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 (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CDH10_chr5_24482100_24649978	24625586	T T	TATATGAA others(27): Show TATATGAATATATATGTGTATATATATATTCACAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00597.hp1 others(66): Show HG00280.hp1 HG00423.hp2 HG00597.hp1 HG00639.hp1 HG00738.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG02015.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp1 HG03704.hp1 HG03927.hp1 HG06807.hp2 NA18906.hp1 NA18942.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18961.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18984.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19006.hp1 NA19007.hp2 NA19011.hp1 NA19063.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001 a0003c0006t0002	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 others(66): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0002g0049 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0008g0289 a0001c0001t0008g0290 a0001c0001t0011g0260 a0001c0002t0001g0249 a0001c0002t0001g0258 a0003c0006t0002g0069	69	290	0.2379	34	c.-12 others(55): Show c.-124+18974_-124+19007dupTTGTGAATATATATATACACATAT ATATTCATAT	CDH10	ENSG00000040731.10	transcript	ENST00000264463.8	protein_coding	1/11			chr5	TogoVar
CDH12_chr5_21745673_22858344	22483748	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0049 a0001c0001t0013g0049	1	60	0.0167	34	c.-42 others(55): Show c.-428+21521_-428+21522insTATATATATATATATATATATATA TATATATATA	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	2/14			chr5	TogoVar
CDH12_chr5_21745673_22858344	22532350	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02559.hp1 HG02572.hp1 HG01361.hp1 HG02559.hp1 HG02572.hp1	a0002 a0003 a0002 a0003	a0002c0004 a0003c0005 a0002c0004 a0003c0005	a0002c0004t0004 a0002c0004t0006 a0003c0005t0001 a0002c0004t0004 a0002c0004t0006 a0003c0005t0001	a0002c0004t0004g0033 a0002c0004t0006g0037 a0003c0005t0001g0056 a0002c0004t0004g0033 a0002c0004t0006g0037 a0003c0005t0001g0056	3	60	0.0500	34	c.-52 others(55): Show c.-522-26987_-522-26986insATATATATATATATATATATATAT ATATATATAT	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	1/14			chr5	TogoVar
CDH12_chr5_21745673_22858344	22819956	T T	TATATACA others(27): Show TATATACACATATATATACATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03579.hp2 HG02572.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0015 a0002c0004t0004 a0001c0002t0015 a0002c0004t0004	a0001c0002t0015g0032 a0002c0004t0004g0033 a0001c0002t0015g0032 a0002c0004t0004g0033	2	60	0.0333	34	c.-52 others(55): Show c.-523+33101_-523+33102insGTATATATATGTATATGTATATAT ATGTGTATAT	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	1/14			chr5	TogoVar
CDH12_chr5_21745673_22858344	22852466	G G	GATCTTGT others(27): Show GATCTTGTAATTAATCTTTGAATGCAATTAGATAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0001 a0001c0002t0007g0001	1	60	0.0167	34	c.-52 others(51): Show c.-523+591_-523+592insGTATCTAATTGCATTCAAAGATTAATTA CAAGAT	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	1/14			chr5	TogoVar
CDH13_chr16_82621969_83805640	82787841	A A	AGTGTGTG others(27): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG02027.hp2 others(10): Show HG00438.hp2 HG00597.hp1 HG02027.hp2 HG02895.hp2 HG02897.hp1 HG03239.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03942.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0018 a0001c0001t0023 a0001c0002t0001 a0001c0004t0003 a0001c0007t0004 a0001c0010t0003	a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0095 others(10): Show a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0095 a0001c0001t0001g0108 a0001c0001t0002g0028 a0001c0001t0003g0035 a0001c0001t0013g0006 a0001c0001t0018g0072 a0001c0001t0023g0021 a0001c0002t0001g0030 a0001c0004t0003g0103 a0001c0007t0004g0107 a0001c0010t0003g0062	13	110	0.1182	34	c.46- others(51): Show c.46-70510_46-70509insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83102912	T T	TTTTTTTT others(27): Show TTTTTTTTTCTTTTTCTTTTTTTTTTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03098.hp1 HG03579.hp1 HG02922.hp2 HG03098.