Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BPI_chr20_38299156_38342505	38339638	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG03453.hp2 HG00642.hp2 HG03453.hp2	a0012 a0027 a0012 a0027	a0012c0012 a0027c0024 a0012c0012 a0027c0024	a0012c0012t0001 a0027c0024t0001 a0012c0012t0001 a0027c0024t0001	a0012c0012t0001g0108 a0027c0024t0001g0205 a0012c0012t0001g0108 a0027c0024t0001g0205	2	48	0.0417	14	c.24 others(25): Show c.2454_*2455insAAAAAAAAAAAAAA	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding		2134		chr20	TogoVar
BPNT1_chr1_220052482_220094788	220090949	T T	TATATATA others(7): Show TATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 NA19080.hp1 HG00408.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0252 a0001c0001t0004g0257 a0001c0001t0004g0252 a0001c0001t0004g0257	2	289	0.0069	14	c.-12 others(25): Show c.-1273_-1272insGTGTATATATATAT	BPNT1	ENSG00000162813.18	transcript	ENST00000322067.12	protein_coding		1162		chr1	TogoVar
BPNT2_chr8_56952931_56998867	56980819	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19005.hp1 NA18982.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0251 a0001c0001t0003g0238 a0001c0001t0003g0251	2	82	0.0244	14	c.388 others(29): Show c.388-636_388-623dupGTGTGTGTGTGTGT	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding	1/4			chr8	TogoVar
BPNT2_chr8_56952931_56998867	56980819	T T	TATACACA others(7): Show TATACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01074.hp2 HG02145.hp2 others(11): Show HG00673.hp1 HG01074.hp2 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG03942.hp1 NA18950.hp1 NA18980.hp2 NA18985.hp2 NA18997.hp1 NA19006.hp1 NA19055.hp2 NA19056.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0034 others(1): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0034 a0001c0001t0035	a0001c0001t0002g0014 a0001c0001t0002g0215 a0001c0001t0002g0216 others(9): Show a0001c0001t0002g0014 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0016g0189 a0001c0001t0016g0197 a0001c0001t0034g0194 a0001c0001t0035g0196	14	94	0.1489	14	c.388 others(29): Show c.388-623_388-622insGTGTGTGTGTGTAT	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding	1/4			chr8	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTCCT others(7): Show CTTTTCCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01891.hp1 HG02109.hp2 others(20): Show HG01099.hp2 HG01891.hp1 HG02109.hp2 HG02257.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp1 NA18522.hp1 NA18906.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0003 a0001c0005 a0001c0009 others(2): Show a0001c0003 a0001c0005 a0001c0009 a0003c0004 a0009c0023	a0001c0003t0002 a0001c0003t0003 a0001c0005t0005 others(3): Show a0001c0003t0002 a0001c0003t0003 a0001c0005t0005 a0001c0009t0003 a0003c0004t0004 a0009c0023t0005	a0001c0003t0002g0088 a0001c0003t0002g0089 a0001c0003t0003g0085 others(20): Show a0001c0003t0002g0088 a0001c0003t0002g0089 a0001c0003t0003g0085 a0001c0003t0003g0086 a0001c0003t0003g0087 a0001c0003t0003g0090 a0001c0003t0003g0091 a0001c0003t0003g0092 a0001c0003t0003g0093 a0001c0003t0003g0094 a0001c0003t0003g0095 a0001c0003t0003g0096 a0001c0003t0003g0097 a0001c0005t0005g0100 a0001c0005t0005g0101 a0001c0005t0005g0264 a0001c0005t0005g0265 a0001c0005t0005g0266 a0001c0005t0005g0269 a0001c0009t0003g0083 a0001c0009t0003g0084 a0003c0004t0004g0174 a0009c0023t0005g0263	23	121	0.1901	14	c.530 others(33): Show c.5304-1579_5304-1578insCCTTTCTTTTTTTT	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(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02083.hp2 NA18941.hp2 others(6): Show HG00438.hp2 HG02083.hp2 NA18941.hp2 NA18942.hp1 NA18970.hp1 NA18983.hp1 NA19082.hp1 NA19087.