Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

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
B3GNT4_chr12_122198709_122213952	122200593	A A	AGGGGGAG others(14): Show AGGGGGAGAAAGACAAGAAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01255.hp2 NA20752.hp1 HG01175.hp1 HG01255.hp2 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0001 a0002c0002t0005g0001	3	410	0.0073	21	c.-33 others(32): Show c.-3306_-3305insGGGGGAGAAAGACAAGAAAGG	B3GNT4	ENSG00000176383.9	transcript	ENST00000324189.5	protein_coding		3115		chr12	TogoVar
B3GNT5_chr3_183248253_183278385	183269230	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02976.hp1 HG03831.hp2 others(3): Show HG01361.hp1 HG02976.hp1 HG03831.hp2 NA18943.hp1 NA18952.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0193 a0001c0001t0001g0199 others(3): Show a0001c0001t0001g0151 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0211	6	190	0.0316	21	c.-30 others(38): Show c.-301-250_-301-249insTTTTTTTTTTTTTTTTTTTTT	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GNT6_chr11_77029398_77046973	77038081	A A	AATGAGGG others(14): Show AATGAGGGGGAGGGGGCAAGGG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0043 a0001c0002t0003g0043	1	440	0.0023	21	c.1-1 others(34): Show c.1-1471_1-1470insATGAGGGGGAGGGGGCAAGGG	B3GNT6	ENSG00000198488.10	transcript	ENST00000622824.1	protein_coding	1/1			chr11	TogoVar
B4GALNT3_chr12_454939_568509	511300	A A	ACCTTCCA others(14): Show ACCTTCCACCTTCCGCCTTCTG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0385 a0001c0002t0006g0385	1	392	0.0026	21	c.170 others(40): Show c.170-23852_170-23832dupGCCTTCTGCCTTCCACCTTCC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BAALC_chr8_103135725_103235305	103230990	A A	ATGGCCCA others(14): Show ATGGCCCACTTTCACAGTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG01358.hp2 others(5): Show HG00741.hp1 HG01109.hp1 HG01358.hp2 HG03139.hp1 HG03195.hp2 HG03540.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0008 a0001c0001t0013	a0001c0001t0008g0081 a0001c0001t0008g0155 a0001c0001t0008g0238 others(5): Show a0001c0001t0008g0081 a0001c0001t0008g0155 a0001c0001t0008g0238 a0001c0001t0008g0260 a0001c0001t0008g0275 a0001c0001t0008g0279 a0001c0001t0013g0276 a0001c0001t0013g0278	8	330	0.0242	21	c.28 others(32): Show c.2891_*2892insTGGCCCACTTTCACAGTGCTT	BAALC	ENSG00000164929.17	transcript	ENST00000309982.10	protein_coding		686		chr8	TogoVar
BABAM2_chr2_27885729_28343901	28176569	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03225.hp2 HG01192.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0041 a0001c0001t0002g0095 a0001c0001t0001g0041 a0001c0001t0002g0095	2	6	0.3333	21	c.680 others(40): Show c.680+47196_680+47216dupAAAAAAAAAAAAAAAAAAAAA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BACH2_chr6_89921528_90301843	90065270	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02922.hp2 HG01081.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0004t0034 a0001c0001t0007 a0001c0004t0034	a0001c0001t0007g0165 a0001c0004t0034g0009 a0001c0001t0007g0165 a0001c0004t0034g0009	2	9	0.2222	21	c.-13 others(40): Show c.-13+23670_-13+23690dupAAAAAAAAAAAAAAAAAAAAA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	5/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0176 a0001c0002t0027g0176	1	100	0.0100	21	c.-16 others(40): Show c.-161-3183_-161-3182insATATATATTTTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03669.hp2 HG03017.hp1 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0125 a0001c0003t0008 a0001c0002t0125 a0001c0003t0008	a0001c0002t0125g0177 a0001c0003t0008g0106 a0001c0002t0125g0177 a0001c0003t0008g0106	2	101	0.0198	21	c.-16 others(40): Show c.-161-3183_-161-3182insATATATATATTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01975.hp1 others(3): Show HG01069.hp1 HG01071.hp2 HG01975.hp1 HG02040.hp1 NA18946.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0005t0001 a0001c0005t0010	a0001c0001t0001g0141 a0001c0001t0008g0061 a0001c0001t0014g0179 others(3): Show a0001c0001t0001g0141 a0001c0001t0008g0061 a0001c0001t0014g0179 a0001c0001t0014g0180 a0001c0005t0001g0100 a0001c0005t0010g0113	6	105	0.0571	21	c.