Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KANK1_chr9_499695_751103	747313	GGAGAGAG others(30): Show GGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG02280.hp1 HG02280.hp2 others(2): Show HG00741.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 NA21309.hp1	a0004 a0014 a0017 others(1): Show a0004 a0014 a0017 a0018	a0004c0020 a0014c0012 a0017c0024 others(1): Show a0004c0020 a0014c0012 a0017c0024 a0018c0017	a0004c0020t0007 a0014c0012t0002 a0014c0012t0012 others(2): Show a0004c0020t0007 a0014c0012t0002 a0014c0012t0012 a0017c0024t0007 a0018c0017t0007	a0004c0020t0007g0070 a0014c0012t0002g0072 a0014c0012t0012g0094 others(2): Show a0004c0020t0007g0070 a0014c0012t0002g0072 a0014c0012t0012g0094 a0017c0024t0007g0093 a0018c0017t0007g0078	5	108	0.0463	-37	c.20 others(48): Show c.2079_*2115delGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGT GTA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding		1211		chr9	TogoVar
KAT2B_chr3_20035446_20159404	20106987	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18975.hp2 NA19010.hp2 others(1): Show HG02922.hp2 NA18975.hp2 NA19010.hp2 NA19043.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0008 a0001c0002 a0007c0008	a0001c0002t0001 a0001c0002t0005 a0007c0008t0001 a0001c0002t0001 a0001c0002t0005 a0007c0008t0001	a0001c0002t0001g0325 a0001c0002t0001g0338 a0001c0002t0005g0205 others(1): Show a0001c0002t0001g0325 a0001c0002t0001g0338 a0001c0002t0005g0205 a0007c0008t0001g0037	4	328	0.0122	-37	c.852 others(54): Show c.852-4607_852-4571delATATATATATATATATATATATATATAT TTTTTTTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106989	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01167.hp1 HG01943.hp1 others(35): Show HG00597.hp1 HG01167.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02056.hp2 HG02273.hp1 HG02293.hp2 HG02523.hp1 HG02630.hp2 HG02717.hp1 HG03688.hp1 HG04184.hp2 HG04228.hp2 NA18944.hp1 NA18949.hp1 NA18952.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18968.hp2 NA18977.hp2 NA18982.hp1 NA18983.hp2 NA18994.hp1 NA19006.hp2 NA19010.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19082.hp1 NA19085.hp1 NA20905.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0009c0009 a0001c0002 a0009c0009	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0009c0009t0002	a0001c0002t0001g0073 a0001c0002t0001g0098 a0001c0002t0001g0099 others(35): Show a0001c0002t0001g0073 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0133 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0230 a0001c0002t0001g0241 a0001c0002t0001g0244 a0001c0002t0001g0354 a0001c0002t0002g0100 a0001c0002t0002g0164 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0323 a0001c0002t0002g0340 a0001c0002t0002g0341 a0001c0002t0002g0342 a0001c0002t0002g0343 a0001c0002t0002g0351 a0001c0002t0002g0352 a0001c0002t0002g0353 a0001c0002t0002g0359 a0001c0002t0005g0011 a0001c0002t0005g0013 a0001c0002t0006g0110 a0001c0002t0006g0171 a0001c0002t0006g0220 a0001c0002t0006g0221 a0001c0002t0006g0242 a0001c0002t0006g0267 a0001c0002t0006g0355 a0001c0002t0006g0356 a0001c0002t0006g0357 a0009c0009t0002g0243	38	323	0.1176	-37	c.852 others(54): Show c.852-4605_852-4569delATATATATATATATATATATATATATTT TTTTTTTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106991	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18979.hp1 HG03710.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0144 a0001c0002t0002g0349 a0001c0002t0001g0144 a0001c0002t0002g0349	2	340	0.0059	-37	c.852 others(54): Show c.852-4603_852-4567delATATATATATATATATATATATATTTTT TTTTTTTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAZN_chr1_14593685_15123043	14681621	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19079.hp1 NA18942.