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0182 a0002c0002t0002g0193 others(6): Show a0002c0002t0002g0015 a0002c0002t0002g0182 a0002c0002t0002g0193 a0002c0002t0002g0223 a0002c0002t0002g0226 a0002c0002t0002g0248 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0255	9	107	0.0841	14	c.530 others(33): Show c.5304-1577_5304-1564dupTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67981866	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02083.hp1 HG03710.hp1 others(10): Show HG00544.hp2 HG02083.hp1 HG03710.hp1 NA18962.hp1 NA18963.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18980.hp2 NA18985.hp1 NA19065.hp1 NA19067.hp2 NA19081.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0002 a0013c0022 a0001c0001 a0002c0002 a0013c0022	a0001c0001t0001 a0002c0002t0002 a0013c0022t0002 a0001c0001t0001 a0002c0002t0002 a0013c0022t0002	a0001c0001t0001g0140 a0002c0002t0002g0016 a0002c0002t0002g0200 others(10): Show a0001c0001t0001g0140 a0002c0002t0002g0016 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0203 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0222 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0254 a0013c0022t0002g0188	13	34	0.3824	14	c.872 others(31): Show c.8727-361_8727-348dupACACACACACACAC	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67984627	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0029 a0003c0029	a0003c0029t0010 a0003c0029t0010	a0003c0029t0010g0099 a0003c0029t0010g0099	1	271	0.0037	14	c.23 others(25): Show c.2339_*2340insTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding		250		chr17	TogoVar
BPTF_chr17_67820503_67989378	67984630	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01975.hp2 HG02055.hp1 others(17): Show HG01106.hp1 HG01975.hp2 HG02055.hp1 HG02145.hp2 HG02572.hp2 HG02647.hp1 HG03516.hp1 HG03516.hp2 HG03669.hp2 HG03927.hp1 NA18962.hp1 NA18964.hp2 NA18972.hp1 NA18980.hp2 NA18989.hp2 NA19000.hp1 NA19012.hp1 NA19065.hp1 NA19067.hp2 NA19081.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0006	a0002c0002 a0002c0006 a0003c0004 others(3): Show a0002c0002 a0002c0006 a0003c0004 a0004c0007 a0004c0026 a0006c0010	a0002c0002t0002 a0002c0006t0002 a0003c0004t0004 others(3): Show a0002c0002t0002 a0002c0006t0002 a0003c0004t0004 a0004c0007t0002 a0004c0026t0002 a0006c0010t0002	a0002c0002t0002g0016 a0002c0002t0002g0200 a0002c0002t0002g0203 others(17): Show a0002c0002t0002g0016 a0002c0002t0002g0200 a0002c0002t0002g0203 a0002c0002t0002g0205 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0216 a0002c0002t0002g0232 a0002c0002t0002g0243 a0002c0002t0002g0260 a0002c0002t0002g0262 a0002c0002t0002g0271 a0002c0002t0002g0273 a0002c0006t0002g0009 a0003c0004t0004g0001 a0003c0004t0004g0174 a0004c0007t0002g0077 a0004c0026t0002g0074 a0006c0010t0002g0004 a0006c0010t0002g0108	20	34	0.5882	14	c.23 others(25): Show c.2342_*2343insTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding		253		chr17	TogoVar
BRAF_chr7_140714337_140929929	140812160	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01175.hp1 HG01891.hp2 others(12): Show HG00609.hp1 HG01175.hp1 HG01891.hp2 HG02523.hp1 HG02735.hp2 HG02895.hp1 HG02897.hp2 HG03831.hp1 HG03834.hp1 HG04199.hp2 NA18612.hp1 NA18963.hp2 NA19062.hp2 NA19077.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0012 a0001c0001t0032 others(1): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0032 a0001c0003t0002	a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0094 others(12): Show a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0109 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0177 a0001c0001t0012g0107 a0001c0001t0032g0180 a0001c0003t0002g0096 a0001c0003t0002g0097	15	133	0.1128	14	c.505 others(31): Show c.505-3179_505-3166dupCACACACACACACA	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	3/19			chr7	TogoVar
