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
KDM1B_chr6_18150422_18228854	18208603	G G	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0114 a0001c0003t0003g0114	1	392	0.0026	28	c.186 others(45): Show c.1866+398_1866+399insGTGTGTATATATATATATATATATATAT	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
KDM1B_chr6_18150422_18228854	18208627	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19086.hp1 NA19011.hp2 NA19086.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0020 a0001c0001 a0011c0020	a0001c0001t0001 a0011c0020t0003 a0001c0001t0001 a0011c0020t0003	a0001c0001t0001g0280 a0011c0020t0003g0365 a0001c0001t0001g0280 a0011c0020t0003g0365	2	392	0.0051	28	c.186 others(45): Show c.1866+422_1866+423insATATATATATATATATATATATATATTT	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
KDM4A_chr1_43645149_43710518	43647351	A A	AAAAAAAT others(21): Show AAAAAAATCTATCTATCTATCTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	370	0.0027	28	c.-29 others(39): Show c.-2941_-2940insAAAAAATCTATCTATCTATCTATCTATC	KDM4A	ENSG00000066135.13	transcript	ENST00000372396.4	protein_coding		2797		chr1	TogoVar
KDM4A_chr1_43645149_43710518	43649226	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01123.hp1 HG01515.hp1 others(6): Show HG00438.hp2 HG01123.hp1 HG01515.hp1 HG02257.hp2 HG02698.hp1 HG03225.hp1 HG03579.hp1 NA18982.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0114 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0114 a0001c0001t0001g0230 a0001c0001t0001g0247 a0001c0001t0001g0283 a0001c0001t0001g0294 a0001c0001t0001g0301	9	370	0.0243	28	c.-10 others(39): Show c.-1066_-1065insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	KDM4A	ENSG00000066135.13	transcript	ENST00000372396.4	protein_coding		922		chr1	TogoVar
KDM4B_chr19_4964113_5158598	5035880	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0006 a0001c0012t0006	a0001c0012t0006g0176 a0001c0012t0006g0176	1	270	0.0037	28	c.141 others(45): Show c.141+2850_141+2851insTGTGTGTGTGTGTGTGTGTGTGTGCGCG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4C_chr9_6752973_7180648	6919247	T T	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp2 HG03669.hp1 others(1): Show HG01175.hp1 HG01175.hp2 HG03669.hp1 HG03710.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0015	a0001c0002 a0002c0003 a0003c0004 others(1): Show a0001c0002 a0002c0003 a0003c0004 a0015c0026	a0001c0002t0018 a0002c0003t0003 a0003c0004t0001 others(1): Show a0001c0002t0018 a0002c0003t0003 a0003c0004t0001 a0015c0026t0002	a0001c0002t0018g0110 a0002c0003t0003g0251 a0003c0004t0001g0159 others(1): Show a0001c0002t0018g0110 a0002c0003t0003g0251 a0003c0004t0001g0159 a0015c0026t0002g0070	4	266	0.0150	28	c.921 others(47): Show c.921+26017_921+26018insCTTTCTTTCTTTCTTTCTTTCTTTTC TT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM5A_chr12_275057_394320	357827	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0308 a0001c0001t0014g0308	1	350	0.0029	28	c.673 others(45): Show c.673-1291_673-1290insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	KDM5A	ENSG00000073614.13	transcript	ENST00000399788.7	protein_coding	5/27			chr12	TogoVar
KDM5C_chrX_53187158_53230207	53208424	T T	TATATATA others(21): Show TATATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	241	0.0042	28	c.174 others(47): Show c.1746+1989_1746+1990insGTATGTGTATATATATATATATATAT AT	KDM5C	ENSG00000126012.13	transcript	ENST00000375401.8	protein_coding	12/25			chrX	TogoVar