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0104 a0002c0002t0001g0116 a0002c0002t0001g0104 a0002c0002t0001g0116	2	146	0.0137	-37	c.226 others(56): Show c.226+82400_226+82436delATATATATATATATATATATATATAT ATATATATATT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14681637	ATATATAT others(30): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0065 a0002c0002t0029g0065	1	141	0.0071	-37	c.226 others(56): Show c.226+82416_226+82452delATATATATATATATATATATTTTTTT TTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918686	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	143	0.0070	-37	c.227 others(56): Show c.227-41996_227-41960delAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918688	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	141	0.0071	-37	c.227 others(56): Show c.227-41994_227-41958delAAAAAAAAAAAAAAAAAAATATATAT ATATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918690	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG01169.hp1 others(11): Show HG00323.hp1 HG00558.hp2 HG01169.hp1 HG01516.hp2 HG02040.hp1 HG02109.hp2 HG02273.hp1 HG02486.hp2 HG02523.hp2 HG02615.hp1 HG03209.hp2 NA18970.hp2 NA18986.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0002 a0001c0001 a0001c0012 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0012t0006 a0002c0002t0001	a0001c0001t0002g0060 a0001c0001t0003g0135 a0001c0001t0004g0009 others(11): Show a0001c0001t0002g0060 a0001c0001t0003g0135 a0001c0001t0004g0009 a0001c0001t0008g0142 a0001c0001t0011g0118 a0001c0012t0006g0069 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0020 a0002c0002t0001g0055 a0002c0002t0001g0071 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107	14	145	0.0966	-37	c.227 others(56): Show c.227-41992_227-41956delAAAAAAAAAAAAAAAAATATATATAT ATATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918692	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(21): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG01258.hp1 HG01361.hp2 HG01891.hp2 HG02004.hp2 HG02523.hp1 HG02559.hp1 HG02738.hp1 HG03017.hp1 HG03017.hp2 HG03688.hp1 HG03927.hp1 HG04199.hp2 NA18963.hp1 NA18971.hp1 NA18971.hp2 NA18986.hp1 NA19005.hp2 NA19056.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0002c0002 others(3): Show a0001c0001 a0001c0008 a0002c0002 a0002c0004 a0002c0006 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0015 a0001c0001t0017 a0001c0001t0023 a0001c0008t0009 a0002c0002t0001 a0002c0002t0029 a0002c0002t0030 a0002c0004t0001 a0002c0006t0006 a0003c0005t0002	a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0075 others(21): Show a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0002g0026 a0001c0001t0003g0018 a0001c0001t0007g0021 a0001c0001t0015g0080 a0001c0001t0017g0023 a0001c0001t0023g0127 a0001c0008t0009g0120 a0002c0002t0001g0027 a0002c0002t0001g0038 a0002c0002t0001g0078 a0002c0002t0001g0114 a0002c0002t0029g0065 a0002c0002t0030g0076 a0002c0004t0001g0032 a0002c0004t0001g0113 a0002c0006t0006g0012 a0002c0006t0006g0112 a0003c0005t0002g0074 a0003c0005t0002g0091 a0003c0005t0002g0100	24	125	0.1920	-37	c.227 others(56): Show c.227-41990_227-41954delAAAAAAAAAAAAAAATATATATATAT ATATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918694	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	141	0.0071	-37	c.227 others(56): Show c.227-41988_227-41952delAAAAAAAAAAAAATATATATATATAT ATATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNIP4_chr4_20723606_21953772	21291862	AAAAAAAA others(30): Show AAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01433.hp1 HG01433.hp2 others(6): Show HG01123.