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
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	43	0.0233	41	c.97- others(58): Show c.97-10734_97-10733insATATATATATATATATATATATATATTT TTTTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC136_chr7_128786968_128827130	128796739	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19084.hp1 NA19091.hp2 HG03831.hp2 NA19084.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174	3	294	0.0102	41	c.346 others(58): Show c.346+1972_346+1973insATATATATATATATATATATATATATAT ATATTTTTTTTTT	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC136_chr7_128786968_128827130	128796739	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18981.hp2 NA18980.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0179 a0001c0001t0002g0180	2	293	0.0068	41	c.346 others(58): Show c.346+1972_346+1973insATATATATATATATATATATATATATAT ATTTTTTTTTTTT	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC136_chr7_128786968_128827130	128796739	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0002 a0007c0014t0002	a0007c0014t0002g0203 a0007c0014t0002g0203	1	292	0.0034	41	c.346 others(58): Show c.346+1972_346+1973insATATATATATATATATATATATATATAT TTTTTTTTTTTTT	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC141_chr2_178824757_179055137	179015081	T T	TATATATA others(34): Show TATATATATATATATATATATATATATAATATATATATAATC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0002 a0009c0014t0002	a0009c0014t0002g0127 a0009c0014t0002g0127	1	263	0.0038	41	c.225 others(60): Show c.225+32202_225+32203insGATTATATATATATTATATATATATA TATATATATATATAT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC170_chr6_151489017_151626193	151514353	G G	GAGGGAGG others(34): Show GAGGGAGGGAAGGGAAGAAGGGAGGGAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG02572.hp1 others(12): Show HG01081.hp2 HG01099.hp1 HG02572.hp1 HG02723.hp2 HG02886.hp2 HG02970.hp1 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 NA18522.hp2 NA18906.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0011 a0012	a0001c0005 a0002c0002 a0002c0003 others(4): Show a0001c0005 a0002c0002 a0002c0003 a0003c0012 a0006c0010 a0011c0016 a0012c0022	a0001c0005t0065 a0002c0002t0014 a0002c0002t0024 others(7): Show a0001c0005t0065 a0002c0002t0014 a0002c0002t0024 a0002c0003t0004 a0002c0003t0006 a0002c0003t0023 a0003c0012t0007 a0006c0010t0006 a0011c0016t0024 a0012c0022t0002	a0001c0005t0065g0211 a0002c0002t0014g0215 a0002c0002t0024g0213 others(12): Show a0001c0005t0065g0211 a0002c0002t0014g0215 a0002c0002t0024g0213 a0002c0003t0004g0126 a0002c0003t0004g0218 a0002c0003t0004g0219 a0002c0003t0004g0221 a0002c0003t0006g0212 a0002c0003t0023g0220 a0003c0012t0007g0222 a0003c0012t0007g0224 a0003c0012t0007g0225 a0006c0010t0006g0217 a0011c0016t0024g0214 a0012c0022t0002g0316	15	271	0.0554	41	c.57+ others(58): Show c.57+20177_57+20178insAGGGAAGAAGGGAGGGAGGGAGGGAGGG AGGAAGGGAGGGA	CCDC170	ENSG00000120262.10	transcript	ENST00000239374.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC170_chr6_151489017_151626193	151514353	G G	GAGGGAGG others(34): Show GAGGGAGGGAGGGAAGGGAAGAAGGGAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19091.hp2 NA19002.hp2 NA19091.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0005 a0003c0009t0005	a0003c0009t0005g0191 a0003c0009t0005g0192 a0003c0009t0005g0191 a0003c0009t0005g0192	2	258	0.0078	41	c.57+ others(58): Show c.57+20181_57+20182insAGGGAAGAAGGGAGGGAGGGAGGGAGGA AGGGAGGGAGGGA	CCDC170	ENSG00000120262.10	transcript	ENST00000239374.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC178_chr18_32932406_33445721	33179116	A A	ATATATAT others(34): Show ATATATATATAAACTATATATATATAAACTATATATATAAAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0055 a0003c0003t0001g0055	1	34	0.0294	41	c.223 others(62): Show c.2238+32779_2238+32780insGTTTATATATATAGTTTATATATA TATAGTTTATATATATA	CCDC178	ENSG00000166960.17	transcript	ENST00000383096.8	protein_coding	20/22			chr18	TogoVar
