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
KAT2B_chr3_20035446_20159404	20062252	A A	AAGAATAT others(32): Show AAGAATATATATAAAATATATAATATATAAAATATATGAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0186 a0004c0011t0001g0186	1	349	0.0029	39	c.304 others(58): Show c.304-10080_304-10079insGAATATATATAAAATATATAATATAT AAAATATATGATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20062254	A A	AAATATAT others(32): Show AAATATATATAAAATATATAATATATAAAATATATGATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00735.hp2 others(19): Show HG00280.hp2 HG00558.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01074.hp2 HG01109.hp2 HG01943.hp2 HG01978.hp1 HG02015.hp2 HG02129.hp2 HG02523.hp2 HG03225.hp1 HG03486.hp2 HG03831.hp2 HG03942.hp2 HG04204.hp2 NA18612.hp1 NA18971.hp2 NA19056.hp2 NA19062.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0007t0007	a0001c0001t0001g0004 a0001c0001t0001g0076 a0001c0001t0001g0103 others(18): Show a0001c0001t0001g0004 a0001c0001t0001g0076 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0139 a0001c0001t0001g0272 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0347 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0370 a0001c0001t0002g0112 a0001c0001t0008g0222 a0001c0001t0008g0223 a0001c0007t0007g0330 a0001c0007t0007g0331	22	246	0.0894	39	c.304 others(58): Show c.304-10078_304-10077insATATATATAAAATATATAATATATAA AATATATGATATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20149495	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0323 a0001c0002t0002g0323	1	45	0.0222	39	c.230 others(58): Show c.2305+1033_2305+1034insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAZN_chr1_14593685_15123043	14695510	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18970.hp1 NA18986.hp1 others(1): Show HG02083.hp2 NA18970.hp1 NA18986.hp1 NA19056.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0002 a0002c0002t0012 a0003c0005t0002 a0001c0001t0002 a0002c0002t0012 a0003c0005t0002	a0001c0001t0002g0109 a0002c0002t0012g0098 a0002c0002t0012g0099 others(1): Show a0001c0001t0002g0109 a0002c0002t0012g0098 a0002c0002t0012g0099 a0003c0005t0002g0074	4	67	0.0597	39	c.226 others(58): Show c.226+96302_226+96303insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883341	A A	AGAGAGAG others(32): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0065 a0002c0002t0029g0065	1	132	0.0076	39	c.227 others(58): Show c.227-77341_227-77340insGAGAGAGAGAGAGAGAGAGAGAGAGA AAGAAAGAAAGGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883341	A A	AGAGAGAG others(32): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0099 a0002c0002t0012g0099	1	132	0.0076	39	c.227 others(58): Show c.227-77341_227-77340insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAAAGGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883342	G G	GAGAGAGA others(32): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0116	1	134	0.0075	39	c.227 others(58): Show c.227-77341_227-77340insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAAAGAA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883345	A A	AGAGAGAG others(32): Show AGAGAGAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	130	0.0077	39	c.227 others(58): Show c.227-77337_227-77336insGAGAGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14985245	T T	TGGTGGGA others(32): Show TGGTGGGAGGCCAAGGTGGGAGGCCAAGGTGGGAGGCCAA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0098 a0002c0002t0012g0098	1	105	0.0095	39	c.418 others(58): Show c.418+24392_418+24430dupGCCAAGGTGGGAGGCCAAGGTGGGAG GCCAAGGTGGGAG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15101164	T T	TCTCTCTC others(32): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	1	36	0.0278	39	c.154 others(56): Show c.1548-379_1548-378insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTC	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	10/14			chr1	TogoVar
KBTBD2_chr7_32863172_32896760	32891878	G G	GCCGCCCC others(32): Show GCCGCCCCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01175.hp1 HG03942.hp2 HG00733.hp2 HG01175.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0131 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0131	3	392	0.0077	39	c.-68 others(48): Show c.-682_-681insGGGCGGGGGCGGCGGGGGCGGCGGGGGCGGCGGGGG CGG	KBTBD2	ENSG00000170852.12	transcript	ENST00000304056.9	protein_coding		119		chr7	TogoVar
