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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
IVL_chr1_152903546_152916886	152910476	G G	CAGCAGCA others(23): Show CAGCAGCAGGAGGGGCAGCTGGAGCTCTCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01123.hp2 HG01123.hp2	a0025 a0025	a0025c0027 a0025c0027	a0025c0027t0001 a0025c0027t0001	a0025c0027t0001g0001 a0025c0027t0001g0001	1	426	0.0024	30	c.678 others(37): Show c.678_679insCAGCAGCAGGAGGGGCAGCTGGAGCTCTCT	p.Pro others(43): Show p.Pro226_Glu227insGlnGlnGlnGluGlyGlnLeuGluLeuSer	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	742/2152	679/1758	227/585			chr1	TogoVar
IVL_chr1_152903546_152916886	152910505	A A	AGAGCAGC others(23): Show AGAGCAGCAGGAGGGGCAGCTGGAGCTCTCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp1 HG00438.hp1 HG00544.hp1 others(110): Show HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp1 HG00673.hp2 HG01069.hp1 HG01106.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG02738.hp1 HG03491.hp1 HG03492.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19058.hp2 NA19059.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19072.hp1 NA19076.hp2 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp1	a0001 a0023 a0001 a0023	a0001c0001 a0001c0011 a0001c0017 others(3): Show a0001c0001 a0001c0011 a0001c0017 a0001c0042 a0001c0045 a0023c0041	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0011t0002 a0001c0017t0002 a0001c0042t0002 a0001c0045t0003 a0023c0041t0002	a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0018 others(7): Show a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0003g0002 a0001c0001t0009g0002 a0001c0011t0002g0002 a0001c0017t0002g0002 a0001c0042t0002g0002 a0001c0045t0003g0002 a0023c0041t0002g0002	113	426	0.2653	30	c.708 others(37): Show c.708_709insGAGCAGCAGGAGGGGCAGCTGGAGCTCTCT	p.Pro others(43): Show p.Pro236_Gln237insGluGlnGlnGluGlyGlnLeuGluLeuSer	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	772/2152	709/1758	237/585			chr1	TogoVar
IVL_chr1_152903546_152916886	152910982	C C	CCTGGTGC others(23): Show CCTGGTGCAGCAGGAGGGGCAGCTGAAGCAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00673.hp1 HG00673.hp1	a0023 a0023	a0023c0041 a0023c0041	a0023c0041t0002 a0023c0041t0002	a0023c0041t0002g0002 a0023c0041t0002g0002	1	426	0.0024	30	c.121 others(39): Show c.1210_1239dupAAGCATCTGGTGCAGCAGGAGGGGCAGCTG	p.Lys others(13): Show p.Lys404_Leu413dup	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	1303/2152	1240/1758	414/585		INFO_REALIGN_3_PRIME	chr1	TogoVar
IZUMO3_chr9_24537952_24550897	24546446	C C	CCTTTTCT others(23): Show CCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG04199.hp2 HG02273.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0006 a0001c0002t0001g0013 a0001c0001t0001g0006 a0001c0002t0001g0013	2	426	0.0047	30	c.-79 others(39): Show c.-798_-797insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG		IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding					550		chr9	TogoVar
JAK1_chr1_64828229_64971549	64902583	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	326	0.0031	30	c.-77 others(49): Show c.-77-16243_-77-16242insACTCTCTCTCTCTCTCTCTCTCTCTC TCTC		JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24						chr1	TogoVar
JAK1_chr1_64828229_64971549	64902583	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03579.hp1 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0293 a0001c0003t0001g0190 a0001c0001t0001g0293 a0001c0003t0001g0190	2	326	0.0061	30	c.-77 others(49): Show c.-77-16243_-77-16242insACACTCTCTCTCTCTCTCTCTCTCTC TCTC		JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24						chr1	TogoVar
JAK1_chr1_64828229_64971549	64902583	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03453.hp1 HG02922.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0303 a0001c0001t0001g0304	2	326	0.0061	30	c.-77 others(49): Show c.-77-16243_-77-16242insACACACTCTCTCTCTCTCTCTCTCTC TCTC		JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24						chr1	TogoVar
