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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BMPR1B_chr4_94752955_95163448	95061160	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02976.hp1 HG03486.hp1 others(1): Show HG01884.hp1 HG02976.hp1 HG03486.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0053 a0001c0001t0013 a0001c0001t0053	a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0013g0202 others(1): Show a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0013g0202 a0001c0001t0053g0196	4	15	0.2667	-18	c.-17 others(37): Show c.-17-43215_-17-43198delACACACACACACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR2_chr2_202371327_202572749	202373158	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01106.hp1 others(15): Show HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG02109.hp1 HG02559.hp1 HG02723.hp1 HG02723.hp2 HG03098.hp1 HG03209.hp2 HG03540.hp2 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0022 a0001c0001t0023 a0001c0001t0036 a0001c0002t0002 a0001c0002t0018 a0001c0002t0051	a0001c0001t0001g0177 a0001c0001t0005g0015 a0001c0001t0005g0141 others(15): Show a0001c0001t0001g0177 a0001c0001t0005g0015 a0001c0001t0005g0141 a0001c0001t0005g0224 a0001c0001t0010g0037 a0001c0001t0010g0038 a0001c0001t0010g0039 a0001c0001t0010g0042 a0001c0001t0022g0043 a0001c0001t0023g0040 a0001c0001t0036g0036 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0072 a0001c0002t0018g0071 a0001c0002t0018g0111 a0001c0002t0051g0057	18	76	0.2368	-18	c.-43 others(29): Show c.-4316_-4299delTTTTTTTTTTTTTTTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding		3168		chr2	TogoVar
BMPR2_chr2_202371327_202572749	202380911	GCCTGGCC others(11): Show GCCTGGCCCTGGCCCTGGC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp2 HG01071.hp1 others(21): Show HG00642.hp1 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG01928.hp2 HG01978.hp1 HG01993.hp2 HG02055.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp2 HG02622.hp1 HG02698.hp1 HG03139.hp1 HG03831.hp2 NA18522.hp2 NA19082.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0003 a0001c0001t0014 a0001c0001t0015 others(5): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0015 a0001c0001t0041 a0001c0001t0048 a0001c0001t0050 a0001c0001t0052 a0003c0008t0003	a0001c0001t0003g0012 a0001c0001t0003g0019 a0001c0001t0003g0020 others(21): Show a0001c0001t0003g0012 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0014g0035 a0001c0001t0014g0142 a0001c0001t0014g0144 a0001c0001t0015g0014 a0001c0001t0015g0025 a0001c0001t0041g0143 a0001c0001t0048g0013 a0001c0001t0050g0018 a0001c0001t0052g0145 a0003c0008t0003g0030	24	138	0.1739	-18	c.76+ others(33): Show c.76+3385_76+3402delCCCTGGCCCTGGCCCTGG	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202393882	CGAGAGAG others(11): Show CGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01433.hp1 HG02109.hp2 others(7): Show HG00140.hp2 HG01433.hp1 HG02109.hp2 HG02145.hp2 HG02615.hp1 HG02809.hp2 HG02886.hp2 HG03041.hp2 HG03579.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0002t0002 a0001c0002t0012	a0001c0001t0001g0139 a0001c0001t0005g0153 a0001c0001t0005g0154 others(7): Show a0001c0001t0001g0139 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0157 a0001c0001t0005g0160 a0001c0001t0006g0113 a0001c0001t0011g0159 a0001c0001t0013g0149 a0001c0002t0002g0064 a0001c0002t0012g0065	10	20	0.5000	-18	c.76+ others(35): Show c.76+16367_76+16384delGAGAGAGAGAGAGAGAGA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202457557	TATATAGA others(11): Show TATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	188	0.0053	-18	c.77- others(33): Show c.77-7250_77-7233delTATAGAGAGAGAGAGAGA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202557464	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	38	0.0263	-18	c.286 others(35): Show c.2866+967_2866+984delCACACACACACACACACA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMS1_chr10_42777795_42839937	42779045	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02040.hp2 HG02074.hp1 others(8): Show HG00673.hp2 HG02040.hp2 HG02074.hp1 HG02165.hp1 HG02273.hp2 NA18946.hp1 NA18971.hp1 NA18984.hp1 NA18998.hp1 NA19068.hp2 NA19081.