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
BCL9_chr1_147536501_147631216	147577834	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0169 a0001c0001t0013g0169	1	98	0.0102	20	c.-47 others(41): Show c.-477-26925_-477-26906dupGTGTGTGTGTGTGTGTGTGT	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCLAF1_chr6_136251627_136294846	136256669	C C	CAATAAAT others(13): Show CAATAAATAAATAAATAAATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19084.hp2 NA19090.hp2 NA19084.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0050 a0001c0001t0043 a0001c0001t0050	a0001c0001t0043g0097 a0001c0001t0050g0075 a0001c0001t0043g0097 a0001c0001t0050g0075	2	142	0.0141	20	c.44 others(31): Show c.4421_*4440dupTATTTATTTATTTATTTATT	BCLAF1	ENSG00000029363.17	transcript	ENST00000531224.6	protein_coding	13/13	4440		chr6	TogoVar
BCLAF1_chr6_136251627_136294846	136284128	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	274	0.0036	20	c.-11 others(39): Show c.-114-1442_-114-1441insTATATATATATATATATATA	BCLAF1	ENSG00000029363.17	transcript	ENST00000531224.6	protein_coding	1/12			chr6	TogoVar
BCLAF1_chr6_136251627_136294846	136284130	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0115 a0001c0001t0009g0115	1	79	0.0127	20	c.-11 others(39): Show c.-114-1444_-114-1443insTATATATATATATATATACA	BCLAF1	ENSG00000029363.17	transcript	ENST00000531224.6	protein_coding	1/12			chr6	TogoVar
BCO2_chr11_112170512_112223946	112192925	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	15	0.0667	20	c.294 others(35): Show c.294-531_294-530insTTTTTTTTTTTTTTTTTTTT	BCO2	ENSG00000197580.13	transcript	ENST00000357685.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
BCO2_chr11_112170512_112223946	112196915	T T	TCCTTCCC others(13): Show TCCTTCCCTTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03209.hp2 HG02280.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0108 a0001c0001t0001g0029 a0001c0001t0001g0108	2	151	0.0132	20	c.736 others(37): Show c.736+2191_736+2210dupCCTTCCCTTCCCTTCCCTTC	BCO2	ENSG00000197580.13	transcript	ENST00000357685.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
BCORL1_chrX_129977635_130063071	130043746	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0049 a0001c0001t0010g0049	1	148	0.0068	20	c.484 others(39): Show c.4840+4484_4840+4503dupATATATATATATATATATAT	BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chrX	TogoVar
BCOR_chrX_40046251_40102958	40098046	G G	GCCCGCCC others(13): Show GCCCGCCCTACCTCCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0186 a0001c0002t0001g0186	1	255	0.0039	20	c.-89 others(29): Show c.-892_-873dupAGGGAGGGAGGTAGGGCGGG	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		89		chrX	TogoVar
BCR_chr22_23175509_23323037	23209544	T T	TTTTTATT others(13): Show TTTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02976.hp2 HG03098.hp1 others(1): Show HG02818.hp1 HG02976.hp2 HG03098.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0198 a0001c0001t0209 a0001c0001t0210 others(1): Show a0001c0001t0198 a0001c0001t0209 a0001c0001t0210 a0001c0002t0211	a0001c0001t0198g0259 a0001c0001t0209g0129 a0001c0001t0210g0128 others(1): Show a0001c0001t0198g0259 a0001c0001t0209g0129 a0001c0001t0210g0128 a0001c0002t0211g0127	4	276	0.0145	20	c.127 others(41): Show c.1279+27319_1279+27320insATTTTATTTTATTTTATTTT	BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCR_chr22_23175509_23323037	23231506	C C	CATAAAAT others(13): Show CATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG00738.hp1 others(12): Show HG00280.hp2 HG00609.hp2 HG00738.hp1 HG01167.hp2 HG01169.hp2 HG02132.hp2 HG02486.hp1 HG02717.hp1 HG02735.hp2 HG02886.hp1 HG02896.hp1 HG03139.hp2 NA18997.hp1 NA19004.hp2 NA20805.