Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
CAPN12_chr19_38725192_38749474	38735670	CGCGGGGC others(53): Show CGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGG GGGTTCTGGGG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp2 HG02145.hp1 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0209 a0001c0003t0002g0205 a0001c0003t0001g0209 a0001c0003t0002g0205	2	342	0.0059	-60	c.158 others(77): Show c.1584-186_1584-127delCCCCAGAACCCCCGCCCCGCCCCCAGAA CCCCCGCCCCGCCCCCAGAACCCCCGCCCCGC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN1_chr11_65176928_65217006	65216078	GTGAGTGA others(53): Show GTGAGTGAGTGGGTGGGTGGGTGAGTGGGCGGATGAGTGAGTGGGCGAGT GAGTGAGTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0045 a0001c0012t0001g0045	1	394	0.0025	-60	c.47 others(71): Show c.4793_*4852delTGAGTGAGTGGGTGGGTGGGTGAGTGGGCGGATG AGTGAGTGGGCGAGTGAGTGAGTGGA	CAPN1	ENSG00000014216.16	transcript	ENST00000279247.11	protein_coding		4073		chr11	TogoVar
CARM1_chr19_10866553_10928075	10871580	GGTAGCGG others(53): Show GGTAGCGGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGGCGGCA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0026 a0001c0001t0035g0026	1	354	0.0028	-60	c.-12 others(68): Show c.-121_-62delTAGCGGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCAG	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/16	62	INFO_REALIGN_3_PRIME	chr19	TogoVar
CASKIN1_chr16_2172180_2201605	2173687	CCCCTGCC others(53): Show CCCCTGCCCACCCCTGGCCCAGGGCAGCAGGGGCAGAGAGGCTGCACTGG CCCCACAGCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	350	0.0029	-60	c.48 others(71): Show c.4803_*4862delCTGCTGTGGGGCCAGTGCAGCCTCTCTGCCCCTG CTGCCCTGGGCCAGGGGTGGGCAGGG	CASKIN1	ENSG00000167971.16	transcript	ENST00000343516.8	protein_coding		3492		chr16	TogoVar
CASKIN1_chr16_2172180_2201605	2178786	ACGCCCAT others(53): Show ACGCCCATCTCTGCCGAGCCCCGCCCATCTCTGCCGAGCCCCGCCCATCT CTGCCGAGCCC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03041.hp2 HG02615.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	350	0.0057	-60	c.419 others(76): Show c.4199+56_4199+115delGGGCTCGGCAGAGATGGGCGGGGCTCGGC AGAGATGGGCGGGGCTCGGCAGAGATGGGCG	CASKIN1	ENSG00000167971.16	transcript	ENST00000343516.8	protein_coding	19/19			chr16	TogoVar
CCDC197_chr14_93992301_94013863	94011677	CACTAGTT others(53): Show CACTAGTTCAGGTACCTTACGAAATGTCATTTCATTTGACCTTCCAACTG GACCGTGGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	393	0.0025	-60	c.28 others(71): Show c.2866_*2925delACTAGTTCAGGTACCTTACGAAATGTCATTTCAT TTGACCTTCCAACTGGACCGTGGGAT	CCDC197	ENSG00000175699.15	transcript	ENST00000636493.2	protein_coding		2815		chr14	TogoVar
CCDC38_chr12_95862048_95947614	95908624	AGAGGGAG others(53): Show AGAGGGAGAGGGAGGAGAGGGAGAGGGAGAGGGAGGAGAGGGAGAGGGAG AGGGAGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02976.hp2 HG02630.hp1 HG02976.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0141 a0002c0004t0001g0144 a0002c0004t0001g0141 a0002c0004t0001g0144	2	350	0.0057	-60	c.305 others(77): Show c.305-2233_305-2174delCCCCTCTCCCTCTCCCTCTCCCTCTCCT CCCTCTCCCTCTCCCTCTCCTCCCTCTCCCTC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC40_chr17_80031642_80105613	80090341	GAACAAGG others(53): Show GAACAAGGGACGCGCGCAGGCACGTGCACGAACACAGGACACACACAGCA CGTGCATGAAC	G G	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19240.hp2 NA18951.