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG02055.hp1 HG03239.hp2 HG03654.hp1 NA18948.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0004 a0001c0002t0008	a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0002g0076 others(6): Show a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0002g0076 a0001c0001t0003g0061 a0001c0001t0004g0041 a0001c0002t0001g0009 a0001c0002t0001g0040 a0001c0002t0004g0048 a0001c0002t0008g0047	9	73	0.1233	-37	c.62- others(56): Show c.62-409190_62-409154delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTTTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21291866	AAAAAGAA others(30): Show AAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02056.hp2 HG03516.hp2 others(1): Show HG01243.hp2 HG02056.hp2 HG03516.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0012 a0001c0001t0002g0063 a0001c0001t0003g0030 others(1): Show a0001c0001t0001g0012 a0001c0001t0002g0063 a0001c0001t0003g0030 a0001c0002t0001g0052	4	71	0.0563	-37	c.62- others(56): Show c.62-409194_62-409158delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ6_chr21_37602373_37921457	37712621	CTCCTCTT others(30): Show CTCCTCTTCCCTCCCTCCTCCCCTTCTCCTCCTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp1 HG01175.hp2 others(22): Show HG00544.hp1 HG00639.hp1 HG01175.hp2 HG01891.hp1 HG01975.hp2 HG02280.hp1 HG02486.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03540.hp1 NA18522.hp1 NA18522.hp2 NA18957.hp2 NA18963.hp1 NA19012.hp2 NA19030.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0014 a0001c0001t0027 others(22): Show a0001c0001t0012 a0001c0001t0014 a0001c0001t0027 a0001c0001t0040 a0001c0001t0067 a0001c0001t0072 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0088 a0001c0001t0090 a0001c0001t0092 a0001c0001t0095 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0103 a0001c0001t0124 a0001c0001t0135 a0001c0001t0164 a0001c0001t0175 a0001c0001t0176 a0001c0001t0180 a0001c0001t0185 a0001c0002t0160	a0001c0001t0012g0002 a0001c0001t0014g0159 a0001c0001t0027g0124 others(22): Show a0001c0001t0012g0002 a0001c0001t0014g0159 a0001c0001t0027g0124 a0001c0001t0040g0129 a0001c0001t0067g0118 a0001c0001t0072g0054 a0001c0001t0083g0164 a0001c0001t0084g0007 a0001c0001t0086g0006 a0001c0001t0088g0150 a0001c0001t0090g0144 a0001c0001t0092g0187 a0001c0001t0095g0039 a0001c0001t0097g0138 a0001c0001t0098g0163 a0001c0001t0099g0137 a0001c0001t0103g0063 a0001c0001t0124g0180 a0001c0001t0135g0073 a0001c0001t0164g0017 a0001c0001t0175g0029 a0001c0001t0176g0128 a0001c0001t0180g0141 a0001c0001t0185g0195 a0001c0002t0160g0151	25	183	0.1366	-37	c.946 others(54): Show c.946+1553_946+1589delAGGAGAGGAGGAGAAGGGGAGGAGGGAG GGAAGAGGA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNK13_chr14_90056994_90190853	90143166	TCTTTCTT others(30): Show TCTTTCTTTCTTTTCTTTTCTTTTCTTTCTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02083.hp2 HG02132.hp2 others(3): Show HG00733.hp2 HG02083.hp2 HG02132.hp2 HG02630.hp2 HG04228.hp2 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0103 a0001c0001t0003g0060 a0001c0001t0003g0300 others(3): Show a0001c0001t0001g0103 a0001c0001t0003g0060 a0001c0001t0003g0300 a0002c0002t0001g0127 a0002c0002t0001g0233 a0002c0002t0001g0267	6	318	0.0189	-37	c.335 others(56): Show c.335-40944_335-40908delCTTTCTTTCTTTTCTTTTCTTTTCTT TCTTTCTTTTC	KCNK13	ENSG00000152315.5	transcript	ENST00000282146.5	protein_coding	1/1			chr14	TogoVar