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003 a0002c0007 a0006c0039	a0001c0001t0033 a0001c0001t0122 a0001c0001t0192 others(11): Show a0001c0001t0033 a0001c0001t0122 a0001c0001t0192 a0001c0001t0196 a0001c0002t0005 a0001c0002t0034 a0001c0002t0201 a0001c0004t0032 a0001c0004t0089 a0001c0004t0090 a0001c0005t0151 a0002c0003t0138 a0002c0007t0056 a0006c0039t0140	a0001c0001t0033g0235 a0001c0001t0122g0124 a0001c0001t0192g0209 others(12): Show a0001c0001t0033g0235 a0001c0001t0122g0124 a0001c0001t0192g0209 a0001c0001t0196g0134 a0001c0002t0005g0261 a0001c0002t0034g0204 a0001c0002t0034g0207 a0001c0002t0201g0178 a0001c0004t0032g0094 a0001c0004t0089g0012 a0001c0004t0090g0006 a0001c0005t0151g0092 a0002c0003t0138g0217 a0002c0007t0056g0078 a0006c0039t0140g0102	15	58	0.2586	20	c.128 others(41): Show c.1280-22267_1280-22248dupATAAAATAAAATAAAATAAA	BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCR_chr22_23175509_23323037	23297204	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0032 a0001c0004t0032	a0001c0004t0032g0094 a0001c0004t0032g0094	1	281	0.0036	20	c.301 others(39): Show c.3012+2051_3012+2052insTTTTTTTTTTTTTTTTTTTT	BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr22	TogoVar
BDH1_chr3_197504783_197560968	197510599	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp2 NA18939.hp2 NA18957.hp2 HG01255.hp2 NA18939.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0080 a0001c0001t0001g0096 a0001c0001t0003g0031 a0001c0001t0001g0080 a0001c0001t0001g0096 a0001c0001t0003g0031	3	183	0.0164	20	c.12 others(31): Show c.1276_*1295dupACACACACACACACACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1295		chr3	TogoVar
BDH2_chr4_103072592_103104834	103102328	C C	CATATATA others(13): Show CATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0110 a0001c0001t0006g0110	1	307	0.0033	20	c.-25 others(31): Show c.-2567_-2566insATATATATATATATATATAT	BDH2	ENSG00000164039.15	transcript	ENST00000296424.9	protein_coding		2495		chr4	TogoVar
BDKRB2_chr14_96199839_96249164	96228085	C C	CTGCCCTG others(13): Show CTGCCCTGGGAGAAGGGAGAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00621.hp2 others(41): Show HG00423.hp2 HG00558.hp2 HG00621.hp2 HG00673.hp1 HG01167.hp1 HG01261.hp1 HG01496.hp1 HG01928.hp2 HG02015.hp1 HG02080.hp2 HG02083.hp2 HG02273.hp1 HG02293.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG03490.hp1 HG03654.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp1 NA18956.hp2 NA18960.hp2 NA18961.hp2 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19009.hp1 NA19012.hp2 NA19065.hp2 NA19088.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0021 a0001c0001t0030 a0001c0001t0042 a0001c0001t0043 a0001c0002t0002	a0001c0001t0001g0121 a0001c0001t0001g0348 a0001c0001t0003g0003 others(37): Show a0001c0001t0001g0121 a0001c0001t0001g0348 a0001c0001t0003g0003 a0001c0001t0003g0037 a0001c0001t0003g0120 a0001c0001t0003g0129 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0165 a0001c0001t0003g0187 a0001c0001t0003g0199 a0001c0001t0003g0230 a0001c0001t0003g0264 a0001c0001t0003g0306 a0001c0001t0003g0308 a0001c0001t0003g0315 a0001c0001t0003g0352 a0001c0001t0003g0353 a0001c0001t0003g0362 a0001c0001t0003g0363 a0001c0001t0003g0365 a0001c0001t0003g0366 a0001c0001t0003g0367 a0001c0001t0003g0368 a0001c0001t0003g0369 a0001c0001t0003g0370 a0001c0001t0003g0372 a0001c0001t0003g0379 a0001c0001t0003g0380 a0001c0001t0004g0371 a0001c0001t0021g0088 a0001c0001t0021g0127 a0001c0001t0021g0335 a0001c0001t0030g0130 a0001c0001t0030g0164 a0001c0001t0042g0373 a0001c0001t0043g0307 a0001c0002t0002g0163 a0001c0002t0002g0328 a0001c0002t0002g0374	44	434	0.1014	20	c.-39 others(37): Show c.-39-8982_-39-8963dupGCCCTGGGAGAAGGGAGAGT	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
BDP1_chr5_71450651_71572820	71506758	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0026 a0026	a0026c0032 a0026c0032	a0026c0032t0001 a0026c0032t0001	a0026c0032t0001g0115 a0026c0032t0001g0115	1	66	0.0152	20	c.237 others(39): Show c.2372+2011_2372+2030dupATATATATATATATATATAT	BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	16/38		INFO_REALIGN_3_PRIME	chr5	TogoVar
