Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CBL_chr11_119201339_119313149	119264398	CTTCTCTT others(37): Show CTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT	C C	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0336 a0001c0001t0002g0336	1	364	0.0028	-44	c.444 others(61): Show c.444-7314_444-7271delCTCTTCTCTTCTCTTCTCTTCTTTCTCT TCTCTTCTCTTCTCTT		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119276974	AGTGGTTC others(37): Show AGTGGTTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGACGG	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0163 a0001c0001t0001g0165	2	364	0.0055	-44	c.100 others(61): Show c.1008-778_1008-735delTTCACACCTGTGATCCCAGCACTTTGGG AGGCCGAGACGGGTGG		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
CCBE1_chr18_59425939_59702423	59658354	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0167 a0001c0001t0018g0167	1	242	0.0041	-44	c.212 others(63): Show c.212+38231_212+38274delATATATATATATATATATATATATAT ATATATATATATATATAT		CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10						chr18	TogoVar
CCDC146_chr7_77117615_77300204	77271513	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03471.hp1 HG02895.hp2 HG02897.hp2 HG03471.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0002g0131 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0002g0131	3	248	0.0121	-44	c.117 others(63): Show c.1174-2168_1174-2125delATATATATATATATATATATATATAT ATATATATATATATATAT		CCDC146	ENSG00000135205.15	transcript	ENST00000285871.5	protein_coding	9/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC148_chr2_158166073_158461753	158293986	CTCCCTCC others(37): Show CTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20300.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0121 a0001c0001t0002g0120 a0001c0001t0001g0121 a0001c0001t0002g0120	2	264	0.0076	-44	c.111 others(65): Show c.1110+15403_1110+15446delAGGAAGGAAGGAAGGAAGGAAGGA AGGAGGGAGGGAGGGAGGGA		CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	9/13						chr2	TogoVar
CCDC148_chr2_158166073_158461753	158293990	CTCCCTCC others(37): Show CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02451.hp2 others(6): Show HG02055.hp1 HG02109.hp1 HG02451.hp2 HG02630.hp1 HG02886.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 others(6): Show a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0002g0136 a0001c0001t0003g0065 a0001c0001t0004g0115	9	264	0.0341	-44	c.111 others(65): Show c.1110+15399_1110+15442delAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAGGGAGGGAGGGA		CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	9/13						chr2	TogoVar
CCDC183_chr9_136791338_136812741	136792999	CCCCAACC others(37): Show CCCCAACCTGGGACCTGCCCAGGAGGTTGGAGCAGAAAGGGCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00558.hp2 others(41): Show HG00099.hp1 HG00438.hp2 HG00558.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG02027.hp2 HG02040.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp1 HG02280.hp2 HG02572.hp2 HG02818.hp2 HG02886.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 NA18612.hp2 NA18906.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18983.hp2 NA18985.hp1 NA18994.hp1 NA19011.hp2 NA19058.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19080.hp2 NA19087.hp2	a0003 a0005 a0006 others(4): Show a0003 a0005 a0006 a0009 a0013 a0029 a0030	a0003c0003 a0005c0005 a0006c0006 others(5): Show a0003c0003 a0005c0005 a0006c0006 a0009c0007 a0013c0016 a0013c0017 a0029c0013 a0030c0015	a0003c0003t0002 a0005c0005t0001 a0006c0006t0001 others(5): Show a0003c0003t0002 a0005c0005t0001 a0006c0006t0001 a0009c0007t0002 a0013c0016t0002 a0013c0017t0002 a0029c0013t0002 a0030c0015t0002	a0003c0003t0002g0023 a0003c0003t0002g0024 a0003c0003t0002g0079 others(40): Show a0003c0003t0002g0023 a0003c0003t0002g0024 a0003c0003t0002g0079 a0003c0003t0002g0080 a0003c0003t0002g0081 a0003c0003t0002g0089 a0003c0003t0002g0090 a0003c0003t0002g0091 a0003c0003t0002g0092 a0003c0003t0002g0101 a0003c0003t0002g0102 a0003c0003t0002g0103 a0003c0003t0002g0104 a0003c0003t0002g0105 a0003c0003t0002g0106 a0003c0003t0002g0107 a0003c0003t0002g0108 a0003c0003t0002g0109 a0003c0003t0002g0110 a0003c0003t0002g0111 a0003c0003t0002g0112 a0003c0003t0002g0114 a0003c0003t0002g0115 a0003c0003t0002g0116 a0003c0003t0002g0117 a0003c0003t0002g0118 a0003c0003t0002g0119 a0003c0003t0002g0124 a0005c0005t0001g0088 a0006c0006t0001g0093 a0006c0006t0001g0094 a0006c0006t0001g0095 a0006c0006t0001g0096 a0006c0006t0001g0097 a0006c0006t0001g0098 a0006c0006t0001g0099 a0009c0007t0002g0004 a0009c0007t0002g0100 a0009c0007t0002g0113 a0013c0016t0002g0082 a0013c0017t0002g0120 a0029c0013t0002g0122 a0030c0015t0002g0123	44	398	0.1106	-44	c.