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0003 a0001c0005t0001 a0001c0002t0003 a0001c0005t0001	a0001c0002t0003g0073 a0001c0005t0001g0324 a0001c0002t0003g0073 a0001c0005t0001g0324	2	378	0.0053	-60	c.283 others(77): Show c.2832+462_2832+521delAGGGACGCGCGCAGGCACGTGCACGAAC ACAGGACACACACAGCACGTGCATGAACAACA	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC57_chr17_82096470_82217842	82196797	ACCTGCAG others(53): Show ACCTGCAGAGACGCAGCCCCTCATGACTCCTGCACCTGCAGAGACGCAGC CCCTCGTGACT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03130.hp1 HG03540.hp2 HG02809.hp2 HG03130.hp1 HG03540.hp2	a0013 a0025 a0013 a0025	a0013c0014 a0025c0019 a0013c0014 a0025c0019	a0013c0014t0001 a0025c0019t0001 a0013c0014t0001 a0025c0019t0001	a0013c0014t0001g0019 a0013c0014t0001g0020 a0025c0019t0001g0008 a0013c0014t0001g0019 a0013c0014t0001g0020 a0025c0019t0001g0008	3	252	0.0119	-60	c.516 others(77): Show c.516+1457_517-1434delAGTCACGAGGGGCTGCGTCTCTGCAGGT GCAGGAGTCATGAGGGGCTGCGTCTCTGCAGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	3/18			chr17	TogoVar
CD36_chr7_80633642_80684274	80683568	GACATATA others(53): Show GACATATATATGTATATATACACACATATATACATATATATGTATATATA CACACATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 NA21309.hp1 HG02717.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0156 a0001c0001t0006g0189 a0001c0001t0006g0156 a0001c0001t0006g0189	2	392	0.0051	-60	c.71 others(71): Show c.7186_*7245delACATATATATGTATATATACACACATATATACAT ATATATGTATATATACACACATATAT	CD36	ENSG00000135218.19	transcript	ENST00000447544.7	protein_coding		4295		chr7	TogoVar
CD83_chr6_14112772_14141906	14128842	AATAAATT others(53): Show AATAAATTTTATTGGTGTTGCTGCTGATTTTTAAAATGAATTCTCTGCAA ATAGGCAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	438	0.0023	-60	c.154 others(77): Show c.154-2677_154-2618delATAAATTTTATTGGTGTTGCTGCTGATT TTTAAAATGAATTCTCTGCAAATAGGCAGAAG	CD83	ENSG00000112149.10	transcript	ENST00000379153.4	protein_coding	2/4			chr6	TogoVar
CDH13_chr16_82621969_83805640	82842091	CATATATA others(53): Show CATATATATATATATATATATGTATATATATATATATATATATATATACA CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0044 a0004c0013t0044	a0004c0013t0044g0001 a0004c0013t0044g0001	1	110	0.0091	-60	c.46- others(77): Show c.46-16257_46-16198delTATATATGTATATATATATATATATATA TATATACACATATATATATATATATATATATA	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83031236	CATATACA others(53): Show CATATACATGCGCATGTATACACCATATACATGCGCATGTATACACCATA TACATGCGCAT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	110	0.0091	-60	c.158 others(75): Show c.158-773_158-714delATATACATGCGCATGTATACACCATATACA TGCGCATGTATACACCATATACATGCGCAT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	2/13			chr16	TogoVar
CDH15_chr16_89166748_89200492	89182171	CCCCTCCC others(53): Show CCCCTCCCCCAGCCTGCCCTCCCCCAGCCTGCCCTCCCCCAGCCTCCCCT CCCCCAGCCTG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18963.hp2 NA19079.hp2 others(1): Show HG00673.hp1 NA18963.hp2 NA19079.hp2 NA20129.hp1	a0002 a0023 a0002 a0023	a0002c0002 a0002c0004 a0023c0043 a0002c0002 a0002c0004 a0023c0043	a0002c0002t0001 a0002c0004t0001 a0023c0043t0001 a0002c0002t0001 a0002c0004t0001 a0023c0043t0001	a0002c0002t0001g0109 a0002c0002t0001g0159 a0002c0004t0001g0132 others(1): Show a0002c0002t0001g0109 a0002c0002t0001g0159 a0002c0004t0001g0132 a0023c0043t0001g0131	4	406	0.0099	-60	c.358 others(77): Show c.358-1338_358-1279delCAGCCTCCCCTCCCCCAGCCTGCCCTCC CCCAGCCTGCCCTCCCCCAGCCTGCCCTCCCC	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH23_chr10_71391920_71820947	71403376	TTTCTTTC others(53): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTCCTTCCTTCCTTCC TTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03669.hp2 HG01891.hp2 HG03669.hp2	a0051 a0098 a0051 a0098	a0051c0147 a0098c0081 a0051c0147 a0098c0081	a0051c0147t0009 a0098c0081t0011 a0051c0147t0009 a0098c0081t0011	a0051c0147t0009g0022 a0098c0081t0011g0028 a0051c0147t0009g0022 a0098c0081t0011g0028	2	196	0.0102	-60	c.-6+ others(75): Show c.-6+6059_-6+6118delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTCTTCCTTCCTTCCTTCCTTCCTTCCTTC	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69			chr10	TogoVar