BDP1_chr5_71450651_71572820	71506786	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0319 a0004c0004t0004g0319	1	170	0.0059	20	c.237 others(39): Show c.2372+2054_2372+2073dupACACACACACACACACACAC	BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	16/38		INFO_REALIGN_3_PRIME	chr5	TogoVar
BEAN1_chr16_66422295_66487833	66474569	A A	AGAGGGAG others(13): Show AGAGGGAGGGAGAGAGGGAGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	264	0.0038	20	c.290 others(37): Show c.290-2979_290-2960dupAGAGGGAGGGAGGGAGGGAG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474610	G G	GAGGGAGG others(13): Show GAGGGAGGGAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	250	0.0040	20	c.290 others(37): Show c.290-2943_290-2942insGAGGGAGGAAGGAAGGGAGG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474618	A A	AAGGAAGG others(13): Show AAGGAAGGGAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02602.hp1 HG02818.hp2 others(1): Show HG01169.hp1 HG02602.hp1 HG02818.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0131 a0001c0001t0001g0180 a0001c0001t0003g0155 others(1): Show a0001c0001t0001g0131 a0001c0001t0001g0180 a0001c0001t0003g0155 a0001c0001t0004g0042	4	35	0.1143	20	c.290 others(37): Show c.290-2939_290-2938insAAGGGAGGAAGGGAGGGAGG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEND2_chrX_18157931_18225886	18224026	T T	TATATATA others(13): Show TATATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0179 a0002c0002t0001g0179	1	292	0.0034	20	c.-32 others(31): Show c.-3277_-3276insGTGTATATATATATATATAT	BEND2	ENSG00000177324.14	transcript	ENST00000380033.9	protein_coding		3141		chrX	TogoVar
BEND3_chr6_107060182_107120515	107109442	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	25	0.0400	20	c.-12 others(37): Show c.-12+5647_-12+5648insTTTTTTTTTTTTTTTTTTTT	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	1/3			chr6	TogoVar
BEST3_chr12_69648609_69704303	69680310	C C	CTTCTTTT others(13): Show CTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01167.hp1 HG02165.hp1 others(4): Show HG01099.hp2 HG01167.hp1 HG02165.hp1 HG02647.hp2 HG03239.hp2 HG04228.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0032 a0001c0001t0001g0228 a0001c0001t0002g0275 others(3): Show a0001c0001t0001g0032 a0001c0001t0001g0228 a0001c0001t0002g0275 a0001c0001t0002g0276 a0002c0002t0002g0242 a0002c0002t0002g0249	7	137	0.0511	20	c.482 others(37): Show c.482-1418_482-1417insAAAAAAAAAAAAAAAAAGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BEST3_chr12_69648609_69704303	69684981	G G	GTTCTATT others(13): Show GTTCTATTCTATTCTATTCTA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03688.hp1 HG03688.hp2 others(3): Show HG02818.hp1 HG03688.hp1 HG03688.hp2 NA19043.hp2 NA19240.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0003c0003t0001	a0001c0001t0001g0205 a0001c0001t0001g0308 a0001c0001t0002g0288 others(3): Show a0001c0001t0001g0205 a0001c0001t0001g0308 a0001c0001t0002g0288 a0001c0001t0002g0295 a0001c0001t0010g0239 a0003c0003t0001g0312	6	148	0.0405	20	c.482 others(37): Show c.482-6108_482-6089dupTAGAATAGAATAGAATAGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BEST3_chr12_69648609_69704303	69700985	T T	TTCCTTCC others(13): Show TTCCTTCCTTCCCTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01070.hp2 HG00733.hp1 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0113 a0001c0001t0001g0118	2	127	0.0157	20	c.-17 others(31): Show c.-1797_-1796insGGGAGGGAGGGAAGGAAGGA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding		1683		chr12	TogoVar
BEST4_chr1_44778585_44793170	44779537	T T	TTTTACCA others(13): Show TTTTACCACACAATTTAGCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0026 a0005c0007t0001g0026	1	388	0.0026	20	c.46 others(31): Show c.4672_*4673insTAGCTAAATTGTGTGGTAAA	BEST4	ENSG00000142959.5	transcript	ENST00000372207.4	protein_coding		4047		chr1	TogoVar