KBTBD2_chr7_32863172_32896760	32891887	G G	GCCGCCCC others(32): Show GCCGCCCCCGCCCCCGCCCCCGCCCCCGCCGCCCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	367	0.0027	39	c.-69 others(48): Show c.-691_-690insGGGCGGGGGCGGCGGGGGCGGGGGCGGGGGCGGGGG CGG	KBTBD2	ENSG00000170852.12	transcript	ENST00000304056.9	protein_coding		128		chr7	TogoVar
KBTBD2_chr7_32863172_32896760	32891893	C C	CCCGCCGC others(32): Show CCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGCCGCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	422	0.0024	39	c.-69 others(48): Show c.-697_-696insCGGGGGCGGCGGGGGCGGCGGGGGCGGCGGGGGCGG CGG	KBTBD2	ENSG00000170852.12	transcript	ENST00000304056.9	protein_coding		134		chr7	TogoVar
KCNB2_chr8_72532225_72943349	72591832	T T	TTATTTTG others(32): Show TTATTTTGGCTATTATTTTATGCAAAGTTTTTCATTTATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	164	0.0061	39	c.579 others(58): Show c.579+23520_579+23558dupTATTTTGGCTATTATTTTATGCAAAG TTTTTCATTTATA	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNC3_chr19_50306937_50334377	50331549	C C	CCCCATCT others(32): Show CCCCATCTCTGGTGTATTTCCCCCTCCTTCTTCCCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0026	39	c.-24 others(50): Show c.-2468_-2467insTGAGGGGGAAGAAGGAGGGGGAAATACACCAGAG ATGGG	KCNC3	ENSG00000131398.15	transcript	ENST00000477616.2	protein_coding		2173		chr19	TogoVar
KCNG2_chr18_79792938_79905100	79888358	T T	TGGGACAG others(32): Show TGGGACAGCAGCATCCTCCTCATGAGGCCGCGGTGGGGCC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	310	0.0032	39	c.625 others(58): Show c.625-10676_625-10638dupAGCAGCATCCTCCTCATGAGGCCGCG GTGGGGCCGGGAC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79888370	A A	ATCCTCCT others(32): Show ATCCTCCTCATGAGGCCGCGGTGGGGCCGGGACGGCAGCG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	114	0.0088	39	c.625 others(58): Show c.625-10635_625-10634insAGCGTCCTCCTCATGAGGCCGCGGTG GGGCCGGGACGGC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79888370	A A	ATCCTCCT others(32): Show ATCCTCCTCATGAGGCCGCGGTGGGGCCGGGACGGCGGCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(69): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00558.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01517.hp1 HG01928.hp2 HG01943.hp2 HG02040.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp2 HG02523.hp1 HG02602.hp2 HG02647.hp2 HG02735.hp1 HG03017.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG03927.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18947.hp1 NA18949.hp1 NA18952.hp1 NA18957.hp2 NA18964.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18994.hp1 NA18997.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19056.hp1 NA19065.hp1 NA19067.hp2 NA19080.hp2 NA19089.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0006	a0001c0001 a0003c0006 a0004c0008 others(2): Show a0001c0001 a0003c0006 a0004c0008 a0005c0012 a0006c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0003c0006t0001 a0004c0008t0001 a0005c0012t0002 a0006c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(68): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0194 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0301 a0001c0001t0003g0127 a0001c0001t0008g0124 a0003c0006t0001g0005 a0003c0006t0001g0041 a0003c0006t0001g0070 a0003c0006t0001g0181 a0004c0008t0001g0042 a0005c0012t0002g0006 a0006c0010t0001g0278	72	185	0.3892	39	c.625 others(58): Show c.625-10526_625-10488dupCGGGACGGCGGCGTCCTCCTCATGAG GCCGCGGTGGGGC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79888406	G G	GGCGTCCT others(32): Show GGCGTCCTCCTCATGAGGCCGCGGTGGGGCCGGGACGGCA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0077 a0001c0011t0001g0077	1	310	0.0032	39	c.625 others(58): Show c.625-10596_625-10595insAGCGTCCTCCTCATGAGGCCGCGGTG GGGCCGGGACGGC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79888495	C C	CATGAGGC others(32): Show CATGAGGCCGCGGTGGGGCCGGGACGGCGGCGTCCTCCTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02293.hp2 HG02300.hp2 others(13): Show HG00597.hp2 HG02293.hp2 HG02300.hp2 HG02723.hp2 HG03453.hp2 HG03492.hp1 HG03704.hp2 HG03710.hp1 HG04184.hp1 NA18940.hp1 NA18955.hp1 NA18959.hp1 NA18983.hp2 NA18990.hp2 NA19011.