KDM6A_chrX_44868188_45117779	44963499	C C	CTGTCTGT others(21): Show CTGTCTGTCTGTCTGTCTGTCTGTCTCTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02027.hp1 HG02523.hp1 others(15): Show HG00609.hp1 HG02027.hp1 HG02523.hp1 HG02738.hp1 HG03490.hp1 HG03831.hp2 NA18612.hp1 NA18940.hp1 NA18943.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18986.hp1 NA19000.hp1 NA19011.hp1 NA19055.hp1 NA19063.hp1 NA19068.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0008 a0002c0002 a0007c0008	a0002c0002t0001 a0007c0008t0008 a0002c0002t0001 a0007c0008t0008	a0002c0002t0001g0096 a0002c0002t0001g0100 a0002c0002t0001g0103 others(15): Show a0002c0002t0001g0096 a0002c0002t0001g0100 a0002c0002t0001g0103 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0146 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0158 a0002c0002t0001g0161 a0002c0002t0001g0163 a0007c0008t0008g0156	18	199	0.0905	28	c.334 others(45): Show c.334+2108_334+2109insGTCTGTCTGTCTGTCTGTCTGTCTCTGT	KDM6A	ENSG00000147050.18	transcript	ENST00000611820.5	protein_coding	3/29		INFO_REALIGN_3_PRIME	chrX	TogoVar
KDM6A_chrX_44868188_45117779	45042638	T T	TACTTCTC others(21): Show TACTTCTCTACATAGGAAGAAGTTTCCCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03490.hp1 HG03209.hp1 HG03490.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0106 a0002c0002t0001g0100 a0001c0001t0001g0106 a0002c0002t0001g0100	2	199	0.0101	28	c.654 others(45): Show c.654+5074_654+5101dupAGGAAGAAGTTTCCCCACTTCTCTACAT	KDM6A	ENSG00000147050.18	transcript	ENST00000611820.5	protein_coding	8/29		INFO_REALIGN_3_PRIME	chrX	TogoVar
KDM7A_chr7_140079746_140181983	140100660	T T	TTATATAT others(21): Show TTATATATATATATATACACATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	344	0.0029	28	c.163 others(45): Show c.1639-638_1639-637insTATATATATGTGTATATATATATATATA	KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	12/19			chr7	TogoVar
KDM7A_chr7_140079746_140181983	140100660	T T	TTATATAT others(21): Show TTATATATATATATATATATACATATATA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	344	0.0029	28	c.163 others(45): Show c.1639-665_1639-638dupTATATATGTATATATATATATATATATA	KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	12/19			chr7	TogoVar
KDM7A_chr7_140079746_140181983	140100713	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02129.hp2 NA19058.hp1 others(1): Show HG01975.hp1 HG02129.hp2 NA19058.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0190 others(1): Show a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0190 a0001c0001t0002g0200	4	344	0.0116	28	c.163 others(45): Show c.1639-691_1639-690insGTGTATATATATATATATATATATATAT	KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	12/19			chr7	TogoVar
KDM7A_chr7_140079746_140181983	140142033	A A	AAAAAGAT others(21): Show AAAAAGATATTTATATATCATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01257.hp1 others(6): Show HG00099.hp2 HG00735.hp2 HG01257.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG02717.hp2 HG02809.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0007 a0001c0001t0020 a0005c0006t0007 a0001c0001t0007 a0001c0001t0020 a0005c0006t0007	a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0007g0027 others(5): Show a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0020g0004 a0005c0006t0007g0023 a0005c0006t0007g0024	9	344	0.0262	28	c.195 others(45): Show c.195-2871_195-2844dupATATATATATGATATATAAATATCTTTT	KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	1/19			chr7	TogoVar
