Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0095 a0002c0002t0003g0095	1	219	0.0046	25	c.-43 others(36): Show c.-4377_-4376insAAAAAAAAATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L13_chr22_17633757_17735855	17717380	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp1 HG01496.hp2 others(9): Show HG00738.hp1 HG01243.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01981.hp1 HG02280.hp1 HG03209.hp2 HG04199.hp1 NA18986.hp2 NA18989.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0009 a0001c0001t0046 others(3): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0046 a0001c0002t0006 a0001c0002t0012 a0001c0002t0025	a0001c0001t0003g0007 a0001c0001t0003g0049 a0001c0001t0003g0051 others(9): Show a0001c0001t0003g0007 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0107 a0001c0001t0009g0036 a0001c0001t0009g0037 a0001c0001t0046g0046 a0001c0002t0006g0073 a0001c0002t0006g0074 a0001c0002t0012g0301 a0001c0002t0025g0069 a0001c0002t0025g0070	12	222	0.0541	25	c.601 others(42): Show c.601-9291_601-9290insAAAAAAAAAAAAAAAAAAAAAAAAA	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L1_chr20_31659458_31727868	31697892	G G	GTTTTTTT others(18): Show GTTTTTTTTTGTTTGTTTGTTTGTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	67	0.0149	25	c.564 others(44): Show c.564+23762_564+23763insAAACAAACAAACAAACAAAAAAAAA	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31697892	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTGTTTGTTTGTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(30): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01515.hp1 HG01516.hp2 HG01934.hp1 HG01975.hp2 HG02148.hp1 HG02300.hp1 HG02602.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp2 HG06807.hp1 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(29): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0176	33	99	0.3333	25	c.564 others(44): Show c.564+23762_564+23763insAAACAAACAAACAAAAAAAAAAAAA	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31697892	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTGTTTGTTTGTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG03453.hp1 others(2): Show HG01243.hp2 HG02559.hp1 HG03453.hp1 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0053	5	71	0.0704	25	c.564 others(44): Show c.564+23762_564+23763insAACAAACAAACAAAAAAAAAAAAAA	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31697892	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp2 HG02451.hp1 others(2): Show HG01109.hp1 HG01261.hp2 HG02451.hp1 HG02630.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0148 a0001c0001t0001g0152 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153	5	71	0.0704	25	c.564 others(44): Show c.564+23762_564+23763insAAAAAAAAAAAAAAAAAAAAAAAAA	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2_chr18_63118346_63324769	63169367	T T	TTCTTTCT others(18): Show TTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0166 a0001c0001t0007g0166	1	202	0.0050	25	c.586 others(44): Show c.586-40609_586-40608insGAAGAAAGAAAGAAAGAAAGAAAGA	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL7B_chr7_73531356_73562690	73549565	T T	TGTTCGGG others(18): Show TGTTCGGGGGAGCCTAAAAGCCCCAC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	282	0.0035	25	c.168 others(42): Show c.168+2601_168+2602insGTGGGGCTTTTAGGCTCCCCCGAAC	BCL7B	ENSG00000106635.8	transcript	ENST00000223368.7	protein_coding	2/5			chr7	TogoVar
BCO1_chr16_81233689_81296142	81249112	A A	ATGGAGTC others(18): Show ATGGAGTCTCACTCCGTTACCCAGGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0391 a0001c0007t0001g0391	1	400	0.0025	25	c.193 others(42): Show c.193+3516_193+3540dupCTCACTCCGTTACCCAGGTTGGAGT	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