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0125 others(13): Show a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0156 a0001c0001t0001g0212 a0001c0001t0001g0223 a0001c0001t0001g0240 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0002g0192 a0001c0001t0003g0128 a0001c0001t0003g0262 a0001c0001t0003g0266	16	309	0.0518	39	c.625 others(58): Show c.625-10507_625-10506insTATGAGGCCGCGGTGGGGCCGGGACG GCGGCGTCCTCCT	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79888526	G G	GTCCTCCT others(32): Show GTCCTCCTCATGAGGCCGCGGTGGGGCCGGGACGGCGGCA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	303	0.0033	39	c.625 others(58): Show c.625-10488_625-10487insCGGGACGGCGGCATCCTCCTCATGAG GCCGCGGTGGGGC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNH1_chr1_210673314_211139148	210718540	A A	ATATATTT others(32): Show ATATATTTATATTTATATATATAAAATATATACATATATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01346.hp2 HG02293.hp2 HG00099.hp1 HG01346.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0002t0001g0115 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0002t0001g0115	3	133	0.0226	39	c.211 others(60): Show c.2113-34403_2113-34402insAATATATGTATATATTTTATATAT ATAAATATAAATATA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210806836	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	25	0.0400	39	c.146 others(58): Show c.1463-2671_1463-2670insATATATATATATATATATATATATAT ATATATATATATA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH5_chr14_62694464_63050458	62853456	C C	CATATATA others(32): Show CATATATATATATATATATATATATATATATATATATCAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	181	0.0055	39	c.137 others(58): Show c.1370-3605_1370-3604insATGATATATATATATATATATATATA TATATATATATAT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10			chr14	TogoVar
KCNH5_chr14_62694464_63050458	62853456	C C	CATATATA others(32): Show CATATATATATATATATATATATATATATATATATCATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	181	0.0055	39	c.137 others(58): Show c.1370-3605_1370-3604insATATGATATATATATATATATATATA TATATATATATAT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10			chr14	TogoVar
KCNH5_chr14_62694464_63050458	62853458	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19084.hp2 HG00609.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0015 a0002c0002t0004g0206 a0001c0001t0002g0015 a0002c0002t0004g0206	2	155	0.0129	39	c.137 others(58): Show c.1370-3607_1370-3606insGATATATATATATATATATATATATA TATATATATATAT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10			chr14	TogoVar
KCNH5_chr14_62694464_63050458	63024213	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0139 a0001c0001t0006g0139	1	207	0.0048	39	c.74- others(54): Show c.74-7260_74-7259insATATATATATATATATATATTTTTTTTTTT TTTTTTTTT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	1/10			chr14	TogoVar
KCNIP1_chr5_170499020_170741632	170503724	T T	TCACACAC others(32): Show TCACACACACACACACACACACACGCACGCACATCACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0026 a0001c0001t0007g0026	1	10	0.1000	39	c.-84 others(48): Show c.-849_-848insCACACACACACACACACACACACGCACGCACATCAC ACA	KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding		295		chr5	TogoVar
KCNIP4_chr4_20723606_21953772	21234236	T T	TATATTAT others(32): Show TATATTATATATAACATATATAACATATATTATATATAAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19030.hp1 HG02257.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0066 a0001c0001t0004g0067 a0001c0001t0001g0066 a0001c0001t0004g0067	2	53	0.0377	39	c.62- others(58): Show c.62-351528_62-351527insGTTATATATAATATATGTTATATATG TTATATATAATAT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ10_chr1_160032467_160075160	160049674	T T	TTTATATA others(32): Show TTTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0198 a0001c0001t0007g0198	1	401	0.0025	39	c.1-7 others(52): Show c.1-7181_1-7143dupTATATATATATATATATATATATATATATATA TATATAA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ6_chr21_37602373_37921457	37712753	C C	CCCTTTCT others(32): Show CCCTTTCTCTTCCCTCCCTCCTCCCCTCCTCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02572.hp2 others(4): Show HG01257.hp2 HG01258.hp2 HG02572.hp2 HG02818.hp1 HG02895.hp2 HG03453.