-33 others(55): Show c.-3398_-3355delCCCAACCTGGGACCTGCCCAGGAGGTTGGAGCAG AAAGGGCTCT		CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding					3338		chr9	TogoVar
CCDC187_chr9_136244973_136309094	136293355	ACACATTC others(37): Show ACACATTCACATGCTCACACACTCACACTCACATGCTCACACACT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18985.hp1 HG03491.hp2 NA18985.hp1	a0030 a0032 a0030 a0032	a0030c0018 a0032c0022 a0030c0018 a0032c0022	a0030c0018t0004 a0032c0022t0020 a0030c0018t0004 a0032c0022t0020	a0030c0018t0004g0250 a0032c0022t0020g0275 a0030c0018t0004g0250 a0032c0022t0020g0275	2	400	0.0050	-44	c.833 others(61): Show c.833-1104_833-1061delAGTGTGTGAGCATGTGAGTGTGAGTGTG TGAGCATGTGAATGTG		CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	4/25						chr9	TogoVar
CCDC60_chr12_119329729_119546040	119364129	AGCTAGGA others(37): Show AGCTAGGATATTTGCTTCCCTTCCTTCTTCTCTCCTTCCTTCCTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0175	1	256	0.0039	-44	c.90+ others(61): Show c.90+28864_90+28907delGCTAGGATATTTGCTTCCCTTCCTTCTT CTCTCCTTCCTTCCTT		CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	1/13						chr12	TogoVar
CCDC88A_chr2_55282842_55424856	55384556	TATACACA others(37): Show TATACACATATATACGTATATATGTGTATATATACACATATATAC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0006 a0006c0011t0006	a0006c0011t0006g0010 a0006c0011t0006g0010	1	316	0.0032	-44	c.273 others(61): Show c.273+4178_273+4221delGTATATATGTGTATATATACACATATAT ACGTATATATGTGTAT		CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32						chr2	TogoVar
CCNDBP1_chr15_43180403_43202177	43200162	TCTTTTGG others(37): Show TCTTTTGGTGACAGACTTCCTTTGGGGAGCTTTGCCCCACAACTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0001 a0001c0001t0016g0001	1	358	0.0028	-44	c.53 others(55): Show c.5322_*5365delCTTTTGGTGACAGACTTCCTTTGGGGAGCTTTGC CCCACAACTG		CCNDBP1	ENSG00000166946.14	transcript	ENST00000300213.9	protein_coding					2986		chr15	TogoVar
CCNI2_chr5_132742426_132759403	132742933	CCCTTCCT others(37): Show CCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCATCCCTCCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01167.hp1 others(38): Show HG01069.hp1 HG01071.hp2 HG01167.hp1 HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA19030.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0005 a0004c0008 others(1): Show a0001c0001 a0001c0005 a0004c0008 a0007c0010	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 others(14): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0020 a0001c0001t0025 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0005t0016 a0001c0005t0032 a0004c0008t0005 a0004c0008t0006 a0007c0010t0010	a0001c0001t0005g0008 a0001c0001t0005g0036 a0001c0001t0006g0006 others(17): Show a0001c0001t0005g0008 a0001c0001t0005g0036 a0001c0001t0006g0006 a0001c0001t0006g0035 a0001c0001t0008g0008 a0001c0001t0010g0006 a0001c0001t0011g0005 a0001c0001t0013g0005 a0001c0001t0017g0008 a0001c0001t0020g0005 a0001c0001t0020g0023 a0001c0001t0025g0008 a0001c0001t0028g0021 a0001c0001t0030g0005 a0001c0001t0031g0005 a0001c0005t0016g0005 a0001c0005t0032g0005 a0004c0008t0005g0016 a0004c0008t0006g0016 a0007c0010t0010g0006	41	362	0.1133	-44	c.-45 others(55): Show c.-4562_-4519delCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCATCC CTCCTTTCTT		CCNI2	ENSG00000205089.8	transcript	ENST00000378731.6	protein_coding					4492		chr5	TogoVar
