Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KBTBD11_chr8_1968677_2011936	1969152	C C	CATATAAT others(34): Show CATATAATATATATGTTTAGATTTAAAAATAAATTTATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0166 a0001c0001t0005g0166	1	329	0.0030	41	c.-56 others(52): Show c.-5692_-5691insATATAATATATATGTTTAGATTTAAAAATAAATT TATATTT	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		4524		chr8	TogoVar
KCNC2_chr12_75035078_75214839	75179619	G G	GTTTTATA others(34): Show GTTTTATATCTTTTATAAAAACTATAAAAGATATAAAACTAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02615.hp2 others(7): Show HG01891.hp2 HG02257.hp1 HG02615.hp2 HG02717.hp2 HG02886.hp2 HG02895.hp2 HG03209.hp2 HG03225.hp1 HG03579.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0034 a0001c0008t0005	a0001c0001t0001g0108 a0001c0001t0005g0004 a0001c0001t0005g0113 others(7): Show a0001c0001t0001g0108 a0001c0001t0005g0004 a0001c0001t0005g0113 a0001c0001t0013g0109 a0001c0001t0013g0110 a0001c0001t0019g0311 a0001c0001t0020g0312 a0001c0001t0022g0112 a0001c0001t0034g0313 a0001c0008t0005g0111	10	314	0.0318	41	c.687 others(60): Show c.687+27637_687+27677dupGTAGTTTTATATCTTTTATAGTTTTT ATAAAAGATATAAAA	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75179663	T T	TTATATCT others(34): Show TTATATCTTTTATAAAAACTATAAAAGATATAAAACTACTTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG03195.hp2 others(4): Show HG01884.hp2 HG02055.hp2 HG03195.hp2 HG03486.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0035 a0001c0001t0003 a0001c0001t0019 a0001c0001t0035	a0001c0001t0003g0298 a0001c0001t0003g0306 a0001c0001t0003g0307 others(4): Show a0001c0001t0003g0298 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0003g0314 a0001c0001t0019g0308 a0001c0001t0035g0305	7	301	0.0233	41	c.687 others(60): Show c.687+27593_687+27633dupCAAGTAGTTTTATATCTTTTATAGTT TTTATAAAAGATATA	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75179704	G G	GTATATCT others(34): Show GTATATCTTTTATAAAAACTATAAAAGATATAAAACTAGTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp1 HG00738.hp2 others(75): Show HG00423.hp2 HG00673.hp1 HG00738.hp2 HG01081.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp2 HG01516.hp2 HG01934.hp2 HG01943.hp2 HG02055.hp1 HG02056.hp1 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02723.hp1 HG02895.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 NA18747.hp1 NA18939.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp2 NA18983.hp2 NA18986.hp2 NA18988.hp2 NA18994.hp1 NA19004.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0023	a0001c0001t0001g0001 a0001c0001t0001g0096 a0001c0001t0001g0099 others(74): Show a0001c0001t0001g0001 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0223 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0288 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0241 a0001c0001t0004g0187 a0001c0001t0007g0098 a0001c0001t0007g0100 a0001c0001t0010g0097 a0001c0001t0023g0095	78	310	0.2516	41	c.687 others(60): Show c.687+27552_687+27592dupAAACTAGTTTTATATCTTTTATAGTT TTTATAAAAGATATA	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNH7_chr2_162366407_162843767	162752903	A A	AAAAAAGA others(34): Show AAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	10	0.1000	41	c.307 others(60): Show c.307+83633_307+83634insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTT	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15			chr2	TogoVar
