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
BCAS3_chr17_60672851_61397831	60973585	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0027 a0002c0006t0002g0027	1	57	0.0175	30	c.122 others(51): Show c.1222-16386_1222-16385insTATATATATATATATATATATATA TATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	14/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	61191780	A A	AAAAAGAA others(23): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03540.hp2 HG02897.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0002 a0002c0003t0002 a0001c0004t0002 a0002c0003t0002	a0001c0004t0002g0072 a0002c0003t0002g0048 a0001c0004t0002g0072 a0002c0003t0002g0048	2	30	0.0667	30	c.242 others(53): Show c.2425+107245_2425+107246insGAAAAGAAAAGAAAAGAAAAGA AAAGAAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61375246	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGCGCGCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0058 a0001c0004t0001g0058	1	51	0.0196	30	c.259 others(49): Show c.2593+6761_2593+6762insGTGCGCGCGCGCGCGCGCACATGTGT GTGT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24936712	A A	ATCTCTCT others(23): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01106.hp2 others(14): Show HG00735.hp2 HG01069.hp1 HG01106.hp2 HG01192.hp1 HG01993.hp1 HG02572.hp1 HG02683.hp1 HG02735.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03453.hp2 HG03942.hp1 NA19030.hp1 NA19085.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(13): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0053 a0001c0001t0078 a0001c0001t0080 a0001c0001t0095 a0001c0001t0103 a0001c0001t0111 a0001c0001t0116 a0003c0006t0118	a0001c0001t0003g0240 a0001c0001t0007g0230 a0001c0001t0008g0055 others(14): Show a0001c0001t0003g0240 a0001c0001t0007g0230 a0001c0001t0008g0055 a0001c0001t0010g0056 a0001c0001t0010g0057 a0001c0001t0014g0271 a0001c0001t0016g0053 a0001c0001t0018g0054 a0001c0001t0022g0193 a0001c0001t0053g0174 a0001c0001t0078g0083 a0001c0001t0080g0050 a0001c0001t0095g0059 a0001c0001t0103g0041 a0001c0001t0111g0229 a0001c0001t0116g0051 a0003c0006t0118g0173	17	139	0.1223	30	c.6+1 others(45): Show c.6+12214_6+12215insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	1/10			chr12	TogoVar
BCAT2_chr19_48790064_48816029	48806000	G G	GCCATCCC others(23): Show GCCATCCCTCCCCTGACTGTCCCCTCTCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00639.hp1 others(107): Show HG00099.hp1 HG00423.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01169.hp1 HG01243.hp1 HG01257.hp1 HG01261.hp2 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02622.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG06807.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18970.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19067.hp2 NA19068.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(50): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0076 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0139 a0001c0001t0001g0157 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0201	110	239	0.4603	30	c.300 others(45): Show c.300+516_300+517insTGGGAGAGGGGACAGTCAGGGGAGGGATGG	BCAT2	ENSG00000105552.15	transcript	ENST00000316273.11	protein_coding	3/10			chr19	TogoVar
BCHE_chr3_165767904_165842423	165791948	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0223 a0001c0001t0006g0223	1	190	0.0053	30	c.151 others(49): Show c.1518-5667_1518-5638dupATTTTATTTTATTTTATTTTATTTTA TTTT	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BCKDK_chr16_31103386_31117791	31103583	C C	CTCTCCGT others(23): Show CTCTCCGTCTCCGTCTCCGTCTCCGTCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	188	0.0053	30	c.-50 others(41): Show c.-5074_-5073insTCTCCGTCTCCGTCTCCGTCTCCGTCTCCG	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4802		chr16	TogoVar
BCKDK_chr16_31103386_31117791	31103589	C C	CTCTCCGT others(23): Show CTCTCCGTCTCCGTCTCCGTCTCCGTCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	167	0.0060	30	c.-50 others(41): Show c.-5068_-5067insTCTCCGTCTCCGTCTCCGTCTCCGTCTCCG	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4796		chr16	TogoVar