CCNL2_chr1_1380711_1404335	1385493	TCGCCCGG others(37): Show TCGCCCGGCCTCCCACAGCGCTGGGATTACAGGCGTGAGCCACCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03209.hp2 HG03453.hp2 HG02922.hp1 HG03209.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0051 a0001c0001t0003g0103 a0001c0001t0003g0104	3	370	0.0081	-44	c.16 others(55): Show c.1694_*1737delCGGTGGCTCACGCCTGTAATCCCAGCGCTGTGGG AGGCCGGGCG		CCNL2	ENSG00000221978.13	transcript	ENST00000400809.8	protein_coding					217		chr1	TogoVar
CCNL2_chr1_1380711_1404335	1385527	GTGAGCCA others(37): Show GTGAGCCACCGCGCCCGGCCTCCCACGGCGCTGGGATTACAGGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0213 a0005c0005t0002g0213	1	370	0.0027	-44	c.16 others(55): Show c.1660_*1703delGGCCTGTAATCCCAGCGCCGTGGGAGGCCGGGCG CGGTGGCTCA		CCNL2	ENSG00000221978.13	transcript	ENST00000400809.8	protein_coding					183		chr1	TogoVar
CD163L1_chr12_7349960_7449153	7421366	TGTATATA others(37): Show TGTATATATACATTTGGAAGATATATATGTATATATATCTTCCAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG01069.hp2 others(31): Show HG00408.hp1 HG00673.hp1 HG01069.hp2 HG01099.hp1 HG01943.hp1 HG02056.hp2 HG02074.hp2 HG02132.hp2 HG02615.hp2 HG02895.hp1 HG03486.hp2 HG03688.hp1 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18941.hp2 NA18943.hp2 NA18946.hp1 NA18967.hp2 NA18975.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18991.hp2 NA18994.hp1 NA19011.hp1 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19068.hp2 NA19078.hp1 NA19081.hp1 NA19084.hp1 NA20300.hp2	a0002 a0003 a0012 others(1): Show a0002 a0003 a0012 a0018	a0002c0003 a0003c0005 a0012c0016 others(1): Show a0002c0003 a0003c0005 a0012c0016 a0018c0031	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(4): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0003c0005t0001 a0003c0005t0002 a0012c0016t0001 a0018c0031t0001	a0002c0003t0001g0005 a0002c0003t0001g0007 a0002c0003t0001g0022 others(28): Show a0002c0003t0001g0005 a0002c0003t0001g0007 a0002c0003t0001g0022 a0002c0003t0001g0024 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0049 a0002c0003t0001g0052 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0060 a0002c0003t0001g0064 a0002c0003t0001g0089 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0094 a0002c0003t0002g0059 a0002c0003t0003g0050 a0002c0003t0003g0051 a0003c0005t0001g0006 a0003c0005t0001g0025 a0003c0005t0001g0062 a0003c0005t0002g0026 a0003c0005t0002g0027 a0012c0016t0001g0031 a0012c0016t0001g0056 a0018c0031t0001g0053	34	384	0.0885	-44	c.766 others(63): Show c.766+11006_766+11049delTTGGAAGATATATATACATATATATC TTCCAAATGTATATATAC		CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	4/19						chr12	TogoVar
CD163L1_chr12_7349960_7449153	7421458	TATATACA others(37): Show TATATACATATATATACATATATGTACATATATACATATATGTAC	T T	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0049 a0002c0003t0001g0049	1	384	0.0026	-44	c.766 others(63): Show c.766+10914_766+10957delGTACATATATGTATATATGTACATAT ATGTATATATATGTATAT		CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	4/19						chr12	TogoVar
CD200_chr3_112328156_112367812	112342306	CTTTCTTC others(37): Show CTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	408	0.0025	-44	c.94+ others(59): Show c.94+1326_94+1369delTCTTCTTTCTTTCTTTCTTTCTTTCTTTCC TTCTTTCTTTCTTT		CD200	ENSG00000091972.18	transcript	ENST00000315711.12	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
CD247_chr1_167425640_167523529	167506245	CCTTTTCT others(37): Show CCTTTTCTTTTCTTTTCTTTTCTTTTCCTTTTCTTTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02055.hp2 others(18): Show HG01884.hp1 HG01884.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02257.hp2 HG02572.hp1 HG02630.hp2 HG03130.hp2 HG03225.hp2 HG03471.hp1 HG03688.hp1 HG03688.hp2 HG04228.hp1 NA18522.hp2 NA18941.hp1 NA18963.hp1 NA18965.hp2 NA19004.hp1 NA19043.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0091 others(18): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0204 a0001c0001t0001g0219 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0002g0031 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0287 a0001c0001t0002g0306 a0001c0001t0002g0353 a0001c0001t0003g0354 a0001c0001t0007g0030 a0001c0001t0007g0083 a0001c0002t0001g0355	21	374	0.0562	-44	c.58+ others(61): Show c.58+12119_58+12162delAAGAAAAGAAAAGAAAAGGAAAAGAAAA GAAAAGAAAAGAAAAG		CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	1/7						chr1	TogoVar