-16 others(40): Show c.-161-3183_-161-3182insATATATATATATTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG06807.hp2 HG03017.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0086 a0001c0003t0008 a0001c0001t0086 a0001c0003t0008	a0001c0001t0086g0024 a0001c0003t0008g0106 a0001c0001t0086g0024 a0001c0003t0008g0106	2	54	0.0370	21	c.-16 others(42): Show c.-161-13921_-161-13920insAAAAAAATATATATATATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	53	0.0189	21	c.-16 others(42): Show c.-161-13921_-161-13920insAAAAAAAAATATATATATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0073 a0001c0005t0073	a0001c0005t0073g0077 a0001c0005t0073g0077	1	53	0.0189	21	c.-16 others(42): Show c.-161-13921_-161-13920insAAAAAAAAAAAAAAATATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BAG2_chr6_57167326_57194833	57191398	T T	TTTGAATT others(14): Show TTTGAATTACAATGTCTGCATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0012 a0001c0001t0026g0012	1	242	0.0041	21	c.72 others(32): Show c.7208_*7209insTTGAATTACAATGTCTGCATC	BAG2	ENSG00000112208.11	transcript	ENST00000370693.5	protein_coding		1566		chr6	TogoVar
BAG3_chr10_119646380_119682819	119651271	A A	AGGGGGAG others(14): Show AGGGGGAGGGGCGGGAGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18988.hp1 NA19077.hp2 NA18963.hp1 NA18988.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0002t0001g0090 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0002t0001g0090	3	418	0.0072	21	c.-40 others(30): Show c.-405_-404insGGGGGAGGGGCGGGAGGAGGT	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding		108		chr10	TogoVar
BAG3_chr10_119646380_119682819	119665092	T T	TTTGTGTG others(14): Show TTTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0249 a0001c0001t0004g0249	1	218	0.0046	21	c.181 others(38): Show c.181-4758_181-4757insTGTGTGTGTGTGTGTGTGTGT	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG3_chr10_119646380_119682819	119666547	T T	TGTGCTCA others(14): Show TGTGCTCAGCGAGATGCATGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(250): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0010 a0011 a0013 a0014	a0001c0001 a0001c0007 a0001c0009 others(10): Show a0001c0001 a0001c0007 a0001c0009 a0001c0016 a0002c0003 a0002c0013 a0002c0019 a0003c0004 a0005c0006 a0010c0010 a0011c0020 a0013c0015 a0014c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0007t0006 a0001c0009t0004 a0001c0016t0001 a0002c0003t0002 a0002c0003t0006 a0002c0003t0007 a0002c0003t0008 a0002c0003t0012 a0002c0013t0002 a0002c0019t0006 a0003c0004t0003 a0003c0004t0005 a0003c0004t0008 a0005c0006t0004 a0005c0006t0009 a0010c0010t0006 a0011c0020t0004 a0013c0015t0002 a0014c0012t0004	a0001c0001t0001g0038 a0001c0001t0001g0204 a0001c0001t0001g0205 others(202): Show a0001c0001t0001g0038 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0003g0013 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0052 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0214 a0001c0001t0003g0225 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0291 a0001c0001t0004g0014 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0042 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0151 a0001c0001t0004g0154 a0001c0001t0004g0208 a0001c0001t0004g0229 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0276 a0001c0001t0004g0286 a0001c0001t0005g0030 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0005g0054 a0001c0001t0005g0107 a0001c0001t0005g0112 a0001c0001t0005g0114 a0001c0001t0005g0145 a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0005g0264 a0001c0001t0005g0265 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0303 a0001c0001t0006g0299 a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0010g0277 a0001c0007t0006g0209 a0001c0007t0006g0308 a0001c0009t0004g0215 a0001c0016t0001g0137 a0002c0003t0002g0002 a0002c0003t0002g0010 a0002c0003t0002g0011 a0002c0003t0002g0020 a0002c0003t0002g0021 a0002c0003t0002g0028 a0002c0003t0002g0039 