BRAF_chr7_140714337_140929929	140884429	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02647.hp2 HG02273.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0001 a0001c0001t0010 a0001c0002t0001	a0001c0001t0010g0127 a0001c0002t0001g0039 a0001c0001t0010g0127 a0001c0002t0001g0039	2	49	0.0408	14	c.139 others(33): Show c.139-34231_139-34218dupCACACACACACACA	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/19			chr7	TogoVar
BRAF_chr7_140714337_140929929	140906087	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0096 a0001c0003t0002g0096	1	67	0.0149	14	c.138 others(33): Show c.138+18465_138+18478dupTTTTTTTTTTTTTT	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/19			chr7	TogoVar
BRAF_chr7_140714337_140929929	140914964	C C	CGGGGGGG others(7): Show CGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0160 a0001c0001t0025g0160	1	34	0.0294	14	c.138 others(31): Show c.138+9588_138+9601dupCCCCCCCCCCCCCC	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/19			chr7	TogoVar
BRAF_chr7_140725665_140929929	140812160	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01175.hp1 HG01891.hp1 others(13): Show HG00609.hp2 HG01175.hp1 HG01891.hp1 HG02300.hp2 HG02523.hp1 HG02735.hp1 HG02895.hp2 HG02897.hp1 HG03831.hp1 HG03834.hp1 HG04199.hp2 NA18612.hp2 NA18963.hp1 NA19062.hp1 NA19077.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0058 a0001c0001t0061 others(1): Show a0001c0001t0002 a0001c0001t0058 a0001c0001t0061 a0001c0003t0002	a0001c0001t0002g0091 a0001c0001t0002g0096 a0001c0001t0002g0098 others(13): Show a0001c0001t0002g0091 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0182 a0001c0001t0058g0185 a0001c0001t0061g0196 a0001c0003t0002g0100 a0001c0003t0002g0101	16	138	0.1159	14	c.505 others(31): Show c.505-3179_505-3166dupCACACACACACACA	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	3/17			chr7	TogoVar
BRAF_chr7_140725665_140929929	140884429	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02647.hp1 HG02273.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0006 a0001c0001t0003 a0001c0002t0006	a0001c0001t0003g0131 a0001c0002t0006g0040 a0001c0001t0003g0131 a0001c0002t0006g0040	2	50	0.0400	14	c.139 others(33): Show c.139-34231_139-34218dupCACACACACACACA	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	1/17			chr7	TogoVar
BRAF_chr7_140725665_140929929	140906087	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0100 a0001c0003t0002g0100	1	69	0.0145	14	c.138 others(33): Show c.138+18465_138+18478dupTTTTTTTTTTTTTT	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	1/17			chr7	TogoVar
BRAF_chr7_140725665_140929929	140914964	C C	CGGGGGGG others(7): Show CGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0165 a0001c0001t0009g0165	1	35	0.0286	14	c.138 others(31): Show c.138+9588_138+9601dupCCCCCCCCCCCCCC	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	1/17			chr7	TogoVar
BRAP_chr12_111637146_111690956	111667698	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp2 HG01106.hp2 others(5): Show HG00140.hp2 HG00738.hp2 HG01106.hp2 HG02109.hp1 HG02723.hp1 HG02809.hp2 HG03041.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0045 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0045 a0001c0001t0001g0156 a0001c0001t0001g0193 a0001c0001t0001g0212	8	74	0.1081	14	c.748 others(31): Show c.748-1925_748-1912dupTTTTTTTTTTTTTT	BRAP	ENSG00000089234.16	transcript	ENST00000419234.9	protein_coding	5/11			chr12	TogoVar