KHDRBS2_chr6_61674961_62291225	61842924	A A	ACTATCTG others(21): Show ACTATCTGTATAGATTACAGATAGATAAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG01074.hp1 others(16): Show HG00408.hp2 HG00438.hp1 HG01074.hp1 HG02056.hp2 HG02129.hp1 HG02723.hp2 HG03017.hp2 HG03831.hp2 NA18612.hp1 NA18945.hp2 NA18989.hp1 NA19003.hp1 NA19009.hp2 NA19057.hp1 NA19068.hp1 NA19070.hp1 NA19084.hp2 NA19086.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0011 others(1): Show a0001c0001 a0001c0004 a0001c0011 a0002c0006	a0001c0001t0002 a0001c0004t0002 a0001c0004t0004 others(3): Show a0001c0001t0002 a0001c0004t0002 a0001c0004t0004 a0001c0004t0018 a0001c0011t0004 a0002c0006t0004	a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0088 others(16): Show a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0104 a0001c0001t0002g0117 a0001c0004t0002g0141 a0001c0004t0002g0144 a0001c0004t0002g0150 a0001c0004t0002g0152 a0001c0004t0002g0160 a0001c0004t0002g0161 a0001c0004t0002g0162 a0001c0004t0002g0170 a0001c0004t0004g0235 a0001c0004t0004g0242 a0001c0004t0018g0241 a0001c0011t0004g0240 a0002c0006t0004g0187	19	244	0.0779	28	c.810 others(47): Show c.810+51683_810+51710dupATTATCTATCTGTAATCTATACAGAT AG	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	6/8			chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	61869964	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03139.hp1 HG02258.hp2 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0080 a0001c0003t0003g0083 a0001c0003t0003g0080 a0001c0003t0003g0083	2	244	0.0082	28	c.810 others(47): Show c.810+24670_810+24671insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	6/8			chr6	TogoVar
KHDRBS3_chr8_135452456_135652610	135481223	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA19043.hp1 HG01975.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0327 a0001c0001t0002g0328	2	342	0.0059	28	c.88+ others(45): Show c.88+23270_88+23297dupATATATATATATATATATATATATATAT	KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
KHDRBS3_chr8_135452456_135652610	135485842	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02109.hp1 HG02717.hp1 others(5): Show HG01993.hp2 HG02109.hp1 HG02717.hp1 HG02809.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0002g0189 others(5): Show a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0002g0189 a0001c0001t0002g0219 a0001c0001t0002g0325 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0003g0244	8	342	0.0234	28	c.88+ others(45): Show c.88+27915_88+27916insATATATATATATATATATATATATATAT	KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
KHDRBS3_chr8_135452456_135652610	135498379	A A	ATTTATCA others(21): Show ATTTATCAGGTCATTTATCAACCAGACCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01256.hp1 HG01358.hp2 HG01255.hp1 HG01256.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0006g0263	3	342	0.0088	28	c.89- others(45): Show c.89-22858_89-22857insTTTATCAGGTCATTTATCAACCAGACCT	KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	1/8			chr8	TogoVar
KHDRBS3_chr8_135452456_135652610	135630482	A A	AATGTATG others(21): Show AATGTATGTATGTATGTATGTATGTATGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG01070.hp1 others(20): Show HG00099.hp1 HG00544.hp2 HG01070.hp1 HG01081.hp1 HG01123.hp2 HG01934.hp2 HG02080.hp2 HG02293.hp1 NA18612.hp2 NA18939.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18963.hp2 NA18970.hp2 NA18978.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp2 NA19009.hp2 NA19064.hp1 NA19086.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 others(20): Show a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0313	23	342	0.0673	28	c.891 others(47): Show c.891-14555_891-14554insGTATGTATGTATGTATGTATGTATGT AT	KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
KHSRP_chr19_6408102_6429811	6429023	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0036 a0001c0004t0001g0036	1	386	0.0026	28	c.-43 others(39): Show c.-4323_-4322insTATATATATATATATATATATATATATA	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4213		chr19	TogoVar
