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
KDM4C_chr9_6752973_7180648	6919223	C C	CTCTTCTT others(23): Show CTCTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0002 a0001c0060t0002	a0001c0060t0002g0210 a0001c0060t0002g0210	1	266	0.0038	30	c.921 others(49): Show c.921+25992_921+25993insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	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(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0310 a0001c0001t0014g0310	1	350	0.0029	30	c.673 others(47): Show c.673-1291_673-1290insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	KDM5A	ENSG00000073614.13	transcript	ENST00000399788.7	protein_coding	5/27			chr12	TogoVar
KDM5A_chr12_275057_394320	389548	A A	ACGGGGCG others(23): Show ACGGGGCGAGGCGGGGCGAGGCGGGGCGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG00639.hp1 others(60): Show HG00423.hp2 HG00621.hp2 HG00639.hp1 HG01099.hp1 HG01123.hp2 HG01261.hp1 HG01358.hp2 HG01496.hp2 HG01517.hp2 HG01934.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02735.hp2 HG02895.hp2 HG02970.hp2 HG03239.hp2 HG03579.hp2 HG03710.hp2 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18963.hp1 NA18967.hp2 NA18981.hp1 NA18982.hp1 NA18998.hp2 NA19003.hp1 NA19004.hp2 NA19012.hp1 NA19056.hp2 NA19058.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19085.hp2 NA19089.hp1 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0013 others(1): Show a0001 a0002 a0013 a0014	a0001c0001 a0001c0003 a0001c0010 others(3): Show a0001c0001 a0001c0003 a0001c0010 a0002c0002 a0013c0012 a0014c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0039 a0001c0001t0051 a0001c0001t0059 a0001c0003t0011 a0001c0003t0025 a0001c0003t0033 a0001c0010t0001 a0002c0002t0005 a0002c0002t0016 a0013c0012t0015 a0014c0021t0011	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 others(60): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0079 a0001c0001t0005g0319 a0001c0001t0008g0156 a0001c0001t0015g0344 a0001c0001t0015g0345 a0001c0001t0015g0346 a0001c0001t0015g0348 a0001c0001t0015g0349 a0001c0001t0018g0003 a0001c0001t0018g0004 a0001c0001t0019g0020 a0001c0001t0019g0021 a0001c0001t0039g0073 a0001c0001t0051g0155 a0001c0001t0059g0231 a0001c0003t0011g0224 a0001c0003t0011g0225 a0001c0003t0011g0226 a0001c0003t0011g0227 a0001c0003t0011g0228 a0001c0003t0011g0229 a0001c0003t0011g0230 a0001c0003t0025g0120 a0001c0003t0025g0121 a0001c0003t0025g0122 a0001c0003t0033g0286 a0001c0003t0033g0287 a0001c0010t0001g0209 a0001c0010t0001g0210 a0002c0002t0005g0325 a0002c0002t0016g0009 a0002c0002t0016g0010 a0002c0002t0016g0011 a0013c0012t0015g0347 a0014c0021t0011g0223	63	350	0.1800	30	c.-45 others(39): Show c.-458_-457insCCTCGCCCCGCCTCGCCCCGCCTCGCCCCG	KDM5A	ENSG00000073614.13	transcript	ENST00000399788.7	protein_coding		229		chr12	TogoVar
KDM5A_chr12_275057_394320	389562	G G	GGCGAGGC others(23): Show GGCGAGGCGGGGCGAGGCGGAGCGAGGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0180 a0002c0002t0003g0180	1	350	0.0029	30	c.-47 others(39): Show c.-472_-471insTCCGCCTCGCTCCGCCTCGCCCCGCCTCGC	KDM5A	ENSG00000073614.13	transcript	ENST00000399788.7	protein_coding		243		chr12	TogoVar
KDM5A_chr12_275057_394320	389562	G G	GGCGAGGC others(23): Show GGCGAGGCGGGGCGAGGCGGGGCGAGGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA19086.hp1 NA19087.hp1 NA18998.hp1 NA19086.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0050 a0002c0002t0003 a0002c0002t0005 a0001c0001t0050 a0002c0002t0003 a0002c0002t0005	a0001c0001t0050g0208 a0002c0002t0003g0191 a0002c0002t0005g0323 a0001c0001t0050g0208 a0002c0002t0003g0191 a0002c0002t0005g0323	3	350	0.0086	30	c.-47 others(39): Show c.-472_-471insTCCGCCTCGCCCCGCCTCGCCCCGCCTCGC	KDM5A	ENSG00000073614.13	transcript	ENST00000399788.7	protein_coding		243		chr12	TogoVar