CCDC192_chr5_127698391_127946507	127918216	T T	TAAAAAAA others(34): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	144	0.0069	41	c.536 others(60): Show c.536-22947_536-22946insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CCDC194_chr19_17382196_17399196	17382276	A A	AGAAAGAA others(34): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA19079.hp1 NA18970.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	156	0.0128	41	c.82 others(52): Show c.8232_*8233insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTC	CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding		4919		chr19	TogoVar
CCDC197_chr14_93992301_94013863	94012230	C C	CCCTCTCC others(34): Show CCCTCTCCCCTCCCTCCCCCTTCCCCCTCCCCTTCCCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	392	0.0026	41	c.34 others(52): Show c.3418_*3419insCCTCTCCCCTCCCTCCCCCTTCCCCCTCCCCTTC CCTTCCT	CCDC197	ENSG00000175699.15	transcript	ENST00000636493.2	protein_coding		3368		chr14	TogoVar
CCDC200_chr17_43216420_43233623	43225677	A A	AAGTATAT others(34): Show AAGTATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00733.hp2 others(3): Show HG00323.hp2 HG00642.hp1 HG00733.hp2 HG02109.hp2 HG02148.hp2 HG03669.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0004c0007t0002 a0001c0001t0002 a0004c0007t0002	a0001c0001t0002g0169 a0001c0001t0002g0213 a0001c0001t0002g0214 others(3): Show a0001c0001t0002g0169 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0004c0007t0002g0173	6	203	0.0296	41	c.106 others(58): Show c.106-1129_106-1128insATATATATATATATATATATATATATAT ATATATATATACT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar
CCDC200_chr17_43216420_43233623	43225693	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATAATATATATAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	204	0.0049	41	c.106 others(58): Show c.106-1145_106-1144insTTTTATATATATTATATATATATATATA TATATATATATAT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar
CCDC200_chr17_43216420_43233623	43225693	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	204	0.0049	41	c.106 others(58): Show c.106-1145_106-1144insTTTATATATATATATATATATATATATA TATATATATATAT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0238 a0001c0002t0003g0238	1	22	0.0455	41	c.116 others(60): Show c.1160-2477_1160-2476insATATATATATATATATATATATATAT ATATATTTTTTTTTT	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC57_chr17_82096470_82217842	82187753	C C	CGGGGGGA others(34): Show CGGGGGGAGCTGGCAGGAGTGGGGCAGGGAGTTGGCGGGGCT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0044 a0002c0003t0002g0044	1	249	0.0040	41	c.105 others(58): Show c.1052+425_1052+465dupAGCCCCGCCAACTCCCTGCCCCACTCCT GCCAGCTCCCCCC	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	7/18			chr17	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGGGGT others(34): Show GGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18984.hp2 NA18944.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	110	0.0182	41	c.-40 others(50): Show c.-401_-400insGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGGTGT others(34): Show GGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02083.hp1 HG02970.hp1 others(1): Show HG02055.hp1 HG02083.hp1 HG02970.hp1 NA19056.