CD72_chr9_35604982_35623413	35618868	GGGCCAGA others(37): Show GGGCCAGAGGTGAAGGTAAGGAAGAGCCATGGCTGCAGCACCTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0029 a0005c0006t0001g0029	1	390	0.0026	-44	c.-60 others(53): Show c.-609_-566delAGAGGTGCTGCAGCCATGGCTCTTCCTTACCTTCAC CTCTGGCC		CD72	ENSG00000137101.14	transcript	ENST00000259633.9	protein_coding					456		chr9	TogoVar
CDADC1_chr13_49242925_49298485	49275712	TATATATA others(37): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG04228.hp1 HG02895.hp2 HG02897.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0227 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0003g0227 a0001c0001t0004g0040 a0001c0001t0004g0041	3	368	0.0082	-44	c.105 others(63): Show c.1050+1374_1050+1417delTATATATATATATAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGA		CDADC1	ENSG00000102543.14	transcript	ENST00000251108.10	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr13	TogoVar
CDC23_chr5_138182650_138218323	138195537	TTTATATA others(37): Show TTTATATATAATATAATTATATATAATATATTTATATATAATATA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03579.hp1 NA21309.hp2 HG02976.hp1 HG03579.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0040 a0001c0003t0003g0171 a0001c0003t0003g0040 a0001c0003t0003g0171	3	392	0.0077	-44	c.101 others(63): Show c.1012+2618_1012+2661delTATATTATATATAAATATATTATATA TAATTATATTATATATAA		CDC23	ENSG00000094880.11	transcript	ENST00000394886.7	protein_coding	9/15						chr5	TogoVar
CDC42_chr1_22047709_22106360	22054909	ATATATAT others(37): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0220 a0001c0001t0034g0220	1	352	0.0028	-44	c.-51 others(61): Show c.-51+2169_-51+2212delATATATATATATTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT		CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC42_chr1_22047709_22106360	22054911	ATATATAT others(37): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0214 a0001c0001t0087g0214	1	352	0.0028	-44	c.-51 others(61): Show c.-51+2171_-51+2214delATATATATATTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT		CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH12_chr5_21745673_22858344	22244740	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp1 HG03579.hp2 others(4): Show HG02258.hp1 HG03486.hp1 HG03579.hp2 HG03669.hp1 HG06807.hp1 NA18906.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0013 a0001c0002t0004 others(4): Show a0001c0001t0008 a0001c0001t0013 a0001c0002t0004 a0001c0002t0011 a0001c0002t0015 a0001c0002t0024 a0001c0002t0027	a0001c0001t0008g0044 a0001c0001t0013g0049 a0001c0002t0004g0008 others(4): Show a0001c0001t0008g0044 a0001c0001t0013g0049 a0001c0002t0004g0008 a0001c0002t0011g0009 a0001c0002t0015g0032 a0001c0002t0024g0007 a0001c0002t0027g0036	7	60	0.1167	-44	c.-33 others(65): Show c.-332-32141_-332-32098delCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT		CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	3/14						chr5	TogoVar
CDH13_chr16_82621969_83805640	83254949	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00597.hp2 others(52): Show HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01099.hp1 HG01099.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG02027.hp2 HG02055.hp2 HG02257.hp2 HG02258.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03942.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0034 a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0013 a0001c0002t0014 a0001c0002t0017 a0001c0002t0022 a0001c0003t0001 a0001c0003t0004 a0001c0003t0011 a0001c0004t0003 a0001c0004t0016 a0001c0005t0005 a0001c0005t0014 a0001c0005t0039 a0001c0006t0006 a0001c0006t0031 a0001c0007t0001 a0001c0011t0035	a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0053 others(52): Show a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0053 a0001c0001t0001g0104 a0001c0001t0002g0007 a0001c0001t0002g0028 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0076 a0001c0001t0002g0089 a0001c0001t0003g0085 a0001c0001t0005g0054 a0001c0001t0006g0033 a0001c0001t0007g0041 a0001c0001t0007g0063 a0001c0001t0008g0052 