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0024 a0005c0007t0001 a0005c0007t0024	a0005c0007t0001g0002 a0005c0007t0001g0029 a0005c0007t0001g0191 others(4): Show a0005c0007t0001g0002 a0005c0007t0001g0029 a0005c0007t0001g0191 a0005c0007t0001g0192 a0005c0007t0001g0193 a0005c0007t0001g0194 a0005c0007t0024g0002	11	235	0.0468	-18	c.-38 others(29): Show c.-3818_-3801delAAAAAAAAAAAAAAAAAA	BMS1	ENSG00000165733.8	transcript	ENST00000374518.6	protein_coding		3749		chr10	TogoVar
BMT2_chr7_112814147_112944875	112902421	AAAAAAAA others(11): Show AAAAAAAACAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18951.hp2 NA18970.hp1 HG00733.hp2 NA18951.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0180 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0180	3	203	0.0148	-18	c.303 others(35): Show c.303-6700_303-6683delGTTTTTTTTTGTTTTTTT	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	2/4			chr7	TogoVar
BMX_chrX_15495807_15561519	15498559	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG01071.hp1 others(6): Show HG00733.hp2 HG01069.hp1 HG01071.hp1 HG02622.hp1 HG02976.hp2 HG03225.hp1 NA18989.hp1 NA19082.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0037 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0128 a0001c0003t0001g0004	9	214	0.0421	-18	c.-23 others(29): Show c.-2390_-2373delCTCTCTCTCTCTCTCTCC	BMX	ENSG00000102010.15	transcript	ENST00000348343.11	protein_coding		2247		chrX	TogoVar
BMX_chrX_15495807_15561519	15527247	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02723.hp1 NA19063.hp1 others(1): Show HG00323.hp1 HG02723.hp1 NA19063.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0089 a0001c0001t0001g0090 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0136	4	40	0.1000	-18	c.884 others(35): Show c.884+1172_884+1189delTATATATATATATATATA	BMX	ENSG00000102010.15	transcript	ENST00000348343.11	protein_coding	9/18		INFO_REALIGN_3_PRIME	chrX	TogoVar
BNC2_chr9_16404503_16875670	16412720	GGAGAGAG others(11): Show GGAGAGAGAGAGAGAGAGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG06807.hp1 others(1): Show HG02717.hp1 HG02723.hp2 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0089 a0001c0001t0009 a0001c0001t0089	a0001c0001t0009g0021 a0001c0001t0009g0062 a0001c0001t0009g0117 others(1): Show a0001c0001t0009g0021 a0001c0001t0009g0062 a0001c0001t0009g0117 a0001c0001t0089g0038	4	13	0.3077	-18	c.62 others(29): Show c.6251_*6268delTCTCTCTCTCTCTCTCTC	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	7/7	6251		chr9	TogoVar
BNC2_chr9_16404503_16875670	16497978	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp2 HG01109.hp1 others(18): Show HG01074.hp1 HG01099.hp2 HG01109.hp1 HG02145.hp1 HG02280.hp2 HG02572.hp1 HG02602.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02976.hp1 HG03098.hp2 HG03225.hp1 HG03471.hp1 HG03669.hp1 HG04199.hp2 HG06807.hp1 NA19030.hp2 NA19240.hp1 NA20300.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0016 a0001c0020 others(2): Show a0001c0001 a0001c0016 a0001c0020 a0003c0008 a0009c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0018 a0001c0001t0021 a0001c0001t0025 a0001c0001t0028 a0001c0001t0036 a0001c0001t0048 a0001c0001t0063 a0001c0001t0083 a0001c0001t0089 a0001c0001t0108 a0001c0016t0092 a0001c0020t0107 a0003c0008t0025 a0009c0014t0046	a0001c0001t0001g0060 a0001c0001t0003g0016 a0001c0001t0003g0063 others(18): Show a0001c0001t0001g0060 a0001c0001t0003g0016 a0001c0001t0003g0063 a0001c0001t0003g0082 a0001c0001t0009g0021 a0001c0001t0009g0062 a0001c0001t0009g0117 a0001c0001t0018g0173 a0001c0001t0021g0134 a0001c0001t0025g0024 a0001c0001t0028g0115 a0001c0001t0036g0151 a0001c0001t0048g0116 