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0003c0004t0004 a0001c0001t0001 a0001c0001t0002 a0003c0004t0004	a0001c0001t0001g0127 a0001c0001t0001g0154 a0001c0001t0002g0123 others(1): Show a0001c0001t0001g0127 a0001c0001t0001g0154 a0001c0001t0002g0123 a0003c0004t0004g0185	4	112	0.0357	41	c.-40 others(50): Show c.-401_-400insGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC6_chr10_59783747_59911556	59882164	G G	GGGAGAAG others(34): Show GGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0283 a0001c0001t0031g0283	1	285	0.0035	41	c.303 others(60): Show c.303+23957_303+23958insGCTTTCCTTTCCTTCTCCCCCCGGCT TTCCTTTCCTTCTCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882253	G G	GGAAAGCC others(34): Show GGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0147 a0001c0003t0003g0147	1	283	0.0035	41	c.303 others(60): Show c.303+23868_303+23869insTTTCCTTCTCCCCGGCTTTCCTTTCC TTCTCCCCGGCTTTC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC88A_chr2_55282842_55424856	55367528	G G	GTTTTTTT others(34): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA19030.hp1 HG04228.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0121 a0001c0001t0009g0090 a0001c0001t0004g0121 a0001c0001t0009g0090	2	14	0.1429	41	c.403 others(58): Show c.403-3496_403-3495insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	5/32			chr2	TogoVar
CCDC88A_chr2_55282842_55424856	55390053	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02922.hp1 HG01515.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0203 a0001c0001t0008g0284 a0001c0001t0001g0203 a0001c0001t0008g0284	2	101	0.0198	41	c.165 others(58): Show c.165-1168_165-1167insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	2/32			chr2	TogoVar
CCDC88B_chr11_64335204_64362534	64354829	T T	TCTCCCTG others(34): Show TCTCCCTGCATGAGCCTCAGCCTCCTCCCCTCCTCTGACCCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 NA18948.hp2 others(1): Show HG00423.hp2 HG00438.hp1 NA18948.hp2 NA18974.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0007 a0007c0018t0001g0045 a0007c0018t0001g0007 a0007c0018t0001g0045	4	398	0.0101	41	c.410 others(58): Show c.4100-343_4100-303dupTCCTCCCCTCCTCTGACCCCCTCCCTGC ATGAGCCTCAGCC	CCDC88B	ENSG00000168071.22	transcript	ENST00000356786.10	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCNB1IP1_chr14_20306370_20338279	20332005	C C	CATATATA others(34): Show CATATATATATATATATATGATGTGTATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	287	0.0035	41	c.-43 others(60): Show c.-431+1248_-431+1249insATATATATATATGTATACACATCATA TATATATATATATAT	CCNB1IP1	ENSG00000100814.19	transcript	ENST00000358932.9	protein_coding	1/6			chr14	TogoVar
CCNB1IP1_chr14_20306370_20338279	20332005	C C	CATATATA others(34): Show CATATATATATATATATGATGTGTATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	287	0.0035	41	c.-43 others(60): Show c.-431+1248_-431+1249insATATATATATATATGTATACACATCA TATATATATATATAT	CCNB1IP1	ENSG00000100814.19	transcript	ENST00000358932.9	protein_coding	1/6			chr14	TogoVar
CCNP_chr19_40217208_40231689	40228679	A A	AAATATAT others(34): Show AAATATATATATATATATATATATATATATATATCTATATCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0030 a0003c0005t0001g0030	1	320	0.0031	41	c.-20 others(52): Show c.-2039_-2038insAGATATAGATATATATATATATATATATATATAT ATATATT	CCNP	ENSG00000105219.10	transcript	ENST00000430325.7	protein_coding		1991		chr19	TogoVar
CCNP_chr19_40217208_40231689	40228679	A A	AAATATCT others(34): Show AAATATCTATATATATATATATATATATATATATATATCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	320	0.0031	41	c.-20 others(52): Show c.-2039_-2038insATAGATATATATATATATATATATATATATATAT AGATATT	CCNP	ENSG00000105219.10	transcript	ENST00000430325.7	protein_coding		1991		chr19	TogoVar