KCNIP4_chr4_20723606_21953772	21177885	A A	ATATATAT others(34): Show ATATATATATATATGTATATATATATATATATATATATGTAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	80	0.0125	41	c.62- others(60): Show c.62-295177_62-295176insATACATATATATATATATATATATAT ACATATATATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21234185	G G	GTATATTA others(34): Show GTATATTATATATAACATATATTATATATAACATATATAACA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0046 a0001c0001t0007g0046	1	49	0.0204	41	c.62- others(60): Show c.62-351477_62-351476insTGTTATATATGTTATATATAATATAT GTTATATATAATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21234454	C C	CATACATC others(34): Show CATACATCATATATAACATATATAATATATAACATACATCAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	53	0.0189	41	c.62- others(60): Show c.62-351746_62-351745insATGATGTATGTTATATATTATATATG TTATATATGATGTAT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21234454	C C	CATACATT others(34): Show CATACATTATATATAACATATATAATATATAACATACATCAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	53	0.0189	41	c.62- others(60): Show c.62-351746_62-351745insATGATGTATGTTATATATTATATATG TTATATATAATGTAT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNK13_chr14_90056994_90190853	90143171	C C	CTTTCTTT others(34): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG00738.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0010 a0001c0001 a0003c0003 a0006c0010	a0001c0001t0001 a0003c0003t0002 a0006c0010t0001 a0001c0001t0001 a0003c0003t0002 a0006c0010t0001	a0001c0001t0001g0042 a0003c0003t0002g0124 a0006c0010t0001g0049 a0001c0001t0001g0042 a0003c0003t0002g0124 a0006c0010t0001g0049	3	158	0.0190	41	c.335 others(60): Show c.335-40933_335-40932insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTTCTTT	KCNK13	ENSG00000152315.5	transcript	ENST00000282146.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
KCNK2_chr1_215077737_215242090	215093689	T T	TATATATT others(34): Show TATATATTATATATTATATTATATATTATATAAAAATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02717.hp1 HG01109.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0040 a0001c0002t0058 a0001c0001t0040 a0001c0002t0058	a0001c0001t0040g0113 a0001c0002t0058g0172 a0001c0001t0040g0113 a0001c0002t0058g0172	2	258	0.0078	41	c.357 others(58): Show c.357+7018_357+7058dupTATATATTATATTATATATTATATAAAA ATATATAATATAT	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215230559	C C	CATATATA others(34): Show CATATATATATATATATATATATATACACATAACAGCCATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0128 a0001c0001t0013g0128	1	105	0.0095	41	c.964 others(58): Show c.964-4252_964-4251insTATATATACACATAACAGCCATATATAT ATATATATATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAATATAT others(34): Show AAATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	222	0.0045	41	c.-12 others(52): Show c.-1284_-1283insATATATATATATATATATATATATATATATATAT ATATATT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03130.hp1 HG02976.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	2	223	0.0090	41	c.-12 others(52): Show c.-1284_-1283insATATATATATATATATATATATATATATATATAT ATATATA	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB2_chr3_178531436_178849429	178758872	G G	GAGATATA others(34): Show GAGATATATATATATATATATATATCTCCTCTTGGAGATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18968.hp1 HG02622.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0211 a0001c0001t0003g0135 a0001c0001t0003g0211	2	110	0.0182	41	c.-67 others(60): Show c.-67-48471_-67-48470insAGATATATATATATATATATATATCT CCTCTTGGAGATATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759050	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	211	0.0047	41	c.-67 others(60): Show c.-67-48265_-67-48264insATCTCCAAGAGGGATATATATATATA TATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759474	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATCTTCAAGAGGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0184	1	213	0.0047	41	c.-67 others(60): Show c.-67-47855_-67-47854insATATATATATATATATCTTCAAGAGG GATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759699	C C	CTCTCCAA others(34): Show CTCTCCAAGAGGATATATATACATATATCTCTCTCCAAGAGG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02895.hp1 HG02027.