KDM5A_chr12_275057_394320	389563	G G	GCGAGGCG others(23): Show GCGAGGCGGGGCGAGGCGGAGCGAGGCGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 NA18966.hp1 NA18991.hp1 others(1): Show HG02155.hp2 NA18966.hp1 NA18991.hp1 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0002c0002t0009 a0001c0001t0002 a0002c0002t0003 a0002c0002t0009	a0001c0001t0002g0100 a0002c0002t0003g0189 a0002c0002t0009g0256 others(1): Show a0001c0001t0002g0100 a0002c0002t0003g0189 a0002c0002t0009g0256 a0002c0002t0009g0257	4	350	0.0114	30	c.-47 others(39): Show c.-473_-472insTTCCGCCTCGCTCCGCCTCGCCCCGCCTCG	KDM5A	ENSG00000073614.13	transcript	ENST00000399788.7	protein_coding		244		chr12	TogoVar
KDM7A_chr7_140079746_140181983	140100715	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18966.hp2 NA19010.hp2 NA18945.hp2 NA18966.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0315 a0001c0001t0002g0318 a0001c0001t0002g0320	3	344	0.0087	30	c.163 others(47): Show c.1639-693_1639-692insGTGTATATATATATATATATATATATAT AT	KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	12/19			chr7	TogoVar
KHDRBS1_chr1_32008868_32048877	32025916	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	272	0.0037	30	c.383 others(47): Show c.383-4368_383-4367insATATATATATATATATATATATATATAT AT	KHDRBS1	ENSG00000121774.18	transcript	ENST00000327300.12	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
KHDRBS2_chr6_61674961_62291225	61848488	T T	TATATATA others(23): Show TATATATATATATATATACGTATATATATAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0211 a0001c0002t0004g0211	1	244	0.0041	30	c.810 others(49): Show c.810+46146_810+46147insGTATATATATACGTATATATATATAT ATAT	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	6/8			chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	61954836	G G	GTATACAT others(23): Show GTATACATACATATGTGTATATACACATGCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0110 a0001c0004t0001g0110	1	244	0.0041	30	c.483 others(49): Show c.483+23229_483+23230insTGCATGTGTATATACACATATGTATG TATA	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	4/8			chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	61983200	T T	TTTTCTTT others(23): Show TTTTCTTTCTTTTCTTTCTTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03130.hp2 HG02280.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0007 a0001c0001t0011 a0001c0002t0007	a0001c0001t0011g0003 a0001c0002t0007g0212 a0001c0001t0011g0003 a0001c0002t0007g0212	2	244	0.0082	30	c.337 others(47): Show c.337-4989_337-4988insGAAAGAAAGGAAAGAAAGAAAAGAAAGA AA	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	3/8			chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	61983238	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG03491.hp2 HG03492.hp2 others(1): Show HG01515.hp2 HG03491.hp2 HG03492.hp2 NA18979.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0005 a0001c0002t0002 a0003c0005t0005 a0001c0001t0005 a0001c0002t0002 a0003c0005t0005	a0001c0001t0005g0124 a0001c0002t0002g0137 a0003c0005t0005g0009 others(1): Show a0001c0001t0005g0124 a0001c0002t0002g0137 a0003c0005t0005g0009 a0003c0005t0005g0070	4	244	0.0164	30	c.337 others(47): Show c.337-5027_337-5026insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	3/8			chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	61993650	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0158 a0001c0002t0003g0158	1	244	0.0041	30	c.337 others(49): Show c.337-15439_337-15438insATATATATATATATATATATATATAT ATAT	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	3/8			chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	62169104	T T	TACACATA others(23): Show TACACATATATGTGTGTATATATACATATAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02486.hp2 HG03130.hp2 others(2): Show HG00738.hp2 HG02486.hp2 HG03130.hp2 HG03540.