a0001c0001t0063g0077 a0001c0001t0083g0004 a0001c0001t0089g0038 a0001c0001t0108g0126 a0001c0016t0092g0085 a0001c0020t0107g0119 a0003c0008t0025g0066 a0009c0014t0046g0078	21	35	0.6000	-18	c.669 others(37): Show c.669+54534_669+54551delACACACACACACACACAC	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16506508	CTCCTCTT others(11): Show CTCCTCTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0167 a0001c0001t0035g0167	1	147	0.0068	-18	c.669 others(37): Show c.669+46004_669+46021delAAAAAAAAAAAAAGAGGA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16506513	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0116 a0001c0001t0048g0116	1	47	0.0213	-18	c.669 others(37): Show c.669+45999_669+46016delAAAAAAAAAAAAAAAAAA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16614958	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03486.hp2 NA18986.hp2 HG02809.hp1 HG03486.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0049 a0001c0007t0054 a0001c0001t0002 a0001c0001t0049 a0001c0007t0054	a0001c0001t0002g0141 a0001c0001t0049g0067 a0001c0007t0054g0075 a0001c0001t0002g0141 a0001c0001t0049g0067 a0001c0007t0054g0075	3	4	0.7500	-18	c.331 others(37): Show c.331-31891_331-31874delTTTTTTTTTTTTTTTTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNIP1_chr5_173139531_173169387	173148083	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG01255.hp2 others(6): Show HG00609.hp1 HG00609.hp2 HG01255.hp2 HG02015.hp1 HG02280.hp1 HG02970.hp1 NA18942.hp1 NA19062.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0074 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0082	9	215	0.0419	-18	c.177 others(35): Show c.177+1162_177+1179delATATATATATATATATAT	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
BNIP1_chr5_173139531_173169387	173166560	GATATATA others(11): Show GATATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 NA19062.hp2 HG03453.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0070 a0001c0001t0001g0002 a0001c0001t0001g0070	2	57	0.0351	-18	c.26 others(29): Show c.2640_*2657delATATATATATATATATAT	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding		2174		chr5	TogoVar
BNIP5_chr6_36310761_36341888	36324575	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01261.hp1 HG01884.hp1 others(24): Show HG00423.hp2 HG01261.hp1 HG01884.hp1 HG02015.hp1 HG02083.hp1 HG02155.hp1 HG02293.hp1 HG02293.hp2 HG02630.hp1 HG02698.hp1 HG03195.hp2 HG03710.hp1 HG04184.hp1 NA18942.hp1 NA18945.hp1 NA18948.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18975.hp2 NA19003.hp2 NA19057.hp1 NA19057.hp2 NA19068.hp2 NA19087.hp2 NA19088.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0017 a0002c0002 others(1): Show a0001c0001 a0001c0017 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0017t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0017t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0002	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0018 others(19): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0224 a0001c0001t0001g0262 a0001c0001t0002g0003 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0081 a0001c0017t0001g0213 a0002c0002t0001g0103 a0002c0002t0001g0236 a0002c0002t0002g0066 a0003c0003t0002g0002 a0003c0003t0002g0079	27	68	0.3971	-18	c.116 others(35): Show c.1169-403_1169-386delTATATATATATATATATA	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11			chr6	TogoVar