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0001t0005 a0001c0006t0029 a0001c0001t0003 a0001c0001t0005 a0001c0006t0029	a0001c0001t0003g0035 a0001c0001t0005g0054 a0001c0006t0029g0051 a0001c0001t0003g0035 a0001c0001t0005g0054 a0001c0006t0029g0051	3	110	0.0273	34	c.367 others(53): Show c.367-22465_367-22464insCTTTTTCTTTTTTTTTTTTCTTTTTC TTTTTTTT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH17_chr8_94122162_94213555	94168143	T T	TATATATA others(27): Show TATATATATACGTATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0025 a0001c0005t0001g0025	1	338	0.0030	34	c.106 others(53): Show c.1067-2168_1067-2167insGTATATATATATATATATATATACGT ATATATAT	CDH17	ENSG00000079112.10	transcript	ENST00000027335.8	protein_coding	9/17			chr8	TogoVar
CDH19_chr18_66496083_66609090	66529001	A A	AAGACAGC others(27): Show AAGACAGCAATCCACAAACCAACAAGAAACAAAAC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	354	0.0028	34	c.145 others(51): Show c.1458+843_1458+844insGTTTTGTTTCTTGTTGGTTTGTGGATTG CTGTCT	CDH19	ENSG00000071991.9	transcript	ENST00000262150.7	protein_coding	9/11			chr18	TogoVar
CDH1_chr16_68732292_68840537	68745605	A A	ATGTGTAT others(27): Show ATGTGTATATATATATATGTGTATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0196	1	316	0.0032	34	c.163 others(51): Show c.163+7211_163+7212insGTGTATATATATGTATGTGTGTATATAT ATATAT	CDH1	ENSG00000039068.20	transcript	ENST00000261769.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH1_chr16_68732292_68840537	68745609	G G	GTATATAT others(27): Show GTATATATATATATGTGTATATATATGTATGTGTA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	316	0.0032	34	c.163 others(51): Show c.163+7211_163+7212insGTGTATATATATGTATGTGTATATATAT ATATAT	CDH1	ENSG00000039068.20	transcript	ENST00000261769.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH1_chr16_68732292_68840537	68745611	A A	ATATATAT others(27): Show ATATATATATATATGTGTATATATATGTATGTGTG	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18985.hp1 HG02132.hp2 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0218 a0001c0002t0001g0201 a0001c0002t0001g0218	2	316	0.0063	34	c.163 others(51): Show c.163+7213_163+7214insGTGTATATATATGTATGTGTGTATATAT ATATAT	CDH1	ENSG00000039068.20	transcript	ENST00000261769.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH22_chr20_46168739_46313498	46197295	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0289 a0001c0001t0003g0289	1	318	0.0031	34	c.142 others(53): Show c.1423+2127_1423+2128insATATATATATATATATATATATATAT ATATATAT	CDH22	ENSG00000149654.11	transcript	ENST00000537909.4	protein_coding	8/11			chr20	TogoVar
CDH23_chr10_71391920_71820947	71688410	A A	ATTGGAGT others(27): Show ATTGGAGTTAGAGATGCTGGAGCCAGGGATGGTAG	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0078 a0078	a0078c0092 a0078c0092	a0078c0092t0010 a0078c0092t0010	a0078c0092t0010g0008 a0078c0092t0010g0008	1	196	0.0051	34	c.205 others(51): Show c.2059+692_2059+725dupTTGGAGTTAGAGATGCTGGAGCCAGGGA TGGTAG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	19/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH2_chr18_27945966_28182130	28043461	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATAAAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	268	0.0037	34	c.173 others(53): Show c.173-29553_173-29552insATTTATATATATATATATATATATAT ATATATAT	CDH2	ENSG00000170558.10	transcript	ENST00000269141.8	protein_coding	2/15			chr18	TogoVar
CDH4_chr20_61247261_61945617	61283479	G G	GCGTGTGT others(27): Show GCGTGTGTGATGTGTGTGCGTTTGCACGCGTGTGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03516.hp1 HG03704.hp1 others(2): Show HG00423.hp2 HG03516.hp1 HG03704.hp1 NA18941.hp2 NA18960.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0005 others(1): Show a0001c0003 a0002c0002 a0002c0005 a0002c0008	a0001c0003t0053 a0002c0002t0014 a0002c0005t0020 others(2): Show a0001c0003t0053 a0002c0002t0014 a0002c0005t0020 a0002c0008t0001 a0002c0008t0025	a0001c0003t0053g0074 a0002c0002t0014g0062 a0002c0005t0020g0056 others(2): Show a0001c0003t0053g0074 a0002c0002t0014g0062 a0002c0005t0020g0056 a0002c0008t0001g0028 a0002c0008t0025g0024	5	106	0.0472	34	c.169 others(53): Show c.169+28542_169+28543insCGTGTGTGATGTGTGTGCGTTTGCAC GCGTGTGC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CDH4_chr20_61247261_61945617	61647536	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02109.hp1 HG00408.hp2 HG02109.