KCNK15_chr20_44740865_44757313	44752127	CCACCTCA others(30): Show CCACCTCACAGGCTCGGCGTCGGGTGAGCTCGTGGACG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0007 a0001c0001t0011g0007	1	420	0.0024	-37	c.12 others(48): Show c.1291_*1327delACCTCACAGGCTCGGCGTCGGGTGAGCTCGTGGA CGC	KCNK15	ENSG00000124249.7	transcript	ENST00000372861.5	protein_coding	2/2	1291	INFO_REALIGN_3_PRIME	chr20	TogoVar
KCNK6_chr19_38314845_38337076	38335985	GGGGAAAG others(30): Show GGGGAAAGAGGGGAAGAGTCGTGGGAGCTGGGAGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00733.hp2 HG01106.hp1 others(20): Show HG00673.hp1 HG00733.hp2 HG01106.hp1 HG02080.hp1 HG02109.hp1 HG03130.hp1 HG03516.hp2 HG03654.hp1 NA18939.hp1 NA18946.hp2 NA18951.hp2 NA18955.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18980.hp1 NA18983.hp2 NA19011.hp1 NA19012.hp1 NA19060.hp2 NA19063.hp2 NA19077.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0004 a0001c0005t0055 a0001c0005t0063 others(4): Show a0001c0001t0004 a0001c0005t0055 a0001c0005t0063 a0001c0005t0064 a0001c0005t0066 a0001c0005t0072 a0002c0002t0020	a0001c0001t0004g0006 a0001c0001t0004g0032 a0001c0001t0004g0033 others(7): Show a0001c0001t0004g0006 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0005t0055g0014 a0001c0005t0063g0014 a0001c0005t0064g0014 a0001c0005t0066g0014 a0001c0005t0072g0051 a0002c0002t0020g0021	23	396	0.0581	-37	c.85 others(48): Show c.8583_*8619delGGGAAAGAGGGGAAGAGTCGTGGGAGCTGGGAGA GGA	KCNK6	ENSG00000099337.5	transcript	ENST00000263372.5	protein_coding		3910		chr19	TogoVar
KCNN4_chr19_43761533_43785973	43780463	CCCCTCCT others(30): Show CCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCTCAGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(103): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01106.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0003t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(74): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0002g0049 a0001c0001t0002g0209 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0231 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0006g0243 a0001c0001t0009g0059 a0001c0001t0012g0244 a0001c0003t0001g0257 a0003c0004t0001g0266	106	429	0.2471	-37	c.159 others(52): Show c.159+203_159+239delACTGAGGGCCTGGACTCCTGGGTCTGAGGG AGGAGGG	KCNN4	ENSG00000104783.15	transcript	ENST00000648319.1	protein_coding	1/8			chr19	TogoVar
KCNN4_chr19_43761533_43785973	43780537	TCCCTCCT others(30): Show TCCCTCCTCCCTCAGACCCAGGAGTCCTGACCCTCAGC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	335	0.0030	-37	c.159 others(52): Show c.159+129_159+165delGCTGAGGGTCAGGACTCCTGGGTCTGAGGG AGGAGGG	KCNN4	ENSG00000104783.15	transcript	ENST00000648319.1	protein_coding	1/8			chr19	TogoVar
KCNQ3_chr8_132115861_132486095	132219890	CTTCCATT others(30): Show CTTCCATTTTACAGATGAGAAAAATGAGTCCCAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02922.hp1 HG03130.hp1 HG01169.hp2 HG02922.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0062 a0001c0001t0078 a0001c0001t0036 a0001c0001t0062 a0001c0001t0078	a0001c0001t0036g0032 a0001c0001t0062g0099 a0001c0001t0078g0125 a0001c0001t0036g0032 a0001c0001t0062g0099 a0001c0001t0078g0125	3	176	0.0170	-37	c.387 others(56): Show c.387-33746_387-33710delCTCTCTGGGACTCATTTTTCTCATCT GTAAAATGGAA	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCTD20_chr6_36438000_36496141	36487606	CTAACTTC others(30): Show CTAACTTCTAAAAGCAGACACCAATCGGATGCTCATTA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0329 a0001c0001t0022g0329	1	364	0.0027	-37	c.43 others(46): Show c.432_*468delTAACTTCTAAAAGCAGACACCAATCGGATGCTCATT A	KCTD20	ENSG00000112078.14	transcript	ENST00000373731.7	protein_coding	8/8	432		chr6	TogoVar