BRAT1_chr7_2532810_2560524	2545363	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0004 a0001c0021t0004	a0001c0021t0004g0286 a0001c0021t0004g0286	1	183	0.0055	14	c.283 others(29): Show c.283-321_283-308dupTTTTTTTTTTTTTT	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	3/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552081	A A	AATACATA others(7): Show AATACATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0229 a0004c0013t0001g0229	1	333	0.0030	14	c.127 others(31): Show c.127+2223_127+2224insATATATATATGTAT	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552081	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19085.hp1 NA19062.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0134 a0001c0003t0001g0211 a0001c0001t0001g0134 a0001c0003t0001g0211	2	334	0.0060	14	c.127 others(31): Show c.127+2210_127+2223dupATATATATATATAT	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01981.hp2 NA19011.hp2 HG00558.hp2 HG01981.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0017 a0001c0002t0001g0004 a0001c0001t0001g0017 a0001c0002t0001g0004	3	243	0.0123	14	c.127 others(31): Show c.127+2198_127+2199insAATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(7): Show ATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03139.hp1 HG01243.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0110 a0001c0002t0001g0029 a0001c0002t0001g0110	2	242	0.0083	14	c.127 others(31): Show c.127+2198_127+2199insAAAATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(7): Show ATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	241	0.0041	14	c.127 others(31): Show c.127+2198_127+2199insAAAAAATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRCA1_chr17_43039295_43130364	43086109	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG02896.hp1 HG02647.hp1 HG02895.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233	3	78	0.0385	14	c.418 others(33): Show c.4186-3548_4186-3535dupGTGTGTGTGTGTGT	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	11/22			chr17	TogoVar
BRD1_chr22_49768283_49832873	49787299	A A	ACCCCCCC others(7): Show ACCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	140	0.0071	14	c.285 others(29): Show c.2857+90_2857+91insGGGGGGGGGGGGGG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	8/12			chr22	TogoVar
BRD1_chr22_49768283_49832873	49832717	A A	AACACACA others(7): Show AACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0218 a0001c0002t0001g0218	1	51	0.0196	14	c.-52 others(25): Show c.-5236_-5235insGTGTGTGTGTGTGT	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding		4845		chr22	TogoVar
BRD3OS_chr9_134020481_134036587	134025469	C C	CGGCCCCG others(7): Show CGGCCCCGCCCTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG03453.hp2 HG02647.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0084 a0001c0001t0075 a0001c0001t0084	a0001c0001t0075g0008 a0001c0001t0084g0001 a0001c0001t0075g0008 a0001c0001t0084g0001	2	224	0.0089	14	c.-85 others(23): Show c.-854_-853insGGCCCCGCCCTGGG	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		11		chr9	TogoVar
BRD3_chr9_134025305_134073026	134025469	C C	CGGCCCCG others(7): Show CGGCCCCGCCCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG03453.hp2 HG02647.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0053 a0001c0002t0047 a0001c0002t0053	a0001c0002t0047g0067 a0001c0002t0053g0077 a0001c0002t0047g0067 a0001c0002t0053g0077	2	229	0.0087	14	c.81 others(25): Show c.8120_*8121insCCCAGGGCGGGGCC	BRD3	ENSG00000169925.17	transcript	ENST00000303407.12	protein_coding		4835		chr9	TogoVar
BRD3_chr9_134025305_134073026	134026218	G G	GACCAAGC others(7): Show GACCAAGCAGCGCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0020	1	332	0.0030	14	c.73 others(25): Show c.7371_*7372insGTGCGCTGCTTGGT	BRD3	ENSG00000169925.17	transcript	ENST00000303407.12	protein_coding		4086		chr9	TogoVar