BOC_chr3_113206557_113292459	113210228	AACACACA others(11): Show AACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01993.hp1 HG02145.hp1 others(12): Show HG01106.hp1 HG01993.hp1 HG02145.hp1 HG02258.hp1 HG02723.hp2 HG02735.hp2 HG02976.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG06807.hp2 NA18954.hp1 NA18960.hp2 NA19043.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0015	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(7): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0005t0031 a0001c0006t0009 a0001c0010t0002 a0001c0012t0001 a0001c0013t0027 a0001c0014t0001 a0001c0015t0001	a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0001t0001g0107 others(12): Show a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0002t0002g0123 a0001c0002t0003g0364 a0001c0005t0031g0352 a0001c0006t0009g0110 a0001c0010t0002g0029 a0001c0012t0001g0201 a0001c0013t0027g0202 a0001c0013t0027g0203 a0001c0014t0001g0108 a0001c0014t0001g0122 a0001c0015t0001g0106	15	123	0.1220	-18	c.-19 others(29): Show c.-1957_-1940delACACACACACACACACAC	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding		1328		chr3	TogoVar
BOLL_chr2_197721890_197790319	197784391	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01515.hp1 HG01517.hp1 others(2): Show HG00558.hp1 HG01515.hp1 HG01517.hp1 HG02027.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0220 a0001c0001t0001g0221 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222	5	26	0.1923	-18	c.-16 others(33): Show c.-16+647_-16+664delATATATATATATATATAT	BOLL	ENSG00000152430.19	transcript	ENST00000392296.9	protein_coding	1/10			chr2	TogoVar
BORA_chr13_72722923_72761196	72724725	TATATATA others(11): Show TATATATATATATATACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	385	0.0026	-18	c.-32 others(29): Show c.-3297_-3280delATATATATATATATACAC	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding		3197		chr13	TogoVar
BORA_chr13_72722923_72761196	72742765	TATACACA others(11): Show TATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG02809.hp2 others(4): Show HG02622.hp1 HG02647.hp2 HG02809.hp2 HG03130.hp1 NA18945.hp2 NA18946.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0117 a0001c0001t0001g0163 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0117 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0002t0001g0010 a0001c0002t0001g0113	7	333	0.0210	-18	c.389 others(33): Show c.389-770_389-753delTACACACACACACACACA	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
BORA_chr13_72722923_72761196	72742767	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp2 HG01884.hp1 others(34): Show HG00673.hp2 HG00735.hp2 HG01884.hp1 HG01891.hp1 HG02145.hp1 HG02257.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03831.hp2 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18950.hp2 NA18966.hp1 NA19009.hp2 NA19043.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0040 others(23): Show a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0095 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0002g0005 a0001c0001t0002g0099 a0001c0001t0004g0124	37	110	0.3364	-18	c.389 others(33): Show c.389-742_389-725delCACACACACACACACACA	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
BORA_chr13_72722923_72761196	72748728	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02976.hp2 HG03225.hp2 HG02965.hp1 HG02976.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0009g0108 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0009g0108	3	144	0.0208	-18	c.148 others(37): Show c.1482+1631_1482+1648delCTCTCTCTCTCTCTCTCT	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
BORA_chr13_72722923_72761196	72748742	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	386	0.0026	-18	c.148 others(37): Show c.1482+1633_1482+1650delCTCTCTCTCTCTCTCTTT	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
BORCS7_chr10_102849259_102869961	102858189	ATAGAGAG others(11): Show ATAGAGAGAGAGAGCGAGC	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	452	0.0022	-18	c.142 others(35): Show c.142-2142_142-2125delTAGAGAGAGAGAGCGAGC	BORCS7	ENSG00000166275.16	transcript	ENST00000339834.10	protein_coding	1/4			chr10	TogoVar