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0064 a0001c0001t0003g0028 a0001c0001t0003g0064	2	187	0.0107	41	c.-67 others(60): Show c.-67-47644_-67-47643insTCTCCAAGAGGATATATATACATATA TCTCTCTCCAAGAGG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63415348	T T	TGGGAGGG others(34): Show TGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0028 a0001c0002t0021g0028	1	304	0.0033	41	c.130 others(58): Show c.1302-263_1302-223dupGCCGGGTGCTCGGTCCCCGTGGCCTCCC CTCCCTCCCTCCC	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	12/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63415416	G G	GCCGAGCA others(34): Show GCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03209.hp2 HG03453.hp1 HG02055.hp1 HG03209.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0063 a0001c0002t0064 a0001c0002t0021 a0001c0002t0063 a0001c0002t0064	a0001c0002t0021g0028 a0001c0002t0063g0171 a0001c0002t0064g0022 a0001c0002t0021g0028 a0001c0002t0063g0171 a0001c0002t0064g0022	3	261	0.0115	41	c.130 others(58): Show c.1302-331_1302-291dupTCCCCGTGGCCTCCCCTCCCTCCCTCCC GCCGGGTGCTCGG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	12/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63415453	G G	GGGGACCG others(34): Show GGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACC	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19043.hp1 HG02723.hp1 NA19043.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0029 a0001c0017t0047 a0001c0017t0029 a0001c0017t0047	a0001c0017t0029g0160 a0001c0017t0047g0055 a0001c0017t0029g0160 a0001c0017t0047g0055	2	328	0.0061	41	c.130 others(58): Show c.1302-328_1302-327insGGTGGCCTCCCCTCCCTCCCTCCCGCCG GGTGCTCGGTCCC	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	12/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63415494	G G	GGGGACCG others(34): Show GGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02698.hp2 HG02738.hp2 others(9): Show HG02683.hp2 HG02698.hp2 HG02738.hp2 HG03017.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2	a0001 a0001	a0001c0007 a0001c0014 a0001c0007 a0001c0014	a0001c0007t0005 a0001c0014t0005 a0001c0014t0014 a0001c0007t0005 a0001c0014t0005 a0001c0014t0014	a0001c0007t0005g0222 a0001c0007t0005g0224 a0001c0007t0005g0225 others(9): Show a0001c0007t0005g0222 a0001c0007t0005g0224 a0001c0007t0005g0225 a0001c0007t0005g0226 a0001c0007t0005g0230 a0001c0007t0005g0231 a0001c0007t0005g0232 a0001c0007t0005g0233 a0001c0007t0005g0242 a0001c0014t0005g0227 a0001c0014t0005g0229 a0001c0014t0014g0228	12	207	0.0580	41	c.130 others(58): Show c.1302-369_1302-368insGGTGGCCTCCCCTCCCTCCCTCCCGCCG GGTGCTCGGTCCC	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	12/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63472983	G G	GGGGGGAG others(34): Show GGGGGGAGAGGAGGGGGAGTGGGGGAGGGGGAGGGGAGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0248 a0002c0001t0002g0248	1	328	0.0030	41	c.-52 others(50): Show c.-521_-520insTGCCCTCCCCTCCCCCTCCCCCACTCCCCCTCCTCT CCCCC	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding		329		chr20	TogoVar
KCNQ3_chr8_132115861_132486095	132403016	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0136 a0001c0001t0092g0136	1	2	0.5000	41	c.386 others(60): Show c.386+77130_386+77131insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ5_chr6_72617064_73203853	72658578	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0033 a0001c0003t0033	a0001c0003t0033g0079 a0001c0003t0033g0079	1	61	0.0164	41	c.398 others(60): Show c.398+35992_398+35993insATATATATATATATATATATATATAT ATATATATATTTTTT	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	73024381	T T	TGATAGAT others(34): Show TGATAGATAGATAGATTAGATAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG02559.hp2 others(8): Show HG00438.hp1 HG00438.hp2 HG02559.hp2 HG02809.hp1 HG02895.hp2 HG02970.hp2 HG03486.hp1 NA18966.hp2 NA19030.hp2 NA19058.