BRD3_chr9_134025305_134073026	134060587	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0092 a0001c0002t0044g0092	1	190	0.0053	14	c.-11 others(33): Show c.-113-7011_-113-6998dupGTGTGTGTGTGTGT	BRD3	ENSG00000169925.17	transcript	ENST00000303407.12	protein_coding	1/11			chr9	TogoVar
BRD4_chr19_15230519_15337539	15237245	T T	TGGGGGGG others(7): Show TGGGGGGGGGGGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0029 a0001c0004t0029	a0001c0004t0029g0003 a0001c0004t0029g0003	1	38	0.0263	14	c.11 others(25): Show c.1118_*1131dupCCCCCCCCCCCCCC	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	20/20	1131		chr19	TogoVar
BRD7_chr16_50310957_50373988	50313918	T T	TGGAGTGG others(7): Show TGGAGTGGCGGCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02080.hp2 HG02129.hp2 others(1): Show HG02074.hp2 HG02080.hp2 HG02129.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0051 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0051 a0001c0001t0001g0056	4	400	0.0100	14	c.52 others(25): Show c.5279_*5292dupGCAGCCGCCACTCC	BRD7	ENSG00000166164.17	transcript	ENST00000394688.8	protein_coding		2038		chr16	TogoVar
BRD7_chr16_50310957_50373988	50335540	G G	GTTTCTCC others(7): Show GTTTCTCCGTAAATT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03195.hp1 HG02109.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0035 a0001c0001t0034 a0001c0001t0035	a0001c0001t0034g0260 a0001c0001t0035g0261 a0001c0001t0034g0260 a0001c0001t0035g0261	2	400	0.0050	14	c.703 others(29): Show c.703-659_703-646dupAATTTACGGAGAAA	BRD7	ENSG00000166164.17	transcript	ENST00000394688.8	protein_coding	6/16			chr16	TogoVar
BRD7_chr16_50310957_50373988	50341928	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18954.hp1 NA18974.hp1 others(1): Show HG02723.hp1 NA18954.hp1 NA18974.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0117 a0001c0002t0002g0307 a0001c0002t0002g0308 others(1): Show a0001c0001t0005g0117 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0330	4	77	0.0519	14	c.592 others(31): Show c.592-1856_592-1843dupTGTGTGTGTGTGTG	BRD7	ENSG00000166164.17	transcript	ENST00000394688.8	protein_coding	5/16			chr16	TogoVar
BRD7_chr16_50310957_50373988	50363660	T T	TGTGTGTG others(7): Show TGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01993.hp2 HG01978.hp1 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	2	241	0.0083	14	c.258 others(31): Show c.258+4429_258+4430insGCGCGCACACACAC	BRD7	ENSG00000166164.17	transcript	ENST00000394688.8	protein_coding	2/16			chr16	TogoVar
BRD7_chr16_50310957_50373988	50363660	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0129 a0001c0001t0005g0129	1	240	0.0042	14	c.258 others(31): Show c.258+4429_258+4430insGCGCACACACACAC	BRD7	ENSG00000166164.17	transcript	ENST00000394688.8	protein_coding	2/16			chr16	TogoVar
BRD8_chr5_138134770_138183630	138165726	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02145.hp2 HG02965.hp2 HG01167.hp1 HG02145.hp2 HG02965.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0343 a0005c0007t0002g0344 a0005c0007t0002g0345 a0005c0007t0002g0343 a0005c0007t0002g0344 a0005c0007t0002g0345	3	344	0.0087	14	c.127 others(30): Show c.1278+88_1278+101dupTTTTTTTTTTTTTT	BRD8	ENSG00000112983.18	transcript	ENST00000254900.10	protein_coding	11/26			chr5	TogoVar
BRD9_chr5_858741_897801	869514	C C	CAAGTCTC others(7): Show CAAGTCTCTTCCTGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01884.hp1 HG02280.hp2 others(7): Show HG01261.hp2 HG01884.hp1 HG02280.hp2 HG02559.hp2 HG02723.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0012 a0002c0003 a0002c0012	a0002c0003t0008 a0002c0003t0010 a0002c0003t0012 others(1): Show a0002c0003t0008 a0002c0003t0010 a0002c0003t0012 a0002c0012t0008	a0002c0003t0008g0183 a0002c0003t0008g0184 a0002c0003t0008g0185 others(7): Show a0002c0003t0008g0183 a0002c0003t0008g0184 a0002c0003t0008g0185 a0002c0003t0008g0186 a0002c0003t0010g0049 a0002c0003t0010g0050 a0002c0003t0010g0051 a0002c0003t0012g0065 a0002c0003t0012g0066 a0002c0012t0008g0182	10	362	0.0276	14	c.152 others(31): Show c.1525+945_1525+958dupTCAGGAAGAGACTT	BRD9	ENSG00000028310.18	transcript	ENST00000467963.6	protein_coding	14/15			chr5	TogoVar