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0017 a0002c0002t0012 a0001c0001t0017 a0002c0002t0012	a0001c0001t0017g0065 a0002c0002t0012g0082 a0001c0001t0017g0065 a0002c0002t0012g0082	2	106	0.0189	34	c.170 others(53): Show c.170-96024_170-96023insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61647548	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	106	0.0094	34	c.170 others(53): Show c.170-96012_170-96011insTCTCTCTCTCTCTCTCTCTCTCTCTC CCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH7_chr18_65746012_65895337	65844174	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01884.hp2 HG02109.hp2 others(3): Show HG01081.hp2 HG01884.hp2 HG02109.hp2 HG02280.hp2 HG02300.hp1 HG03492.hp1	a0002 a0002	a0002c0003 a0002c0010 a0002c0003 a0002c0010	a0002c0003t0004 a0002c0003t0006 a0002c0003t0013 others(1): Show a0002c0003t0004 a0002c0003t0006 a0002c0003t0013 a0002c0010t0019	a0002c0003t0004g0130 a0002c0003t0004g0131 a0002c0003t0004g0137 others(3): Show a0002c0003t0004g0130 a0002c0003t0004g0131 a0002c0003t0004g0137 a0002c0003t0006g0171 a0002c0003t0013g0023 a0002c0010t0019g0198	6	208	0.0289	34	c.123 others(51): Show c.1235+123_1235+124insATATATATATATATATATATATATATAT ATATAT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65844174	G G	GATTTATA others(27): Show GATTTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03834.hp2 HG02615.hp1 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0074 a0002c0004t0077 a0002c0002t0074 a0002c0004t0077	a0002c0002t0074g0114 a0002c0004t0077g0100 a0002c0002t0074g0114 a0002c0004t0077g0100	2	208	0.0096	34	c.123 others(51): Show c.1235+111_1235+112insTTATATATATATATATATATATATATAT ATATAT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65892961	A A	AAGAAAGA others(27): Show AAGAAAGAAAAAAAGTAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0093 a0002c0018t0093	a0002c0018t0093g0208 a0002c0018t0093g0208	1	208	0.0048	34	c.12 others(47): Show c.12067_*12068insAGAAAGAAAAAAAGTAAGAAAGAAAGAAAGAA AG	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding		2625		chr18	TogoVar
CDH8_chr16_61642250_62041438	61953895	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0069 a0001c0001t0010g0069	1	168	0.0060	34	c.253 others(53): Show c.253-52423_253-52422insTATATATATATATATATATATATATA TATATATA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960051	G G	GTATGTGT others(27): Show GTATGTGTGTATGTATACACATACATATATACATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0105 a0001c0001t0040g0105	1	168	0.0060	34	c.253 others(53): Show c.253-58579_253-58578insTATGTATATATGTATGTGTATACATA CACACATA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH9_chr5_26875597_27043586	26896540	C C	CAATAGAA others(27): Show CAATAGAATGAAATGAAAATTTCATTTCATTATAG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	240	0.0042	34	c.125 others(53): Show c.1253+5935_1253+5936insCTATAATGAAATGAAATTTTCATTTC ATTCTATT	CDH9	ENSG00000113100.10	transcript	ENST00000231021.9	protein_coding	7/11			chr5	TogoVar
CDH9_chr5_26875597_27043586	26896543	T T	TAGAATGA others(27): Show TAGAATGAAATGAAAATTTCATTTCATTATACAAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0233 a0003c0003t0001g0233	1	240	0.0042	34	c.125 others(53): Show c.1253+5899_1253+5932dupGTTGTATAATGAAATGAAATTTTCAT TTCATTCT	CDH9	ENSG00000113100.10	transcript	ENST00000231021.9	protein_coding	7/11			chr5	TogoVar
CDH9_chr5_26875597_27043586	26954388	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03209.hp1 NA19043.hp1 HG02622.hp2 HG03209.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0151	3	240	0.0125	34	c.228 others(53): Show c.228+33717_228+33718insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	CDH9	ENSG00000113100.10	transcript	ENST00000231021.9	protein_coding	2/11			chr5	TogoVar
