-1564dupTTTTTTTTTTTTTTT		BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27					INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67979169	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0096 a0001c0003t0003g0096	1	21	0.0476	15	c.872 others(34): Show c.8727-3076_8727-3062dupAAAAAAAAAAAAAAA		BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	27/27					INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67984630	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01070.hp1 NA19078.hp1 HG00673.hp1 HG01070.hp1 NA19078.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0119 a0002c0002t0002g0181 a0002c0002t0002g0183 a0001c0001t0001g0119 a0002c0002t0002g0181 a0002c0002t0002g0183	3	17	0.1765	15	c.23 others(26): Show c.2342_*2343insTTTTTTTTTTTTTTT		BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding					253		chr17	TogoVar
BRAF_chr7_140714337_140929929	140732170	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	25	0.0400	15	c.240 others(34): Show c.2401+2432_2401+2446dupTTTTTTTTTTTTTTT		BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	19/19						chr7	TogoVar
BRAF_chr7_140714337_140929929	140906087	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0089 a0001c0003t0002g0089	1	67	0.0149	15	c.138 others(34): Show c.138+18464_138+18478dupTTTTTTTTTTTTTTT		BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/19						chr7	TogoVar
BRAF_chr7_140714337_140929929	140914964	C C	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0175 a0001c0001t0004g0175	1	34	0.0294	15	c.138 others(32): Show c.138+9587_138+9601dupCCCCCCCCCCCCCCC		BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/19						chr7	TogoVar
BRAF_chr7_140725665_140929929	140732170	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0038 a0001c0002t0051g0038	1	25	0.0400	15	c.24 others(26): Show c.2412_*2426dupTTTTTTTTTTTTTTT		BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	18/18				2426		chr7	TogoVar
BRAF_chr7_140725665_140929929	140906087	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0092 a0001c0003t0002g0092	1	69	0.0145	15	c.138 others(34): Show c.138+18464_138+18478dupTTTTTTTTTTTTTTT		BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	1/17						chr7	TogoVar
BRAF_chr7_140725665_140929929	140914964	C C	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0180 a0001c0001t0004g0180	1	35	0.0286	15	c.138 others(32): Show c.138+9587_138+9601dupCCCCCCCCCCCCCCC		BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	1/17						chr7	TogoVar
BRAP_chr12_111637146_111690956	111667698	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01884.hp1 HG01975.hp1 others(39): Show HG01256.hp1 HG01884.hp1 HG01975.hp1 HG02129.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02451.hp2 HG02622.hp2 HG02717.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03669.hp1 HG03710.hp2 HG04115.hp2 NA18941.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18955.hp1 NA18965.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18992.hp1 NA18994.hp2 NA19004.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19057.hp2 NA19062.hp2 NA19076.hp1 NA19081.hp2 NA19091.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 others(32): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0066 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0176 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0002t0001g0006 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0051 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0004g0031	42	108	0.3889	15	c.748 others(32): Show c.748-1926_748-1912dupTTTTTTTTTTTTTTT		BRAP	ENSG00000089234.16	transcript	ENST00000419234.9	protein_coding	5/11						chr12	TogoVar
BRAT1_chr7_2532810_2560524	2534710	T T	TCGCTTCC others(8): Show TCGCTTCCTAGATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0207 a0001c0003t0001g0207	1	422	0.0024	15	c.33 others(26): Show c.3358_*3359insCCCATCTAGGAAGCG		BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding					3099		chr7	TogoVar
BRAT1_chr7_2532810_2560524	2545363	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0285 a0001c0010t0004g0285	1	183	0.0055	15	c.283 others(30): Show c.283-322_283-308dupTTTTTTTTTTTTTTT		BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	3/13						chr7	TogoVar