CDH23_chr10_71391920_71820947	71760110	CATATATG others(53): Show CATATATGTGTGTATATATATGTATATACATATATATGTGTGTATATATA TGTATATACAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01433.hp2 others(17): Show HG00642.hp1 HG00735.hp1 HG01433.hp2 HG01891.hp2 HG02056.hp1 HG02257.hp2 HG02559.hp1 HG02622.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03195.hp2 HG03516.hp2 NA18906.hp2 NA20129.hp2 NA20752.hp1	a0002 a0010 a0018 others(16): Show a0002 a0010 a0018 a0019 a0021 a0031 a0033 a0036 a0039 a0044 a0050 a0051 a0057 a0059 a0070 a0075 a0079 a0085 a0106	a0002c0071 a0010c0146 a0018c0134 others(17): Show a0002c0071 a0010c0146 a0018c0134 a0019c0140 a0021c0148 a0021c0158 a0031c0095 a0033c0006 a0036c0166 a0039c0144 a0044c0142 a0050c0156 a0051c0147 a0057c0161 a0059c0157 a0070c0056 a0075c0040 a0079c0080 a0085c0103 a0106c0132	a0002c0071t0003 a0010c0146t0009 a0018c0134t0013 others(17): Show a0002c0071t0003 a0010c0146t0009 a0018c0134t0013 a0019c0140t0008 a0021c0148t0003 a0021c0158t0001 a0031c0095t0001 a0033c0006t0003 a0036c0166t0001 a0039c0144t0001 a0044c0142t0013 a0050c0156t0008 a0051c0147t0009 a0057c0161t0008 a0059c0157t0029 a0070c0056t0001 a0075c0040t0001 a0079c0080t0001 a0085c0103t0001 a0106c0132t0001	a0002c0071t0003g0149 a0010c0146t0009g0042 a0018c0134t0013g0006 others(17): Show a0002c0071t0003g0149 a0010c0146t0009g0042 a0018c0134t0013g0006 a0019c0140t0008g0002 a0021c0148t0003g0188 a0021c0158t0001g0171 a0031c0095t0001g0185 a0033c0006t0003g0101 a0036c0166t0001g0187 a0039c0144t0001g0181 a0044c0142t0013g0019 a0050c0156t0008g0031 a0051c0147t0009g0022 a0057c0161t0008g0018 a0059c0157t0029g0182 a0070c0056t0001g0179 a0075c0040t0001g0135 a0079c0080t0001g0160 a0085c0103t0001g0190 a0106c0132t0001g0144	20	196	0.1020	-60	c.484 others(81): Show c.4846-17521_4846-17462delATGTATATACATATATATGTGTGT ATATATATGTATATACATATATATGTGTGTATATAT	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	38/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH23_chr10_71391920_71820947	71760187	ATATGTAT others(53): Show ATATGTATATACATATATATGTGTGTATATATGTGTATATATATGTATAT ACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG01192.hp2 others(17): Show HG00558.hp1 HG00597.hp2 HG01192.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02132.hp2 HG02280.hp2 HG03453.hp2 NA18950.hp1 NA18953.hp2 NA18966.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18994.hp1 NA18999.hp1 NA19002.hp2 NA19085.hp2 NA20300.hp2	a0002 a0003 a0004 others(9): Show a0002 a0003 a0004 a0015 a0017 a0025 a0030 a0067 a0078 a0093 a0100 a0101	a0002c0079 a0003c0022 a0004c0025 others(17): Show a0002c0079 a0003c0022 a0004c0025 a0004c0027 a0004c0035 a0004c0106 a0004c0111 a0015c0042 a0015c0043 a0015c0055 a0017c0070 a0017c0086 a0025c0117 a0030c0038 a0030c0054 a0067c0109 a0078c0092 a0093c0069 a0100c0059 a0101c0124	a0002c0079t0011 a0003c0022t0002 a0004c0025t0005 others(17): Show a0002c0079t0011 a0003c0022t0002 a0004c0025t0005 a0004c0027t0005 a0004c0035t0006 a0004c0106t0006 a0004c0111t0006 a0015c0042t0020 a0015c0043t0006 a0015c0055t0006 a0017c0070t0005 a0017c0086t0006 a0025c0117t0001 a0030c0038t0006 a0030c0054t0005 a0067c0109t0005 a0078c0092t0010 a0093c0069t0001 a0100c0059t0001 a0101c0124t0006	a0002c0079t0011g0032 a0003c0022t0002g0051 a0004c0025t0005g0123 others(17): Show a0002c0079t0011g0032 a0003c0022t0002g0051 a0004c0025t0005g0123 a0004c0027t0005g0044 a0004c0035t0006g0053 a0004c0106t0006g0057 a0004c0111t0006g0088 a0015c0042t0020g0001 a0015c0043t0006g0095 a0015c0055t0006g0043 a0017c0070t0005g0082 a0017c0086t0006g0065 a0025c0117t0001g0164 a0030c0038t0006g0052 a0030c0054t0005g0118 a0067c0109t0005g0114 a0078c0092t0010g0008 a0093c0069t0001g0163 a0100c0059t0001g0173 a0101c0124t0006g0054	20	196	0.1020	-60	c.484 others(81): Show c.4846-17482_4846-17423delCATATATATGTGTGTATATATGTG TATATATATGTATATACATATATATGTATGTATATA	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	38/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH26_chr20_59953423_60019529	59967985	