CDIN1_chr15_36574626_36815244	36703219	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02896.hp2 HG02897.hp1 HG01243.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0003 a0002c0002t0004	a0002c0002t0003g0061 a0002c0002t0004g0106 a0002c0002t0004g0107 a0002c0002t0003g0061 a0002c0002t0004g0106 a0002c0002t0004g0107	3	238	0.0126	34	c.544 others(51): Show c.544+5843_544+5844insATATATATATATATATATATATATATAT ATATAT	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDK12_chr17_39456486_39539544	39532102	T T	TTCTCTCT others(27): Show TTCTCTCTCTCTCTATCTCTCTCTCTCTCTCTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0035 a0006c0008t0035	a0006c0008t0035g0085 a0006c0008t0035g0085	1	260	0.0039	34	c.79 others(43): Show c.799_*800insATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	14/14	800	INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK13_chr7_39945256_40104580	39976323	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	322	0.0031	34	c.121 others(55): Show c.1212-11275_1212-11274insTCTCTCTCTCTCTCACACACACAC ACACACACAC	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK13_chr7_39945256_40104580	39976323	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0010	1	322	0.0031	34	c.121 others(55): Show c.1212-11275_1212-11274insTCTCTCTCTCTCTCTCACACACAC ACACACACAC	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK13_chr7_39945256_40104580	39976323	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	322	0.0031	34	c.121 others(55): Show c.1212-11275_1212-11274insTCTCTCTCTCTCTCTCTCTCTCTC TCACACACAC	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK13_chr7_39945256_40104580	39976323	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	322	0.0031	34	c.121 others(55): Show c.1212-11275_1212-11274insTCTCTCTCTCTCTCTCTCTCTCTC TCTCACACAC	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	91091501	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	168	0.0060	34	c.115 others(55): Show c.1154+12022_1154+12023insTTATATATATATATATATATATAT ATATATATAT	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK15_chr2_201801537_201900550	201857232	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01952.hp1 others(9): Show HG00544.hp1 HG00544.hp2 HG01952.hp1 HG02056.hp2 HG02273.hp1 HG02738.hp1 NA18980.hp1 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19085.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0046	a0001c0001t0001g0174 a0001c0001t0002g0276 a0001c0001t0002g0288 others(9): Show a0001c0001t0001g0174 a0001c0001t0002g0276 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0003g0077 a0001c0001t0004g0164 a0001c0001t0005g0208 a0001c0001t0005g0213 a0001c0001t0005g0220 a0001c0001t0005g0244 a0001c0001t0005g0257 a0001c0001t0046g0283	12	322	0.0373	34	c.100 others(53): Show c.1009+2311_1009+2312insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	CDK15	ENSG00000138395.17	transcript	ENST00000652192.3	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDK19_chr6_110604978_110820469	110734520	G G	GCTCTCTC others(27): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0293 a0001c0001t0009g0293	1	300	0.0033	34	c.204 others(53): Show c.204+11572_204+11605dupAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAG	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	2/12			chr6	TogoVar
CDK19_chr6_110604978_110820469	110759428	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0274 a0001c0001t0016g0274	1	300	0.0033	34	c.129 others(53): Show c.129-13228_129-13227insATATATATATATATATATATATATAT ATTTTTTT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	1/12			chr6	TogoVar
CDK2AP1_chr12_123255976_123276856	123264462	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0131 a0001c0001t0007g0131	1	328	0.0031	34	c.280 others(49): Show c.280+733_280+734insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding	3/3			chr12	TogoVar
CDK5R2_chr2_218954666_218967155	218966479	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	388	0.0026	34	c.55 others(45): Show c.5555_*5556insAAAAAAAAATATATATATATATATATATATATAT	CDK5R2	ENSG00000171450.6	transcript	ENST00000302625.6	protein_coding		4325		chr2	TogoVar
CDK5R2_chr2_218954666_218967155	218966503	T T	TATATATA others(27): Show TATATATATATATATATATATACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 NA19054.hp1 HG02683.hp1 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	2	388	0.0052	34	c.55 others(45): Show c.5579_*5580insATATATATATATATATATATACACACACACACAC	CDK5R2	ENSG00000171450.6	transcript	ENST00000302625.6	protein_coding		4349		chr2	TogoVar