BCO2_chr11_112170512_112223946	112192925	G G	GTTTTTTT others(18): Show GTTTTTTTTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	15	0.0667	25	c.294 others(40): Show c.294-540_294-539insGTTTTTTTTTTTTTTTTTTTTTTTT	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(18): Show TCCTTCCCTTCCCTTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03486.hp2 HG02451.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0189 a0001c0001t0002g0188 a0001c0001t0001g0189 a0001c0001t0002g0188	2	151	0.0132	25	c.736 others(42): Show c.736+2186_736+2210dupCCTTCCCTTCCCTTCCCTTCCCTTC	BCO2	ENSG00000197580.13	transcript	ENST00000357685.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
BCORL1_chrX_129977635_130063071	130021826	C C	CAGGCTAG others(18): Show CAGGCTAGAGGGAGTTCAGTGGCACA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0039 a0001c0001t0011g0039	1	201	0.0050	25	c.360 others(42): Show c.3607+678_3607+702dupGGCTAGAGGGAGTTCAGTGGCACAA	BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chrX	TogoVar
BCORL1_chrX_129977635_130063071	130043785	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	146	0.0068	25	c.484 others(44): Show c.4840+4503_4840+4504insATATATATATATATATATATATATA	BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	11/13			chrX	TogoVar
BDH1_chr3_197504783_197560968	197510599	G G	GTGTGTGT others(18): Show GTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0262 a0001c0002t0011g0262	1	181	0.0055	25	c.12 others(36): Show c.1295_*1296insACACACACACACACACACACACACA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1295		chr3	TogoVar
BFSP2_chr3_133395056_133480208	133426014	G G	GAAGGAAA others(18): Show GAAGGAAAGGGAAAGAAAGGGAAGGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01884.hp1 HG02109.hp1 others(18): Show HG01123.hp2 HG01884.hp1 HG02109.hp1 HG02145.hp1 HG02572.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03579.hp1 NA18906.hp2 NA19030.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0009 a0001c0001 a0001c0002 a0006c0009	a0001c0001t0001 a0001c0002t0001 a0006c0009t0001 a0001c0001t0001 a0001c0002t0001 a0006c0009t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(18): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0133 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0269 a0001c0002t0001g0031 a0006c0009t0001g0170	21	51	0.4118	25	c.490 others(44): Show c.490-21299_490-21298insAAAGGGAAAGAAAGGGAAGGAAAGG	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BICD1_chr12_32101847_32388633	32118060	A A	ATATTTTA others(18): Show ATATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01109.hp1 others(10): Show HG00741.hp1 HG01069.hp2 HG01109.hp1 HG01891.hp1 HG01952.hp2 HG02257.hp1 HG02922.hp1 HG03471.hp1 HG03492.hp2 HG06807.hp1 NA18906.hp2 NA19002.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0039 a0001c0002t0002 a0001c0003t0013	a0001c0001t0001g0174 a0001c0001t0001g0280 a0001c0001t0001g0281 others(10): Show a0001c0001t0001g0174 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0003g0217 a0001c0001t0003g0222 a0001c0001t0004g0149 a0001c0001t0019g0184 a0001c0001t0022g0100 a0001c0001t0023g0097 a0001c0001t0023g0098 a0001c0001t0039g0099 a0001c0002t0002g0088 a0001c0003t0013g0282	13	137	0.0949	25	c.213 others(44): Show c.213+10522_213+10546dupTATTTTATTTTATTTTATTTTATTT	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(18): Show CCTATCTATCTATCCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00438.hp1 others(47): Show HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00597.hp2 HG00741.hp1 HG00741.hp2 HG01109.hp1 HG01167.hp1 HG01175.hp2 HG01243.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02300.hp2 HG02683.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG03927.hp2 HG04204.hp1 NA18612.hp2 NA18906.hp1 NA18959.hp1 NA18982.hp1 NA18988.hp1 NA18998.hp1 NA19002.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19064.