TTCTTTCT others(53): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTTCTCTCTGTCTCTCTCT CTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0048 a0002c0005t0006g0048	1	288	0.0035	-60	c.70- others(73): Show c.70-978_70-919delTTCTTTCTTTCTTTCTTTCTTTCTTCCTTTCT CTCTGTCTCTCTCTCTCTCTCTCTCTCT	CDH26	ENSG00000124215.17	transcript	ENST00000348616.9	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDHR5_chr11_611583_629955	613681	ACGGGGGT others(53): Show ACGGGGGTGGGCGGGGACAGGATGTGAGTGATGGGTGGGCGGGGACAAGC CGTGAGTGACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA19009.hp1 NA19081.hp2 NA18941.hp2 NA19009.hp1 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0111 a0002c0002t0001g0002 a0002c0002t0001g0111	3	409	0.0073	-60	c.36 others(71): Show c.3610_*3669delCGTCACTCACGGCTTGTCCCCGCCCACCCATCAC TCACATCCTGTCCCCGCCCACCCCCG	CDHR5	ENSG00000099834.19	transcript	ENST00000397542.7	protein_coding		2901		chr11	TogoVar
CDK12_chr17_39456486_39539544	39481631	GCGCTCTC others(53): Show GCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp2 others(134): Show HG00099.hp1 HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18959.hp1 NA18961.hp2 NA18966.hp2 NA18975.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19054.hp1 NA19060.hp1 NA19064.hp1 NA19067.hp1 NA19079.hp2 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0001 a0002c0003 a0003c0005 others(3): Show a0001c0001 a0002c0003 a0003c0005 a0004c0004 a0005c0010 a0008c0009	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(20): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0017 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0031 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0057 a0002c0003t0016 a0003c0005t0054 a0003c0005t0055 a0004c0004t0017 a0005c0010t0001 a0008c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0035 others(133): Show a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0006g0139 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0006g0204 a0001c0001t0006g0214 a0001c0001t0006g0232 a0001c0001t0014g0130 a0001c0001t0014g0141 a0001c0001t0014g0159 a0001c0001t0017g0207 a0001c0001t0022g0162 a0001c0001t0022g0182 a0001c0001t0024g0227 a0001c0001t0024g0254 a0001c0001t0026g0148 a0001c0001t0026g0163 a0001c0001t0031g0247 a0001c0001t0044g0199 a0001c0001t0045g0231 a0001c0001t0046g0180 a0001c0001t0047g0165 a0001c0001t0048g0189 a0001c0001t0050g0150 a0001c0001t0051g0187 a0001c0001t0053g0134 a0001c0001t0057g0176 a0002c0003t0016g0117 a0002c0003t0016g0118 a0002c0003t0016g0119 a0003c0005t0054g0252 a0003c0005t0055g0251 a0004c0004t0017g0161 a0004c0004t0017g0246 a0005c0010t0001g0179 a0008c0009t0001g0167	137	260	0.5269	-60	c.193 others(79): Show c.1932-8924_1932-8865delGCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDKAL1_chr6_20529457_21237404	20756804	TTTCCTTC others(53): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTCCTTCCTTCTC CCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0011 a0001c0008t0011	a0001c0008t0011g0068 a0001c0008t0011g0068	1	196	0.0051	-60	c.469 others(77): Show c.469-1756_469-1697delTCTTCCTTCCTTCTCCCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN2A_chr9_21962752_21979857	21971800	TATGATCT others(53): Show TATGATCTTTGAACACAATGGGGAATTATTAAGTCAAGCTAAGTAACCTA TCCATCATCTC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	416	0.0024	-60	c.151 others(75): Show c.151-652_151-593delGAGATGATGGATAGGTTACTTAGCTTGACT TAATAATTCCCCATTGTGTTCAAAGATCAT	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CELF1_chr11_47460937_47558132	47541721	AGAAAGAA others(53): Show AGAAAGAACGAAAGAAAGAACGAAAGAAAGAAAGAACGAAAGAAAGAACG AAAGAAAGAAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp1 HG01243.hp1 others(29): Show HG00280.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp2 HG01884.hp2 HG02486.hp2 HG02523.hp1 HG02622.hp1 HG02886.