BCL11A_chr2_60452194_60558654	60467689	G G	GATGGTGA others(23): Show GATGGTGATGGTGGTGGTGGTGGTGATGCTA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0252 a0001c0001t0013g0252	1	260	0.0038	30	c.487 others(47): Show c.487+1042_487+1043insTAGCATCACCACCACCACCACCATCACC AT	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60507316	G G	GGGGAAGG others(23): Show GGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03834.hp1 HG02145.hp2 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0024 a0001c0002t0004g0076 a0001c0002t0001g0024 a0001c0002t0004g0076	2	77	0.0260	30	c.386 others(49): Show c.386-38513_386-38484dupTTCCCTTCCCTTCCCTTCCCTTCCCT TCCC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG02602.hp2 HG00099.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0069 a0002c0002t0002g0017 a0002c0002t0002g0069	2	220	0.0091	30	c.-43 others(41): Show c.-4377_-4376insAATATATATATATATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	219	0.0046	30	c.-43 others(41): Show c.-4377_-4376insAAAAAAAAAATATATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111120979	T T	TGCCGCTG others(23): Show TGCCGCTGCCGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0205 a0001c0001t0009g0205	1	45	0.0222	30	c.-21 others(39): Show c.-218_-217insTGCCGCCGCCGCCGCCGCCGCCGCCGCCGC	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	1/4	2761	INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL2L14_chr12_12065939_12104695	12076099	A A	AGGGGAGG others(23): Show AGGGGAGGGTGGGATGCCCGGAAAATGCATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG00741.hp2 others(9): Show HG00099.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01192.hp1 HG01358.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG03669.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0002c0004t0001	a0001c0001t0001g0027 a0001c0001t0001g0203 a0001c0001t0001g0279 others(8): Show a0001c0001t0001g0027 a0001c0001t0001g0203 a0001c0001t0001g0279 a0001c0002t0002g0201 a0001c0002t0002g0278 a0001c0003t0001g0065 a0001c0003t0001g0369 a0001c0003t0001g0372 a0001c0003t0001g0373 a0001c0003t0001g0374 a0002c0004t0001g0202	12	377	0.0318	30	c.-7- others(45): Show c.-7-3095_-7-3066dupGCCCGGAAAATGCATGGGGGAGGGTGGGAT	BCL2L14	ENSG00000121380.12	transcript	ENST00000308721.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
BCL2L1_chr20_31659458_31727868	31667484	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	41	0.0244	30	c.565 others(47): Show c.565-1428_565-1399dupACACACACACACACACACACACACACAC AC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31691520	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02896.hp1 NA19043.hp2 HG01109.hp1 HG02896.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0159	3	89	0.0337	30	c.565 others(49): Show c.565-25464_565-25435dupATTTTATTTTATTTTATTTTATTTTA TTTT	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCO1_chr16_81233689_81296142	81235171	T T	TATATATA others(23): Show TATATATATATATATATATATATATAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	396	0.0025	30	c.-37 others(41): Show c.-3738_-3737insATATATATATATATATATATATATAAAAAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3517		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235210	A A	ATATATAT others(23): Show ATATATATATAAATAAATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 NA20805.hp2 HG02486.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0001c0005 a0002c0004	a0001c0005t0001 a0002c0004t0001 a0001c0005t0001 a0002c0004t0001	a0001c0005t0001g0152 a0002c0004t0001g0129 a0001c0005t0001g0152 a0002c0004t0001g0129	2	247	0.0081	30	c.-36 others(41): Show c.-3699_-3698insTATATATATAAATAAATATATATATATATT	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3478		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235212	A A	ATGTATAT others(23): Show ATGTATATATATATAAATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03579.hp1 HG03225.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0161 a0001c0001t0001g0162	2	392	0.0051	30	c.-36 others(41): Show c.-3697_-3696insTGTATATATATATAAATATATATATATATT	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3476		chr16	TogoVar
BCORL1_chrX_129977635_130063071	130043746	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	148	0.0068	30	c.484 others(49): Show c.4840+4474_4840+4503dupATATATATATATATATATATATATAT ATAT	BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chrX	TogoVar