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0030 a0001c0001t0032 a0001c0001t0047 a0001c0001t0055 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0031 a0001c0003t0002 a0001c0004t0014 a0001c0008t0003	a0001c0001t0001g0174 a0001c0001t0001g0194 a0001c0001t0002g0205 others(47): Show a0001c0001t0001g0174 a0001c0001t0001g0194 a0001c0001t0002g0205 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0204 a0001c0001t0003g0217 a0001c0001t0003g0219 a0001c0001t0003g0222 a0001c0001t0003g0273 a0001c0001t0004g0019 a0001c0001t0006g0021 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0007g0026 a0001c0001t0010g0015 a0001c0001t0010g0018 a0001c0001t0010g0125 a0001c0001t0012g0233 a0001c0001t0012g0258 a0001c0001t0014g0029 a0001c0001t0014g0031 a0001c0001t0015g0020 a0001c0001t0018g0261 a0001c0001t0019g0173 a0001c0001t0030g0030 a0001c0001t0032g0033 a0001c0001t0047g0247 a0001c0001t0055g0039 a0001c0002t0001g0175 a0001c0002t0001g0178 a0001c0002t0001g0193 a0001c0002t0001g0197 a0001c0002t0001g0212 a0001c0002t0001g0216 a0001c0002t0001g0260 a0001c0002t0002g0088 a0001c0002t0002g0172 a0001c0002t0002g0188 a0001c0002t0002g0208 a0001c0002t0003g0234 a0001c0002t0004g0016 a0001c0002t0004g0171 a0001c0002t0005g0011 a0001c0002t0007g0023 a0001c0002t0007g0028 a0001c0002t0031g0022 a0001c0003t0002g0240 a0001c0004t0014g0008 a0001c0008t0003g0207	50	180	0.2778	25	c.213 others(44): Show c.213+34922_213+34923insCTATCTATCTATCTATCTATCTATC	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32142456	A A	ATCTATCT others(18): Show ATCTATCTATCCTATCTATCTATCTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0244 a0001c0001t0060g0244	1	288	0.0035	25	c.213 others(44): Show c.213+34922_213+34923insCTATCTATCTATCTGTCTATCTATC	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(18): Show ACCACTCCACTCCACTCCACTCCACT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01261.hp2 HG01346.hp1 others(2): Show HG00642.hp1 HG01261.hp2 HG01346.hp1 HG03710.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0001t0024 a0001c0003t0013 others(2): Show a0001c0001t0008 a0001c0001t0024 a0001c0003t0013 a0001c0003t0033 a0001c0003t0042	a0001c0001t0008g0124 a0001c0001t0024g0209 a0001c0003t0013g0062 others(2): Show a0001c0001t0008g0124 a0001c0001t0024g0209 a0001c0003t0013g0062 a0001c0003t0033g0137 a0001c0003t0042g0274	5	171	0.0292	25	c.427 others(44): Show c.427-10624_427-10600dupCCACTCCACTCCACTCCACTCCACT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32384640	T T	TCTTCTTC others(18): Show TCTTCTTCTTCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG02451.hp2 HG03195.hp1 HG00408.hp1 HG02451.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0001t0009 a0001c0005t0009 a0001c0001t0006 a0001c0001t0009 a0001c0005t0009	a0001c0001t0006g0159 a0001c0001t0009g0073 a0001c0005t0009g0271 a0001c0001t0006g0159 a0001c0001t0009g0073 a0001c0005t0009g0271	3	223	0.0135	25	c.70 others(36): Show c.7013_*7014insCTTCTTCTTCTTCTTCTTCTTCTTC	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		1008		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384717	C C	CTTCTTCC others(18): Show CTTCTTCCTTCTTCCTTCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0033 a0001c0003t0033	a0001c0003t0033g0137 a0001c0003t0033g0137	1	218	0.0046	25	c.70 others(36): Show c.7090_*7091insTTCTTCCTTCTTCCTTCTTCCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		1085		chr12	TogoVar
BICD2_chr9_92706363_92769833	92757312	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0292 a0001c0001t0005g0292	1	115	0.0087	25	c.240 others(42): Show c.240+7168_240+7192dupTTTTTTTTTTTTTTTTTTTTTTTTT	BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/6			chr9	TogoVar
BICDL1_chr12_119984236_120099494	120033367	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0281 a0001c0001t0003g0281	1	109	0.0092	25	c.646 others(44): Show c.646-28322_646-28321insTTTTTTTTTTTTTTTTTTTTTTTTT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICRAL_chr6_42777052_42873556	42814520	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	245	0.0041	25	c.-6+ others(40): Show c.-6+4119_-6+4120insATATATATATATATATATATATATA	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	2/12			chr6	TogoVar