a0001c0001t0008g0067 a0001c0001t0011g0081 a0001c0001t0013g0006 a0001c0001t0024g0018 a0001c0001t0025g0071 a0001c0001t0026g0070 a0001c0001t0034g0010 a0001c0001t0037g0022 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0084 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0002g0043 a0001c0002t0005g0082 a0001c0002t0005g0101 a0001c0002t0006g0037 a0001c0002t0007g0100 a0001c0002t0013g0092 a0001c0002t0014g0109 a0001c0002t0017g0014 a0001c0002t0022g0031 a0001c0003t0001g0004 a0001c0003t0004g0003 a0001c0003t0004g0057 a0001c0003t0004g0091 a0001c0003t0004g0093 a0001c0003t0004g0110 a0001c0003t0011g0073 a0001c0004t0003g0096 a0001c0004t0003g0103 a0001c0004t0016g0056 a0001c0005t0005g0015 a0001c0005t0014g0040 a0001c0005t0039g0017 a0001c0006t0006g0069 a0001c0006t0031g0005 a0001c0007t0001g0080 a0001c0011t0035g0074	55	110	0.5000	-44	c.636 others(63): Show c.636+37474_636+37517delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT		CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH15_chr16_89166748_89200492	89182146	CCCCCAGC others(37): Show CCCCCAGCCTGCCCTCCCCCAGCCTCCCCTCCCCCAGCCTGCCCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0137 a0002c0004t0001g0137	1	406	0.0025	-44	c.358 others(61): Show c.358-1397_358-1354delAGCCTGCCCTCCCCCAGCCTCCCCTCCC CCAGCCTGCCCTCCCC		CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH23_chr10_71391920_71820947	71403380	TTTCTTTC others(37): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0079 a0002c0079	a0002c0079t0011 a0002c0079t0011	a0002c0079t0011g0032 a0002c0079t0011g0032	1	196	0.0051	-44	c.-6+ others(59): Show c.-6+6063_-6+6106delTTCTTTCTTTCTTTCTTTCTTTCTTTCTCT TCCTTCCTTCCTTC		CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69						chr10	TogoVar
CDH23_chr10_71391920_71820947	71403388	TTTCTTTC others(37): Show TTTCTTTCTTTCTTTCTTTCTCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0019 a0019	a0019c0145 a0019c0145	a0019c0145t0009 a0019c0145t0009	a0019c0145t0009g0023 a0019c0145t0009g0023	1	196	0.0051	-44	c.-6+ others(59): Show c.-6+6071_-6+6114delTTCTTTCTTTCTTTCTTTCTCTTCCTTCCT TCCTTCCTTCCTTC		CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69						chr10	TogoVar
CDH23_chr10_71391920_71820947	71403392	TTTCTTTC others(37): Show TTTCTTTCTTTCTTTCTCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA20905.hp1 NA18953.hp2 NA20905.hp1	a0054 a0078 a0054 a0078	a0054c0155 a0078c0092 a0054c0155 a0078c0092	a0054c0155t0022 a0078c0092t0010 a0054c0155t0022 a0078c0092t0010	a0054c0155t0022g0027 a0078c0092t0010g0008 a0054c0155t0022g0027 a0078c0092t0010g0008	2	196	0.0102	-44	c.-6+ others(59): Show c.-6+6075_-6+6118delTTCTTTCTTTCTTTCTCTTCCTTCCTTCCT TCCTTCCTTCCTTC		CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69						chr10	TogoVar
CDH26_chr20_59953423_60019529	59953953	TATATATA others(37): Show TATATATATATATATATATATATATATATAGAGAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0049 a0002c0005t0006g0049	1	288	0.0035	-44	c.-47 others(55): Show c.-4773_-4730delATATATATATATATATATATATATATATAGAGAG AGAGAGAGAG		CDH26	ENSG00000124215.17	transcript	ENST00000348616.9	protein_coding					4469		chr20	TogoVar
CDH26_chr20_59953423_60019529	59953957	TATATATA others(37): Show TATATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 NA18971.hp2 HG02109.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0123 a0001c0001t0003g0251 a0001c0001t0001g0123 a0001c0001t0003g0251	2	288	0.0069	-44	c.-47 others(55): Show c.-4769_-4726delATATATATATATATATATATATATAGAGAGAGAG AGAGAGAGAG		CDH26	ENSG00000124215.17	transcript	ENST00000348616.9	protein_coding					4465		chr20	TogoVar