BCOR_chrX_40046251_40102958	40046526	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18961.hp1 NA18964.hp1 NA18956.hp2 NA18961.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0096 a0001c0001t0001g0160 a0001c0002t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0160 a0001c0002t0001g0095	3	254	0.0118	30	c.55 others(41): Show c.5582_*5583insCATATATATATATATATATATATATATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4724		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046548	A A	ATATATGT others(23): Show ATATATGTGTATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	249	0.0040	30	c.55 others(41): Show c.5560_*5561insCATATATATATATATATATATACACATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4702		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046552	A A	ATATATGT others(23): Show ATATATGTATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18967.hp1 NA19005.hp1 NA18949.hp1 NA18967.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0082 a0001c0001t0001g0010 a0001c0001t0001g0082	3	240	0.0125	30	c.55 others(41): Show c.5556_*5557insCATATATATATATATATATATATACATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4698		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046600	G G	GTATATAT others(23): Show GTATATATATATATATATATATATGTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02523.hp1 NA18989.hp1 others(2): Show HG00544.hp1 HG02523.hp1 NA18989.hp1 NA19007.hp1 NA19090.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0009 a0001c0001 a0001c0004 a0005c0009	a0001c0001t0001 a0001c0004t0001 a0005c0009t0001 a0001c0001t0001 a0001c0004t0001 a0005c0009t0001	a0001c0001t0001g0109 a0001c0004t0001g0069 a0001c0004t0001g0086 others(2): Show a0001c0001t0001g0109 a0001c0004t0001g0069 a0001c0004t0001g0086 a0001c0004t0001g0102 a0005c0009t0001g0068	5	154	0.0325	30	c.55 others(41): Show c.5508_*5509insTATATACATATATATATATATATATATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4650		chrX	TogoVar
BDH1_chr3_197504783_197560968	197542521	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	172	0.0058	30	c.83+ others(45): Show c.83+3839_83+3840insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	3/7			chr3	TogoVar
BEND7_chr10_13436088_13534014	13474492	C C	CCGATACC others(23): Show CCGATACCCGTCACCGCTGTTGGACTCGGGT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0205 a0001c0004t0001g0205	1	298	0.0034	30	c.106 others(49): Show c.1063+6377_1063+6406dupACCCGAGTCCAACAGCGGTGACGGGT ATCG	BEND7	ENSG00000165626.19	transcript	ENST00000466271.3	protein_coding	6/8			chr10	TogoVar
BFSP2_chr3_133395056_133480208	133426014	G G	GAAGGGAA others(23): Show GAAGGGAAGGAAAGGGAAAGAAAGGGAAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp1 others(193): Show HG00099.hp1 HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp1 NA19004.hp2 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0002c0007 a0003c0010 a0004c0006 a0005c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0002c0003t0001 a0002c0007t0001 a0003c0010t0001 a0004c0006t0001 a0005c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(190): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0222 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0002t0001g0016 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0045 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0111 a0001c0002t0001g0116 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0128 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0159 a0001c0002t0001g0169 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0196 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0216 a0001c0002t0001g0220 a0001c0002t0001g0223 a0001c0002t0001g0227 a0001c0002t0001g0229 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0236 a0001c0002t0001g0240 a0001c0002t0001g0255 a0001c0002t0001g0257 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0002g0225 a0001c0004t0001g0033 a0001c0004t0001g0034 a0002c0003t0001g0003 a0002c0003t0001g0145 a0002c0003t0001g0261 a0002c0007t0001g0243 a0003c0010t0001g0156 a0004c0006t0001g0172 a0005c0005t0001g0093	196	226	0.8673	30	c.490 others(49): Show c.490-21294_490-21293insAAAGGGAAAGAAAGGGAAGGAAAGGG AAGG	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133426026	A A	AGGAAAGA others(23): Show AGGAAAGAAAGGGAAGGAAAGGGAAGGAAAG	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0215 a0001c0002t0001g0215	1	271	0.0037	30	c.490 others(49): Show c.490-21289_490-21288insAAAGAAAGGGAAGGAAAGGGAAGGAA AGGG	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BHMT_chr5_79106809_79137288	79136989	T T	TATATATA others(23): Show TATATATATGAATATATATTCATATATATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	339	0.0029	30	c.58 others(41): Show c.5873_*5874insATATATATGAATATATATTCATATATATGA	BHMT	ENSG00000145692.15	transcript	ENST00000274353.10	protein_coding		4702		chr5	TogoVar