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0050 a0002c0003t0002g0055 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0060 a0002c0003t0002g0061 a0002c0003t0002g0062 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0068 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0002g0071 a0002c0003t0002g0072 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0082 a0002c0003t0002g0083 a0002c0003t0002g0087 a0002c0003t0002g0088 a0002c0003t0002g0135 a0002c0003t0002g0136 a0002c0003t0002g0138 a0002c0003t0002g0139 a0002c0003t0002g0140 a0002c0003t0002g0143 a0002c0003t0002g0201 a0002c0003t0002g0213 a0002c0003t0002g0217 a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0274 a0002c0003t0002g0275 a0002c0003t0002g0284 a0002c0003t0006g0216 a0002c0003t0007g0063 a0002c0003t0007g0134 a0002c0003t0007g0144 a0002c0003t0008g0141 a0002c0003t0012g0028 a0002c0013t0002g0200 a0002c0019t0006g0084 a0003c0004t0003g0003 a0003c0004t0003g0008 a0003c0004t0003g0104 a0003c0004t0005g0003 a0003c0004t0005g0008 a0003c0004t0005g0024 a0003c0004t0005g0041 a0003c0004t0005g0053 a0003c0004t0005g0103 a0003c0004t0005g0105 a0003c0004t0005g0106 a0003c0004t0005g0108 a0003c0004t0005g0109 a0003c0004t0005g0110 a0003c0004t0005g0111 a0003c0004t0005g0113 a0003c0004t0005g0150 a0003c0004t0005g0233 a0003c0004t0005g0234 a0003c0004t0008g0025 a0005c0006t0004g0124 a0005c0006t0009g0022 a0010c0010t0006g0285 a0011c0020t0004g0123 a0013c0015t0002g0002 a0014c0012t0004g0119	253	417	0.6067	21	c.181 others(38): Show c.181-3287_181-3286insTGAGGTGCTCAGCGAGATGCA	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG3_chr10_119646380_119682819	119666578	G G	GAGATGCA others(14): Show GAGATGCACGAGGTGCTCAGCA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0006 a0012c0011t0006	a0012c0011t0006g0302 a0012c0011t0006g0302	1	311	0.0032	21	c.181 others(38): Show c.181-3253_181-3252insAAGATGCACGAGGTGCTCAGC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0255 a0001c0002t0001g0255	1	158	0.0063	21	c.128 others(38): Show c.128-1893_128-1892insATATATATATATTTTTTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0288 a0001c0002t0001g0288	1	158	0.0063	21	c.128 others(38): Show c.128-1893_128-1892insATATATATATATATTTTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03710.hp2 HG01891.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0007t0003 a0001c0001t0004 a0001c0007t0003	a0001c0001t0004g0171 a0001c0007t0003g0088 a0001c0001t0004g0171 a0001c0007t0003g0088	2	159	0.0126	21	c.128 others(38): Show c.128-1893_128-1892insATATATATATATATATTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98395992	C C	CAAGGGAA others(14): Show CAAGGGAAACCTAATGTGCATG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0093 a0001c0004t0014g0093	1	296	0.0034	21	c.51+ others(36): Show c.51+4789_51+4809dupCATGCACATTAGGTTTCCCTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81045520	C C	CGGGAGGC others(14): Show CGGGAGGCCACCTGCTCCTGGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	374	0.0027	21	c.55- others(36): Show c.55-8147_55-8127dupGGGAGGCCACCTGCTCCTGGT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81055569	G G	GGTTTTTT others(14): Show GGTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	257	0.0039	21	c.130 others(38): Show c.130+1826_130+1827insGTTTTTTTTTTTTTTTTTTTT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13			chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81055570	T T	TTTTTTTT others(14): Show TTTTTTTTTTTGTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG06807.hp2 HG02145.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0019 a0001c0001t0001g0020	2	372	0.0054	21	c.130 others(38): Show c.130+1830_130+1831insTTTTTTTGTTTTTTTTTGTTT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81055574	G G	GTTTTTTG others(14): Show GTTTTTTGTTTTTTTTTGGTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19000.hp1 HG01243.