JAK2_chr9_4980272_5134948	5125721	C C	CCATTTCT others(23): Show CCATTTCTTTTATTAATGTGATTGACTATTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(145): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01943.hp2 HG01975.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp2 NA18947.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18986.hp1 NA18991.hp1 NA18999.hp1 NA19000.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19068.hp2 NA19075.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0018 a0001c0019 a0003c0020 a0004c0011	a0001c0001t0010 a0001c0002t0001 a0001c0002t0006 others(37): Show a0001c0001t0010 a0001c0002t0001 a0001c0002t0006 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0002t0019 a0001c0002t0025 a0001c0002t0029 a0001c0002t0033 a0001c0002t0034 a0001c0002t0039 a0001c0002t0049 a0001c0002t0055 a0001c0002t0057 a0001c0002t0058 a0001c0003t0001 a0001c0003t0008 a0001c0003t0013 a0001c0003t0030 a0001c0003t0035 a0001c0003t0054 a0001c0003t0056 a0001c0003t0060 a0001c0004t0006 a0001c0004t0031 a0001c0004t0052 a0001c0004t0053 a0001c0005t0047 a0001c0005t0048 a0001c0009t0024 a0001c0010t0006 a0001c0018t0050 a0001c0019t0001 a0003c0020t0025 a0004c0011t0001	a0001c0001t0010g0065 a0001c0001t0010g0066 a0001c0001t0010g0067 others(142): Show a0001c0001t0010g0065 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0064 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0155 a0001c0002t0001g0157 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0284 a0001c0002t0006g0012 a0001c0002t0008g0268 a0001c0002t0008g0269 a0001c0002t0008g0270 a0001c0002t0008g0271 a0001c0002t0008g0285 a0001c0002t0008g0286 a0001c0002t0010g0113 a0001c0002t0010g0126 a0001c0002t0010g0272 a0001c0002t0012g0008 a0001c0002t0012g0009 a0001c0002t0012g0010 a0001c0002t0012g0100 a0001c0002t0012g0359 a0001c0002t0014g0001 a0001c0002t0014g0014 a0001c0002t0014g0015 a0001c0002t0015g0260 a0001c0002t0015g0261 a0001c0002t0015g0262 a0001c0002t0016g0282 a0001c0002t0018g0098 a0001c0002t0018g0099 a0001c0002t0018g0360 a0001c0002t0019g0148 a0001c0002t0019g0149 a0001c0002t0019g0150 a0001c0002t0025g0280 a0001c0002t0029g0288 a0001c0002t0029g0289 a0001c0002t0033g0129 a0001c0002t0034g0128 a0001c0002t0039g0258 a0001c0002t0049g0292 a0001c0002t0055g0011 a0001c0002t0057g0102 a0001c0002t0058g0267 a0001c0003t0001g0092 a0001c0003t0001g0181 a0001c0003t0008g0299 a0001c0003t0008g0300 a0001c0003t0013g0029 a0001c0003t0013g0030 a0001c0003t0013g0031 a0001c0003t0013g0051 a0001c0003t0013g0054 a0001c0003t0030g0207 a0001c0003t0030g0208 a0001c0003t0035g0279 a0001c0003t0054g0028 a0001c0003t0056g0027 a0001c0003t0060g0007 a0001c0004t0006g0006 a0001c0004t0006g0036 a0001c0004t0006g0037 a0001c0004t0006g0038 a0001c0004t0006g0039 a0001c0004t0006g0040 a0001c0004t0006g0041 a0001c0004t0006g0045 a0001c0004t0006g0046 a0001c0004t0006g0048 a0001c0004t0006g0049 a0001c0004t0006g0057 a0001c0004t0031g0042 a0001c0004t0031g0043 a0001c0004t0052g0044 a0001c0004t0053g0047 a0001c0005t0047g0290 a0001c0005t0048g0291 a0001c0009t0024g0190 a0001c0009t0024g0259 a0001c0010t0006g0013 a0001c0010t0006g0016 a0001c0018t0050g0147 a0001c0019t0001g0132 a0003c0020t0025g0123 a0004c0011t0001g0091	148	364	0.4066	30	c.317 others(47): Show c.3178-602_3178-601insATTAATGTGATTGACTATTGCATTTCTT TT		JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	23/24					INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK2_chr9_4980272_5134948	5131435	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03209.hp1 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0030 a0001c0003t0013g0051 a0001c0003t0013g0030 a0001c0003t0013g0051	2	364	0.0055	30	c.46 others(41): Show c.4644_*4645insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding					1488		chr9	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18949.hp2 NA18964.hp2 HG03688.hp1 NA18949.