BICD1_chr12_32101847_32388633	32118060	A A	ATATTTTA others(23): Show ATATTTTATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01884.hp2 HG02818.hp2 others(1): Show HG01358.hp1 HG01884.hp2 HG02818.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0035	a0001c0001t0001g0283 a0001c0001t0009g0185 a0001c0001t0012g0233 others(1): Show a0001c0001t0001g0283 a0001c0001t0009g0185 a0001c0001t0012g0233 a0001c0001t0035g0101	4	128	0.0313	30	c.213 others(49): Show c.213+10517_213+10546dupTATTTTATTTTATTTTATTTTATTTT ATTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32177712	T T	TAAATATA others(23): Show TAAATATATAAATATATTTATATATTTATAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00438.hp2 others(168): Show HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18951.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18988.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(57): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0020 a0001c0002t0026 a0001c0002t0031 a0001c0002t0040 a0001c0002t0041 a0001c0002t0045 a0001c0002t0046 a0001c0002t0051 a0001c0003t0002 a0001c0003t0013 a0001c0003t0042 a0001c0003t0052 a0001c0003t0053 a0001c0004t0014 a0001c0005t0009 a0001c0005t0012 a0001c0007t0050 a0001c0008t0003 a0002c0010t0008	a0001c0001t0001g0058 a0001c0001t0001g0174 a0001c0001t0001g0181 others(168): Show a0001c0001t0001g0058 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0257 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0289 a0001c0001t0002g0205 a0001c0001t0003g0177 a0001c0001t0003g0189 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0217 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0222 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0246 a0001c0001t0003g0266 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0004g0019 a0001c0001t0004g0032 a0001c0001t0004g0113 a0001c0001t0004g0151 a0001c0001t0004g0170 a0001c0001t0004g0287 a0001c0001t0006g0021 a0001c0001t0006g0027 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0150 a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0006g0159 a0001c0001t0006g0161 a0001c0001t0006g0163 a0001c0001t0006g0166 a0001c0001t0007g0010 a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0008g0144 a0001c0001t0009g0081 a0001c0001t0009g0084 a0001c0001t0009g0086 a0001c0001t0009g0162 a0001c0001t0009g0185 a0001c0001t0010g0003 a0001c0001t0010g0015 a0001c0001t0010g0018 a0001c0001t0010g0125 a0001c0001t0010g0160 a0001c0001t0011g0235 a0001c0001t0011g0254 a0001c0001t0011g0264 a0001c0001t0011g0269 a0001c0001t0012g0229 a0001c0001t0012g0258 a0001c0001t0013g0277 a0001c0001t0015g0020 a0001c0001t0015g0042 a0001c0001t0016g0037 a0001c0001t0016g0041 a0001c0001t0016g0152 a0001c0001t0017g0091 a0001c0001t0018g0210 a0001c0001t0018g0224 a0001c0001t0018g0261 a0001c0001t0019g0173 a0001c0001t0019g0184 a0001c0001t0019g0187 a0001c0001t0020g0230 a0001c0001t0024g0209 a0001c0001t0024g0267 a0001c0001t0028g0005 a0001c0001t0030g0030 a0001c0001t0032g0033 a0001c0001t0034g0133 a0001c0001t0043g0236 a0001c0001t0044g0180 a0001c0001t0047g0247 a0001c0001t0048g0232 a0001c0001t0049g0242 a0001c0001t0055g0039 a0001c0001t0056g0278 a0001c0001t0057g0245 a0001c0001t0058g0213 a0001c0001t0059g0215 a0001c0001t0060g0244 a0001c0001t0061g0211 a0001c0002t0001g0083 a0001c0002t0001g0175 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0197 a0001c0002t0001g0212 a0001c0002t0001g0214 a0001c0002t0001g0216 a0001c0002t0001g0221 a0001c0002t0001g0231 a0001c0002t0001g0238 a0001c0002t0001g0260 a0001c0002t0001g0275 a0001c0002t0002g0067 a0001c0002t0002g0082 a0001c0002t0002g0088 a0001c0002t0002g0172 a0001c0002t0002g0195 a0001c0002t0002g0208 a0001c0002t0002g0218 a0001c0002t0002g0223 a0001c0002t0002g0227 a0001c0002t0002g0243 