CDH4_chr20_61247261_61945617	61383746	GATATATG others(37): Show GATATATGCATATATATGAAGATATATATGCATATATATGAAGAT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0102 a0002c0002t0023g0102	1	106	0.0094	-44	c.169 others(65): Show c.169+128840_169+128883delATATATATGAAGATATATATGCAT ATATATGAAGATATATATGC		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61562076	GCCTCCGT others(37): Show GCCTCCGTGTGGAGAGGTGGACCCCAGGGCTCCCGGAGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18952.hp1 HG00423.hp2 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0016 a0002c0008t0001 a0002c0002t0016 a0002c0008t0001	a0002c0002t0016g0073 a0002c0008t0001g0028 a0002c0002t0016g0073 a0002c0008t0001g0028	2	106	0.0189	-44	c.170 others(65): Show c.170-181445_170-181402delGGACCTCCGTGTGGAGAGGTGGAC CCCAGGGCTCCCGGAGAGAG		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CDHR5_chr11_611583_629955	628919	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG03453.hp1 HG02896.hp1 HG03453.hp1	a0002 a0019 a0002 a0019	a0002c0002 a0019c0053 a0002c0002 a0019c0053	a0002c0002t0001 a0019c0053t0002 a0002c0002t0001 a0019c0053t0002	a0002c0002t0001g0024 a0019c0053t0002g0050 a0002c0002t0001g0024 a0019c0053t0002g0050	2	409	0.0049	-44	c.-40 others(55): Show c.-4061_-4018delGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA		CDHR5	ENSG00000099834.19	transcript	ENST00000397542.7	protein_coding					3965		chr11	TogoVar
CDHR5_chr11_611583_629955	628921	CTTTCTTT others(37): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(71): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG02015.hp1 HG02109.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03688.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18967.hp1 NA19000.hp2 NA19043.hp1 NA19084.hp1 NA19086.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0011 a0012 a0017 a0023 a0024	a0001c0001 a0002c0002 a0002c0010 others(9): Show a0001c0001 a0002c0002 a0002c0010 a0003c0003 a0003c0004 a0005c0007 a0005c0030 a0011c0019 a0012c0024 a0017c0048 a0023c0025 a0024c0036	a0001c0001t0001 a0002c0002t0003 a0002c0010t0002 others(10): Show a0001c0001t0001 a0002c0002t0003 a0002c0010t0002 a0003c0003t0002 a0003c0003t0007 a0003c0004t0002 a0005c0007t0002 a0005c0030t0002 a0011c0019t0002 a0012c0024t0002 a0017c0048t0002 a0023c0025t0001 a0024c0036t0001	a0001c0001t0001g0001 a0001c0001t0001g0061 a0002c0002t0003g0046 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0061 a0002c0002t0003g0046 a0002c0010t0002g0017 a0002c0010t0002g0030 a0003c0003t0002g0003 a0003c0003t0002g0021 a0003c0003t0002g0034 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0065 a0003c0003t0002g0068 a0003c0003t0007g0063 a0003c0004t0002g0005 a0003c0004t0002g0008 a0003c0004t0002g0032 a0003c0004t0002g0059 a0005c0007t0002g0006 a0005c0030t0002g0062 a0011c0019t0002g0022 a0012c0024t0002g0033 a0017c0048t0002g0064 a0023c0025t0001g0049 a0024c0036t0001g0060	74	409	0.1809	-44	c.-40 others(55): Show c.-4063_-4020delAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA		CDHR5	ENSG00000099834.19	transcript	ENST00000397542.7	protein_coding					3967		chr11	TogoVar
CDK10_chr16_89681689_89701354	89683392	CGCACCAC others(37): Show CGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	422	0.0024	-44	c.-33 others(55): Show c.-3318_-3275delGCACCACTGCACTCCAGCCTGGGCGACAGAGCAA GACTCCGTCT		CDK10	ENSG00000185324.22	transcript	ENST00000353379.12	protein_coding					3296		chr16	TogoVar
CDK12_chr17_39456486_39539544	39481668	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02257.hp1 others(1): Show HG01070.hp1 HG01071.hp2 HG02257.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0015 a0001c0001t0039 a0001c0001t0011 a0001c0001t0015 a0001c0001t0039	a0001c0001t0011g0103 a0001c0001t0011g0104 a0001c0001t0015g0099 others(1): Show a0001c0001t0011g0103 a0001c0001t0011g0104 a0001c0001t0015g0099 a0001c0001t0039g0102	4	260	0.0154	-44	c.193 others(63): Show c.1932-8883_1932-8840delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTTTCTCT		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK19_chr6_110604978_110820469	110609780	GCTTCTAG others(37): Show GCTTCTAGGCACACAGATAAAATTTTAACGCTAGATGGGGTCTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	300	0.0033	-44	c.47 others(55): Show c.4711_*4754delTGAGACCCCATCTAGCGTTAAAATTTTATCTGTG TGCCTAGAAG		CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding					197		chr6	TogoVar
CDS1_chr4_84578127_84656334	84635593	GCCTGCCT others(37): Show GCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0046 a0001c0001t0007g0046	1	384	0.0026	-44	c.810 others(59): Show c.810+246_810+289delGCCTGCCTGCCTGCCTGCCTGCCTGCCTGC CTTCCTTCCTTCCT		CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