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0274 a0001c0001t0003g0373 a0001c0001t0001g0274 a0001c0001t0003g0373	2	28	0.0714	21	c.130 others(38): Show c.130+1837_130+1838insGTTTTTTTTTGGTTTTTTTTT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81055574	G G	GTTTTTTG others(14): Show GTTTTTTGTTTTTTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00642.hp1 others(101): Show HG00280.hp1 HG00280.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18959.hp1 NA18963.hp1 NA18966.hp1 NA18969.hp2 NA18975.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19002.hp1 NA19012.hp1 NA19030.hp2 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19079.hp2 NA19082.hp1 NA19087.hp1 NA19087.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0011 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0024 a0001c0001t0028 a0001c0001t0030 a0001c0001t0036 a0001c0001t0042 a0001c0001t0046 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0016 a0001c0003t0027 a0001c0003t0029 a0001c0003t0041 a0001c0007t0001 a0001c0009t0003 a0001c0011t0049 a0002c0002t0002 a0002c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0030 others(99): Show a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0173 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0304 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0324 a0001c0001t0001g0328 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0363 a0001c0001t0003g0021 a0001c0001t0003g0043 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0325 a0001c0001t0004g0002 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0039 a0001c0001t0004g0118 a0001c0001t0004g0284 a0001c0001t0004g0311 a0001c0001t0004g0330 a0001c0001t0008g0080 a0001c0001t0013g0268 a0001c0001t0013g0269 a0001c0001t0015g0221 a0001c0001t0018g0010 a0001c0001t0024g0220 a0001c0001t0028g0027 a0001c0001t0030g0302 a0001c0001t0036g0289 a0001c0001t0042g0365 a0001c0001t0046g0022 a0001c0003t0001g0142 a0001c0003t0001g0215 a0001c0003t0001g0230 a0001c0003t0001g0237 a0001c0003t0001g0241 a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0003t0001g0249 a0001c0003t0001g0250 a0001c0003t0003g0233 a0001c0003t0003g0240 a0001c0003t0003g0252 a0001c0003t0003g0349 a0001c0003t0004g0143 a0001c0003t0004g0248 a0001c0003t0004g0258 a0001c0003t0004g0262 a0001c0003t0004g0264 a0001c0003t0004g0266 a0001c0003t0004g0320 a0001c0003t0005g0211 a0001c0003t0005g0257 a0001c0003t0016g0231 a0001c0003t0027g0259 a0001c0003t0029g0260 a0001c0003t0041g0148 a0001c0007t0001g0037 a0001c0007t0001g0038 a0001c0009t0003g0236 a0001c0009t0003g0261 a0001c0011t0049g0023 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0099 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0315 a0002c0005t0002g0267 a0002c0005t0002g0322 a0002c0005t0002g0323	104	130	0.8000	21	c.130 others(38): Show c.130+1837_130+1838insGTTTTTTTTTGTTTTTTTTTT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81055574	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0251 a0001c0003t0001g0251	1	27	0.0370	21	c.130 others(38): Show c.130+1840_130+1841insTTTTTTTGTTTTTTTTTTTTT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81119217	C C	CTGGGGCC others(14): Show CTGGGGCCGGGAAGGAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	310	0.0032	21	c.33 others(32): Show c.3378_*3379insTGGGGCCGGGAAGGAGCGGGG	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding		1784		chr17	TogoVar
BAMBI_chr10_28672521_28687932	28683987	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	132	0.0076	21	c.15 others(32): Show c.1586_*1587insAAAAAAAAAAAAAAAAAAAAA	BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding		1056		chr10	TogoVar
BARD1_chr2_214720646_214814683	214751151	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0008 a0004c0007t0008	a0004c0007t0008g0039 a0004c0007t0008g0039	1	39	0.0256	21	c.167 others(40): Show c.1677+1295_1677+1296insAAAAAAAAATATATATATATA	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	7/10			chr2	TogoVar
BARD1_chr2_214720646_214814683	214751151	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0036 a0004c0007t0036	a0004c0007t0036g0044 a0004c0007t0036g0044	1	39	0.0256	21	c.167 others(40): Show c.1677+1295_1677+1296insAAAAAAAAAAAAATATATATA	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	7/10			chr2	TogoVar