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03831.hp2 HG03942.hp1 NA18906.hp1 NA18953.hp1 NA18971.hp1 NA18972.hp1 NA18977.hp1 NA18989.hp2 NA18990.hp1 NA19002.hp1 NA19004.hp2 NA19030.hp1 NA19063.hp1 NA19080.hp1 NA19085.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0002t0002	a0001c0001t0001g0019 a0001c0001t0001g0122 a0001c0001t0001g0125 others(29): Show a0001c0001t0001g0019 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0192 a0001c0001t0001g0202 a0001c0001t0001g0213 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0329 a0001c0001t0002g0013 a0001c0001t0002g0108 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0316 a0001c0001t0003g0087 a0001c0001t0003g0103 a0001c0001t0005g0188 a0001c0001t0005g0332 a0001c0001t0006g0117 a0001c0001t0015g0064 a0001c0002t0002g0299 a0001c0002t0002g0300	32	340	0.0941	-60	c.-15 others(81): Show c.-154+11211_-154+11270delGTTCTTTCTTTCGTTCTTTCTTTC GTTCTTTCTTTCTTTCGTTCTTTCTTTCGTTCTTTC	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14			chr11	TogoVar
CFAP221_chr2_119539449_119661661	119552689	CTTTCTTT others(53): Show CTTTCTTTAATAAGAAATAAATAGAAATATTTCTTTCTTTAATAAGAAAT AAATAGAAATA	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0107 a0003c0003t0002g0107	1	226	0.0044	-60	c.240 others(77): Show c.240+3585_240+3644delTAGAAATATTTCTTTCTTTAATAAGAAA TAAATAGAAATATTTCTTTAATAAGAAATAAA	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP299_chr4_80330730_80968750	80799616	ATATTTAT others(53): Show ATATTTATAAATATATAATATATAAAATATATATTTTATATATTATATTT TATAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	96	0.0104	-60	c.334 others(79): Show c.334-70376_334-70317delTATTTATAAATATATAATATATAAAA TATATATTTTATATATTATATTTTATAAATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5			chr4	TogoVar
CFAP299_chr4_80330730_80968750	80799618	ATTTATAA others(53): Show ATTTATAAATATATAATATATAAAATATATATTTTATATATTATATTTTA TAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	96	0.0104	-60	c.334 others(79): Show c.334-70372_334-70313delTATAAATATATAATATATAAAATATA TATTTTATATATTATATTTTATAAATATATATTT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80799626	ATATATAA others(53): Show ATATATAATATATAAAATATATATTTTATATATTATATTTTATAAATATA TATTTATAAAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	96	0.0104	-60	c.334 others(79): Show c.334-70366_334-70307delTATATAATATATAAAATATATATTTT ATATATTATATTTTATAAATATATATTTATAAAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5			chr4	TogoVar
CFAP44_chr3_113281930_113446493	113320435	GATATATA others(53): Show GATATATATGATATATATTACATCTATATATCATATATGATATATATGAT ATATAGATGTA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG00741.hp1 others(49): Show HG00621.hp2 HG00639.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03834.hp2 HG04184.hp2 NA18906.hp2 NA18951.hp1 NA18954.hp2 NA18974.hp1 NA18975.hp1 NA18980.hp1 NA18982.hp1 NA18986.hp2 NA18988.hp2 NA19010.hp1 NA19030.hp1 NA19056.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp2 NA20905.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0012	a0001c0001 a0003c0003 a0003c0007 others(3): Show a0001c0001 a0003c0003 a0003c0007 a0003c0019 a0006c0006 a0012c0012	a0001c0001t0001 a0003c0003t0003 a0003c0003t0004 others(12): Show a0001c0001t0001 a0003c0003t0003 a0003c0003t0004 a0003c0003t0011 a0003c0003t0019 a0003c0003t0049 a0003c0007t0014 a0003c0007t0023 a0003c0019t0014 a0006c0006t0003 a0006c0006t0006 a0006c0006t0011 a0006c0006t0048 a0012c0012t0003 a0012c0012t0031	a0001c0001t0001g0216 a0003c0003t0003g0004 a0003c0003t0003g0123 others(46): Show a0001c0001t0001g0216 a0003c0003t0003g0004 a0003c0003t0003g0123 a0003c0003t0003g0125 a0003c0003t0003g0126 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0131 a0003c0003t0003g0132 a0003c0003t0003g0134 a0003c0003t0003g0135 a0003c0003t0003g0136 a0003c0003t0003g0137 a0003c0003t0003g0140 