CCNT2_chr2_134913822_134964342	134931262	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	73	0.0137	41	c.241 others(58): Show c.241-5554_241-5553insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	CCNT2	ENSG00000082258.13	transcript	ENST00000264157.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCNY_chr10_35331509_35577667	35549553	G G	GTGACCCT others(34): Show GTGACCCTGCGCTGCTCATGACACATGACCCTACAGTGCTCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	294	0.0034	41	c.580 others(58): Show c.580-3425_580-3385dupATGACCCTGCGCTGCTCATGACACATGA CCCTACAGTGCTC	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSAP_chr1_229316015_229348047	229337678	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0117 a0001c0001t0029g0117	1	194	0.0052	41	c.367 others(58): Show c.367+4420_367+4421insGTATATATATATATATATATATATTTTT TTTTTTTTTTTTT	CCSAP	ENSG00000154429.11	transcript	ENST00000284617.7	protein_coding	2/3			chr1	TogoVar
CCSER2_chr10_84323589_84523517	84512395	T T	TGTGTGTG others(34): Show TGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0022 a0003c0004t0022	a0003c0004t0022g0043 a0003c0004t0022g0043	1	152	0.0066	41	c.232 others(60): Show c.2326-1053_2326-1052insTGTGTGAGAGAGAGAGAGAGAGAGAG AGAGAGAGGGGGAGG	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84512405	A A	AGAGAGAG others(34): Show AGAGAGAGAGAGAGAGAGAGAGAGGGGGGAGGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02135.hp2 HG00733.hp1 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0018 a0002c0002t0005 a0002c0002t0018	a0002c0002t0005g0098 a0002c0002t0018g0107 a0002c0002t0005g0098 a0002c0002t0018g0107	2	249	0.0080	41	c.232 others(60): Show c.2326-1033_2326-1032insAGAGAGAGAGAGGGGGGAGGAGAGAG AGAGGAGAGAGAGAG	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCZ1B_chr7_6793937_6831275	6794011	C C	CATCTTGG others(34): Show CATCTTGGGGGGCTGTGTACATGCTCACCTTTGCTGCTAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 NA18959.hp1 HG02647.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0006 a0001c0011t0004 a0001c0001t0006 a0001c0011t0004	a0001c0001t0006g0183 a0001c0011t0004g0175 a0001c0001t0006g0183 a0001c0011t0004g0175	2	354	0.0056	41	c.52 others(52): Show c.5212_*5213insACCTAGCAGCAAAGGTGAGCATGTACACAGCCCC CCAAGAT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		4925		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6794074	A A	ACTCACCT others(34): Show ACTCACCTTTGCTGCTAGGCATCTTGGGGGGCTGTGTACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0088 a0001c0002t0004g0088	1	127	0.0079	41	c.51 others(52): Show c.5109_*5149dupCATGTACACAGCCCCCCAAGATGCCTAGCAGCAA AGGTGAG	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		4862		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6794093	C C	CATCTTGG others(34): Show CATCTTGGGGGGCTGTGTACATGCTCACCTTTGCTGCTAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG04228.hp1 NA18985.hp1 others(1): Show HG03942.hp2 HG04228.hp1 NA18985.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0003 a0001c0002t0001 a0002c0003t0003	a0001c0002t0001g0064 a0001c0002t0001g0081 a0002c0003t0003g0138 others(1): Show a0001c0002t0001g0064 a0001c0002t0001g0081 a0002c0003t0003g0138 a0002c0003t0003g0139	4	263	0.0152	41	c.50 others(52): Show c.5090_*5130dupACCTAGCAGCAAAGGTGAGCATGTACACAGCCCC CCAAGAT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		4843		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6830739	C C	CACACACA others(34): Show CACACACACATATATATATATTATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0171 a0002c0003t0003g0171	1	88	0.0114	41	c.-45 others(52): Show c.-4543_-4542insATATATATATATATATATATAATATATATATATG TGTGTGT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		4465		chr7	TogoVar