BARHL2_chr1_90706539_90722302	90719504	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG02451.hp1 HG02896.hp1 others(1): Show HG01258.hp1 HG02451.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0020 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0001g0020 a0001c0001t0002g0013 a0001c0001t0002g0017	4	18	0.2222	21	c.-23 others(32): Show c.-2310_-2309insTTTTTTTTTTTTTTTTTTTTT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2203		chr1	TogoVar
BASP1_chr5_17212631_17281834	17212996	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0237 a0001c0001t0052g0237	1	104	0.0096	21	c.-48 others(32): Show c.-4824_-4823insAAAAAAAAAAAAAAAAAAAAA	BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding		4634		chr5	TogoVar
BATF3_chr1_212681417_212704840	212681420	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG00673.hp2 others(20): Show HG00423.hp1 HG00673.hp1 HG00673.hp2 HG01074.hp2 HG01255.hp2 HG02300.hp1 HG02735.hp2 NA18940.hp2 NA18941.hp2 NA18952.hp1 NA18956.hp2 NA18957.hp2 NA18979.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp2 NA19009.hp2 NA19054.hp1 NA19054.hp2 NA19066.hp1 NA19080.hp2 NA19090.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0144	23	94	0.2447	21	c.53 others(32): Show c.5370_*5371insAAAAAAAAAAAAAAAAAAAAA	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding		4996		chr1	TogoVar
BATF3_chr1_212681417_212704840	212687967	A A	AAAAAGAA others(14): Show AAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0228 a0002c0002t0001g0228	1	158	0.0063	21	c.196 others(36): Show c.196-989_196-988insCTTTCTTTCTTTCTTTCTTTT	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding	2/2			chr1	TogoVar
BATF3_chr1_212681417_212704840	212687967	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	158	0.0063	21	c.196 others(36): Show c.196-989_196-988insCTTTCTTTCTTTCTTTCTTTC	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding	2/2			chr1	TogoVar
BATF_chr14_75517469_75551992	75539424	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	34	0.0294	21	c.169 others(38): Show c.169-7031_169-7011dupTTTTTTTTTTTTTTTTTTTTT	BATF	ENSG00000156127.8	transcript	ENST00000286639.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34810132	G G	GGAACAAA others(14): Show GGAACAAAAGGGATGAGAACAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0370 a0001c0003t0005g0370	1	378	0.0026	21	c.638 others(36): Show c.638+782_638+802dupATGTTCTCATCCCTTTTGTTC	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	5/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34866502	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02486.hp2 HG01358.hp1 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0123 a0001c0002t0002g0138 a0001c0002t0002g0123 a0001c0002t0002g0138	2	105	0.0190	21	c.114 others(38): Show c.114-4181_114-4180insCTTTCTTTTTTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	2/26			chr14	TogoVar
BBOX1_chr11_27035815_27132809	27057063	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01069.hp2 HG01099.hp1 others(4): Show HG00673.hp2 HG01069.hp2 HG01099.hp1 HG01433.hp2 NA18982.hp1 NA18997.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0204 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0279	7	202	0.0347	21	c.220 others(36): Show c.220-138_220-137insAAAAAAAAAAAAAAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CACAAAAA others(14): Show CACAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02630.hp2 HG01884.hp2 HG01891.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0132 a0001c0001t0001g0004 a0001c0001t0001g0132	3	271	0.0111	21	c.44 others(32): Show c.4408_*4409insTTTTTTTTTTTTTTTTTTTGT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480366	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18949.hp1 NA18942.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0134 a0001c0001t0001g0008 a0001c0001t0001g0134	2	261	0.0077	21	c.43 others(32): Show c.4394_*4395insTTTTTTTTTTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4018		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480373	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	396	0.0025	21	c.43 others(32): Show c.4387_*4388insGTTTTTTTTTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4011		chr16	TogoVar