BRDT_chr1_91944401_92019421	91945279	A A	AATATATA others(7): Show AATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01071.hp2 others(10): Show HG00140.hp2 HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01975.hp2 HG03017.hp2 HG03490.hp1 HG03492.hp1 HG03710.hp2 NA18966.hp1 NA19004.hp1 NA19012.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0188 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0225 a0001c0001t0001g0233 a0001c0001t0001g0269 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0003c0003t0001g0007 a0003c0003t0001g0300	13	121	0.1074	14	c.-44 others(25): Show c.-4441_-4440insATATATATATATAT	BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding		4121		chr1	TogoVar
BRI3BP_chr12_124988645_125036231	124990211	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01361.hp2 HG02027.hp1 others(15): Show HG00609.hp2 HG01361.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02647.hp1 HG02738.hp2 HG02809.hp2 HG03540.hp2 NA18612.hp1 NA18965.hp1 NA18966.hp1 NA19009.hp1 NA19067.hp1 NA19077.hp1 NA19078.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 others(9): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0014 a0002c0002t0015 a0002c0002t0027 a0002c0002t0045 a0002c0002t0046 a0002c0002t0047 a0002c0002t0048 a0002c0002t0058	a0002c0002t0001g0355 a0002c0002t0001g0371 a0002c0002t0001g0377 others(15): Show a0002c0002t0001g0355 a0002c0002t0001g0371 a0002c0002t0001g0377 a0002c0002t0001g0380 a0002c0002t0001g0383 a0002c0002t0004g0347 a0002c0002t0004g0387 a0002c0002t0005g0354 a0002c0002t0005g0374 a0002c0002t0006g0386 a0002c0002t0014g0366 a0002c0002t0015g0364 a0002c0002t0027g0379 a0002c0002t0045g0373 a0002c0002t0046g0372 a0002c0002t0047g0376 a0002c0002t0048g0353 a0002c0002t0058g0360	18	354	0.0508	14	c.-35 others(25): Show c.-3580_-3579insTTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding		3433		chr12	TogoVar
BRI3BP_chr12_124988645_125036231	124997214	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0085	1	20	0.0500	14	c.213 others(31): Show c.213+3217_213+3230dupTTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125016825	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01123.hp2 HG01361.hp1 others(18): Show HG00621.hp2 HG01123.hp2 HG01361.hp1 HG02572.hp1 HG02615.hp2 HG02683.hp2 NA18940.hp2 NA18946.hp2 NA18950.hp2 NA18972.hp2 NA18984.hp2 NA18988.hp2 NA19002.hp2 NA19004.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19068.hp1 NA19088.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0003 a0001c0001t0090 a0002c0002t0001 others(12): Show a0001c0001t0003 a0001c0001t0090 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0021 a0002c0002t0057 a0002c0002t0062 a0002c0002t0079 a0002c0002t0086 a0003c0003t0001 a0003c0003t0006 a0003c0003t0011 a0004c0004t0003	a0001c0001t0003g0214 a0001c0001t0090g0107 a0002c0002t0001g0320 others(18): Show a0001c0001t0003g0214 a0001c0001t0090g0107 a0002c0002t0001g0320 a0002c0002t0003g0186 a0002c0002t0003g0188 a0002c0002t0003g0189 a0002c0002t0003g0249 a0002c0002t0003g0253 a0002c0002t0004g0237 a0002c0002t0004g0244 a0002c0002t0007g0333 a0002c0002t0021g0264 a0002c0002t0057g0073 a0002c0002t0062g0240 a0002c0002t0079g0334 a0002c0002t0086g0248 a0003c0003t0001g0164 a0003c0003t0006g0218 a0003c0003t0011g0076 a0003c0003t0011g0077 a0004c0004t0003g0336	21	48	0.4375	14	c.316 others(31): Show c.316+4203_316+4216dupTTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125019634	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG01123.hp2 others(14): Show HG00609.hp1 HG00621.hp2 HG01123.hp2 HG01496.hp1 HG01993.hp1 HG02129.hp2 HG02818.hp2 HG03491.hp2 HG04204.hp2 NA18942.hp1 NA18961.hp2 NA18966.hp2 NA18971.hp2 NA18973.hp2 NA19002.hp2 NA19011.