KDELR1_chr19_48377575_48396551	48389969	ACCCCTCC others(30): Show ACCCCTCCTCCCTCAGACCCTGGAGTCCAGGCCCCCAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	429	0.0023	-37	c.193 others(52): Show c.193-295_193-259delCTGGGGGCCTGGACTCCAGGGTCTGAGGGA GGAGGGG	KDELR1	ENSG00000105438.9	transcript	ENST00000330720.7	protein_coding	2/4			chr19	TogoVar
KDELR1_chr19_48377575_48396551	48389989	TGGAGTCC others(30): Show TGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCA	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	424	0.0024	-37	c.193 others(52): Show c.193-315_193-279delTGGGTCTGAGGGAGGAGGGGCTGGGGGCCT GGACTCC	KDELR1	ENSG00000105438.9	transcript	ENST00000330720.7	protein_coding	2/4			chr19	TogoVar
KDELR1_chr19_48377575_48396551	48392002	CCTCCTCC others(30): Show CCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	430	0.0023	-37	c.-68 others(46): Show c.-681_-645delAGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA G	KDELR1	ENSG00000105438.9	transcript	ENST00000330720.7	protein_coding		452		chr19	TogoVar
KDM2A_chr11_67114263_67263082	67168583	ACACACAC others(30): Show ACACACACACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG01099.hp2 others(17): Show HG00733.hp1 HG00735.hp1 HG01099.hp2 HG01175.hp1 HG01192.hp2 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02056.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02886.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 NA18948.hp1 NA18950.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0066 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0150 a0001c0001t0002g0147 a0001c0001t0002g0154 a0001c0001t0002g0157 a0001c0002t0001g0050	20	77	0.2597	-37	c.43- others(54): Show c.43-11495_43-11459delCACACACACACACACACACACACACACA CACACACAC	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	2/20			chr11	TogoVar
KDM2A_chr11_67114263_67263082	67247032	TTATTTTA others(30): Show TTATTTTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02083.hp1 NA18612.hp2 others(2): Show HG00642.hp1 HG02083.hp1 NA18612.hp2 NA18950.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0008 a0001c0005t0001 a0001c0001t0001 a0001c0001t0008 a0001c0005t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0057 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0008g0060 a0001c0005t0001g0062	5	218	0.0229	-37	c.196 others(54): Show c.1965+923_1965+959delATATATATATATATATATATATATATAT ATATATTTT	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM4C_chr9_6752973_7180648	6798776	TGGCCGGG others(30): Show TGGCCGGGCAGAGGGGCTCCTCACTTCCCCGTAGGGGC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0247 a0003c0004t0001g0247	1	264	0.0038	-37	c.144 others(54): Show c.144+5658_144+5694delGGCTCCTCACTTCCCCGTAGGGGCGGCC GGGCAGAGG	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM5B_chr1_202719495_202813421	202740012	GGCCGGGC others(30): Show GGCCGGGCAGAGGAGCTCCTCACATCCCAGTAGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	380	0.0026	-37	c.308 others(54): Show c.3084+625_3084+661delTGCCCCTACTGGGATGTGAGGAGCTCCT CTGCCCGGC	KDM5B	ENSG00000117139.18	transcript	ENST00000367265.9	protein_coding	20/26			chr1	TogoVar