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0084 a0001c0002t0088 a0001c0002t0005 a0001c0002t0084 a0001c0002t0088	a0001c0002t0005g0233 a0001c0002t0084g0239 a0001c0002t0088g0241 a0001c0002t0005g0233 a0001c0002t0084g0239 a0001c0002t0088g0241	3	250	0.0120	30	c.-14 others(51): Show c.-149+40300_-149+40301insAAAATATATATATATATATATATA TATATA		JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21						chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132079139	T T	TGGCCTGG others(23): Show TGGCCTGGGAGCGGACGGCCTGGGAGCGGAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03471.hp1 HG04228.hp2 HG02280.hp2 HG03471.hp1 HG04228.hp2	a0001 a0004 a0001 a0004	a0001c0015 a0001c0022 a0004c0045 a0001c0015 a0001c0022 a0004c0045	a0001c0015t0005 a0001c0022t0002 a0004c0045t0001 a0001c0015t0005 a0001c0022t0002 a0004c0045t0001	a0001c0015t0005g0140 a0001c0022t0002g0080 a0004c0045t0001g0090 a0001c0015t0005g0140 a0001c0022t0002g0080 a0004c0045t0001g0090	3	158	0.0190	30	c.-13 others(51): Show c.-138+13097_-138+13098insTGGGAGCGGACGGCCTGGGAGCGG ACGGCC		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0227 a0001c0001t0008g0227	1	328	0.0031	30	c.67+ others(47): Show c.67+20895_67+20896insATATATATATATATATATATATATATTT TT		JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr21	TogoVar
JAZF1_chr7_27825577_28185795	27849752	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	206	0.0049	30	c.386 others(47): Show c.386-8886_386-8885insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT		JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4						chr7	TogoVar
JAZF1_chr7_27825577_28185795	27849752	G G	GACACAGA others(23): Show GACACAGACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01175.hp2 HG01934.hp2 others(7): Show HG01169.hp2 HG01175.hp2 HG01934.hp2 HG02293.hp1 HG02965.hp2 HG03098.hp2 HG03209.hp1 HG04228.hp1 NA19043.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0001 a0001c0001t0002 a0001c0001t0019	a0001c0001t0001g0077 a0001c0001t0001g0123 a0001c0001t0001g0130 others(7): Show a0001c0001t0001g0077 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0172 a0001c0001t0001g0190 a0001c0001t0002g0009 a0001c0001t0002g0024 a0001c0001t0019g0145	10	206	0.0485	30	c.386 others(47): Show c.386-8886_386-8885insGTGTGTGTGTGTGTGTGTGTGTGTCTGT GT		JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4						chr7	TogoVar
JAZF1_chr7_27825577_28185795	27849754	C C	CACAGACA others(23): Show CACAGACACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0170 a0001c0001t0018g0170	1	206	0.0049	30	c.386 others(47): Show c.386-8888_386-8887insCTGTGTGTGTGTGTGTGTGTGTGTGTCT GT		JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4						chr7	TogoVar
JAZF1_chr7_27825577_28185795	27849772	C C	CACACACA others(23): Show CACACACACACACACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02976.hp1 HG03130.hp1 others(1): Show HG02145.hp2 HG02976.hp1 HG03130.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0197 others(1): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0197 a0001c0001t0002g0066	4	206	0.0194	30	c.386 others(47): Show c.386-8906_386-8905insATATGTGTGTGTGTGTGTGTGTGTGTGT GT		JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4						chr7	TogoVar
JAZF1_chr7_27825577_28185795	27898304	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	206	0.0049	30	c.189 others(47): Show c.189-2889_189-2888insGTATATATATATATATATATATATATAT AT		JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	2/4						chr7	TogoVar