KIAA0040_chr1_175151986_175197776	175194112	G G	GTTATTTA others(21): Show GTTATTTATTTATTTATTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG02015.hp2 HG03834.hp1 others(1): Show HG00621.hp2 HG02015.hp2 HG03834.hp1 NA19003.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0003 a0003c0003t0002 a0002c0002t0003 a0003c0003t0002	a0002c0002t0003g0103 a0003c0003t0002g0026 a0003c0003t0002g0055 others(1): Show a0002c0002t0003g0103 a0003c0003t0002g0026 a0003c0003t0002g0055 a0003c0003t0002g0057	4	394	0.0102	28	c.-18 others(39): Show c.-1857_-1856insATAAATAAATAAATAAATAAATAAATAA	KIAA0040	ENSG00000235750.10	transcript	ENST00000423313.6	protein_coding		1337		chr1	TogoVar
KIAA0040_chr1_175151986_175197776	175194958	T T	TCAGGGAC others(21): Show TCAGGGACTTATAGGTGGGCTGGATGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	394	0.0025	28	c.-27 others(39): Show c.-2703_-2702insCACCATCCAGCCCACCTATAAGTCCCTG	KIAA0040	ENSG00000235750.10	transcript	ENST00000423313.6	protein_coding		2183		chr1	TogoVar
KIAA0232_chr4_6777727_6889164	6778400	T T	TATAAGAA others(21): Show TATAAGAAAGGAGGGATAAGAAAGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	362	0.0028	28	c.-47 others(39): Show c.-4795_-4794insATAAGAAAGGAGGGATAAGAAAGGAGGG	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding		4326		chr4	TogoVar
KIAA0232_chr4_6777727_6889164	6867598	G G	GGGAATTT others(21): Show GGGAATTTCAGGCTTACTTGCTGTCTTCA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0043 a0011c0014t0043	a0011c0014t0043g0132 a0011c0014t0043g0132	1	362	0.0028	28	c.380 others(47): Show c.3801+3425_3801+3426insGCTTACTTGCTGTCTTCAGGAATTTC AG	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
KIAA0319_chr6_24539107_24651191	24579412	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02280.hp2 others(1): Show HG01891.hp2 HG02145.hp1 HG02280.hp2 NA19240.hp2	a0005 a0007 a0009 a0005 a0007 a0009	a0005c0006 a0007c0011 a0009c0009 a0005c0006 a0007c0011 a0009c0009	a0005c0006t0079 a0007c0011t0023 a0007c0011t0034 others(1): Show a0005c0006t0079 a0007c0011t0023 a0007c0011t0034 a0009c0009t0024	a0005c0006t0079g0130 a0007c0011t0023g0017 a0007c0011t0034g0143 others(1): Show a0005c0006t0079g0130 a0007c0011t0023g0017 a0007c0011t0034g0143 a0009c0009t0024g0097	4	300	0.0133	28	c.137 others(45): Show c.1372+445_1372+446insATATATATATATATATATATATATATAT	KIAA0319	ENSG00000137261.15	transcript	ENST00000378214.8	protein_coding	8/20			chr6	TogoVar
KIAA0319_chr6_24539107_24651191	24648659	G G	GAAAAAAA others(21): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01243.hp2 HG02056.hp2 others(4): Show HG00733.hp2 HG01243.hp2 HG02056.hp2 HG02922.hp2 HG03209.hp2 NA18952.hp1 NA18984.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0004 a0007c0015 others(1): Show a0001c0001 a0001c0004 a0007c0015 a0007c0036	a0001c0001t0005 a0001c0001t0058 a0001c0004t0004 others(2): Show a0001c0001t0005 a0001c0001t0058 a0001c0004t0004 a0007c0015t0008 a0007c0036t0008	a0001c0001t0005g0054 a0001c0001t0005g0069 a0001c0001t0005g0087 others(4): Show a0001c0001t0005g0054 a0001c0001t0005g0069 a0001c0001t0005g0087 a0001c0001t0058g0080 a0001c0004t0004g0012 a0007c0015t0008g0057 a0007c0036t0008g0076	7	300	0.0233	28	c.-30 others(39): Show c.-3030_-3029insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	KIAA0319	ENSG00000137261.15	transcript	ENST00000378214.8	protein_coding		2469		chr6	TogoVar