KDM6A_chrX_44868188_45117779	45040572	CGGGCAGA others(30): Show CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02258.hp1 HG02451.hp1 others(5): Show HG01934.hp1 HG02258.hp1 HG02451.hp1 HG02622.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 others(5): Show a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198	8	197	0.0406	-37	c.654 others(54): Show c.654+2886_654+2922delGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGG	KDM6A	ENSG00000147050.18	transcript	ENST00000611820.5	protein_coding	8/29		INFO_REALIGN_3_PRIME	chrX	TogoVar
KIAA0930_chr22_45187244_45245894	45228826	TCACCACT others(30): Show TCACCACTCACCCGAAAGATCCCTCTTCACCCCCCAAC	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18967.hp2 NA19000.hp2 NA18962.hp1 NA18967.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0018 a0001c0001t0026 a0001c0001t0011 a0001c0001t0018 a0001c0001t0026	a0001c0001t0011g0148 a0001c0001t0018g0149 a0001c0001t0026g0105 a0001c0001t0011g0148 a0001c0001t0018g0149 a0001c0001t0026g0105	3	324	0.0093	-37	c.64+ others(54): Show c.64+11777_64+11813delGTTGGGGGGTGAAGAGGGATCTTTCGGG TGAGTGGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1549L_chr11_33371108_33679102	33530425	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03834.hp2 HG02735.hp2 HG03834.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0002 a0001c0029t0053 a0001c0029t0002 a0001c0029t0053	a0001c0029t0002g0128 a0001c0029t0053g0209 a0001c0029t0002g0128 a0001c0029t0053g0209	2	203	0.0099	-37	c.239 others(56): Show c.239-11375_239-11339delAAAAAAAAAAATATATATATATATAT ATATATATATA	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33614552	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0139 a0001c0013t0002g0139	1	221	0.0045	-37	c.528 others(56): Show c.5280-3979_5280-3943delATATATATATATATATATATATATAT ATATATTTTTT	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIF15_chr3_44756794_44858256	44821389	GGCTCCTC others(30): Show GGCTCCTCACTTCTCAGACGGGGCGGTCGGGCAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01070.hp2 HG01071.hp1 others(16): Show HG00099.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01255.hp1 HG01943.hp2 HG01993.hp1 HG02056.hp2 HG02148.hp1 HG02273.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02922.hp2 NA18522.hp1 NA18948.hp2 NA18964.hp2 NA18981.hp1 NA20129.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0001c0014 a0008c0013 a0001c0003 a0001c0014 a0008c0013	a0001c0003t0001 a0001c0014t0001 a0008c0013t0001 a0001c0003t0001 a0001c0014t0001 a0008c0013t0001	a0001c0003t0001g0005 a0001c0003t0001g0081 a0001c0003t0001g0101 others(15): Show a0001c0003t0001g0005 a0001c0003t0001g0081 a0001c0003t0001g0101 a0001c0003t0001g0102 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0110 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0117 a0001c0003t0001g0216 a0001c0014t0001g0080 a0008c0013t0001g0106 a0008c0013t0001g0109	19	230	0.0826	-37	c.255 others(56): Show c.2550-4642_2550-4606delACTTCTCAGACGGGGCGGTCGGGCAG AGACGCTCCTC	KIF15	ENSG00000163808.17	transcript	ENST00000326047.9	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF15_chr3_44756794_44858256	44821472	TCACATCC others(30): Show TCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCC	T T	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0113 a0001c0003t0001g0113	1	230	0.0043	-37	c.255 others(56): Show c.2550-4560_2550-4524delCCAGACGGGGCGGCGGGGCAGAGGCG CTCCCCACATC	KIF15	ENSG00000163808.17	transcript	ENST00000326047.9	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF26B_chr1_245149985_245714432	245335984	GGTCCCAC others(30): Show GGTCCCACGCAGGGAAAGGAGAGTCCCACGCAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02257.hp2 HG02559.hp1 others(5): Show HG01981.hp2 HG02257.hp2 HG02559.hp1 HG02818.hp1 HG03139.hp1 HG03453.hp2 HG03516.hp1 