JKAMP_chr14_59479517_59510410	59502754	T T	TTGTTTTG others(23): Show TTGTTTTGTTTTGTTTTGTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01175.hp2 HG01243.hp2 others(28): Show HG01074.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01358.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01981.hp2 HG02055.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03490.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG04115.hp2 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010	a0001c0001t0002g0069 a0001c0001t0003g0010 a0001c0001t0003g0013 others(11): Show a0001c0001t0002g0069 a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0022 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0008g0014 a0001c0001t0010g0036	31	358	0.0866	30	c.718 others(47): Show c.718-1099_718-1098insGTTTTGTTTTGTTTTGTTTTTTTGTTTT GT		JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr14	TogoVar
JKAMP_chr14_59479517_59510410	59508399	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG03831.hp2 NA18982.hp1 others(1): Show HG00741.hp1 HG03831.hp2 NA18982.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0038 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0038 a0001c0001t0002g0057	4	358	0.0112	30	c.43 others(41): Show c.4327_*4328insACACACACACACACACACACACACACACAC		JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding					2990		chr14	TogoVar
JMJD1C_chr10_63162225_63470977	63277731	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02895.hp2 HG02818.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0152 a0001c0001t0001g0032 a0001c0001t0001g0152	2	310	0.0065	30	c.334 others(49): Show c.334-12968_334-12967insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25						chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63337624	A A	AAAAGAAA others(23): Show AAAAGAAAAGAAAAGAAAAGAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01261.hp2 NA19000.hp2 others(2): Show HG00099.hp1 HG01261.hp2 NA19000.hp2 NA19060.hp1 NA19090.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0240 a0003c0003t0001g0171 a0003c0003t0001g0174 others(2): Show a0002c0002t0001g0240 a0003c0003t0001g0171 a0003c0003t0001g0174 a0003c0003t0001g0197 a0003c0003t0001g0202	5	310	0.0161	30	c.333 others(49): Show c.333+42693_333+42694insCTTTTCTTTTTCTTTTCTTTTCTTTT CTTT		JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25						chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63337624	A A	AAAAGAAA others(23): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0017 a0004c0004t0002g0023 a0004c0004t0002g0017 a0004c0004t0002g0023	2	310	0.0065	30	c.333 others(49): Show c.333+42693_333+42694insCTTTTTCTTTTCTTTTCTTTTCTTTT CTTT		JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25						chr10	TogoVar
JMJD6_chr17_76713451_76731606	76730441	A A	AAAAAAGA others(23): Show AAAAAAGAAAAGTGTGACCCCTGTCTCTAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	30	c.-39 others(41): Show c.-3967_-3966insCTTAGAGACAGGGGTCACACTTTTCTTTTT		JMJD6	ENSG00000070495.15	transcript	ENST00000397625.9	protein_coding					3836		chr17	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18955.hp2 NA18968.hp2 others(1): Show NA18946.hp1 NA18955.hp2 NA18968.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0138 a0001c0001t0002g0021 a0001c0001t0002g0138	4	386	0.0104	30	c.65- others(45): Show c.65-1325_65-1324insATATATATATATATATATATATTTTTTTTT		JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	386	0.0026	30	c.65- others(45): Show c.65-1325_65-1324insATATATATATATATATATATTTTTTTTTTT		JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	386	0.0026	30	c.65- others(45): Show c.65-1325_65-1324insATATATATATATATATATTTTTTTTTTTTT		JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	386	0.0026	30	c.65- others(45): Show c.65-1325_65-1324insATATATATATATATATTTTTTTTTTTTTTT		JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr15	TogoVar
JPH1_chr8_74229700_74326540	74296019	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01433.hp1 HG01515.hp2 others(10): Show HG00323.hp1 HG01433.hp1 HG01515.hp2 HG02738.hp1 HG03834.hp2 NA18956.hp1 NA18960.hp2 NA18967.hp2 NA18982.hp2 NA18985.hp2 NA19011.hp1 NA19060.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0135 a0001c0001t0001g0205 a0001c0001t0002g0078 others(10): Show a0001c0001t0001g0135 a0001c0001t0001g0205 a0001c0001t0002g0078 a0001c0001t0002g0177 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0002g0228	13	330	0.0394	30	c.113 others(51): Show c.1139+18841_1139+18842insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT		JPH1	ENSG00000104369.5	transcript	ENST00000342232.5	protein_coding	2/5						chr8	TogoVar