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0011 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0003t0002 a0001c0003t0010	a0001c0001t0001g0079 a0001c0001t0011g0003 a0001c0003t0002g0061 others(2): Show a0001c0001t0001g0079 a0001c0001t0011g0003 a0001c0003t0002g0061 a0001c0003t0010g0001 a0001c0003t0010g0002	5	244	0.0205	30	c.219 others(47): Show c.219+8051_219+8080dupGTATATGTATATATACACACATATATGT GT	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	2/8			chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	62169147	G G	GTGTATAT others(23): Show GTGTATATATACATATACATATATGTATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG01099.hp2 others(31): Show HG00423.hp1 HG00558.hp1 HG01099.hp2 HG01517.hp1 HG02040.hp1 HG02056.hp1 HG02129.hp1 HG02155.hp1 HG02257.hp2 HG02280.hp2 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03579.hp1 HG03704.hp1 HG04199.hp2 HG04204.hp1 NA18945.hp2 NA18962.hp1 NA18970.hp2 NA18977.hp1 NA18989.hp2 NA19002.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0011 others(1): Show a0001c0002 a0001c0004 a0001c0011 a0002c0006	a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 others(7): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0004t0004 a0001c0004t0006 a0001c0004t0008 a0001c0004t0016 a0001c0004t0018 a0001c0011t0004 a0002c0006t0004	a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0133 others(31): Show a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0133 a0001c0002t0004g0180 a0001c0002t0004g0190 a0001c0002t0004g0191 a0001c0002t0004g0192 a0001c0002t0004g0193 a0001c0002t0004g0198 a0001c0002t0004g0199 a0001c0002t0004g0200 a0001c0002t0004g0201 a0001c0002t0004g0202 a0001c0002t0004g0204 a0001c0002t0004g0205 a0001c0002t0004g0207 a0001c0002t0004g0208 a0001c0002t0004g0210 a0001c0002t0004g0216 a0001c0002t0004g0232 a0001c0002t0007g0212 a0001c0002t0007g0237 a0001c0002t0007g0238 a0001c0004t0004g0242 a0001c0004t0006g0197 a0001c0004t0006g0209 a0001c0004t0008g0233 a0001c0004t0008g0234 a0001c0004t0008g0243 a0001c0004t0016g0239 a0001c0004t0018g0241 a0001c0011t0004g0240 a0002c0006t0004g0186 a0002c0006t0004g0187	34	244	0.1393	30	c.219 others(47): Show c.219+8037_219+8038insTATATACATATATGTATATGTATATATA CA	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	2/8			chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	62169158	C C	CATATACA others(23): Show CATATACATATATGTATATATGTATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0236 a0001c0002t0007g0236	1	244	0.0041	30	c.219 others(47): Show c.219+8026_219+8027insATATATATACATATATACATATATGTAT AT	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	2/8			chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	62169159	G G	ATATACAT others(23): Show ATATACATATATGTATATATGTATATATACG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03130.hp1 NA19043.hp2 HG02922.hp2 HG03130.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0213 a0001c0002t0004g0214 a0001c0002t0004g0215 a0001c0002t0004g0213 a0001c0002t0004g0214 a0001c0002t0004g0215	3	244	0.0123	30	c.219 others(47): Show c.219+8026_219+8027insGTATATATACATATATACATATATGTAT AT	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	2/8			chr6	TogoVar
KHDRBS3_chr8_135452456_135652610	135485842	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03130.hp1 HG03130.hp2 others(2): Show HG01975.hp2 HG03130.hp1 HG03130.hp2 NA19012.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0005t0002	a0001c0001t0001g0241 a0001c0001t0002g0218 a0001c0001t0002g0327 others(2): Show a0001c0001t0001g0241 a0001c0001t0002g0218 a0001c0001t0002g0327 a0001c0001t0005g0196 a0002c0005t0002g0188	5	342	0.0146	30	c.88+ others(47): Show c.88+27915_88+27916insATATATATATATATATATATATATATAT AT	KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
KHDRBS3_chr8_135452456_135652610	135485842	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	342	0.0029	30	c.88+ others(47): Show c.88+27889_88+27890insTTATATATATATATATATATATATATAT AT	KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