CDK5R2_chr2_218954666_218967155	218966503	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	388	0.0026	34	c.55 others(45): Show c.5579_*5580insATATATATATATATATATATATATATATACACAC	CDK5R2	ENSG00000171450.6	transcript	ENST00000302625.6	protein_coding		4349		chr2	TogoVar
CDK6_chr7_92599921_92841573	92778946	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18990.hp2 NA18906.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0002 a0001c0001t0025	a0001c0001t0002g0100 a0001c0001t0025g0052 a0001c0001t0002g0100 a0001c0001t0025g0052	2	124	0.0161	34	c.234 others(51): Show c.234-4116_234-4115insTTATATATATATATATATATATATATAT ATATAT	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	2/7			chr7	TogoVar
CDKAL1_chr6_20529457_21237404	20799040	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02273.hp1 HG01361.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0007 a0001c0001t0004 a0001c0002t0007	a0001c0001t0004g0031 a0001c0002t0007g0154 a0001c0001t0004g0031 a0001c0002t0007g0154	2	196	0.0102	34	c.638 others(53): Show c.638+17804_638+17805insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003343	A A	AATATATA others(27): Show AATATATATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0103 a0001c0002t0028g0103	1	196	0.0051	34	c.105 others(53): Show c.1055+2980_1055+2981insCATATATATATATATATATATATATA TATATATA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003343	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03704.hp1 HG04184.hp2 others(1): Show HG01515.hp1 HG03704.hp1 HG04184.hp2 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0003 a0002c0003t0005 others(1): Show a0001c0002t0003 a0002c0003t0003 a0002c0003t0005 a0002c0003t0020	a0001c0002t0003g0055 a0002c0003t0003g0107 a0002c0003t0005g0053 others(1): Show a0001c0002t0003g0055 a0002c0003t0003g0107 a0002c0003t0005g0053 a0002c0003t0020g0075	4	196	0.0204	34	c.105 others(53): Show c.1055+3000_1055+3001insTATATATATATATATATATATATATA TATATATA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003371	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01361.hp1 NA18906.hp2 HG01358.hp2 HG01361.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0162 a0001c0001t0004g0031 a0001c0001t0004g0097 a0001c0001t0003g0162 a0001c0001t0004g0031 a0001c0001t0004g0097	3	196	0.0153	34	c.105 others(53): Show c.1055+3000_1055+3001insTATATATATATATATATATATATATA TATACACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003371	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0036 a0002c0007t0036	a0002c0007t0036g0024 a0002c0007t0036g0024	1	196	0.0051	34	c.105 others(53): Show c.1055+3000_1055+3001insTATATATATATATATATATATATATA TATATACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18952.hp2 HG02056.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0143 a0001c0001t0001g0063 a0001c0001t0001g0143	2	416	0.0048	34	c.151 others(49): Show c.151-368_151-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18952.hp2 HG02056.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0235 a0001c0001t0001g0186 a0001c0001t0001g0235	2	404	0.0050	34	c.194 others(49): Show c.194-368_194-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21981108	A A	ATATATAT others(27): Show ATATATATATATACGTGTATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp1 HG02723.hp2 others(2): Show HG02280.hp1 HG02615.hp1 HG02723.hp2 HG03209.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0002 a0001c0001t0003g0052 a0001c0001t0003g0053	5	404	0.0124	34	c.194 others(51): Show c.194-9934_194-9901dupCACGTATATATATATATACACGTATATA TATATA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990611	T T	TGAGAGAG others(27): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01928.hp2 HG02965.hp1 others(9): Show HG00738.hp2 HG01928.hp2 HG02965.hp1 HG04228.hp1 NA18940.hp2 NA18952.hp1 NA18957.hp1 NA18992.hp2 NA19002.hp2 NA19062.hp2 NA19080.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0101 a0001c0001t0001g0102 others(8): Show a0001c0001t0001g0006 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0158 a0001c0001t0001g0175 a0001c0001t0002g0325 a0001c0001t0002g0338 a0001c0001t0008g0324 a0001c0002t0001g0145 a0002c0003t0001g0337	12	404	0.0297	34	c.193 others(51): Show c.193+3494_193+3527dupTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar

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