CEACAM20_chr19_44501159_44534675	44518099	AAAGAAAG others(37): Show AAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00621.hp2 others(29): Show HG00323.hp1 HG00423.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp2 HG01978.hp1 HG02074.hp2 HG02683.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02976.hp1 HG03195.hp1 HG03486.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 NA18747.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18968.hp1 NA18974.hp1 NA18985.hp2 NA18999.hp1 NA19056.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA20805.hp2	a0003 a0004 a0007 others(3): Show a0003 a0004 a0007 a0014 a0029 a0034	a0003c0012 a0004c0011 a0007c0008 others(4): Show a0003c0012 a0004c0011 a0007c0008 a0007c0022 a0014c0020 a0029c0035 a0034c0048	a0003c0012t0001 a0004c0011t0001 a0007c0008t0001 others(4): Show a0003c0012t0001 a0004c0011t0001 a0007c0008t0001 a0007c0022t0001 a0014c0020t0001 a0029c0035t0001 a0034c0048t0001	a0003c0012t0001g0092 a0004c0011t0001g0091 a0004c0011t0001g0093 others(29): Show a0003c0012t0001g0092 a0004c0011t0001g0091 a0004c0011t0001g0093 a0007c0008t0001g0067 a0007c0008t0001g0081 a0007c0008t0001g0082 a0007c0008t0001g0089 a0007c0008t0001g0090 a0007c0008t0001g0094 a0007c0008t0001g0095 a0007c0008t0001g0096 a0007c0008t0001g0097 a0007c0008t0001g0100 a0007c0008t0001g0101 a0007c0008t0001g0102 a0007c0008t0001g0103 a0007c0008t0001g0104 a0007c0008t0001g0105 a0007c0008t0001g0108 a0007c0008t0001g0110 a0007c0008t0001g0111 a0007c0008t0001g0113 a0007c0022t0001g0138 a0007c0022t0001g0139 a0007c0022t0001g0140 a0007c0022t0001g0141 a0014c0020t0001g0083 a0014c0020t0001g0084 a0014c0020t0001g0098 a0014c0020t0001g0099 a0029c0035t0001g0119 a0034c0048t0001g0163	32	438	0.0731	-44	c.103 others(61): Show c.1031-919_1031-876delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTTCTT		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	5/11						chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44532541	AAGGAAAG others(37): Show AAGGAAAGAAAGGAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01109.hp2 HG01361.hp1 others(3): Show HG00642.hp2 HG01109.hp2 HG01361.hp1 NA18953.hp2 NA18971.hp2 NA19001.hp2	a0009 a0021 a0009 a0021	a0009c0007 a0021c0027 a0009c0007 a0021c0027	a0009c0007t0001 a0021c0027t0001 a0009c0007t0001 a0021c0027t0001	a0009c0007t0001g0002 a0009c0007t0001g0055 a0009c0007t0001g0061 others(3): Show a0009c0007t0001g0002 a0009c0007t0001g0055 a0009c0007t0001g0061 a0009c0007t0001g0063 a0009c0007t0001g0078 a0021c0027t0001g0057	6	438	0.0137	-44	c.-30 others(55): Show c.-3076_-3033delCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTCC TTTCTTTCCT		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding					2867		chr19	TogoVar
CEACAM4_chr19_41614015_41632074	41622841	TATATACA others(37): Show TATATACATATATATAGATAGATAGATAGATAGATAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG01123.hp1 others(99): Show HG00597.hp2 HG00673.hp2 HG01123.hp1 HG01123.hp2 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02572.hp1 HG02622.hp1 HG02698.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02976.hp1 HG03017.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19006.hp1 NA19009.hp2 NA19012.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA19076.hp2 NA19077.hp1 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0005	a0001c0001t0002 a0001c0001t0010 a0001c0002t0001 others(8): Show a0001c0001t0002 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0015 a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0004c0005t0002	a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0011 others(43): Show a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0077 a0001c0001t0002g0087 a0001c0001t0002g0094 a0001c0001t0002g0105 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0132 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0010g0143 a0001c0002t0001g0119 a0001c0002t0002g0012 a0001c0002t0002g0023 a0001c0002t0002g0101 a0001c0002t0002g0104 a0001c0002t0002g0109 a0001c0002t0002g0111 a0001c0002t0002g0115 a0001c0002t0006g0084 a0001c0002t0006g0154 a0001c0002t0006g0157 a0001c0002t0009g0063 a0001c0002t0015g0267 a0002c0003t0001g0197 a0002c0003t0001g0241 a0002c0003t0002g0024 a0002c0003t0002g0026 a0002c0003t0002g0054 a0002c0003t0002g0163 a0002c0003t0002g0183 a0002c0003t0002g0190 a0002c0003t0002g0213 a0002c0003t0002g0214 a0002c0003t0006g0055 a0002c0003t0006g0248 a0004c0005t0002g0133 a0004c0005t0002g0153	102	437	0.2334	-44	c.425 others(61): Show c.425-1117_425-1074delCTATCTATCTATCTATCTATCTATCTAT CTATATATATGTATAT		CEACAM4	ENSG00000105352.11	transcript	ENST00000221954.7	protein_coding	2/6						chr19	TogoVar