CCZ1_chr7_5893733_5931550	5930783	A A	ACCTAGCA others(34): Show ACCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG03098.hp1 HG02109.hp2 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0011 a0002c0002t0011 a0001c0007t0011 a0002c0002t0011	a0001c0007t0011g0013 a0002c0002t0011g0027 a0001c0007t0011g0013 a0002c0002t0011g0027	2	14	0.1429	41	c.50 others(52): Show c.5096_*5097insCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCC CAAGATG	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding		4234		chr7	TogoVar
CD163_chr12_7465811_7508777	7494373	C C	CCCCTATC others(34): Show CCCCTATCAAAAACATAAATACTAAACAACACATCAAAACAA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	426	0.0023	41	c.142 others(58): Show c.1420+707_1420+708insTTGTTTTGATGTGTTGTTTAGTATTTAT GTTTTTGATAGGG	CD163	ENSG00000177575.13	transcript	ENST00000432237.3	protein_coding	6/16			chr12	TogoVar
CD40LG_chrX_136643158_136665390	136663429	T T	TATATTAT others(34): Show TATATTATATATATTATATATATATTATATATATTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG03130.hp1 HG02818.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0039 a0001c0001t0032 a0001c0001t0039	a0001c0001t0032g0023 a0001c0001t0039g0013 a0001c0001t0032g0023 a0001c0001t0039g0013	2	283	0.0071	41	c.40 others(52): Show c.4014_*4015insATATTATATATATTATATATATATTATATATATT ATATATA	CD40LG	ENSG00000102245.9	transcript	ENST00000370629.7	protein_coding		3040		chrX	TogoVar
CD44_chr11_35134171_35237402	35181866	T T	TATATATT others(34): Show TATATATTATATATAATTCATATATATATAATATAATATATA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0269 a0002c0005t0001g0269	1	376	0.0027	41	c.367 others(58): Show c.367+1465_367+1466insTATATATAATTCATATATATATAATATA ATATATAATATAT	CD44	ENSG00000026508.21	transcript	ENST00000428726.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
CD5_chr11_61097489_61132852	61099531	T T	TACATCAA others(34): Show TACATCAACATGGAGATCACACACACACAACATGGAGATCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02717.hp2 HG02258.hp2 HG02572.hp2 HG02717.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0002 a0002c0003 a0003c0002	a0002c0003t0007 a0003c0002t0005 a0002c0003t0007 a0003c0002t0005	a0002c0003t0007g0021 a0003c0002t0005g0116 a0002c0003t0007g0021 a0003c0002t0005g0116	3	241	0.0124	41	c.-30 others(52): Show c.-3030_-3029insACATCAACATGGAGATCACACACACACAACATGG AGATCAC	CD5	ENSG00000110448.11	transcript	ENST00000347785.8	protein_coding		2957		chr11	TogoVar
CD83_chr6_14112772_14141906	14140508	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18949.hp2 NA18939.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0011 a0001c0001t0001g0003 a0001c0001t0002g0011	2	107	0.0187	41	c.52 others(52): Show c.5272_*5273insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	CD83	ENSG00000112149.10	transcript	ENST00000379153.4	protein_coding		3603		chr6	TogoVar
CD8B_chr2_86833167_86866886	86833540	T T	TCCCCTCC others(34): Show TCCCCTCCGCTCTCCTCCCCTCCCCTCCGCTCTCCTCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0025	1	390	0.0026	41	c.87 others(52): Show c.8766_*8767insGAGGGGAGGAGAGCGGAGGGGAGGGGAGGAGAGC GGAGGGG	CD8B	ENSG00000172116.23	transcript	ENST00000390655.12	protein_coding		4626		chr2	TogoVar