a0003c0003t0003g0141 a0003c0003t0003g0143 a0003c0003t0003g0144 a0003c0003t0003g0145 a0003c0003t0003g0146 a0003c0003t0003g0148 a0003c0003t0003g0149 a0003c0003t0003g0150 a0003c0003t0003g0152 a0003c0003t0003g0159 a0003c0003t0003g0272 a0003c0003t0004g0139 a0003c0003t0011g0127 a0003c0003t0011g0151 a0003c0003t0019g0138 a0003c0003t0019g0142 a0003c0003t0049g0147 a0003c0007t0014g0003 a0003c0007t0014g0169 a0003c0007t0014g0170 a0003c0007t0023g0168 a0003c0019t0014g0166 a0003c0019t0014g0167 a0006c0006t0003g0042 a0006c0006t0006g0001 a0006c0006t0006g0029 a0006c0006t0006g0030 a0006c0006t0006g0031 a0006c0006t0011g0027 a0006c0006t0011g0028 a0006c0006t0048g0033 a0012c0012t0003g0156 a0012c0012t0031g0157 a0012c0012t0031g0158	52	348	0.1494	-60	c.451 others(79): Show c.4516+5950_4516+6009delTACATCTATATATCATATATATCATA TATGATATATAGATGTAATATATATCATATATAT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	28/34			chr3	TogoVar
CFAP54_chr12_96484577_96880555	96664725	CTATATAT others(53): Show CTATATATATATATCTATATATATATATATCTATATATATCTATATCTAT ATCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0249 a0003c0002t0001g0249	1	268	0.0037	-60	c.556 others(77): Show c.5563+807_5563+866delCTATATATATATATATCTATATATATCT ATATCTATATCTATATATATATATATATATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96664755	CTATATAT others(53): Show CTATATATATCTATATCTATATCTATATATATATATATATATATATATAT ATATATATAGA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01516.hp2 HG02148.hp2 others(8): Show HG00673.hp1 HG01516.hp2 HG02148.hp2 HG02293.hp2 NA18612.hp1 NA18942.hp2 NA18969.hp2 NA19030.hp1 NA19077.hp2 NA19079.hp1 NA20805.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0012 a0006c0006 others(1): Show a0001c0001 a0001c0012 a0006c0006 a0006c0010	a0001c0001t0001 a0001c0012t0001 a0006c0006t0001 others(1): Show a0001c0001t0001 a0001c0012t0001 a0006c0006t0001 a0006c0010t0001	a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0050 others(8): Show a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0068 a0001c0001t0001g0166 a0001c0012t0001g0072 a0006c0006t0001g0044 a0006c0006t0001g0051 a0006c0006t0001g0096 a0006c0010t0001g0153	11	268	0.0410	-60	c.556 others(77): Show c.5563+833_5563+892delCTATATCTATATCTATATATATATATAT ATATATATATATATATATATAGATATATATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP69_chr7_90240174_90316063	90290743	GTCTTTTC others(53): Show GTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTT	G G	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0317 a0001c0003t0001g0317	1	338	0.0030	-60	c.177 others(79): Show c.1775+2413_1775+2472delCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	CFAP69	ENSG00000105792.19	transcript	ENST00000389297.8	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFAP99_chr4_2413955_2468002	2447224	GCATGGAA others(53): Show GCATGGAAGGATAAGTGGATGGATAGATGGATGACTGGATGGATGGATGG ATGGATGGACA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0038 a0001c0006t0002g0038	1	350	0.0029	-60	c.642 others(77): Show c.642+1933_642+1992delGATGGATAGATGGATGACTGGATGGATG GATGGATGGATGGACACATGGAAGGATAAGTG	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CHCHD6_chr3_126699240_126965420	126863047	ACCTCCTC others(53): Show ACCTCCTCCTCCTCCTCCACCATCATCACCTCCTCCTCCTCCTCCACCAT CACCACCTCCT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01123.hp1 HG02148.hp1 HG00323.hp1 HG01123.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093	3	216	0.0139	-60	c.495 others(79): Show c.495+10329_495+10388delTCCTCCACCATCATCACCTCCTCCTC CTCCTCCACCATCACCACCTCCTCCTCCTCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD8_chr14_21380199_21461123	21442718	AGGGAGGA others(53): Show AGGGAGGAGAGGGGAAGAGACGGGAGGAGAGGGGAGGAGAGGGGAGGAGA GGGGAGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0126 a0001c0006t0001g0126	1	260	0.0039	-60	c.-21 others(81): Show c.-215-10920_-215-10861delCTCTCCTCCCCTCTCCTCCCCTCT CCTCCCCTCTCCTCCCGTCTCTTCCCCTCTCCTCCC	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	1/37			chr14	TogoVar