BBS4_chr15_72681207_72743473	72687124	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02615.hp1 others(1): Show HG02055.hp1 HG02109.hp2 HG02615.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 others(1): Show a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345	4	17	0.2353	21	c.24+ others(34): Show c.24+883_24+884insTTTTTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72688411	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	18	0.0556	21	c.24+ others(36): Show c.24+2180_24+2181insTTTTTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72702802	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01928.hp2 HG01981.hp1 others(3): Show HG00735.hp2 HG01928.hp2 HG01981.hp1 HG02148.hp2 HG03654.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0088 others(3): Show a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0088 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0348	6	24	0.2500	21	c.77- others(36): Show c.77-6895_77-6875dupTTTTTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS9_chr7_33124564_33611069	33158906	T T	TAGACAGA others(14): Show TAGACAGAAAAAGGAAAGTGAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG00642.hp2 others(34): Show HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp2 HG01074.hp1 HG01168.hp1 HG01358.hp1 HG01517.hp1 HG01981.hp1 HG02132.hp1 HG02165.hp1 HG02293.hp1 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02683.hp2 HG02738.hp2 HG02976.hp2 HG03017.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG04199.hp1 HG06807.hp1 NA18949.hp2 NA18955.hp1 NA18961.hp2 NA18980.hp2 NA18982.hp1 NA18995.hp2 NA19005.hp2 NA19012.hp2 NA19070.hp2 NA19090.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0001c0025 a0002c0002 others(1): Show a0001c0001 a0001c0025 a0002c0002 a0015c0024	a0001c0001t0003 a0001c0001t0004 a0001c0025t0003 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0025t0003 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0014 a0015c0024t0011	a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0019 others(34): Show a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0027 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0004g0013 a0001c0025t0003g0030 a0002c0002t0003g0003 a0002c0002t0003g0004 a0002c0002t0003g0011 a0002c0002t0003g0017 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0003g0028 a0002c0002t0003g0031 a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0006 a0002c0002t0004g0007 a0002c0002t0004g0010 a0002c0002t0004g0012 a0002c0002t0004g0015 a0002c0002t0004g0018 a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0025 a0002c0002t0004g0032 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0011g0014 a0002c0002t0011g0016 a0002c0002t0014g0005 a0002c0002t0014g0029 a0015c0024t0011g0024	37	266	0.1391	21	c.328 others(38): Show c.328+3222_328+3242dupTGACAGACAGAAAAAGGAAAG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33231428	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01255.hp2 HG03579.hp1 others(1): Show HG00738.hp1 HG01255.hp2 HG03579.hp1 NA19240.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0013 a0010c0019 a0001c0001 a0001c0013 a0010c0019	a0001c0001t0001 a0001c0001t0002 a0001c0013t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0013t0010 a0010c0019t0003	a0001c0001t0001g0244 a0001c0001t0002g0259 a0001c0013t0010g0260 others(1): Show a0001c0001t0001g0244 a0001c0001t0002g0259 a0001c0013t0010g0260 a0010c0019t0003g0250	4	56	0.0714	21	c.443 others(40): Show c.443-25791_443-25790insTTTTTTTTTTTTTTTTTTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33326216	T T	TACTCTTT others(14): Show TACTCTTTTCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	266	0.0038	21	c.101 others(42): Show c.1017-10224_1017-10204dupACTCTTTTCCCTCCCCTCCCC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar

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