BID_chr22_17729138_17779469	17776463	T T	TTACTGTA others(18): Show TTACTGTATGTAAAATTATACCTTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	360	0.0028	25	c.-21 others(36): Show c.-2142_-2141insTTAAGGTATAATTTTACATACAGTA	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding		1995		chr22	TogoVar
BIK_chr22_43105750_43134712	43110671	G G	GGGGAGGG others(18): Show GGGGAGGGGCGGGACCCGGGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	384	0.0026	25	c.-14 others(34): Show c.-140_-139insGGGAGGGGCGGGACCCGGGCGGGGC	BIK	ENSG00000100290.3	transcript	ENST00000216115.3	protein_coding		78		chr22	TogoVar
BIN2_chr12_51276038_51329174	51320934	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0335 a0003c0003t0001g0335	1	184	0.0054	25	c.81+ others(40): Show c.81+3087_81+3088insGTGTGTGTGTGTGTGTGTGTGTGTG	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12			chr12	TogoVar
BIRC5_chr17_78209253_78230635	78210252	A A	ACATCCTG others(18): Show ACATCCTGTTGAGCCTGGAGGACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	430	0.0023	25	c.-40 others(36): Show c.-4065_-4064insCATCCTGTTGAGCCTGGAGGACAGG	BIRC5	ENSG00000089685.15	transcript	ENST00000350051.8	protein_coding		4000		chr17	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0133 a0001c0003t0001g0133	1	74	0.0135	25	c.475 others(44): Show c.4754-2921_4754-2920insATATATATATATATATATATTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461068	T T	TTCTCTTC others(18): Show TTCTCTTCTCTTCTGTTCTCCTCTCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0112 a0002c0004t0001g0112	1	89	0.0112	25	c.475 others(44): Show c.4754-2122_4754-2121insTTCTCTTCTGTTCTCCTCTCCTCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461068	T T	TTCTCTTC others(18): Show TTCTCTTCTGTTCTCCTCTCCTCTCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01358.hp2 HG01934.hp1 others(1): Show HG01167.hp2 HG01358.hp2 HG01934.hp1 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0022 a0002c0002 a0002c0004 a0002c0022	a0002c0002t0001 a0002c0004t0001 a0002c0022t0001 a0002c0002t0001 a0002c0004t0001 a0002c0022t0001	a0002c0002t0001g0048 a0002c0002t0001g0094 a0002c0004t0001g0168 others(1): Show a0002c0002t0001g0048 a0002c0002t0001g0094 a0002c0004t0001g0168 a0002c0022t0001g0056	4	92	0.0435	25	c.475 others(44): Show c.4754-2122_4754-2121insTTCTGTTCTCCTCTCCTCTCCTCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461126	T T	TCCTCTCC others(18): Show TCCTCTCCTCTCCTCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0171 a0002c0004t0001g0171	1	174	0.0057	25	c.475 others(44): Show c.4754-2064_4754-2063insTCCTCTCCTCTCCTCCCCTCCCCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461185	T T	TCCCCTCC others(18): Show TCCCCTCCCCTCTCCCCTCCCCCTCC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	164	0.0061	25	c.475 others(44): Show c.4754-1999_4754-1998insCTCCCCTCCCCCTCCCCCCTCCCCT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32611108	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0005 a0005	a0005c0020 a0005c0020	a0005c0020t0001 a0005c0020t0001	a0005c0020t0001g0012 a0005c0020t0001g0012	1	265	0.0038	25	c.142 others(44): Show c.14260-329_14260-328insTTTTTTTTTTTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	72/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BLID_chr11_122110340_122121215	122112071	C C	CAAACAAA others(18): Show CAAACAAAACAAAACAAAACAAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(139): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01975.hp2 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02896.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03579.hp1 HG03654.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19075.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19089.hp2 NA19090.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	142	180	0.7889	25	c.35 others(36): Show c.3524_*3525insTGTTTTGTTTTGTTTTGTTTTGTTT	BLID	ENSG00000259571.2	transcript	ENST00000560104.2	protein_coding		3268		chr11	TogoVar