JSRP1_chr19_2247252_2261417	2259312	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0036 a0002c0003t0001g0036	1	436	0.0023	30	c.-29 others(41): Show c.-2961_-2960insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		JSRP1	ENSG00000167476.10	transcript	ENST00000300961.10	protein_coding					2896		chr19	TogoVar
KALRN_chr3_124028369_124731325	124044905	C C	CCTTCCTT others(23): Show CCTTCCTTCCTTCCTTCCTTCTCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0020 a0001c0002t0007g0020	1	116	0.0086	30	c.73+ others(47): Show c.73+11100_73+11101insCTTCCTTCCTTCTCTTCCTTCTCTTCCT TC		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124054357	T T	TTAAAAAT others(23): Show TTAAAAATAAAAATAAAAATAAAAATAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02273.hp2 HG02965.hp1 others(2): Show HG02145.hp2 HG02273.hp2 HG02965.hp1 NA18995.hp1 NA19077.hp1	a0001 a0001	a0001c0027 a0001c0036 a0001c0056 others(2): Show a0001c0027 a0001c0036 a0001c0056 a0001c0058 a0001c0060	a0001c0027t0005 a0001c0036t0002 a0001c0056t0002 others(2): Show a0001c0027t0005 a0001c0036t0002 a0001c0056t0002 a0001c0058t0001 a0001c0060t0006	a0001c0027t0005g0032 a0001c0036t0002g0054 a0001c0056t0002g0014 others(2): Show a0001c0027t0005g0032 a0001c0036t0002g0054 a0001c0056t0002g0014 a0001c0058t0001g0016 a0001c0060t0006g0099	5	116	0.0431	30	c.73+ others(47): Show c.73+20573_73+20574insATAAAAATAAAAATAAAAATAAAAATAA AA		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124109686	T T	TATATATA others(23): Show TATATATATCATACTTTGATATATATATGAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01243.hp2 HG02897.hp1 others(2): Show HG00323.hp1 HG01243.hp2 HG02897.hp1 HG03516.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0016 others(2): Show a0001c0002 a0001c0007 a0001c0016 a0001c0026 a0001c0030	a0001c0002t0007 a0001c0007t0003 a0001c0016t0025 others(2): Show a0001c0002t0007 a0001c0007t0003 a0001c0016t0025 a0001c0026t0006 a0001c0030t0002	a0001c0002t0007g0020 a0001c0007t0003g0101 a0001c0016t0025g0004 others(2): Show a0001c0002t0007g0020 a0001c0007t0003g0101 a0001c0016t0025g0004 a0001c0026t0006g0110 a0001c0030t0002g0109	5	116	0.0431	30	c.73+ others(47): Show c.73+76090_73+76119dupATCATACTTTGATATATATATGACATAT AT		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124109818	A A	ACTTTGAT others(23): Show ACTTTGATATATATATGACATATATGTCATG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0069 a0001c0069	a0001c0069t0022 a0001c0069t0022	a0001c0069t0022g0102 a0001c0069t0022g0102	1	116	0.0086	30	c.73+ others(47): Show c.73+76029_73+76030insGTCATGCTTTGATATATATATGACATAT AT		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124109843	A A	ATCATACT others(23): Show ATCATACTTTGATATATATATGACATATATG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0026 a0001c0018t0026	a0001c0018t0026g0073 a0001c0018t0026g0073	1	116	0.0086	30	c.73+ others(47): Show c.73+76059_73+76060insGTCATACTTTGATATATATATGACATAT AT		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124109903	A A	ATCATACT others(23): Show ATCATACTTTGATATATATATGACATATATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02896.hp2 HG03471.hp1 others(1): Show HG02451.hp2 HG02896.hp2 HG03471.hp1 HG03516.hp2	a0001 a0008 a0001 a0008	a0001c0012 a0001c0021 a0001c0071 others(1): Show a0001c0012 a0001c0021 a0001c0071 a0008c0045	a0001c0012t0010 a0001c0021t0001 a0001c0071t0003 others(1): Show a0001c0012t0010 a0001c0021t0001 a0001c0071t0003 a0008c0045t0010	a0001c0012t0010g0078 a0001c0021t0001g0087 a0001c0071t0003g0082 others(1): Show a0001c0012t0010g0078 