BRAT1_chr7_2532810_2560524	2550669	A A	ACTACACT others(8): Show ACTACACTCTTTCCAT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	422	0.0024	15	c.128 others(32): Show c.128-3206_128-3192dupATGGAAAGAGTGTAG		BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13						chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	241	0.0041	15	c.127 others(32): Show c.127+2198_127+2199insATATATATATATATA		BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13						chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp2 NA18952.hp1 others(1): Show HG01891.hp2 HG02572.hp2 NA18952.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0029 a0001c0002 a0001c0029	a0001c0002t0001 a0001c0029t0001 a0001c0002t0001 a0001c0029t0001	a0001c0002t0001g0004 a0001c0002t0001g0082 a0001c0002t0001g0111 others(1): Show a0001c0002t0001g0004 a0001c0002t0001g0082 a0001c0002t0001g0111 a0001c0029t0001g0087	4	244	0.0164	15	c.127 others(32): Show c.127+2198_127+2199insAAATATATATATATA		BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13						chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19056.hp1 NA19083.hp1 NA18986.hp2 NA19056.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0160 a0001c0002t0001g0088 a0001c0001t0001g0002 a0001c0001t0001g0160 a0001c0002t0001g0088	3	243	0.0123	15	c.127 others(32): Show c.127+2198_127+2199insAAAAATATATATATA		BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13						chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552107	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18956.hp1 NA18963.hp2 others(4): Show HG03130.hp1 NA18956.hp1 NA18963.hp2 NA18977.hp1 NA18999.hp2 NA19003.hp2 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0004 a0001c0002t0001g0030 a0001c0002t0001g0086 others(1): Show a0001c0002t0001g0004 a0001c0002t0001g0030 a0001c0002t0001g0086 a0001c0003t0001g0207	7	345	0.0203	15	c.127 others(32): Show c.127+2197_127+2198insTATATATATATATAT		BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13						chr7	TogoVar
BRCA1_chr17_43039295_43130364	43059469	C C	CACAACAA others(8): Show CACAACAACAACAACA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03195.hp1 HG04199.hp2 HG02572.hp2 HG03195.hp1 HG04199.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0003 a0003c0003t0002 a0003c0003t0003	a0003c0003t0002g0115 a0003c0003t0003g0123 a0003c0003t0003g0129 a0003c0003t0002g0115 a0003c0003t0003g0123 a0003c0003t0003g0129	3	110	0.0273	15	c.519 others(34): Show c.5194-2349_5194-2335dupTGTTGTTGTTGTTGT		BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	18/22						chr17	TogoVar
BRCC3_chrX_155066508_155128077	155075292	C C	CCCTGAAA others(8): Show CCCTGAAACTCTTGTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03453.hp2 HG02109.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0058 a0001c0001t0003g0059	2	252	0.0079	15	c.195 others(32): Show c.195+1865_195+1866insAAACTCTTGTACCTG		BRCC3	ENSG00000185515.16	transcript	ENST00000330045.12	protein_coding	3/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
BRD1_chr22_49768283_49832873	49827360	A A	AGCCGCCG others(8): Show AGCCGCCGCCGCCGCC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18943.hp1 NA18940.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0213 a0001c0002t0001g0214	2	193	0.0104	15	c.-15 others(30): Show c.-15+122_-15+136dupGGCGGCGGCGGCGGC		BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	1/12						chr22	TogoVar
BRD3OS_chr9_134020481_134036587	134025002	C C	CCTCCTCC others(8): Show CCTCCTCCCACCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0001 a0001c0001t0025g0001	1	332	0.0030	15	c.-13 others(26): Show c.-1321_-1320insCTCCTCCCACCTCCG		BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding					478		chr9	TogoVar
BRD3_chr9_134025305_134073026	134051878	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0216 a0001c0002t0020g0216	1	316	0.0032	15	c.352 others(30): Show c.352-170_352-169insCACACACACACACAC		BRD3	ENSG00000169925.17	transcript	ENST00000303407.12	protein_coding	3/11						chr9	TogoVar
BRD4_chr19_15230519_15337539	15243145	G G	GGCGGCTG others(8): Show GGCGGCTGCTGCTGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02258.hp2 HG02258.hp2	a0010 a0010	a0010c0027 a0010c0027	a0010c0027t0005 a0010c0027t0005	a0010c0027t0005g0056 a0010c0027t0005g0056	1	206	0.0049	15	c.290 others(24): Show c.2909_2923dupTGCAGCAGCAGCCGC	p.Leu others(13): Show p.Leu970_Pro974dup	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	14/20	3207/7231	2923/4089	975/1362			chr19	TogoVar
BRDT_chr1_91944401_92019421	91945300	A A	ATATATAT others(8): Show ATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	316	0.0032	15	c.-44 others(26): Show c.-4420_-4419insTATATATATATATAT		BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding					4100		chr1	TogoVar

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