BLK_chr8_11489387_11569599	11504367	G G	GAAAGAAA others(18): Show GAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0017 a0001c0012t0017	a0001c0012t0017g0295 a0001c0012t0017g0295	1	107	0.0093	25	c.-2+ others(40): Show c.-2+9800_-2+9824dupGAAAAGAAAAGAAAAGAAAAGAAAA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLOC1S2_chr10_100268293_100291680	100276445	G G	GTCTCCCT others(18): Show GTCTCCCTCTCCCTCTCCCGTCTCCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19010.hp1 HG01243.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0097 a0001c0001t0001g0060 a0001c0001t0001g0097	2	130	0.0154	25	c.398 others(40): Show c.398-977_398-953dupGGGAGACGGGAGAGGGAGAGGGAGA	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BLTP1_chr4_122147331_122367752	122267051	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0292 a0001c0003t0001g0292	1	72	0.0139	25	c.749 others(41): Show c.7493+94_7493+118dupTTTTTTTTTTTTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	46/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122321979	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19084.hp1 NA18984.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0190 a0002c0004t0001g0130 a0001c0001t0001g0190 a0002c0004t0001g0130	2	12	0.1667	25	c.109 others(46): Show c.10996-2436_10996-2412dupTTTTTTTTTTTTTTTTTTTTTTTT T	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	64/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0041 a0001c0004t0001g0041	1	102	0.0098	25	c.44+ others(40): Show c.44+1862_44+1863insATATATATATATATATATTTTTTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BMAL2_chr12_27327836_27430286	27360803	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03491.hp1 HG03492.hp1 others(2): Show HG02486.hp2 HG03491.hp1 HG03492.hp1 NA18964.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0005	a0001c0001t0001g0104 a0001c0001t0001g0105 a0002c0002t0005g0006 others(1): Show a0001c0001t0001g0104 a0001c0001t0001g0105 a0002c0002t0005g0006 a0002c0002t0005g0124	5	21	0.2381	25	c.32- others(40): Show c.32-7437_32-7436insAAAAAAAAAAAAAAAAAAAAAAAAA	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMERB1_chr16_15429588_15593259	15444123	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01943.hp1 HG02886.hp2 others(1): Show HG01255.hp1 HG01943.hp1 HG02886.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0266 others(1): Show a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0266 a0001c0001t0004g0222	4	18	0.2222	25	c.106 others(42): Show c.106+9367_106+9391dupTTTTTTTTTTTTTTTTTTTTTTTTT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15591931	T T	TTATATCT others(18): Show TTATATCTATACATAATATATAGATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG02451.hp2 others(7): Show HG01109.hp1 HG01891.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02723.hp1 HG02970.hp2 HG03453.hp2 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0101 a0001c0001t0006g0102 others(7): Show a0001c0001t0006g0004 a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0006g0160 a0001c0001t0006g0161 a0001c0001t0006g0166 a0001c0001t0006g0168 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0171	10	290	0.0345	25	c.51 others(36): Show c.5102_*5103insTATATCTATACATAATATATAGATA	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding		3673		chr16	TogoVar
BMERB1_chr16_15429588_15593259	15591942	C C	CATAATAT others(18): Show CATAATATATAGATATATATCTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00609.hp2 others(51): Show HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01884.hp2 HG01934.hp2 HG01975.hp1 HG01993.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02523.hp2 HG02602.hp1 HG02735.hp2 HG02886.hp1 HG03017.hp1 HG03491.hp1 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp2 NA18948.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp2 NA19000.hp1 NA19004.hp2 NA19007.hp2 NA19065.hp2 NA19066.hp1 NA19072.hp1 NA19087.