BFSP1_chr20_17488905_17536379	17527532	C C	CCTGCAGG others(13): Show CCTGCAGGAGATCGAGACCAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0276 a0001c0002t0001g0276	1	394	0.0025	20	c.378 others(37): Show c.378-2625_378-2624insATGGTCTCGATCTCCTGCAG	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	1/7			chr20	TogoVar
BFSP1_chr20_17488905_17536379	17529064	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0041 a0001c0003t0002g0041	1	152	0.0066	20	c.377 others(37): Show c.377+1869_377+1888dupACACACACACACACACACAC	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	1/7			chr20	TogoVar
BFSP1_chr20_17488905_17536379	17529090	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02809.hp1 HG02055.hp2 HG02809.hp1	a0005 a0009 a0005 a0009	a0005c0009 a0009c0019 a0005c0009 a0009c0019	a0005c0009t0001 a0009c0019t0002 a0005c0009t0001 a0009c0019t0002	a0005c0009t0001g0022 a0009c0019t0002g0021 a0005c0009t0001g0022 a0009c0019t0002g0021	2	373	0.0054	20	c.377 others(37): Show c.377+1862_377+1863insTCTCACACACACACACACAC	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	1/7			chr20	TogoVar
BFSP2_chr3_133395056_133480208	133424216	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	224	0.0045	20	c.490 others(39): Show c.490-23100_490-23099insGTGTGTGTGTGTGTGTGTGT	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133449982	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01346.hp1 HG01934.hp1 others(3): Show HG01081.hp1 HG01346.hp1 HG01934.hp1 HG01993.hp2 HG02818.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0066 a0001c0001t0001g0075 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0103 a0001c0001t0001g0146 a0001c0001t0001g0241	6	73	0.0822	20	c.730 others(35): Show c.730-303_730-284dupAGGAAGGAAGGAAGGAAGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BHLHA9_chr17_1265444_1276815	1268402	G G	GCCCCGCC others(13): Show GCCCCGCCCGCCCCCGCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	425	0.0024	20	c.-21 others(31): Show c.-2162_-2161insCCCCGCCCGCCCCCGCCCGC	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		2041		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1275531	G G	GGTGAGTG others(13): Show GGTGAGTGTGTGTGGGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0000 a0001c0009t0002g0000	1	259	0.0039	20	c.42 others(31): Show c.4260_*4261insGTGAGTGTGTGTGGGTGAGT	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		3717		chr17	TogoVar
BHMT2_chr5_79064767_79095069	79087014	G G	GTGTGCAT others(13): Show GTGTGCATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	59	0.0169	20	c.101 others(39): Show c.1011-1478_1011-1477insGTGCATATATATATATATAT	BHMT2	ENSG00000132840.10	transcript	ENST00000255192.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BICC1_chr10_58507872_58836435	58601140	T T	TAATATAT others(13): Show TAATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02257.hp2 HG02523.hp2 others(2): Show HG01256.hp2 HG02257.hp2 HG02523.hp2 HG03041.hp2 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0006 a0001c0001t0037 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0037 a0004c0005t0029	a0001c0001t0001g0072 a0001c0001t0006g0079 a0001c0001t0006g0085 others(2): Show a0001c0001t0001g0072 a0001c0001t0006g0079 a0001c0001t0006g0085 a0001c0001t0037g0113 a0004c0005t0029g0009	5	21	0.2381	20	c.191 others(39): Show c.191-19715_191-19714insAATATATATATATATATATA	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20			chr10	TogoVar