BORCS7_chr10_102849259_102869961	102858190	TAGAGAGA others(11): Show TAGAGAGAGAGAGCGAGCG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01070.hp1 HG02040.hp1 others(14): Show HG00408.hp2 HG01070.hp1 HG02040.hp1 HG02523.hp1 HG02683.hp2 HG02735.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18977.hp1 NA19007.hp2 NA19077.hp2 NA19084.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0033 others(3): Show a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0033 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0108	17	370	0.0459	-18	c.142 others(35): Show c.142-2129_142-2112delCGAGCGAGAGAGAGAGAG	BORCS7	ENSG00000166275.16	transcript	ENST00000339834.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
BORCS8_chr19_19171906_19197152	19177678	AAGGAAGG others(11): Show AAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	426	0.0023	-18	c.43 others(33): Show c.43-236_*43-219delCTTCCTTCCTTCCTTCCT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BORCS8_chr19_19171906_19197152	19177681	GAAGGAAG others(11): Show GAAGGAAGGAAGGAAGAGA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0078 a0001c0001t0006g0078	1	342	0.0029	-18	c.43 others(33): Show c.43-239_*43-222delTCTCTTCCTTCCTTCCTT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BORCS8_chr19_19171906_19197152	19177688	GGAAGGAA others(11): Show GGAAGGAAGAGAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	421	0.0024	-18	c.43 others(33): Show c.43-246_*43-229delTTTCTTTTCTCTTCCTTC	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPGM_chr7_134641853_134684816	134659372	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02630.hp1 HG02895.hp1 others(7): Show HG01255.hp2 HG02630.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03209.hp1 HG03540.hp1 NA18906.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0156 a0001c0001t0001g0157 others(6): Show a0001c0001t0001g0043 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178	10	132	0.0758	-18	c.-61 others(35): Show c.-61-2052_-61-2035delGTGTGTGTGTGTGTGTGT	BPGM	ENSG00000172331.12	transcript	ENST00000344924.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
BPGM_chr7_134641853_134684816	134682496	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 NA18943.hp1 others(1): Show HG02895.hp1 HG02897.hp2 NA18943.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0061 a0001c0001t0001g0176 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0061 a0001c0001t0001g0176 a0001c0001t0001g0177	4	21	0.1905	-18	c.34 others(29): Show c.3466_*3483delGTGTGTGTGTGTGTGTGT	BPGM	ENSG00000172331.12	transcript	ENST00000344924.8	protein_coding		2681		chr7	TogoVar
BPHL_chr6_3113711_3158578	3145294	CGAGTGCT others(11): Show CGAGTGCTGGTTCGGGGTG	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03927.hp1 HG04184.hp1 HG03239.hp2 HG03927.hp1 HG04184.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0212 a0001c0008t0001g0213 a0001c0008t0001g0215 a0001c0008t0001g0212 a0001c0008t0001g0213 a0001c0008t0001g0215	3	282	0.0106	-18	c.788 others(35): Show c.788+4832_788+4849delTCGGGGTGGAGTGCTGGT	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BPHL_chr6_3113711_3158578	3146146	TTGGAGTG others(11): Show TTGGAGTGCTGGTTCGGGG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01167.hp2 HG01169.hp2 others(50): Show HG00280.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp2 NA18979.hp2 NA19011.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0008 a0003c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0004t0006 a0001c0005t0002 a0001c0005t0005 a0001c0008t0001 a0003c0006t0002	a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0040 others(39): Show a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0040 a0001c0001t0002g0046 a0001c0001t0002g0086 a0001c0001t0002g0137 a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0004g0017 a0001c0001t0004g0042 a0001c0001t0004g0047 a0001c0001t0004g0189 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0005g0050 a0001c0001t0005g0246 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0250 a0001c0001t0012g0059 a0001c0004t0006g0018 a0001c0004t0006g0044 a0001c0004t0006g0230 a0001c0004t0006g0232 a0001c0005t0002g0048 a0001c0005t0005g0021 a0001c0005t0005g0049 