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0140 a0001c0001t0169 a0001c0001t0171 others(4): Show a0001c0001t0140 a0001c0001t0169 a0001c0001t0171 a0001c0001t0172 a0001c0001t0173 a0002c0005t0167 a0002c0005t0168	a0001c0001t0140g0019 a0001c0001t0169g0166 a0001c0001t0171g0015 others(4): Show a0001c0001t0140g0019 a0001c0001t0169g0166 a0001c0001t0171g0015 a0001c0001t0172g0146 a0001c0001t0173g0099 a0002c0005t0167g0136 a0002c0005t0168g0135	7	150	0.0467	39	c.946 others(56): Show c.946+1457_946+1458insAGGAGGGAGGAGGAGGGGAGGAGGGAGG GAAGAGAAAGG	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNK2_chr1_215077737_215242090	215230559	C C	CATATATA others(32): Show CATATATATATATATATATATATACACATAACAGCCATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02451.hp2 others(6): Show HG02109.hp1 HG02280.hp2 HG02451.hp2 HG02622.hp2 HG02922.hp1 HG02965.hp2 HG03209.hp1 HG03516.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0024 a0001c0001t0025 others(2): Show a0001c0001t0013 a0001c0001t0024 a0001c0001t0025 a0001c0001t0037 a0001c0001t0062	a0001c0001t0013g0127 a0001c0001t0013g0134 a0001c0001t0013g0152 others(6): Show a0001c0001t0013g0127 a0001c0001t0013g0134 a0001c0001t0013g0152 a0001c0001t0024g0131 a0001c0001t0025g0123 a0001c0001t0025g0132 a0001c0001t0025g0244 a0001c0001t0037g0122 a0001c0001t0062g0130	9	113	0.0796	39	c.964 others(56): Show c.964-4252_964-4251insTATATACACATAACAGCCATATATATAT ATATATATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0021 a0001c0001t0007g0021	1	222	0.0045	39	c.-12 others(50): Show c.-1284_-1283insATATATATATATATATATATTTTTTTTTTTTTTT TTTTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB2_chr3_178531436_178849429	178758872	G G	GAGATATA others(32): Show GAGATATATATATATATATATATATCTCCTCTTGGAGATA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0192 a0001c0002t0001g0192	1	109	0.0092	39	c.-67 others(58): Show c.-67-48471_-67-48470insAGATATATATATATATATATATATCT CCTCTTGGAGATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758976	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0109 a0001c0001t0004g0109	1	218	0.0046	39	c.-67 others(58): Show c.-67-48345_-67-48344insATATATCTCCAAGAGGGATATATATA TATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759054	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	229	0.0044	39	c.-67 others(58): Show c.-67-48265_-67-48264insATATCTCCAAGAGGGATATATATATA TATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63395925	G G	GTGGAGGG others(32): Show GTGGAGGGGCTGCAGCAGGAGGTGCGGGCCCAGTGGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00642.hp2 HG01346.hp2 others(7): Show HG00408.hp2 HG00642.hp2 HG01346.hp2 HG01361.hp1 HG02257.hp2 HG03225.hp1 HG03579.hp2 NA18964.hp1 NA18964.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0012 a0002c0001 a0002c0006	a0001c0002t0020 a0001c0003t0091 a0001c0004t0060 others(6): Show a0001c0002t0020 a0001c0003t0091 a0001c0004t0060 a0001c0004t0080 a0001c0012t0084 a0001c0012t0097 a0002c0001t0001 a0002c0001t0019 a0002c0006t0016	a0001c0002t0020g0002 a0001c0003t0091g0265 a0001c0004t0060g0164 others(6): Show a0001c0002t0020g0002 a0001c0003t0091g0265 a0001c0004t0060g0164 a0001c0004t0080g0059 a0001c0012t0084g0235 a0001c0012t0097g0321 a0002c0001t0001g0212 a0002c0001t0019g0092 a0002c0006t0016g0316	10	320	0.0313	39	c.10 others(52): Show c.10718_*10719insACCTCCACTGGGCCCGCACCTCCTGCTGCAGC CCCTCCA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding		4282		chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63415538	C C	CCGAGCAC others(32): Show CCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0046 a0002c0001t0046	a0002c0001t0046g0221 a0002c0001t0046g0221	1	276	0.0036	39	c.130 others(56): Show c.1302-413_1302-412insCCCCGTGGCCTCCCCTCCCTCCCTCCCG CCGGGTGCTCG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	