BICC1_chr10_58507872_58836435	58601140	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0004 a0001c0001t0012g0004	1	17	0.0588	20	c.191 others(39): Show c.191-19703_191-19684dupATATATATATATATATATAT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58607317	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	22	0.0455	20	c.191 others(39): Show c.191-13530_191-13511dupTAAATAAATAAATAAATAAA	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58769400	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02683.hp1 HG03471.hp2 others(1): Show HG02109.hp2 HG02683.hp1 HG03471.hp2 HG04204.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0003 a0001c0001t0039 a0001c0001t0041 others(1): Show a0001c0001t0003 a0001c0001t0039 a0001c0001t0041 a0006c0012t0017	a0001c0001t0003g0045 a0001c0001t0039g0126 a0001c0001t0041g0130 others(1): Show a0001c0001t0003g0045 a0001c0001t0039g0126 a0001c0001t0041g0130 a0006c0012t0017g0053	4	111	0.0360	20	c.308 others(39): Show c.308-15600_308-15599insATATATATATATATATATAT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58769402	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA18972.hp1 HG01358.hp2 NA18972.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0011 a0002c0002 a0005c0011	a0002c0002t0005 a0005c0011t0005 a0002c0002t0005 a0005c0011t0005	a0002c0002t0005g0023 a0005c0011t0005g0030 a0002c0002t0005g0023 a0005c0011t0005g0030	2	84	0.0238	20	c.308 others(39): Show c.308-15598_308-15597insATATATATATATATATATAT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32118060	A A	ATATTTTA others(13): Show ATATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG01081.hp2 others(66): Show HG00438.hp1 HG00609.hp2 HG01081.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02109.hp1 HG02148.hp1 HG02155.hp1 HG02300.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18968.hp1 NA18969.hp1 NA18975.hp1 NA18977.hp2 NA18981.hp2 NA18994.hp1 NA19011.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19090.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0048 a0001c0001t0049 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0020 a0001c0002t0037 a0001c0002t0041 a0001c0002t0045 a0001c0003t0002 a0001c0003t0013 a0001c0003t0042 a0001c0003t0052 a0001c0003t0053 a0001c0007t0050 a0001c0008t0003	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 others(66): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0279 a0001c0001t0002g0205 a0001c0001t0003g0177 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0284 a0001c0001t0010g0003 a0001c0001t0011g0235 a0001c0001t0011g0269 a0001c0001t0012g0229 a0001c0001t0013g0277 a0001c0001t0017g0095 a0001c0001t0018g0210 a0001c0001t0018g0224 a0001c0001t0019g0173 a0001c0001t0019g0187 a0001c0001t0020g0230 a0001c0001t0024g0209 a0001c0001t0038g0096 a0001c0001t0043g0236 a0001c0001t0044g0180 a0001c0001t0048g0232 a0001c0001t0049g0242 a0001c0001t0056g0278 a0001c0001t0058g0213 a0001c0001t0059g0215 a0001c0001t0060g0244 a0001c0001t0061g0211 a0001c0002t0001g0175 a0001c0002t0001g0178 a0001c0002t0001g0212 a0001c0002t0001g0214 a0001c0002t0001g0216 a0001c0002t0001g0221 a0001c0002t0001g0231 a0001c0002t0001g0238 a0001c0002t0002g0172 a0001c0002t0002g0208 a0001c0002t0002g0218 a0001c0002t0002g0223 a0001c0002t0002g0227 a0001c0002t0002g0243 a0001c0002t0002g0276 a0001c0002t0003g0234 a0001c0002t0020g0228 a0001c0002t0037g0094 a0001c0002t0041g0176 a0001c0002t0045g0198 a0001c0003t0002g0240 a0001c0003t0013g0192 a0001c0003t0042g0274 a0001c0003t0052g0286 a0001c0003t0053g0285 a0001c0007t0050g0186 a0001c0008t0003g0207	69	193	0.3575	20	c.213 others(39): Show c.213+10527_213+10546dupTATTTTATTTTATTTTATTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32118069	T T	TTTATTTT others(13): Show TTTATTTTATTTTATTTTATG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03710.hp2 HG02132.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0225 a0001c0001t0003g0226	2	288	0.0069	20	c.213 others(39): Show c.213+10544_213+10545insGTTATTTTATTTTATTTTAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32135022	C C	CCTCCTCT others(13): Show CCTCCTCTCCTCTCCTCTCCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02109.hp2 HG02451.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0012 a0001c0005t0009 a0001c0005t0012	a0001c0005t0009g0271 a0001c0005t0012g0270 a0001c0005t0009g0271 a0001c0005t0012g0270	2	49	0.0408	20	c.213 others(39): Show c.213+27497_213+27498insTCTCCTCTCCTCTCCTCTCC	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32142453	C C	CCTATCTA others(13): Show CCTATCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03834.hp2 NA18968.hp1 others(1): Show HG02818.hp1 HG03834.hp2 NA18968.