KHSRP_chr19_6408102_6429811	6410145	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0065 a0001c0005t0065	a0001c0005t0065g0153 a0001c0005t0065g0153	1	386	0.0026	30	c.48 others(41): Show c.4878_*4879insTATATATAGAGAGAGAGAGAGAGAGAGAGA	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		2956		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6410145	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0066 a0001c0005t0066	a0001c0005t0066g0154 a0001c0005t0066g0154	1	386	0.0026	30	c.48 others(41): Show c.4878_*4879insTATATAGAGAGAGAGAGAGAGAGAGAGAGA	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		2956		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429023	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG03516.hp2 HG00642.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0003t0003 a0001c0001t0011 a0001c0003t0003	a0001c0001t0011g0015 a0001c0003t0003g0117 a0001c0001t0011g0015 a0001c0003t0003g0117	2	386	0.0052	30	c.-43 others(41): Show c.-4323_-4322insTATATATATATATATATATATATATATATA	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4213		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429024	T T	TATATATA others(23): Show TATATATATATATATATATATATATATGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0036 a0001c0003t0001g0036	1	386	0.0026	30	c.-43 others(41): Show c.-4324_-4323insCATCATATATATATATATATATATATATAT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4214		chr19	TogoVar
KIAA0319_chr6_24539107_24651191	24579412	G G	GATAGATA others(23): Show GATAGATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02965.hp1 HG02258.hp1 HG02965.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0070 a0008c0012t0001 a0008c0012t0070	a0008c0012t0001g0129 a0008c0012t0070g0109 a0008c0012t0001g0129 a0008c0012t0070g0109	2	300	0.0067	30	c.137 others(47): Show c.1372+445_1372+446insATATATATATATATATATATATATATCT AT	KIAA0319	ENSG00000137261.15	transcript	ENST00000378214.8	protein_coding	8/20			chr6	TogoVar
KIAA0319_chr6_24539107_24651191	24648659	G G	GAAAAAAA others(23): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0077 a0001c0001t0059g0077	1	300	0.0033	30	c.-30 others(41): Show c.-3030_-3029insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	KIAA0319	ENSG00000137261.15	transcript	ENST00000378214.8	protein_coding		2469		chr6	TogoVar
KIAA0586_chr14_58422719_58556297	58484890	T T	TTATATAT others(23): Show TTATATATATATATTTATATATATTTTTATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00558.hp2 others(12): Show HG00408.hp1 HG00558.hp1 HG00558.hp2 HG01496.hp2 HG01978.hp2 HG02055.hp2 HG02132.hp1 HG02976.hp1 HG03017.hp2 HG03225.hp1 HG03579.hp2 HG03688.hp2 NA18522.hp1 NA18950.hp1 NA18985.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0018	a0001c0001 a0002c0002 a0009c0010 others(1): Show a0001c0001 a0002c0002 a0009c0010 a0018c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0002c0002t0001 a0009c0010t0003 a0018c0015t0003	a0001c0001t0001g0004 a0001c0001t0001g0047 a0001c0001t0001g0051 others(12): Show a0001c0001t0001g0004 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0065 a0001c0001t0001g0098 a0001c0001t0002g0227 a0001c0001t0003g0093 a0001c0001t0003g0113 a0001c0001t0004g0269 a0001c0001t0005g0146 a0001c0001t0008g0273 a0002c0002t0001g0073 a0002c0002t0001g0077 a0009c0010t0003g0101 a0018c0015t0003g0095	15	300	0.0500	30	c.314 others(49): Show c.3145-2104_3145-2103insTTATATATATTTTTATATATATATAT ATAT	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(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02083.hp1 NA18957.hp1 HG00597.hp2 HG02083.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0003g0110 a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0003g0110	3	300	0.0100	30	c.314 others(49): Show c.3145-2082_3145-2081insATATATATATATATATATATTTTTTT TTTT	KIAA0586	ENSG00000100578.18	transcript	ENST00000652326.2	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIAA0586_chr14_58422719_58556297	58507198	A A	ATATATGT others(23): Show ATATATGTATGATTTATATATATAAATCATC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0128 a0001c0001t0010g0128	1	300	0.0033	30	c.416 others(49): Show c.4169-1335_4169-1306dupTAAATCATCTATATGTATGATTTATA TATA	KIAA0586	ENSG00000100578.18	transcript	ENST00000652326.2	protein_coding	27/30		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIAA0825_chr5_94145851_94623604	94152855	A A	AAAAAAAA others(23): Show AAAAAAAAATTATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0014 a0001c0007t0014	a0001c0007t0014g0049 a0001c0007t0014g0049	1	54	0.0185	30	c.11 others(41): Show c.1151_*1152insATATATATATATATATATATAATTTTTTTT	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	21/21	1151		chr5	TogoVar