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008	a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 a0001c0002t0025 a0001c0003t0002 a0001c0005t0006 a0001c0008t0002	a0001c0001t0022g0075 a0001c0002t0001g0054 a0001c0002t0001g0056 others(8): Show a0001c0001t0022g0075 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0002g0072 a0001c0002t0003g0064 a0001c0002t0013g0042 a0001c0002t0013g0043 a0001c0002t0025g0065 a0001c0003t0002g0010 a0001c0005t0006g0017 a0001c0008t0002g0050	11	34	0.3235	41	c.490 others(60): Show c.490-17540_490-17539insTAGATAGATAGATAGATAGATAGATA GATAGATAGATAGAT	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNT1_chr9_135697185_135800502	135771809	A A	AGGGCCAG others(34): Show AGGGCCAGGCCAGGAAGCCACTCAGGCCACAGACCCACAGCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03209.hp1 HG02976.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0031 a0001c0003t0013 a0001c0003t0031	a0001c0003t0013g0068 a0001c0003t0031g0269 a0001c0003t0013g0068 a0001c0003t0031g0269	2	270	0.0074	41	c.200 others(58): Show c.2008+722_2008+762dupGCCAGGAAGCCACTCAGGCCACAGACCC ACAGCCGGGCCAG	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	18/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	29	0.0345	41	c.269 others(60): Show c.2697+1408_2697+1409insATATATATATATATATATATATATAT ATTTTTTTTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	29	0.0345	41	c.269 others(60): Show c.2697+1408_2697+1409insATATATATATATATATATATATATAT ATATTTTTTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCTD8_chr4_44168903_44453809	44317228	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA19086.hp2 NA18989.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0202 a0001c0001t0001g0047 a0001c0001t0001g0202	2	35	0.0571	41	c.961 others(62): Show c.961+130334_961+130335insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KDF1_chr1_26944562_26965468	26952507	G G	GGCCTGGG others(34): Show GGCCTGGGATGTGGATGGACCCAAGTATGCCCAAAAACCCTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0035 a0001c0005t0001g0062 a0001c0005t0001g0035 a0001c0005t0001g0062	2	276	0.0072	41	c.-32 others(55): Show c.-32-136_-32-96dupAAGGGTTTTTGGGCATACTTGGGTCCATCCA CATCCCAGGC	KDF1	ENSG00000175707.10	transcript	ENST00000320567.6	protein_coding	1/3			chr1	TogoVar
KDM4C_chr9_6752973_7180648	7052909	G G	GAGAGCGA others(34): Show GAGAGCGAGCGAGCGAGAGATTGTTGTACAGTGGGGTGCTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02109.hp2 HG02135.hp2 others(3): Show HG00558.hp2 HG02109.hp2 HG02135.hp2 HG03579.hp2 NA19065.hp1 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0004 a0003c0007 others(1): Show a0001c0002 a0003c0004 a0003c0007 a0004c0005	a0001c0002t0001 a0003c0004t0001 a0003c0007t0010 others(2): Show a0001c0002t0001 a0003c0004t0001 a0003c0007t0010 a0004c0005t0001 a0004c0005t0002	a0001c0002t0001g0031 a0003c0004t0001g0200 a0003c0007t0010g0023 others(3): Show a0001c0002t0001g0031 a0003c0004t0001g0200 a0003c0007t0010g0023 a0004c0005t0001g0177 a0004c0005t0002g0018 a0004c0005t0002g0076	6	119	0.0504	41	c.242 others(60): Show c.2424+3709_2424+3710insAGAGCGAGCGAGCGAGAGATTGTTGT ACAGTGGGGTGCTTT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	17/21			chr9	TogoVar
KDM4C_chr9_6752973_7180648	7052909	G G	GCGAGCGA others(34): Show GCGAGCGAGTGAGTGAGAGATTGTTGTACAGTGGGGTGCTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18967.hp1 HG02615.hp2 NA18967.hp1	a0001 a0028 a0001 a0028	a0001c0001 a0028c0057 a0001c0001 a0028c0057	a0001c0001t0001 a0028c0057t0001 a0001c0001t0001 a0028c0057t0001	a0001c0001t0001g0094 a0028c0057t0001g0213 a0001c0001t0001g0094 a0028c0057t0001g0213	2	115	0.0174	41	c.242 others(60): Show c.2424+3709_2424+3710insCGAGCGAGTGAGTGAGAGATTGTTGT ACAGTGGGGTGCTTT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	17/21			chr9	TogoVar