KIAA0586_chr14_58422719_58556297	58484890	T T	TTATATAT others(21): Show TTATATATATATATATATATTTTTATATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	300	0.0033	28	c.314 others(47): Show c.3145-2098_3145-2097insTTTTATATATATATATATATATATAT AT	KIAA0586	ENSG00000100578.18	transcript	ENST00000652326.2	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIAA0586_chr14_58422719_58556297	58484890	T T	TTATATAT others(21): Show TTATATATATATATTTATATATATTTTTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01515.hp2 HG01884.hp2 others(10): Show HG00323.hp1 HG01515.hp2 HG01884.hp2 HG02698.hp1 HG03942.hp2 HG04204.hp2 NA18612.hp2 NA18970.hp1 NA19009.hp1 NA19012.hp1 NA19062.hp2 NA19066.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0039	a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0048 others(10): Show a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0003g0086 a0001c0001t0004g0007 a0001c0001t0008g0049 a0001c0001t0010g0128 a0001c0001t0039g0224	13	300	0.0433	28	c.314 others(47): Show c.3145-2104_3145-2103insTTATATATATTTTTATATATATATAT AT	KIAA0586	ENSG00000100578.18	transcript	ENST00000652326.2	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIAA0586_chr14_58422719_58556297	58484924	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	300	0.0033	28	c.314 others(47): Show c.3145-2082_3145-2081insATATATATATATATATATATATTTTT TT	KIAA0586	ENSG00000100578.18	transcript	ENST00000652326.2	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIAA0586_chr14_58422719_58556297	58484924	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	300	0.0033	28	c.314 others(47): Show c.3145-2082_3145-2081insATATATATATATATATATTTTTTTTT TT	KIAA0586	ENSG00000100578.18	transcript	ENST00000652326.2	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIAA0825_chr5_94145851_94623604	94152855	A A	AAAAAAAA others(21): Show AAAAAAAAATTATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0029 a0001c0004t0033g0029	1	54	0.0185	28	c.11 others(39): Show c.1151_*1152insATATATATATATATATATAATTTTTTTT	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	21/21	1151		chr5	TogoVar
KIAA0825_chr5_94145851_94623604	94529405	C C	CTCATATA others(21): Show CTCATATATGTATATATCATATGTATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01099.hp1 others(8): Show HG00639.hp2 HG00642.hp2 HG01099.hp1 HG01261.hp1 HG02083.hp2 HG02132.hp2 HG02155.hp1 HG03654.hp2 HG03688.hp2 NA18906.hp2 NA19002.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0007 a0001c0010 others(4): Show a0001c0001 a0001c0007 a0001c0010 a0001c0013 a0003c0002 a0003c0006 a0005c0009	a0001c0001t0006 a0001c0001t0016 a0001c0001t0017 others(8): Show a0001c0001t0006 a0001c0001t0016 a0001c0001t0017 a0001c0001t0039 a0001c0007t0014 a0001c0010t0048 a0001c0013t0002 a0003c0002t0041 a0003c0002t0046 a0003c0006t0047 a0005c0009t0012	a0001c0001t0006g0050 a0001c0001t0016g0051 a0001c0001t0017g0046 others(8): Show a0001c0001t0006g0050 a0001c0001t0016g0051 a0001c0001t0017g0046 a0001c0001t0039g0048 a0001c0007t0014g0049 a0001c0010t0048g0008 a0001c0013t0002g0052 a0003c0002t0041g0047 a0003c0002t0046g0010 a0003c0006t0047g0009 a0005c0009t0012g0053	11	54	0.2037	28	c.132 others(45): Show c.132-5335_132-5308dupTATATACATATGATATATACATATATGA	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	3/20			chr5	TogoVar
KIAA1210_chrX_119073635_119132812	119125714	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0088 a0002c0002t0004g0088	1	261	0.0038	28	c.-11 others(45): Show c.-11+2012_-11+2013insATATATATATATATATATATATATATAT	KIAA1210	ENSG00000250423.3	transcript	ENST00000691062.1	protein_coding	1/11			chrX	TogoVar