a0001c0005t0005g0051 a0001c0005t0005g0214 a0001c0008t0001g0212 a0001c0008t0001g0213 a0001c0008t0001g0215 a0003c0006t0002g0041 a0003c0006t0002g0217 a0003c0006t0002g0218 a0003c0006t0002g0220	53	316	0.1677	-18	c.788 others(35): Show c.788+5686_788+5703delTCGGGGTGGAGTGCTGGT	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BPHL_chr6_3113711_3158578	3146196	CGGGGTGG others(11): Show CGGGGTGGAGTGCTGGTGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	348	0.0029	-18	c.788 others(35): Show c.788+5691_788+5708delGTGGAGTGCTGGTGTGGG	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BPHL_chr6_3113711_3158578	3146831	TGGAGTGC others(11): Show TGGAGTGCTGGTTTGGGTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01884.hp1 HG01884.hp2 others(28): Show HG00280.hp1 HG01884.hp1 HG01884.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03927.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18944.hp2 NA18979.hp2 NA19011.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0006 a0001c0001 a0001c0005 a0003c0006	a0001c0001t0002 a0001c0001t0004 a0001c0005t0002 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0005t0002 a0003c0006t0002	a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0040 others(21): Show a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0040 a0001c0001t0002g0046 a0001c0001t0002g0086 a0001c0001t0002g0137 a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0004g0017 a0001c0001t0004g0042 a0001c0001t0004g0047 a0001c0001t0004g0189 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0005t0002g0048 a0003c0006t0002g0041 a0003c0006t0002g0217 a0003c0006t0002g0218 a0003c0006t0002g0220	31	348	0.0891	-18	c.789 others(35): Show c.789-5622_789-5605delTCGGAGTGCTGGTTTGGG	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BPIFA1_chr20_33230996_33248306	33237898	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	15	0.0667	-18	c.160 others(31): Show c.160+63_160+80delGTGTGTGTGTGTGTGTGT	BPIFA1	ENSG00000198183.13	transcript	ENST00000354297.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33052542	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	192	0.0052	-18	c.-14 others(29): Show c.-1437_-1420delTGTGTGTATATATATATA	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding		1360		chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33052546	GTGTATAT others(11): Show GTGTATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	137	0.0073	-18	c.-14 others(29): Show c.-1433_-1416delTGTATATATATATATATA	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding		1356		chr20	TogoVar
BPIFB6_chr20_33026648_33049047	33043236	TCCTTAAT others(11): Show TCCTTAATCAACTGCACAG	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	382	0.0026	-18	c.125 others(33): Show c.1253-53_1253-36delCTTAATCAACTGCACAGC	BPIFB6	ENSG00000167104.11	transcript	ENST00000349552.1	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFC_chr22_32408845_32469446	32450093	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG02132.hp1 others(9): Show HG00323.hp1 HG00735.hp1 HG02132.hp1 HG02486.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG03130.hp2 HG03927.hp1 NA19043.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0004c0004t0002	a0001c0001t0001g0021 a0001c0001t0001g0165 a0001c0001t0001g0412 others(9): Show a0001c0001t0001g0021 a0001c0001t0001g0165 a0001c0001t0001g0412 a0001c0001t0001g0414 a0001c0001t0002g0337 a0002c0002t0001g0102 a0002c0002t0001g0335 a0002c0002t0002g0101 a0003c0003t0001g0191 a0003c0003t0001g0296 a0004c0004t0002g0187 a0004c0004t0002g0188	12	61	0.1967	-18	c.246 others(35): Show c.246-2771_246-2754delGTGTGTGTGTGTGTGTGT	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	4/16			chr22	TogoVar
BPNT1_chr1_220052482_220094788	220090911	CATATATA others(11): Show CATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02615.hp2 HG01884.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0288 a0001c0001t0002g0265 a0001c0001t0002g0288	2	204	0.0098	-18	c.-12 others(29): Show c.-1252_-1235delATATATATATATATATAT	BPNT1	ENSG00000162813.18	transcript	ENST00000322067.12	protein_coding		1124		chr1	TogoVar