KIAA0930_chr22_45187244_45245894	45229010	C C	CTCACCCG others(23): Show CTCACCCGAAAGATCCCTCTCCACCCCCCTA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0196 a0001c0001t0089g0196	1	398	0.0025	30	c.64+ others(47): Show c.64+11629_64+11630insTAGGGGGGTGGAGAGGGATCTTTCGGGT GA	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229012	A A	ACCTGAGA others(23): Show ACCTGAGAGATCCCTCTCCACCCCCGCCATC	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19079.hp1 HG00423.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0132 a0001c0001t0001 a0001c0001t0132	a0001c0001t0001g0361 a0001c0001t0132g0119 a0001c0001t0001g0361 a0001c0001t0132g0119	2	398	0.0050	30	c.64+ others(47): Show c.64+11627_64+11628insGATGGCGGGGGTGGAGAGGGATCTCTCA GG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229053	A A	ACCTGAGA others(23): Show ACCTGAGAGATCCCTCTCCACCCCCGCCATC	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18954.hp1 HG02630.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0004 a0001c0001t0021	a0001c0001t0004g0213 a0001c0001t0021g0381 a0001c0001t0004g0213 a0001c0001t0021g0381	2	398	0.0050	30	c.64+ others(47): Show c.64+11586_64+11587insGATGGCGGGGGTGGAGAGGGATCTCTCA GG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229094	A A	ACCTGAGA others(23): Show ACCTGAGAGATCCCTCTCCACCCCCGCCATC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0082 a0001c0001t0043g0083 a0001c0001t0043g0082 a0001c0001t0043g0083	2	398	0.0050	30	c.64+ others(47): Show c.64+11545_64+11546insGATGGCGGGGGTGGAGAGGGATCTCTCA GG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1210_chrX_119073635_119132812	119125714	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0154 a0002c0002t0002g0154	1	261	0.0038	30	c.-11 others(47): Show c.-11+2012_-11+2013insATATATATATATATATATATATATATAT AT	KIAA1210	ENSG00000250423.3	transcript	ENST00000691062.1	protein_coding	1/11			chrX	TogoVar
KIAA1210_chrX_119073635_119132812	119125735	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	261	0.0038	30	c.-11 others(47): Show c.-11+1991_-11+1992insAATATATATATATATATATATATATATA TA	KIAA1210	ENSG00000250423.3	transcript	ENST00000691062.1	protein_coding	1/11			chrX	TogoVar
KIAA1210_chrX_119073635_119132812	119125735	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0032 a0002c0002t0002g0032	1	261	0.0038	30	c.-11 others(47): Show c.-11+1991_-11+1992insAAAAAAAAAATATATATATATATATATA TA	KIAA1210	ENSG00000250423.3	transcript	ENST00000691062.1	protein_coding	1/11			chrX	TogoVar
KIAA1217_chr10_24204138_24552843	24520651	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0083 a0001c0083	a0001c0083t0004 a0001c0083t0004	a0001c0083t0004g0054 a0001c0083t0004g0054	1	240	0.0042	30	c.230 others(47): Show c.2308+399_2308+400insAAAAAATATATATATATATATATATATA TA	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(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0203 a0001c0006t0005g0203	1	240	0.0042	30	c.230 others(47): Show c.2308+423_2308+424insTATATATATATATATATATATATATATA CA	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(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG01109.hp2 others(3): Show HG00140.hp2 HG01109.hp1 HG01109.hp2 HG03453.hp2 HG03654.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0007t0005	a0001c0001t0001g0058 a0001c0002t0001g0049 a0001c0002t0001g0079 others(3): Show a0001c0001t0001g0058 a0001c0002t0001g0049 a0001c0002t0001g0079 a0001c0002t0001g0089 a0001c0006t0001g0050 a0001c0007t0005g0046	6	200	0.0300	30	c.333 others(47): Show c.333-1587_333-1586insTATATATATATATATATATATATATATA TA	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(23): Show GTATATGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG04184.hp2 homoSapiens_chm13v2.hp1 HG03130.hp2 HG04184.