CEBPZOS_chr2_37191496_37209743	37194875	CCCTCCCT others(37): Show CCCTCCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0004	1	466	0.0022	-44	c.-16 others(55): Show c.-1646_-1603delCCTCCCTTCCTTCCTTCCTTCTTTCCTTCCTTCC TTCCTTCCTT		CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding					1620		chr2	TogoVar
CECR2_chr22_17364460_17563151	17419526	GAAGAGGA others(37): Show GAAGAGGAAGAGGAAGAGGAAGAGGAGGAGGAGGAGGAGGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA20300.hp2 HG02723.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0021 a0002c0002t0027 a0001c0001t0021 a0002c0002t0027	a0001c0001t0021g0317 a0002c0002t0027g0133 a0001c0001t0021g0317 a0002c0002t0027g0133	2	324	0.0062	-44	c.126 others(63): Show c.126+49622_126+49665delGGAAGAGGAAGAGGAAGAGGAGGAGG AGGAGGAGGAAGAAAAGA		CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
CELF2_chr10_11012872_11341675	11142929	GTCCCCTC others(37): Show GTCCCCTCGTGATTCTTCTGTCCTCCCTCCACTGGGGGAACTCAC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0075 a0001c0001t0032g0075	1	194	0.0052	-44	c.75- others(61): Show c.75-22519_75-22476delAACTCACTCCCCTCGTGATTCTTCTGTC CTCCCTCCACTGGGGG		CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CELSR1_chr22_46356174_46542620	46498249	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAGCGAAACTCTGTCTCAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02129.hp2 HG00639.hp2 HG02129.hp2	a0001 a0008 a0001 a0008	a0001c0006 a0008c0033 a0001c0006 a0008c0033	a0001c0006t0001 a0008c0033t0002 a0001c0006t0001 a0008c0033t0002	a0001c0006t0001g0044 a0008c0033t0002g0050 a0001c0006t0001g0044 a0008c0033t0002g0050	2	104	0.0192	-44	c.354 others(65): Show c.3545-33948_3545-33905delTTGAGACAGAGTTTCGCTTTTTTT TTTTTTTTTTTTTTTTTTTT		CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34						chr22	TogoVar
CENPF_chr1_214598195_214669571	214616819	CTTCTTTC others(37): Show CTTCTTTCCTTCCTTCCTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp1 HG01109.hp2 HG02257.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0004 a0013c0015t0004	a0013c0015t0004g0051 a0013c0015t0004g0052 a0013c0015t0004g0051 a0013c0015t0004g0052	2	282	0.0071	-44	c.360 others(61): Show c.360-1752_360-1709delTCTTTCCTTCCTTCCTCTTTCTTTCTTT CTTTCTTTCTTTCTTT		CENPF	ENSG00000117724.15	transcript	ENST00000366955.8	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CENPF_chr1_214598195_214669571	214616835	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01928.hp2 HG01496.hp1 HG01928.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0016 a0005c0005t0003g0016	2	282	0.0071	-44	c.360 others(61): Show c.360-1693_360-1650delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT		CENPF	ENSG00000117724.15	transcript	ENST00000366955.8	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CENPK_chr5_65512766_65568168	65527498	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	374	0.0027	-44	c.597 others(59): Show c.597+910_597+953delATATATATATATATATATATATATATATAT ATATATATATATAT		CENPK	ENSG00000123219.13	transcript	ENST00000396679.6	protein_coding	9/10						chr5	TogoVar
CENPM_chr22_41933737_41952152	41939159	ACCAGGCG others(37): Show ACCAGGCGCTGCGCCATGGTGGCCCTAAAGCCTTCCACCTGCGGG	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18939.hp1 NA18939.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0139 a0003c0005t0002g0139	1	258	0.0039	-44	c.403 others(53): Show c.403-7_439delCCCGCAGGTGGAAGGCTTTAGGGCCACCATGGCGCA GCGCCTGG	p.Val others(5): Show p.Val135fs	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	6/6	515/938	403/543	135/180			chr22	TogoVar

Search by Variant

Search

Search Results (Total: 1890 hits)