12/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442635	C C	CCACCACC others(32): Show CCACCACCATCACCACCACCACCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0016 a0002c0006t0016	a0002c0006t0016g0295 a0002c0006t0016g0295	1	328	0.0030	39	c.691 others(54): Show c.691-105_691-104insATGGTGATGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ5_chr6_72617064_73203853	72658578	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0077 a0001c0003t0015g0077	1	61	0.0164	39	c.398 others(58): Show c.398+35992_398+35993insATATATATATATATATATATATATAT ATATATTTTTTTT	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0014 a0002c0008t0001g0014	1	29	0.0345	39	c.269 others(58): Show c.2697+1408_2697+1409insATATATATATATATATATATATATAT TTTTTTTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCTD16_chr5_144165873_144490686	144452146	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0075 a0001c0001t0007g0075	1	131	0.0076	39	c.833 others(58): Show c.833-21514_833-21513insATATATATATATATATATATATATAT ATATATATATATA	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3			chr5	TogoVar
KCTD16_chr5_144165873_144490686	144466947	T T	TACTATAT others(32): Show TACTATATATATTATATATATTATATATAATATATATAAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	87	0.0115	39	c.833 others(56): Show c.833-6664_833-6626dupATTATATATATTATATATAATATATATA ACACTATATAT	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KDM1B_chr6_18150422_18228854	18208628	T T	TATATATA others(32): Show TATATATATATATATATATATATATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0365 a0001c0004t0001g0365	1	303	0.0033	39	c.186 others(56): Show c.1866+422_1866+423insATATATATATATATATATATATATGTAT ATATATATATA	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21			chr6	TogoVar
KDM4B_chr19_4964113_5158598	5043881	T T	TGTGTTTA others(32): Show TGTGTTTATCGGAGTGGGGGTGTCCACCTTATCCCGCGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03130.hp2 HG03471.hp2 HG01109.hp2 HG03130.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0006 a0001c0001t0022	a0001c0001t0006g0060 a0001c0001t0006g0062 a0001c0001t0022g0061 a0001c0001t0006g0060 a0001c0001t0006g0062 a0001c0001t0022g0061	3	268	0.0112	39	c.432 others(56): Show c.432+2657_432+2695dupCTTATCCCGCGTGGTGTTTATCGGAGTG GGGGTGTCCAC	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4B_chr19_4964113_5158598	5043919	T T	TGGTGTTT others(32): Show TGGTGTTTATCGGAGTGGGGGTGTCCACCTTATCCCGCGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0004 a0003c0011t0004	a0003c0011t0004g0253 a0003c0011t0004g0253	1	268	0.0037	39	c.432 others(56): Show c.432+2695_432+2696insCTTATCCCGCGCGGTGTTTATCGGAGTG GGGGTGTCCAC	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4B_chr19_4964113_5158598	5044151	C C	CGGTGTTT others(32): Show CGGTGTTTATCGGAGTGGGGGTGTCCACCTTATCCCGCGT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0023 a0001c0007t0023	a0001c0007t0023g0158 a0001c0007t0023g0158	1	255	0.0039	39	c.432 others(56): Show c.432+2919_432+2920insGTGTCCACCTTATCCCGCGTGGTGTTTA TCGGAGTGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4C_chr9_6752973_7180648	7052909	G G	GAGCGAGC others(32): Show GAGCGAGCGAGTGAGAGATTGTTGTACAGTGGGGTGCTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	114	0.0088	39	c.242 others(58): Show c.2424+3709_2424+3710insAGCGAGCGAGTGAGAGATTGTTGTAC AGTGGGGTGCTTT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	17/21			chr9	TogoVar
KHDRBS2_chr6_61674961_62291225	61983237	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0086 a0001c0001t0009g0086	1	191	0.0052	39	c.337 others(56): Show c.337-5026_337-5025insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAA	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	3/8			chr6	TogoVar
KHSRP_chr19_6408102_6429811	6428455	T T	TGAGAAAT others(32): Show TGAGAAATGAAAATATATATGTATACATATATATAGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0013 a0001c0001t0009g0013	1	384	0.0026	39	c.-37 others(50): Show c.-3793_-3755dupTATACTATATATATGTATACATATATATTTTCAT TTCTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		3645		chr19	TogoVar

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