a0001c0021t0001g0087 a0001c0071t0003g0082 a0008c0045t0010g0077	4	116	0.0345	30	c.73+ others(47): Show c.73+76109_73+76138dupATGACATATATGTCATACTTTGATATAT AT		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124110154	A A	ATGACATA others(23): Show ATGACATATATGTCATGCTTTGATATATATG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0006 a0001c0060t0006	a0001c0060t0006g0099 a0001c0060t0006g0099	1	116	0.0086	30	c.73+ others(47): Show c.73+76356_73+76357insGCTTTGATATATATGTGACATATATGTC AT		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124110315	G G	GTCATACT others(23): Show GTCATACTTTGATATATATATGACATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03041.hp1 HG03209.hp2 HG02647.hp2 HG03041.hp1 HG03209.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0044 a0003c0070 a0001c0003 a0001c0044 a0003c0070	a0001c0003t0028 a0001c0044t0015 a0003c0070t0023 a0001c0003t0028 a0001c0044t0015 a0003c0070t0023	a0001c0003t0028g0081 a0001c0044t0015g0080 a0003c0070t0023g0086 a0001c0003t0028g0081 a0001c0044t0015g0080 a0003c0070t0023g0086	3	116	0.0259	30	c.73+ others(47): Show c.73+76552_73+76581dupTGACATATATATCATACTTTGATATATA TA		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124265298	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01258.hp1 HG02486.hp2 others(6): Show HG01071.hp2 HG01258.hp1 HG02486.hp2 HG03516.hp1 HG03540.hp1 NA18612.hp1 NA18955.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 others(6): Show a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0016 a0001c0029 a0001c0030 a0001c0055 a0001c0061	a0001c0002t0007 a0001c0003t0001 a0001c0006t0001 others(6): Show a0001c0002t0007 a0001c0003t0001 a0001c0006t0001 a0001c0007t0002 a0001c0016t0011 a0001c0029t0020 a0001c0030t0002 a0001c0055t0001 a0001c0061t0001	a0001c0002t0007g0020 a0001c0003t0001g0041 a0001c0006t0001g0025 others(6): Show a0001c0002t0007g0020 a0001c0003t0001g0041 a0001c0006t0001g0025 a0001c0007t0002g0019 a0001c0016t0011g0064 a0001c0029t0020g0114 a0001c0030t0002g0109 a0001c0055t0001g0031 a0001c0061t0001g0098	9	116	0.0776	30	c.456 others(45): Show c.456+622_456+623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	4/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK1_chr9_499695_751103	671623	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19030.hp1 HG01891.hp1 NA19030.hp1	a0007 a0008 a0007 a0008	a0007c0025 a0008c0008 a0007c0025 a0008c0008	a0007c0025t0002 a0008c0008t0005 a0007c0025t0002 a0008c0008t0005	a0007c0025t0002g0230 a0008c0008t0005g0003 a0007c0025t0002g0230 a0008c0008t0005g0003	2	254	0.0079	30	c.-83 others(47): Show c.-83-5263_-83-5262insAAAAAAAAAAAAAAAAAAAAAAGAAGAA AA		KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK3_chr19_8317584_8348262	8340275	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	406	0.0025	30	c.-28 others(47): Show c.-28-2420_-28-2419insATATATATATATATATATATATATATAT AT		KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	1/10						chr19	TogoVar
KANK3_chr19_8317584_8348262	8340291	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02970.hp1 HG02723.hp2 HG02970.hp1	a0001 a0003 a0001 a0003	a0001c0015 a0003c0003 a0001c0015 a0003c0003	a0001c0015t0001 a0003c0003t0001 a0001c0015t0001 a0003c0003t0001	a0001c0015t0001g0218 a0003c0003t0001g0267 a0001c0015t0001g0218 a0003c0003t0001g0267	2	406	0.0049	30	c.-28 others(47): Show c.-28-2436_-28-2435insGTGTGTGTATATATATATATATATATAT AT		KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	1/10						chr19	TogoVar
KANK3_chr19_8317584_8348262	8340291	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	406	0.0025	30	c.-28 others(47): Show c.-28-2436_-28-2435insGTGTGTATATATATATATATATATATAT AT		KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	1/10						chr19	TogoVar