CHRDL1_chrX_110668856_110800817	110689478	ATATATCT others(53): Show ATATATCTATATCTCTATATATCTATATATCTATATCTCTATATATCTAT CTATATATCTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(6): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG01167.hp1 HG01258.hp1 HG01433.hp1 HG01515.hp1 HG02083.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 others(1): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007	a0001c0002t0003g0156 a0001c0002t0004g0051 a0001c0002t0004g0053 others(6): Show a0001c0002t0003g0156 a0001c0002t0004g0051 a0001c0002t0004g0053 a0001c0002t0004g0151 a0001c0002t0004g0153 a0001c0002t0004g0157 a0001c0002t0006g0099 a0001c0002t0007g0052 a0001c0002t0007g0122	9	172	0.0523	-60	c.779 others(75): Show c.779-735_779-676delGAGATATATAGATAGATATATAGAGATATA GATATATAGATATATAGAGATATAGATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRNA7_chr15_32025515_32178018	32038079	CATATGTA others(53): Show CATATGTACATACATTTTGTGTATATGTAAAATATGTGTACATGTTTACA TTTATGTATAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01496.hp1 others(4): Show HG01070.hp2 HG01071.hp1 HG01496.hp1 HG02257.hp1 HG02630.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0010	a0001c0001t0013 a0001c0002t0005 a0001c0004t0009 others(2): Show a0001c0001t0013 a0001c0002t0005 a0001c0004t0009 a0001c0006t0010 a0001c0010t0009	a0001c0001t0013g0108 a0001c0002t0005g0111 a0001c0004t0009g0109 others(4): Show a0001c0001t0013g0108 a0001c0002t0005g0111 a0001c0004t0009g0109 a0001c0004t0009g0110 a0001c0006t0010g0112 a0001c0010t0009g0113 a0001c0010t0009g0114	7	307	0.0228	-60	c.195 others(77): Show c.195+7062_195+7121delGTATATGTAAAATATGTGTACATGTTTA CATTTATGTATAAATATGTACATACATTTTGT	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHST15_chr10_124002668_124098598	124056862	TGTACGAC others(53): Show TGTACGACCGGACACTCTGCGGCCCAGGCCTGTACGACCGGACACATTGC AGCCTGGGCCC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0216 a0001c0001t0010g0216	1	392	0.0026	-60	c.-51 others(81): Show c.-512-10198_-512-10139delGGGCCCAGGCTGCAATGTGTCCGG TCGTACAGGCCTGGGCCGCAGAGTGTCCGGTCGTAC	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	1/7			chr10	TogoVar
CHST8_chr19_33616953_33778506	33618397	GTCTTCTT others(53): Show GTCTTCTTCTTCTTCTTCTTCTTCCTCGTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0015 a0001c0003t0003g0015	1	254	0.0039	-60	c.-40 others(71): Show c.-4062_-4003delTCTTCTTCTTCTTCTTCTTCTTCCTCGTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding		3555		chr19	TogoVar
CHST8_chr19_33616953_33778506	33757387	GAAGAAAG others(53): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03710.hp2 HG00099.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0134 a0001c0001t0001g0021 a0001c0001t0001g0134	2	254	0.0079	-60	c.131 others(79): Show c.131-13949_131-13890delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757466	GAAAGAAA others(53): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	254	0.0039	-60	c.131 others(79): Show c.131-13945_131-13886delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757474	GAAAGAAA others(53): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	254	0.0039	-60	c.131 others(79): Show c.131-13937_131-13878delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757478	GAAAGAAA others(53): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAA GAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	254	0.0039	-60	c.131 others(79): Show c.131-13933_131-13874delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHSY1_chr15_101170727_101257048	101174724	CCCTGTGG others(53): Show CCCTGTGGAACGGGGGATGATAGACGCAGGGACAGCAGCCAGGCTGAGGA GGGCCCGGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG02027.hp2 HG00609.hp1 HG02027.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0380 a0003c0006t0006g0381 a0003c0006t0006g0380 a0003c0006t0006g0381	2	422	0.0047	-60	c.26 others(71): Show c.2604_*2663delCACCCGGGCCCTCCTCAGCCTGGCTGCTGTCCCT GCGTCTATCATCCCCCGTTCCACAGG	CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding		1002		chr15	TogoVar