NA19240.hp1	a0001 a0007 a0021 a0001 a0007 a0021	a0001c0001 a0001c0002 a0001c0016 others(2): Show a0001c0001 a0001c0002 a0001c0016 a0007c0018 a0021c0043	a0001c0001t0067 a0001c0001t0087 a0001c0002t0001 others(5): Show a0001c0001t0067 a0001c0001t0087 a0001c0002t0001 a0001c0002t0054 a0001c0002t0078 a0001c0016t0044 a0007c0018t0023 a0021c0043t0039	a0001c0001t0067g0013 a0001c0001t0087g0088 a0001c0002t0001g0110 others(5): Show a0001c0001t0067g0013 a0001c0001t0087g0088 a0001c0002t0001g0110 a0001c0002t0054g0101 a0001c0002t0078g0005 a0001c0016t0044g0129 a0007c0018t0023g0157 a0021c0043t0039g0134	8	160	0.0500	-37	c.466 others(56): Show c.466-30829_466-30793delAGTCCCACGCAGGGAGAGTCCCACGC AGGGAAAGGAG	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245374075	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0044 a0002c0006t0002g0044	1	149	0.0067	-37	c.999 others(54): Show c.999+6710_999+6746delAAAAAAAAAAAAAAAAAAATATATATAT ATATATATA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245374077	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0084 a0001c0001t0011g0084	1	156	0.0064	-37	c.999 others(54): Show c.999+6712_999+6748delAAAAAAAAAAAAAAAAATATATATATAT ATATATATA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245374083	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03041.hp2 HG02622.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0048 a0001c0007t0035 a0001c0004t0048 a0001c0007t0035	a0001c0004t0048g0138 a0001c0007t0035g0130 a0001c0004t0048g0138 a0001c0007t0035g0130	2	153	0.0131	-37	c.999 others(54): Show c.999+6718_999+6754delAAAAAAAAAAATATATATATATATATAT ATATATATA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF3C_chr2_25921598_25987497	25962983	TATATAAT others(30): Show TATATAATATATATAATATATAATATATAATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	233	0.0043	-37	c.154 others(56): Show c.1546-6576_1546-6540delTATATATATTATATATTATATATTAT ATATATTATAT	KIF3C	ENSG00000084731.15	transcript	ENST00000264712.8	protein_coding	1/7			chr2	TogoVar
KIF4A_chrX_70285104_70425886	70349049	TGGCCGGG others(30): Show TGGCCGGGCAGAGGCGCTCCTCACCTCCCAGAGGGGGC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG03486.hp2 HG02280.hp1 HG02559.hp1 HG03486.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0015 a0001c0006t0001g0016 a0001c0006t0001g0017 a0001c0006t0001g0015 a0001c0006t0001g0016 a0001c0006t0001g0017	3	257	0.0117	-37	c.143 others(56): Show c.1432-3519_1432-3483delGGGGGCGGCCGGGCAGAGGCGCTCCT CACCTCCCAGA	KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	13/30		INFO_REALIGN_3_PRIME	chrX	TogoVar
KIF4A_chrX_70285104_70425886	70393832	TCTTTCTT others(30): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02074.hp1 HG02155.hp1 others(7): Show HG02040.hp1 HG02074.hp1 HG02155.hp1 HG02165.hp2 NA18747.hp1 NA18946.hp1 NA18947.hp1 NA18973.hp2 NA19079.hp1 NA19082.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0002 a0001c0001t0002 a0003c0005t0002	a0001c0001t0002g0063 a0003c0005t0002g0051 a0003c0005t0002g0053 others(7): Show a0001c0001t0002g0063 a0003c0005t0002g0051 a0003c0005t0002g0053 a0003c0005t0002g0054 a0003c0005t0002g0055 a0003c0005t0002g0056 a0003c0005t0002g0057 a0003c0005t0002g0058 a0003c0005t0002g0059 a0003c0005t0002g0061	10	257	0.0389	-37	c.223 others(56): Show c.2233-1838_2233-1802delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC	KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	20/30			chrX	TogoVar