CD96_chr3_111537197_111657372	111651896	A A	AAAAAGAA others(34): Show AAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	287	0.0035	41	c.20 others(52): Show c.2093_*2094insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAA	CD96	ENSG00000153283.13	transcript	ENST00000352690.9	protein_coding	14/14	2094	INFO_REALIGN_3_PRIME	chr3	TogoVar
CDC14A_chr1_100347506_100525277	100412696	T T	TTATATAT others(34): Show TTATATATATATATATATATATATATATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0244 a0001c0001t0004g0244	1	182	0.0055	41	c.310 others(60): Show c.310-11499_310-11498insATATATTTTATATATATATATATATA TATATATATATATAT	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDCA7_chr2_173349872_173373997	173372025	G G	GATTTTTA others(34): Show GATTTTTAAAATGTAAACATTATATATATATATATATAACTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0007	1	215	0.0047	41	c.43 others(52): Show c.4361_*4362insATTTTTAAAATGTAAACATTATATATATATATAT ATAACTT	CDCA7	ENSG00000144354.15	transcript	ENST00000306721.8	protein_coding		3029		chr2	TogoVar
CDH10_chr5_24482100_24649978	24508643	T T	TATAGTCC others(34): Show TATAGTCCCATCTTATAGTAACTAACCTATAGTCCCATCTTA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	288	0.0035	41	c.125 others(58): Show c.1256+922_1256+923insTAAGATGGGACTATAGGTTAGTTACTAT AAGATGGGACTAT	CDH10	ENSG00000040731.10	transcript	ENST00000264463.8	protein_coding	7/11			chr5	TogoVar
CDH1_chr16_68732292_68840537	68745557	T T	TATATGTA others(34): Show TATATGTATATATATATATATGTATATATATATGTATGTGTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG00673.hp1 others(41): Show HG00621.hp2 HG00642.hp2 HG00673.hp1 HG01069.hp1 HG01070.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01361.hp1 HG01496.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02148.hp1 HG02630.hp2 HG02735.hp2 HG03688.hp1 HG03710.hp1 HG04199.hp1 NA18939.hp1 NA18943.hp1 NA18945.hp2 NA18955.hp2 NA18960.hp1 NA18967.hp1 NA18970.hp2 NA18982.hp1 NA18984.hp2 NA18987.hp2 NA19057.hp1 NA19060.hp1 NA19070.hp2 NA20300.hp2 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0006c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0001 a0001c0002t0009 a0001c0002t0013 a0001c0002t0018 a0001c0003t0003 a0001c0006t0001 a0006c0014t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 others(41): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0278 a0001c0001t0002g0161 a0001c0001t0010g0140 a0001c0002t0001g0120 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0136 a0001c0002t0001g0162 a0001c0002t0009g0125 a0001c0002t0009g0145 a0001c0002t0009g0146 a0001c0002t0013g0121 a0001c0002t0018g0139 a0001c0003t0003g0157 a0001c0006t0001g0117 a0001c0006t0001g0118 a0006c0014t0001g0147	44	294	0.1497	41	c.163 others(58): Show c.163+7150_163+7151insGTATATATATATATATGTATATATATAT GTATGTGTAATAT	CDH1	ENSG00000039068.20	transcript	ENST00000261769.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH4_chr20_61247261_61945617	61282947	C C	CGTGTGTG others(34): Show CGTGTGTGATGTACGTGCGTTTGCACGCGTGTGCTGTGGCGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0091 a0001c0001t0018g0091	1	47	0.0213	41	c.169 others(60): Show c.169+28015_169+28016insTGATGTACGTGCGTTTGCACGCGTGT GCTGTGGCGTGTGTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH7_chr18_65746012_65895337	65781956	C C	CTCCTCTT others(34): Show CTCCTCTTTCTCTCTCTCCTCTCCTCTCTCCTCTTTCTCTCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0062 a0001c0007t0062	a0001c0007t0062g0102 a0001c0007t0062g0102	1	206	0.0049	41	c.210 others(60): Show c.210+18906_210+18907insCTCTTTCTCTCTCTCCTCTCCTCTCT CCTCTTTCTCTCTTC	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar

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