KIAA0513_chr16_85022795_85099218	85023859	A A	ATCTGCCT others(34): Show ATCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	388	0.0026	41	c.-41 others(52): Show c.-4172_-4171insTCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAG GCATGAG	KIAA0513	ENSG00000135709.14	transcript	ENST00000683363.1	protein_coding		3935		chr16	TogoVar
KIAA0930_chr22_45187244_45245894	45228723	A A	AAGATCCC others(34): Show AAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01361.hp1 others(1): Show HG01257.hp1 HG01258.hp1 HG01361.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0043 a0001c0001t0086 a0001c0001t0020 a0001c0001t0043 a0001c0001t0086	a0001c0001t0020g0353 a0001c0001t0043g0082 a0001c0001t0043g0083 others(1): Show a0001c0001t0020g0353 a0001c0001t0043g0082 a0001c0001t0043g0083 a0001c0001t0086g0081	4	373	0.0107	41	c.64+ others(58): Show c.64+11916_64+11917insCTCAGGTGAGTGTTTGGTGGTTGGGGGG TGGAGAGGGATCT	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45228791	A A	ACACTCAC others(34): Show ACACTCACCTGAGAGATCCCTCTCCACCCCCCAACCACCAAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01361.hp2 others(4): Show HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0048 a0001c0001t0079 a0001c0001t0008 a0001c0001t0048 a0001c0001t0079	a0001c0001t0008g0002 a0001c0001t0008g0056 a0001c0001t0008g0057 others(3): Show a0001c0001t0008g0002 a0001c0001t0008g0056 a0001c0001t0008g0057 a0001c0001t0008g0059 a0001c0001t0048g0061 a0001c0001t0079g0350	7	365	0.0192	41	c.64+ others(58): Show c.64+11848_64+11849insGTTGGTGGTTGGGGGGTGGAGAGGGATC TCTCAGGTGAGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45228861	A A	AACCACCA others(34): Show AACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0174 a0001c0003t0174	a0001c0003t0174g0263 a0001c0003t0174g0263	1	363	0.0028	41	c.64+ others(58): Show c.64+11778_64+11779insGGGGGGGTGGAGAGGGATCTCTCAGGTG AGTGTTTGGTGGT	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229105	C C	CGAGAGAT others(34): Show CGAGAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0118 a0001c0001t0028g0118	1	315	0.0032	41	c.64+ others(58): Show c.64+11494_64+11534dupAGGTGAGTGTTTGGTGGTTGGGGGGTGG AGAGGGATCTCTC	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229162	A A	ACCCCCGC others(34): Show ACCCCCGCCACCACCACTCACCCGAAAGATCCCTCCCCATCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01952.hp2 HG02273.hp2 HG01934.hp2 HG01952.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0049 a0001c0001t0020 a0001c0001t0049	a0001c0001t0020g0270 a0001c0001t0049g0266 a0001c0001t0049g0380 a0001c0001t0020g0270 a0001c0001t0049g0266 a0001c0001t0049g0380	3	391	0.0077	41	c.64+ others(58): Show c.64+11477_64+11478insGGATGGGGAGGGATCTTTCGGGTGAGTG GTGGTGGCGGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1671_chr22_24947716_25202448	25093824	T T	TCTCTCTC others(34): Show TCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0029 a0001c0012t0029	a0001c0012t0029g0071 a0001c0012t0029g0071	1	113	0.0088	41	c.453 others(62): Show c.4530+44460_4530+44461insCTCTCTCTCTCTCTCTCTCTCTGT CTCTCTCTCTCTCTGTC	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	6/12			chr22	TogoVar
KIAA1671_chr22_24947716_25202448	25093886	C C	CTCTCTCT others(34): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0094 a0001c0094	a0001c0094t0005 a0001c0094t0005	a0001c0094t0005g0003 a0001c0094t0005g0003	1	242	0.0041	41	c.453 others(62): Show c.4530+44522_4530+44523insTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCT	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	6/12			chr22	TogoVar
KIF13B_chr8_29062278_29268070	29228472	A A	AAAAAAAA others(34): Show AAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0269 a0001c0001t0018g0269	1	104	0.0096	41	c.149 others(60): Show c.149+16873_149+16874insATATATATATATATATATATATATAT ATATATTTTTTTTTT	KIF13B	ENSG00000197892.13	transcript	ENST00000524189.6	protein_coding	2/39			chr8	TogoVar