KIF6_chr6_39324990_39730408	39337148	CTCTTTCT others(30): Show CTCTTTCTTTTCTTTCTTTCCTTCCTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0098 a0001c0007t0009g0098	1	172	0.0058	-37	c.242 others(54): Show c.2429-637_2429-601delAAGAAAGAAAGAAGGAAGGAAAGAAAGA AAAGAAAGA	KIF6	ENSG00000164627.18	transcript	ENST00000287152.12	protein_coding	22/22			chr6	TogoVar
KLHL15_chrX_23978720_24032186	23979569	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	283	0.0035	-37	c.83 others(48): Show c.8315_*8351delATATATATATATATATATTTTTTTTTTTTTTTTT TTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		4150		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23979573	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00642.hp1 others(15): Show HG00099.hp2 HG00323.hp1 HG00642.hp1 HG01081.hp1 HG01109.hp1 HG01261.hp1 HG01346.hp1 HG01928.hp1 HG01952.hp1 HG01981.hp1 HG02280.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG03225.hp1 HG03486.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0035 others(12): Show a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0004g0056 a0001c0001t0005g0003 a0001c0001t0005g0041 a0001c0001t0005g0050 a0001c0001t0005g0088 a0001c0001t0005g0091 a0001c0001t0005g0097 a0001c0001t0005g0107 a0001c0001t0005g0121 a0001c0001t0005g0128 a0001c0001t0005g0132 a0001c0001t0005g0138	18	278	0.0647	-37	c.83 others(48): Show c.8311_*8347delATATATATATATATATATATATTTTTTTTTTTTT TTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		4146		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23979575	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	278	0.0036	-37	c.83 others(48): Show c.8309_*8345delATATATATATATATATATATATATTTTTTTTTTT TTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		4144		chrX	TogoVar
KLHL17_chr1_955584_970719	964745	CGGGTCCG others(30): Show CGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	430	0.0023	-37	c.170 others(54): Show c.1700+216_1701-181delGGGTCCGCAGTGGGGATGTGCTGCCGGG AGGGGGGCG	KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding	11/11			chr1	TogoVar
KLHL7_chr7_23100785_23182914	23180756	CCAGCACA others(30): Show CCAGCACAAACCTGTAATCCAACAAAGTCAGATCTATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0026 a0001c0001t0052g0026	1	326	0.0031	-37	c.64 others(48): Show c.6459_*6495delCAGCACAAACCTGTAATCCAACAAAGTCAGATCT ATT	KLHL7	ENSG00000122550.18	transcript	ENST00000339077.10	protein_coding		2843		chr7	TogoVar
KLK10_chr19_51007739_51024709	51023675	GTGCCCAG others(30): Show GTGCCCAGCCTGCTATCCAATAAATGATTTATGTCAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	448	0.0022	-37	c.-40 others(48): Show c.-4095_-4059delACTGACATAAATCATTTATTGGATAGCAGGCTGG GCA	KLK10	ENSG00000129451.12	transcript	ENST00000358789.8	protein_coding		3967		chr19	TogoVar
KLK14_chr19_51072897_51087887	51079283	GAGACCCA others(30): Show GAGACCCAGGAGTCCAGGCCTCAGCCCCCTCCTCCCTC	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA20129.hp2 NA18906.hp2 NA20129.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0003 a0009c0011t0003	a0009c0011t0003g0028 a0009c0011t0003g0028	2	442	0.0045	-37	c.466 others(52): Show c.466+129_466+165delGAGGGAGGAGGGGGCTGAGGCCTGGACTCC TGGGTCT	KLK14	ENSG00000129437.11	transcript	ENST00000650543.2	protein_coding	4/5			chr19	TogoVar
KLK3_chr19_50849915_50865764	50865302	TTTTCTTT others(30): Show TTTTCTTTCCCTCTTTCTTTCTTTCTTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0005 a0002c0013t0005	a0002c0013t0005g0064 a0002c0013t0005g0064	1	410	0.0024	-37	c.51 others(48): Show c.5176_*5212delTTTCTTTCCCTCTTTCTTTCTTTCTTTTCTTTCT TTC	KLK3	ENSG00000142515.16	transcript	ENST00000326003.7	protein_coding		4539		chr19	TogoVar

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