CIBAR1_chr8_93695550_93736527	93733139	ATGAATGA others(53): Show ATGAATGAACTCAGGGAATGAGTTCTTTCTCCCCATCAAAGAAAAAAACA GCATGTGTAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0053 a0001c0001t0005g0053	1	374	0.0027	-60	c.48 others(71): Show c.4843_*4902delTGAATGAACTCAGGGAATGAGTTCTTTCTCCCCA TCAAAGAAAAAAACAGCATGTGTAAT	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding		1613		chr8	TogoVar
CLASP2_chr3_33491245_33723254	33708480	GTGTGTGT others(53): Show GTGTGTGTATGTATATATATATATATGTATATATATGTATATATGTATAT ATATATGTATA	G G	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0002 a0001c0008t0001g0002	1	278	0.0036	-60	c.195 others(77): Show c.195+9268_195+9327delTATACATATATATATACATATATACATA TATATACATATATATATATATACATACACACA	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	1/38			chr3	TogoVar
CLMP_chr11_123064872_123200248	123118959	TTCTTTCT others(53): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCT CTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0221 a0001c0001t0028g0221	1	254	0.0039	-60	c.29- others(77): Show c.29-21067_29-21008delGAGAGAGAGAGAGAGAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLN8_chr8_1758789_1791570	1763538	CCGCCCCC others(53): Show CCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGC CCCGCCCCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0176 a0001c0001t0022g0176	1	413	0.0024	-60	c.-47 others(69): Show c.-470_-411delCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCG CCCCCCGCCGCGCCCCGCCCCCCG	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		250		chr8	TogoVar
CLPX_chr15_65143219_65190342	65145958	AAAATATA others(53): Show AAAATATATATATAAATATATATATAAATATATATATAAATATATATATA AATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 NA20300.hp1 HG02965.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0136 a0001c0001t0002g0010 a0001c0001t0002g0136	2	190	0.0105	-60	c.48 others(71): Show c.4805_*4864delATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTT	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2260		chr15	TogoVar
CLSTN2_chr3_139930185_140582397	140490012	ATGTGTGT others(53): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19030.hp2 HG03579.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0002c0002t0002 a0001c0001t0013 a0002c0002t0002	a0001c0001t0013g0017 a0002c0002t0002g0002 a0001c0001t0013g0017 a0002c0002t0002g0002	2	110	0.0182	-60	c.134 others(81): Show c.1344+23299_1344+23358delGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNST_chr1_246561456_246673595	246605759	GGCCGGGG others(53): Show GGCCGGGGTAGGTGTCTTCCGGCCGGGGTAGGTGTCTTCCGGCCGGGGTG CGTGTCTTCCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp1 others(29): Show HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01515.hp1 HG01515.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02293.hp1 HG02602.hp2 HG03209.hp1 HG04228.hp1 NA18950.hp2 NA18954.hp2 NA18962.hp1 NA18964.hp2 NA18993.hp2 NA19087.hp1 NA19089.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0001c0001t0020	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 others(28): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0312 a0001c0001t0002g0002 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0002g0083 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0003g0055 a0001c0001t0019g0106 a0001c0001t0020g0024	32	320	0.1000	-60	c.379 others(79): Show c.379+13847_379+13906delAGGTGTCTTCCGGCCGGGGTGCGTGT CTTCCAGCCGGGGTAGGTGTCTTCCGGCCGGGGT	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results