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0019 a0001c0001t0024 others(6): Show a0001c0001t0004 a0001c0001t0019 a0001c0001t0024 a0001c0001t0040 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0021 a0002c0002t0062	a0001c0001t0004g0052 a0001c0001t0004g0060 a0001c0001t0004g0087 others(14): Show a0001c0001t0004g0052 a0001c0001t0004g0060 a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0286 a0001c0001t0019g0129 a0001c0001t0019g0130 a0001c0001t0024g0095 a0001c0001t0040g0106 a0002c0002t0003g0178 a0002c0002t0003g0197 a0002c0002t0003g0212 a0002c0002t0003g0235 a0002c0002t0004g0244 a0002c0002t0011g0246 a0002c0002t0021g0264 a0002c0002t0062g0240	17	341	0.0499	14	c.317 others(31): Show c.317-5357_317-5356insTTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2			chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125023300	C C	CTCCCTGA others(7): Show CTCCCTGACCTCATG	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0253 a0002c0002t0003g0253	1	198	0.0051	14	c.317 others(31): Show c.317-1690_317-1689insCCCTGACCTCATGT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3_chr7_98276686_98296545	98280247	G G	GATATATA others(7): Show GATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0076 a0001c0001t0004g0076	1	117	0.0085	14	c.-15 others(25): Show c.-1549_-1548insATATATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1438		chr7	TogoVar
BRINP1_chr9_119161629_119374435	119268243	A A	AATATAGA others(7): Show AATATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18948.hp1 HG03834.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0101 a0001c0001t0001g0053 a0001c0001t0001g0101	2	233	0.0086	14	c.219 others(33): Show c.219-19094_219-19093insCTATCTATCTATAT	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	2/7			chr9	TogoVar
BRINP1_chr9_119161629_119374435	119367217	G G	GTGTGATA others(7): Show GTGTGATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01952.hp1 others(1): Show HG00738.hp1 HG01074.hp1 HG01952.hp1 HG02293.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0014 a0002c0013 a0001c0002 a0001c0014 a0002c0013	a0001c0002t0003 a0001c0014t0003 a0002c0013t0003 a0001c0002t0003 a0001c0014t0003 a0002c0013t0003	a0001c0002t0003g0005 a0001c0002t0003g0007 a0001c0014t0003g0004 others(1): Show a0001c0002t0003g0005 a0001c0002t0003g0007 a0001c0014t0003g0004 a0002c0013t0003g0006	4	201	0.0199	14	c.-51 others(31): Show c.-51+1838_-51+1839insATATATATATCACA	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7			chr9	TogoVar
BRINP1_chr9_119161629_119374435	119367221	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01884.hp1 HG03927.hp2 HG01515.hp1 HG01884.hp1 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0003t0008 a0001c0002t0001 a0001c0003t0001 a0001c0003t0008	a0001c0002t0001g0163 a0001c0003t0001g0164 a0001c0003t0008g0212 a0001c0002t0001g0163 a0001c0003t0001g0164 a0001c0003t0008g0212	3	20	0.1500	14	c.-51 others(31): Show c.-51+1821_-51+1834dupATATATATATATAT	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7			chr9	TogoVar
BRINP2_chr1_177165958_177287422	177200293	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0153 a0002c0002t0002g0153	1	40	0.0250	14	c.-77 others(33): Show c.-77+28577_-77+28590dupAAAAAAAAAAAAAA	BRINP2	ENSG00000198797.7	transcript	ENST00000361539.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar

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