KIAA1217_chr10_24204138_24552843	24390475	G G	GGGAGGGA others(21): Show GGGAGGGAGGGAAGGAAGGAAGGAAGGCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01243.hp2 HG02723.hp1 others(2): Show HG00597.hp1 HG01243.hp2 HG02723.hp1 HG03453.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0006 a0001c0016 a0002c0002 others(2): Show a0001c0006 a0001c0016 a0002c0002 a0003c0023 a0003c0027	a0001c0006t0001 a0001c0016t0002 a0002c0002t0002 others(2): Show a0001c0006t0001 a0001c0016t0002 a0002c0002t0002 a0003c0023t0002 a0003c0027t0004	a0001c0006t0001g0191 a0001c0016t0002g0042 a0002c0002t0002g0041 others(2): Show a0001c0006t0001g0191 a0001c0016t0002g0042 a0002c0002t0002g0041 a0003c0023t0002g0121 a0003c0027t0004g0043	5	240	0.0208	28	c.553 others(45): Show c.553+9411_553+9412insGGGAGGGAAGGAAGGAAGGAAGGCAGGA	KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA1217_chr10_24204138_24552843	24484241	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG02145.hp2 HG02615.hp2	a0001 a0003 a0001 a0003	a0001c0025 a0003c0059 a0001c0025 a0003c0059	a0001c0025t0003 a0003c0059t0001 a0001c0025t0003 a0003c0059t0001	a0001c0025t0003g0030 a0003c0059t0001g0132 a0001c0025t0003g0030 a0003c0059t0001g0132	2	240	0.0083	28	c.167 others(49): Show c.1679+10182_1679+10183insATATATATATATATATATTTTTTT TTTT	KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA1217_chr10_24204138_24552843	24520675	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18979.hp1 HG00558.hp2 NA18979.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0003c0012 a0001c0006 a0003c0012	a0001c0006t0003 a0003c0012t0001 a0001c0006t0003 a0003c0012t0001	a0001c0006t0003g0005 a0003c0012t0001g0100 a0001c0006t0003g0005 a0003c0012t0001g0100	2	240	0.0083	28	c.230 others(45): Show c.2308+423_2308+424insTATATATATATATATATATATATACACA	KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA1217_chr10_24204138_24552843	24520675	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0156 a0003c0012t0002g0156	1	240	0.0042	28	c.230 others(45): Show c.2308+423_2308+424insTATATATATATATATATATATATATACA	KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA1328_chr18_36824127_37230334	36883952	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02647.hp1 HG02897.hp2 others(2): Show HG01884.hp2 HG02647.hp1 HG02897.hp2 NA19001.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 a0002c0004t0006 a0002c0004t0014	a0001c0002t0001g0087 a0001c0002t0002g0030 a0001c0002t0011g0031 others(2): Show a0001c0002t0001g0087 a0001c0002t0002g0030 a0001c0002t0011g0031 a0002c0004t0006g0034 a0002c0004t0014g0037	5	200	0.0250	28	c.333 others(45): Show c.333-1587_333-1586insTATATATATATATATATATATATATATA	KIAA1328	ENSG00000150477.15	transcript	ENST00000280020.10	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIAA1328_chr18_36824127_37230334	36883952	G G	GTATATGT others(21): Show GTATATGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01261.hp1 HG01358.hp1 HG01192.hp1 HG01261.hp1 HG01358.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0004 a0001c0003t0003 a0001c0003t0004	a0001c0003t0003g0182 a0001c0003t0004g0185 a0001c0003t0004g0189 a0001c0003t0003g0182 a0001c0003t0004g0185 a0001c0003t0004g0189	3	200	0.0150	28	c.333 others(45): Show c.333-1600_333-1599insGTGTATATATATATATATATATATATAT	KIAA1328	ENSG00000150477.15	transcript	ENST00000280020.10	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIAA1549L_chr11_33371108_33679102	33430041	T T	TCCTTCCT others(21): Show TCCTTCCTCCCTTCCTTCCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02486.hp1 HG02630.hp1 others(1): Show HG01515.hp2 HG02486.hp1 HG02630.hp1 HG03139.hp2	a0001 a0001	a0001c0005 a0001c0011 a0001c0020 others(1): Show a0001c0005 a0001c0011 a0001c0020 a0001c0069	a0001c0005t0006 a0001c0011t0064 a0001c0020t0001 others(1): Show a0001c0005t0006 a0001c0011t0064 