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0004 a0003c0005t0004 a0001c0003t0004 a0003c0005t0004	a0001c0003t0004g0191 a0001c0003t0004g0199 a0003c0005t0004g0194 a0001c0003t0004g0191 a0001c0003t0004g0199 a0003c0005t0004g0194	3	200	0.0150	30	c.333 others(47): Show c.333-1600_333-1599insGTGTATATATATATATATATATATATAT AT	KIAA1328	ENSG00000150477.15	transcript	ENST00000280020.10	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIAA1328_chr18_36824127_37230334	36883969	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	200	0.0050	30	c.333 others(47): Show c.333-1587_333-1586insTATATATATATATATATATATATATATA CA	KIAA1328	ENSG00000150477.15	transcript	ENST00000280020.10	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIAA1549L_chr11_33371108_33679102	33435810	A A	ATATATGT others(23): Show ATATATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0003 a0001c0020t0003	a0001c0020t0003g0069 a0001c0020t0003g0069	1	226	0.0044	30	c.238 others(49): Show c.238+58922_238+58923insATATGTGTGTGTGTGTGTGTGTGTGT GTGT	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(23): Show ATATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0010 a0001c0041t0010	a0001c0041t0010g0086 a0001c0041t0010g0086	1	226	0.0044	30	c.238 others(49): Show c.238+58922_238+58923insATGTGTGTGTGTGTGTGTGTGTGTGT GTGT	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33435818	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0019 a0001c0024t0019	a0001c0024t0019g0108 a0001c0024t0019g0108	1	226	0.0044	30	c.238 others(49): Show c.238+58930_238+58931insGTGTGTGTGTGTGTGTGTGTGTGTGT GTAT	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1614_chr1_180907897_180956614	180924886	A A	AAATAATA others(23): Show AAATAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03239.hp1 HG02698.hp1 HG03239.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0044 a0002c0002 a0009c0044	a0002c0002t0025 a0009c0044t0077 a0002c0002t0025 a0009c0044t0077	a0002c0002t0025g0176 a0009c0044t0077g0204 a0002c0002t0025g0176 a0009c0044t0077g0204	2	430	0.0047	30	c.106 others(49): Show c.1062-3521_1062-3520insTAATAATAATAATAATAATAATAATA ATAA	KIAA1614	ENSG00000135835.12	transcript	ENST00000367588.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIAA1671_chr22_24947716_25202448	25093832	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTGTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02896.hp2 HG00741.hp1 HG02896.hp2	a0001 a0010 a0001 a0010	a0001c0012 a0010c0048 a0001c0012 a0010c0048	a0001c0012t0015 a0010c0048t0011 a0001c0012t0015 a0010c0048t0011	a0001c0012t0015g0074 a0010c0048t0011g0084 a0001c0012t0015g0074 a0010c0048t0011g0084	2	254	0.0079	30	c.453 others(51): Show c.4530+44469_4530+44470insCTCTCTCTCTCTGTCTCTCTCTCT CTCTGT	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
KIAA2012_chr2_202068255_202210188	202133109	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0010 a0003c0006t0001g0010	1	312	0.0032	30	c.183 others(49): Show c.1832-5322_1832-5321insAAAAAATATATATATATATATATATA TATA	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(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	312	0.0032	30	c.183 others(49): Show c.1832-5301_1832-5300insATATATATATATATATATTTTTTTTT TTTT	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(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01071.hp2 HG00280.hp1 HG01071.hp2	a0003 a0006 a0003 a0006	a0003c0006 a0006c0007 a0003c0006 a0006c0007	a0003c0006t0001 a0006c0007t0001 a0003c0006t0001 a0006c0007t0001	a0003c0006t0001g0064 a0006c0007t0001g0071 a0003c0006t0001g0064 a0006c0007t0001g0071	2	312	0.0064	30	c.183 others(49): Show c.1832-5301_1832-5300insATATATATATATATTTTTTTTTTTTT TTTT	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(23): Show ATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0087 a0006c0007t0001g0087	1	312	0.0032	30	c.183 others(49): Show c.1832-5301_1832-5300insATATATATATATTTTTTTTTTTTTTT TTTT	KIAA2012	ENSG00000182329.14	transcript	ENST00000498697.3	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar

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