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0034 a0001c0002t0002 a0001c0003t0052 others(1): Show a0001c0001t0034 a0001c0002t0002 a0001c0003t0052 a0001c0003t0053	a0001c0001t0034g0133 a0001c0002t0002g0276 a0001c0003t0052g0286 others(1): Show a0001c0001t0034g0133 a0001c0002t0002g0276 a0001c0003t0052g0286 a0001c0003t0053g0285	4	134	0.0299	20	c.213 others(39): Show c.213+34926_213+34945dupCTATCTATCTATCTATCTAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32198323	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19084.hp1 HG02080.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0077 a0001c0002t0002g0045 a0001c0002t0002g0077	2	126	0.0159	20	c.214 others(39): Show c.214-17922_214-17921insATATATATATATATATATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32283359	A A	ACCACTCC others(13): Show ACCACTCCACTCCACTCCACT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02109.hp1 HG02622.hp1 others(4): Show HG00323.hp2 HG02109.hp1 HG02622.hp1 HG03471.hp2 HG03579.hp1 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0017 others(3): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0017 a0001c0001t0018 a0001c0001t0049 a0001c0002t0002	a0001c0001t0003g0246 a0001c0001t0006g0158 a0001c0001t0017g0095 others(4): Show a0001c0001t0003g0246 a0001c0001t0006g0158 a0001c0001t0017g0095 a0001c0001t0018g0210 a0001c0001t0018g0224 a0001c0001t0049g0242 a0001c0002t0002g0253	7	173	0.0405	20	c.427 others(39): Show c.427-10619_427-10600dupCCACTCCACTCCACTCCACT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346560	A A	ATATATAT others(13): Show ATATATATATATATACGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp1 HG01952.hp1 others(1): Show HG00741.hp1 HG01884.hp1 HG01952.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 a0001c0001t0001 a0001c0001t0004 a0001c0001t0024	a0001c0001t0001g0174 a0001c0001t0001g0203 a0001c0001t0004g0019 others(1): Show a0001c0001t0001g0174 a0001c0001t0001g0203 a0001c0001t0004g0019 a0001c0001t0024g0267	4	264	0.0152	20	c.276 others(39): Show c.2764+7595_2764+7596insCGTGTGTATATATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD2_chr9_92706363_92769833	92757312	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01346.hp1 HG00280.hp1 HG01346.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0012 a0001c0001 a0003c0012	a0001c0001t0005 a0003c0012t0005 a0001c0001t0005 a0003c0012t0005	a0001c0001t0005g0290 a0003c0012t0005g0289 a0001c0001t0005g0290 a0003c0012t0005g0289	2	116	0.0172	20	c.240 others(37): Show c.240+7173_240+7192dupTTTTTTTTTTTTTTTTTTTT	BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/6			chr9	TogoVar
BICDL1_chr12_119984236_120099494	120000542	T T	TGTTTCTT others(13): Show TGTTTCTTACGGAGACTTATA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0255 a0001c0001t0005g0255	1	294	0.0034	20	c.645 others(37): Show c.645+1808_645+1827dupTTTCTTACGGAGACTTATAG	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120013439	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0254 a0001c0001t0005g0254	1	44	0.0227	20	c.645 others(39): Show c.645+14728_645+14747dupGTGTGTGTGTGTGTGTGTGT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120033367	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02647.hp2 HG01243.hp2 HG01884.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0283 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0283	3	111	0.0270	20	c.646 others(39): Show c.646-28341_646-28322dupTTTTTTTTTTTTTTTTTTTT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120057818	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	83	0.0120	20	c.646 others(37): Show c.646-3881_646-3862dupTTTTTTTTTTTTTTTTTTTT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar

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