a0001c0020t0001 a0001c0069t0024	a0001c0005t0006g0110 a0001c0011t0064g0080 a0001c0020t0001g0100 others(1): Show a0001c0005t0006g0110 a0001c0011t0064g0080 a0001c0020t0001g0100 a0001c0069t0024g0225	4	226	0.0177	28	c.238 others(47): Show c.238+53166_238+53167insTTCCTCCCTTCCTCCCTTCCTCCCTT CC	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33430045	T T	TCCTTCCT others(21): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0060 a0001c0055t0060	a0001c0055t0060g0088 a0001c0055t0060g0088	1	226	0.0044	28	c.238 others(47): Show c.238+53159_238+53160insTCCTTCCTTCCTTCCTTCCTTCCTCC CT	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33435796	A A	ATATATAT others(21): Show ATATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0010 a0001c0013t0010	a0001c0013t0010g0102 a0001c0013t0010g0102	1	226	0.0044	28	c.238 others(47): Show c.238+58916_238+58917insGTGTGTGTGTGTGTGTGTGTATATAT AT	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33435810	A A	ATATGTGT others(21): Show ATATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0138 a0001c0013t0002g0138	1	226	0.0044	28	c.238 others(47): Show c.238+58922_238+58923insATGTGTGTGTGTGTGTGTGTGTGTGT GT	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33435816	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0020 a0020	a0020c0060 a0020c0060	a0020c0060t0002 a0020c0060t0002	a0020c0060t0002g0155 a0020c0060t0002g0155	1	226	0.0044	28	c.238 others(47): Show c.238+58930_238+58931insGTGTGTGTATATATATATATATATAT GT	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1671_chr22_24947716_25202448	25093824	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTGTCTCTC	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA20752.hp2 HG01515.hp1 NA20752.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0048 a0001c0035t0001g0055 a0001c0035t0001g0048 a0001c0035t0001g0055	2	254	0.0079	28	c.453 others(49): Show c.4530+44469_4530+44470insCTCTCTCTCTCTGTCTCTCTCTCT CTCT	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
KIAA2012_chr2_202068255_202210188	202133130	A A	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0021 a0021	a0021c0036 a0021c0036	a0021c0036t0001 a0021c0036t0001	a0021c0036t0001g0099 a0021c0036t0001g0099	1	312	0.0032	28	c.183 others(47): Show c.1832-5301_1832-5300insATATATATATATATATTTTTTTTTTT TT	KIAA2012	ENSG00000182329.14	transcript	ENST00000498697.3	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
KIAA2012_chr2_202068255_202210188	202133130	A A	ATATATAT others(21): Show ATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 NA19082.hp2 HG01515.hp1 HG01517.hp1 NA19082.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0070 a0006c0007t0001g0073 a0006c0007t0001g0074 a0006c0007t0001g0070 a0006c0007t0001g0073 a0006c0007t0001g0074	3	312	0.0096	28	c.183 others(47): Show c.1832-5301_1832-5300insATATATATATATTTTTTTTTTTTTTT TT	KIAA2012	ENSG00000182329.14	transcript	ENST00000498697.3	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
KIAA2026_chr9_5914022_6013482	5919543	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0255 a0001c0003t0027g0255	1	374	0.0027	28	c.11 others(37): Show c.113_*140dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	KIAA2026	ENSG00000183354.12	transcript	ENST00000399933.8	protein_coding	8/8	140		chr9	TogoVar
KIAA2026_chr9_5914022_6013482	5930369	T T	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0020 a0001c0002t0024g0020	1	374	0.0027	28	c.238 others(47): Show c.2383-1211_2383-1210insTATATATATATATATATATATATATA AA	KIAA2026	ENSG00000183354.12	transcript	ENST00000399933.8	protein_coding	5/7			chr9	TogoVar

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