a0001c0002t0002g0253 a0001c0002t0002g0276 a0001c0002t0003g0234 a0001c0002t0004g0002 a0001c0002t0004g0004 a0001c0002t0004g0012 a0001c0002t0004g0013 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0171 a0001c0002t0005g0001 a0001c0002t0005g0007 a0001c0002t0005g0009 a0001c0002t0005g0011 a0001c0002t0005g0165 a0001c0002t0005g0290 a0001c0002t0007g0006 a0001c0002t0007g0023 a0001c0002t0007g0028 a0001c0002t0007g0164 a0001c0002t0020g0228 a0001c0002t0026g0014 a0001c0002t0031g0022 a0001c0002t0040g0090 a0001c0002t0041g0176 a0001c0002t0045g0198 a0001c0002t0046g0262 a0001c0002t0051g0259 a0001c0003t0002g0240 a0001c0003t0013g0192 a0001c0003t0013g0282 a0001c0003t0042g0274 a0001c0003t0052g0286 a0001c0003t0053g0285 a0001c0004t0014g0008 a0001c0005t0009g0271 a0001c0005t0012g0270 a0001c0007t0050g0186 a0001c0008t0003g0207 a0002c0010t0008g0256	171	234	0.7308	30	c.214 others(49): Show c.214-38506_214-38505insAAAATATATAAATATATTTATATATT TATA	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(23): Show ACCACTCCACTCCACTCCACTCCACTCCACT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19083.hp2 HG04184.hp1 NA19083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0052 a0001c0003t0013 a0001c0003t0052	a0001c0003t0013g0192 a0001c0003t0052g0286 a0001c0003t0013g0192 a0001c0003t0052g0286	2	168	0.0119	30	c.427 others(49): Show c.427-10629_427-10600dupCCACTCCACTCCACTCCACTCCACTC CACT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346562	A A	ATATATAT others(23): Show ATATATATATATATATATATATATACGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0053 a0001c0009t0001g0053	1	278	0.0036	30	c.276 others(49): Show c.2764+7603_2764+7604insTATACGTGTGTATATATATATATATA TATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346616	G G	GTATATAT others(23): Show GTATATATATATATATATATATACGTGTATA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0266 a0001c0001t0003g0266	1	210	0.0048	30	c.276 others(49): Show c.2764+7655_2764+7656insTATACGTGTATATATATATATATATA TATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346616	G G	GTATATAT others(23): Show GTATATATATATATATATATATATACGTGTA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0234 a0001c0002t0003g0234	1	210	0.0048	30	c.276 others(49): Show c.2764+7655_2764+7656insTATATACGTGTATATATATATATATA TATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCCT others(23): Show GTCTTCCTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02735.hp1 HG02280.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0048 a0001c0001t0007 a0001c0001t0048	a0001c0001t0007g0025 a0001c0001t0048g0232 a0001c0001t0007g0025 a0001c0001t0048g0232	2	108	0.0185	30	c.69 others(41): Show c.6961_*6962insTCTTCCTCTTCTTCTTCTTCTTCTTCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCTT others(23): Show GTCTTCTTCTTCTTCTTCTTCTTCTTCTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02148.hp2 NA18969.hp1 others(3): Show HG01106.hp1 HG02148.hp2 NA18969.hp1 NA18971.hp2 NA18998.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0025 a0001c0002t0002 a0001c0002t0005 a0001c0002t0025	a0001c0002t0002g0043 a0001c0002t0002g0067 a0001c0002t0002g0223 others(3): Show a0001c0002t0002g0043 a0001c0002t0002g0067 a0001c0002t0002g0223 a0001c0002t0005g0111 a0001c0002t0005g0132 a0001c0002t0025g0071	6	112	0.0536	30	c.69 others(41): Show c.6961_*6962insTCTTCTTCTTCTTCTTCTTCTTCTTCTTAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCTT others(23): Show GTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG02040.hp1 others(6): Show HG00639.hp1 HG01081.hp1 HG02040.hp1 HG02523.hp1 HG02738.hp2 HG02976.hp1 NA18961.hp2 NA18988.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0011 a0001c0001t0015 others(3): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004	a0001c0001t0004g0130 a0001c0001t0004g0139 a0001c0001t0011g0057 others(6): Show a0001c0001t0004g0130 a0001c0001t0004g0139 a0001c0001t0011g0057 a0001c0001t0015g0024 a0001c0002t0001g0193 a0001c0002t0001g0197 a0001c0002t0002g0218 a0001c0002t0002g0265 a0001c0002t0004g0171	9	115	0.0783	30	c.69 others(41): Show c.6961_*6962insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384590	C C	CTTCTTCT others(23): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0241 a0001c0002t0002g0241	1	283	0.0035	30	c.69 others(41): Show c.6963_*6964insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		958		chr12	TogoVar