KANK3_chr19_8317584_8348262	8340291	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03491.hp2 HG03704.hp1 others(8): Show HG02071.hp1 HG03491.hp2 HG03704.hp1 HG03834.hp2 NA18906.hp2 NA18970.hp2 NA18975.hp1 NA18995.hp2 NA19004.hp2 NA19011.hp1 NA19074.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0016	a0001c0001 a0003c0003 a0007c0007 others(1): Show a0001c0001 a0003c0003 a0007c0007 a0016c0023	a0001c0001t0001 a0003c0003t0001 a0007c0007t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0007c0007t0001 a0016c0023t0005	a0001c0001t0001g0006 a0001c0001t0001g0199 a0001c0001t0001g0201 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0003c0003t0001g0005 a0003c0003t0001g0041 a0007c0007t0001g0198 a0016c0023t0005g0200	11	406	0.0271	30	c.-28 others(47): Show c.-28-2436_-28-2435insGTGTATATATATATATATATATATATAT AT		KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	1/10						chr19	TogoVar
KANK3_chr19_8317584_8348262	8340291	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03516.hp1 NA18964.hp1 others(5): Show HG02155.hp2 HG03516.hp1 NA18964.hp1 NA18968.hp1 NA18999.hp2 NA19007.hp1 NA19009.hp2 NA20905.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0008	a0001c0001 a0003c0003 a0007c0007 others(1): Show a0001c0001 a0003c0003 a0007c0007 a0008c0031	a0001c0001t0001 a0003c0003t0001 a0007c0007t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0007c0007t0001 a0008c0031t0001	a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 others(4): Show a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0003c0003t0001g0040 a0007c0007t0001g0008 a0007c0007t0001g0175 a0008c0031t0001g0172	8	406	0.0197	30	c.-28 others(47): Show c.-28-2436_-28-2435insGTATATATATATATATATATATATATAT AT		KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	1/10						chr19	TogoVar
KANK4_chr1_62231165_62324434	62278400	T T	TCTTTCTT others(23): Show TCTTTCTTTCTTTTCTTTCTTTATTTCTTTC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0271 a0001c0001t0014g0271	1	322	0.0031	30	c.16+ others(45): Show c.16+3148_16+3149insGAAAGAAATAAAGAAAGAAAAGAAAGAAAG		KANK4	ENSG00000132854.19	transcript	ENST00000371153.9	protein_coding	2/9						chr1	TogoVar
KANSL1L_chr2_210016421_210176409	210162222	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19009.hp1 NA18954.hp1 NA19009.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0003 a0001c0001t0001 a0004c0005t0003	a0001c0001t0001g0090 a0004c0005t0003g0020 a0001c0001t0001g0090 a0004c0005t0003g0020	2	284	0.0070	30	c.-29 others(47): Show c.-29-7612_-29-7611insTATATATATATATATATATATATATATA TA		KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	1/14						chr2	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA19056.hp1 NA18972.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0168 a0001c0001t0002g0134 a0001c0001t0002g0168	2	321	0.0062	30	c.129 others(49): Show c.1290-1611_1290-1610insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14						chr17	TogoVar
KANSL3_chr2_96588172_96643312	96611903	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0267 a0006c0008t0001g0267	1	340	0.0029	30	c.108 others(47): Show c.1086+349_1086+378dupCACACACACACACACACACACACACACA CA		KANSL3	ENSG00000114982.19	transcript	ENST00000431828.6	protein_coding	9/20						chr2	TogoVar
KARS1_chr16_75622724_75652665	75624114	C C	CATATATA others(23): Show CATATATATATATGTGTGTGTGTGTGTGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	380	0.0026	30	c.37 others(41): Show c.3780_*3781insATACACACACACACACACATATATATATAT		KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding					3609		chr16	TogoVar
KAT2B_chr3_20035446_20159404	20081878	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03041.hp1 HG03471.hp2 HG02970.hp2 HG03041.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0098 a0001c0001t0001g0306 a0001c0001t0001g0023 a0001c0001t0001g0098 a0001c0001t0001g0306	3	374	0.0080	30	c.430 others(47): Show c.430+9431_430+9432insATATATATATATATATATATATATATAT AT		KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr3	TogoVar

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