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0002t0016 a0001c0002t0019	a0001c0001t0001g0054 a0001c0001t0001g0093 a0001c0001t0001g0096 others(51): Show a0001c0001t0001g0054 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0180 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0011g0006 a0001c0001t0011g0049 a0001c0001t0011g0193 a0001c0002t0001g0012 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0045 a0001c0002t0001g0087 a0001c0002t0001g0095 a0001c0002t0001g0121 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0149 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0216 a0001c0002t0001g0225 a0001c0002t0001g0234 a0001c0002t0001g0239 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0267 a0001c0002t0003g0022 a0001c0002t0003g0036 a0001c0002t0003g0151 a0001c0002t0003g0153 a0001c0002t0011g0078 a0001c0002t0016g0164 a0001c0002t0019g0155	54	277	0.1949	25	c.51 others(36): Show c.5113_*5114insATAATATATAGATATATATCTATAT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding		3684		chr16	TogoVar
BMERB1_chr16_15429588_15593259	15591945	A A	AATATATA others(18): Show AATATATAGATATATATCTATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG02970.hp1 HG01993.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0128 a0001c0001t0020g0141 a0001c0001t0001g0128 a0001c0001t0020g0141	2	230	0.0087	25	c.51 others(36): Show c.5116_*5117insATATATAGATATATATCTATATATT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding		3687		chr16	TogoVar
BMERB1_chr16_15429588_15593259	15591970	A A	AATATATA others(18): Show AATATATAGATATATATCTATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01928.hp1 HG01928.hp2 others(11): Show HG01123.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG02004.hp1 HG02155.hp2 HG02273.hp1 HG02698.hp2 HG03239.hp1 HG03831.hp1 HG03831.hp2 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003	a0001c0001t0002g0075 a0001c0002t0001g0013 a0001c0002t0001g0051 others(11): Show a0001c0001t0002g0075 a0001c0002t0001g0013 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0058 a0001c0002t0001g0079 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0001g0126 a0001c0002t0001g0156 a0001c0002t0001g0181 a0001c0002t0003g0041 a0001c0002t0003g0081	14	289	0.0484	25	c.51 others(36): Show c.5141_*5142insATATATAGATATATATCTATATATT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding		3712		chr16	TogoVar
BMERB1_chr16_15429588_15593259	15591978	G G	GATATATA others(18): Show GATATATATCTATATATTATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG02015.hp2 others(15): Show HG00558.hp1 HG00609.hp1 HG02015.hp2 HG02056.hp2 HG02155.hp1 HG02258.hp2 HG02615.hp1 HG02647.hp1 HG03098.hp1 NA18522.hp1 NA18981.hp2 NA18998.hp1 NA19000.hp2 NA19009.hp2 NA19043.hp2 NA19066.hp2 NA19070.hp1 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 a0001c0001t0001 a0001c0001t0003 a0002c0003t0001	a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0039 others(15): Show a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0240 a0001c0001t0001g0279 a0001c0001t0003g0129 a0002c0003t0001g0070	18	216	0.0833	25	c.51 others(36): Show c.5149_*5150insATATATATCTATATATTATAGATAT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding		3720		chr16	TogoVar
BMP2K_chr4_78771350_78921365	78829772	T T	TTTCTCTT others(18): Show TTTCTCTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0023 a0001c0024t0023	a0001c0024t0023g0146 a0001c0024t0023g0146	1	200	0.0050	25	c.297 others(42): Show c.297+3621_297+3622insCTTCTCTTCTCTTCTCTTCTCTTCT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78829787	T T	TTTCTCTT others(18): Show TTTCTCTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	115	0.0087	25	c.297 others(42): Show c.297+3672_297+3696dupCTTCTCTTCTCTTCTCTTCTCTTCT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78829787	T T	TTTCTTTT others(18): Show TTTCTTTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0008 a0003c0005t0008	a0003c0005t0008g0132 a0003c0005t0008g0132	1	115	0.0087	25	c.297 others(42): Show c.297+3636_297+3637insTTTCTCTTCTCTTCTCTTCTCTTCT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar

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