BICD2_chr9_92706363_92769833	92757312	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0295 a0001c0001t0005g0295	1	115	0.0087	30	c.240 others(47): Show c.240+7192_240+7193insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/6			chr9	TogoVar
BICRAL_chr6_42777052_42873556	42814499	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	207	0.0048	30	c.-6+ others(45): Show c.-6+4099_-6+4100insGTGTATATATATATATATATATATATATAT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BIN1_chr2_127043032_127112154	127105467	C C	CCCTCCTC others(23): Show CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	128	0.0078	30	c.84+ others(45): Show c.84+1363_84+1392dupAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
BIN2_chr12_51276038_51329174	51320934	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18951.hp1 NA18992.hp1 others(1): Show HG01496.hp2 NA18951.hp1 NA18992.hp1 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0289 a0001c0001t0001g0311 a0001c0001t0001g0317 others(1): Show a0001c0001t0001g0289 a0001c0001t0001g0311 a0001c0001t0001g0317 a0004c0005t0001g0042	4	187	0.0214	30	c.81+ others(45): Show c.81+3087_81+3088insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12			chr12	TogoVar
BIRC2_chr11_102342214_102383670	102364172	T T	TATATATA others(23): Show TATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	305	0.0033	30	c.112 others(47): Show c.1123+459_1123+460insTATATATATATATATATATATACATACA TA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364172	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	305	0.0033	30	c.112 others(47): Show c.1123+459_1123+460insTATATATATATATATATATATATATACA TA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364174	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	233	0.0043	30	c.112 others(47): Show c.1123+459_1123+460insTATATATATATATATATATATATATATA CA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC6_chr2_32352023_32623878	32397643	C C	CACACACA others(23): Show CACACACACACATATATGTGTATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0021 a0001c0007t0002g0021	1	272	0.0037	30	c.103 others(49): Show c.1034+2067_1034+2096dupGTGTATATATATATACACACACACAT ATAT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	6/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460998	C C	CTCTCTTC others(23): Show CTCTCTTCTCTTCTCTTCTCTTCTCTTCTCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0004 a0001c0006t0001g0004	1	229	0.0044	30	c.475 others(49): Show c.4754-2157_4754-2128dupCTTCTCTTCTCTTCTCTTCTCTTCTC TTCT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461048	T T	TTCTCCTC others(23): Show TTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0042 a0002c0042	a0002c0042t0001 a0002c0042t0001	a0002c0042t0001g0107 a0002c0042t0001g0107	1	187	0.0053	30	c.475 others(49): Show c.4754-2142_4754-2141insCTCTCCTCTCCTCTCCTCTCCTCTCC TCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32578979	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01255.hp2 others(21): Show HG01069.hp2 HG01071.hp1 HG01255.hp2 HG01258.hp1 HG01346.hp2 HG01891.hp2 HG01952.hp1 HG02040.hp2 HG02056.hp2 HG02293.hp1 HG02717.hp1 HG02922.hp1 HG03239.hp2 HG03688.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA19009.hp1 NA19054.hp2 NA19066.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0021 a0002c0002 a0002c0035 a0003c0017 a0004c0019	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0021t0001 a0002c0002t0001 a0002c0035t0008 a0003c0017t0001 a0004c0019t0001	a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0195 others(21): Show a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0224 a0001c0001t0001g0244 a0001c0001t0001g0253 a0001c0001t0001g0259 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0003t0001g0097 a0001c0003t0001g0130 a0001c0003t0001g0137 a0001c0003t0001g0139 a0001c0005t0001g0103 a0001c0005t0001g0222 a0001c0005t0001g0225 a0001c0021t0001g0176 a0002c0002t0001g0164 a0002c0035t0008g0105 a0003c0017t0001g0128 a0004c0019t0001g0145	24	127	0.1890	30	c.133 others(51): Show c.13355+3624_13355+3625insTATATATATATATATATATATATA TATATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar

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