KIF15_chr3_44756794_44858256	44829534	T T	TATGCATA others(34): Show TATGCATATAATACGCGTATATATTATATGCATATAATACGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0124 a0004c0007t0002g0124	1	230	0.0043	41	c.294 others(58): Show c.2944-437_2944-436insATGCATATAATACGCGTATATATTATAT GCATATAATACGC	KIF15	ENSG00000163808.17	transcript	ENST00000326047.9	protein_coding	24/34			chr3	TogoVar
KIF17_chr1_20659014_20723007	20712649	A A	ATTATCTA others(34): Show ATTATCTATATATAATATAGATATTATCTATATATAATATAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02258.hp1 others(5): Show HG01884.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02895.hp1 HG02897.hp2 HG06807.hp2 NA18906.hp2	a0003 a0004 a0003 a0004	a0003c0023 a0003c0070 a0004c0022 a0003c0023 a0003c0070 a0004c0022	a0003c0023t0004 a0003c0070t0004 a0004c0022t0004 a0003c0023t0004 a0003c0070t0004 a0004c0022t0004	a0003c0023t0004g0406 a0003c0023t0004g0407 a0003c0023t0004g0408 others(5): Show a0003c0023t0004g0406 a0003c0023t0004g0407 a0003c0023t0004g0408 a0003c0070t0004g0409 a0004c0022t0004g0404 a0004c0022t0004g0405 a0004c0022t0004g0410 a0004c0022t0004g0411	8	411	0.0195	41	c.480 others(56): Show c.480+804_480+805insCTATATTATATATAGATAATATCTATATTA TATATAGATAA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF26B_chr1_245149985_245714432	245577746	T T	TCCTCACC others(34): Show TCCTCACCGGAAGAGCTTTGTGGAACTCCGGGCGATGCATCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp1 HG02630.hp2 HG00733.hp1 HG00738.hp1 HG02630.hp2	a0001 a0008 a0001 a0008	a0001c0013 a0001c0035 a0008c0024 a0001c0013 a0001c0035 a0008c0024	a0001c0013t0001 a0001c0035t0084 a0008c0024t0080 a0001c0013t0001 a0001c0035t0084 a0008c0024t0080	a0001c0013t0001g0053 a0001c0035t0084g0089 a0008c0024t0080g0010 a0001c0013t0001g0053 a0001c0035t0084g0089 a0008c0024t0080g0010	3	154	0.0195	41	c.135 others(62): Show c.1351-24808_1351-24807insACTCCGGGCGATGCATCCCCTCAC CGGAAGAGCTTTGTGGA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245577878	G G	GAAGAGCT others(34): Show GAAGAGCTTTGTGGAACTCCGGGCGATGCATCTCCTCACCGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0100 a0001c0014t0001g0100	1	160	0.0063	41	c.135 others(62): Show c.1351-24671_1351-24670insATCTCCTCACCGAAAGAGCTTTGT GGAACTCCGGGCGATGC	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF27_chr9_83829099_83926432	83848069	T T	TATGATAT others(34): Show TATGATATATCATATATATCATATATGATATATCATATATGA	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18942.hp2 HG02129.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0320 a0001c0002t0002g0321 a0001c0002t0002g0320 a0001c0002t0002g0321	2	247	0.0081	41	c.355 others(60): Show c.3556+2029_3556+2030insTCATATATGATATATCATATATGATA TATATGATATATCAT	KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17			chr9	TogoVar
KIF5B_chr10_32004015_32061425	32006436	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 NA19087.hp2 HG02135.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0160 a0001c0001t0018g0225 a0001c0001t0001g0160 a0001c0001t0018g0225	2	19	0.1053	41	c.51 others(52): Show c.5100_*5101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	KIF5B	ENSG00000170759.11	transcript	ENST00000302418.5	protein_coding		2578		chr10	TogoVar
KIFAP3_chr1_169916329_170079695	169973123	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	366	0.0027	41	c.189 others(58): Show c.1898-526_1898-525insATATATATATATATATATATATATATAT ATATATATATATA	KIFAP3	ENSG00000075945.13	transcript	ENST00000361580.7	protein_coding	16/19			chr1	TogoVar
KIFBP_chr10_68983803_69021982	69008391	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	109	0.0092	41	c.790 others(56): Show c.790-449_790-448insAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATA	KIFBP	ENSG00000198954.9	transcript	ENST00000361983.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr10	TogoVar

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