BPTF_chr17_67820503_67989378	67839156	ATTGCATT others(11): Show ATTGCATTGTGTACCACCT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	270	0.0037	-18	c.613 others(37): Show c.613+12820_613+12837delTTGCATTGTGTACCACCT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	1/27			chr17	TogoVar
BPTF_chr17_67820503_67989378	67919173	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01891.hp1 HG02717.hp1 others(8): Show HG00597.hp1 HG01891.hp1 HG02717.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02976.hp2 HG03195.hp1 HG03209.hp2 NA18522.hp1 NA19077.hp2	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0012	a0001c0005 a0002c0002 a0009c0023 others(1): Show a0001c0005 a0002c0002 a0009c0023 a0012c0012	a0001c0005t0005 a0002c0002t0002 a0009c0023t0005 others(1): Show a0001c0005t0005 a0002c0002t0002 a0009c0023t0005 a0012c0012t0002	a0001c0005t0005g0100 a0001c0005t0005g0101 a0001c0005t0005g0264 others(8): Show a0001c0005t0005g0100 a0001c0005t0005g0101 a0001c0005t0005g0264 a0001c0005t0005g0265 a0001c0005t0005g0266 a0001c0005t0005g0267 a0001c0005t0005g0268 a0001c0005t0005g0269 a0002c0002t0002g0237 a0009c0023t0005g0263 a0012c0012t0002g0238	11	96	0.1146	-18	c.542 others(35): Show c.5428+365_5428+382delTAATAATAATAATAATAA	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67953961	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18906.hp1 NA19043.hp2 others(1): Show HG02965.hp1 NA18906.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0085 a0001c0003t0003g0086 a0001c0003t0003g0093 others(1): Show a0001c0003t0003g0085 a0001c0003t0003g0086 a0001c0003t0003g0093 a0001c0003t0003g0094	4	13	0.3077	-18	c.792 others(37): Show c.7927-5556_7927-5539delTTTTTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67981984	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG04204.hp2 NA18970.hp2 others(1): Show HG00438.hp1 HG04204.hp2 NA18970.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0126 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0126 a0001c0015t0001g0162	4	5	0.8000	-18	c.872 others(35): Show c.8727-245_8727-228delATATATATATATATATAT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRAF_chr7_140714337_140929929	140732170	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 NA20300.hp1 HG01884.hp1 HG02258.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0111 a0001c0001t0001g0140 a0001c0002t0001g0056 a0001c0001t0001g0111 a0001c0001t0001g0140 a0001c0002t0001g0056	3	27	0.1111	-18	c.240 others(37): Show c.2401+2429_2401+2446delTTTTTTTTTTTTTTTTTT	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	19/19			chr7	TogoVar
BRAF_chr7_140714337_140929929	140814747	AATATATA others(11): Show AATATATAACATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	162	0.0062	-18	c.505 others(35): Show c.505-5770_505-5753delAATATATATGTTATATAT	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	3/19			chr7	TogoVar
BRAF_chr7_140714337_140929929	140884429	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	48	0.0208	-18	c.139 others(37): Show c.139-34235_139-34218delCACACACACACACACACA	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/19			chr7	TogoVar
BRAF_chr7_140725665_140929929	140732170	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02258.hp2 NA20300.hp1 HG01884.hp1 HG02258.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0024 a0001c0001t0025 a0001c0002t0047 a0001c0001t0024 a0001c0001t0025 a0001c0002t0047	a0001c0001t0024g0145 a0001c0001t0025g0115 a0001c0002t0047g0058 a0001c0001t0024g0145 a0001c0001t0025g0115 a0001c0002t0047g0058	3	27	0.1111	-18	c.24 others(29): Show c.2409_*2426delTTTTTTTTTTTTTTTTTT	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	18/18	2409		chr7	TogoVar

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