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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
CDH7_chr18_65746012_65895337	65804699	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0051 a0002c0015t0051	a0002c0015t0051g0081 a0002c0015t0051g0081	1	208	0.0048	20	c.211 others(37): Show c.211-4998_211-4979dupGTGTGTGTGTGTGTGTGTGT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65844174	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp1 HG02897.hp2 others(2): Show HG02630.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0004 a0002c0018 a0001c0006 a0002c0004 a0002c0018	a0001c0006t0060 a0002c0004t0017 a0002c0004t0030 others(1): Show a0001c0006t0060 a0002c0004t0017 a0002c0004t0030 a0002c0018t0093	a0001c0006t0060g0096 a0002c0004t0017g0076 a0002c0004t0030g0193 others(2): Show a0001c0006t0060g0096 a0002c0004t0017g0076 a0002c0004t0030g0193 a0002c0004t0030g0200 a0002c0018t0093g0208	5	208	0.0240	20	c.123 others(37): Show c.1235+123_1235+124insATATATATATATATATATAT	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(13): Show GATTTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0035 a0002c0002t0003g0035	1	208	0.0048	20	c.123 others(37): Show c.1235+111_1235+112insTTATATATATATATATATAT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65849339	T T	TTTTTCTT others(13): Show TTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01175.hp2 NA19002.hp1 HG00733.hp2 HG01175.hp2 NA19002.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0006 a0002c0003t0004 a0002c0003t0006	a0002c0003t0004g0128 a0002c0003t0004g0135 a0002c0003t0006g0129 a0002c0003t0004g0128 a0002c0003t0004g0135 a0002c0003t0006g0129	3	208	0.0144	20	c.123 others(39): Show c.1235+5343_1235+5362dupTCTTTTCTTTTCTTTTCTTT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65853914	T T	TATATATA others(13): Show TATATATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0096 a0002c0002t0096	a0002c0002t0096g0150 a0002c0002t0096g0150	1	208	0.0048	20	c.123 others(39): Show c.1236-3884_1236-3883insCCATATATATATATATATAT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65853916	T T	TATATATA others(13): Show TATATATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0052 a0002c0002t0052	a0002c0002t0052g0083 a0002c0002t0052g0083	1	208	0.0048	20	c.123 others(39): Show c.1236-3882_1236-3881insCCATATATATATATATATAT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65892890	G G	GGAAGGAA others(13): Show GGAAGGAAGGAAGGAAGGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 NA20129.hp1 HG03471.hp1 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0058 a0002c0005t0066 a0002c0003t0058 a0002c0005t0066	a0002c0003t0058g0099 a0002c0005t0066g0196 a0002c0003t0058g0099 a0002c0005t0066g0196	2	208	0.0096	20	c.11 others(33): Show c.11996_*11997insGAAGGAAGGAAGGAAGGAAA	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding		2554		chr18	TogoVar
CDH8_chr16_61642250_62041438	61665752	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03516.hp1 NA18906.hp1 others(2): Show HG02132.hp2 HG03516.hp1 NA18906.hp1 NA18950.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0079 a0001c0001t0006 a0001c0001t0008 a0001c0001t0079	a0001c0001t0006g0097 a0001c0001t0006g0137 a0001c0001t0006g0167 others(2): Show a0001c0001t0006g0097 a0001c0001t0006g0137 a0001c0001t0006g0167 a0001c0001t0008g0087 a0001c0001t0079g0081	5	168	0.0298	20	c.165 others(41): Show c.1655-10051_1655-10032dupGGAAGGAAGGAAGGAAGGAA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	10/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61736112	A A	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18522.hp1 HG02970.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0086 a0001c0002t0014g0129 a0001c0002t0014g0086 a0001c0002t0014g0129	2	168	0.0119	20	c.141 others(39): Show c.1415-8898_1415-8897insCCTTTCTTTCTTTCTTTCTT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	8/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61736112	A A	AAAGAAAG others(13): Show AAAGAAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18939.hp1 NA18952.hp1 HG02559.hp1 NA18939.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0007 a0001c0001t0052 a0001c0007t0065 a0001c0001t0007 a0001c0001t0052 a0001c0007t0065	a0001c0001t0007g0146 a0001c0001t0052g0121 a0001c0007t0065g0118 a0001c0001t0007g0146 a0001c0001t0052g0121 a0001c0007t0065g0118	3	168	0.0179	20	c.141 others(39): Show c.1415-8898_1415-8897insCCTTCCTTCCTTTCTTTCTT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	8/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61736112	A A	AAAGAAAG others(13): Show AAAGAAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp2 HG03688.hp1 HG02559.hp2 HG03098.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0035 a0001c0001t0044 a0001c0001t0002 a0001c0001t0035 a0001c0001t0044	a0001c0001t0002g0133 a0001c0001t0035g0018 a0001c0001t0044g0038 a0001c0001t0002g0133 a0001c0001t0035g0018 a0001c0001t0044g0038	3	168	0.0179	20	c.141 others(39): Show c.1415-8898_1415-8897insCCTTCCTTCCTTCCTTTCTT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	8/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61736112	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp2 NA18906.hp2 HG01884.hp1 HG02630.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0117 a0001c0001t0017g0073 a0001c0001t0017g0116 a0001c0001t0001g0117 a0001c0001t0017g0073 a0001c0001t0017g0116	3	168	0.0179	20	c.141 others(39): Show c.1415-8917_1415-8898dupCCTTCCTTCCTTCCTTCCTT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	8/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61768367	T T	TCTCTCTC others(13): Show TCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18939.hp1 HG02300.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0007 a0001c0001t0013	a0001c0001t0007g0146 a0001c0001t0013g0126 a0001c0001t0007g0146 a0001c0001t0013g0126	2	168	0.0119	20	c.141 others(41): Show c.1414+20978_1414+20979insGGAGAGAGAGAGAGAGAGAG	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	8/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61768398	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02080.hp1 NA18978.hp2 HG00558.hp2 HG02080.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0046 a0001c0001t0070 a0001c0001t0021 a0001c0001t0046 a0001c0001t0070	a0001c0001t0021g0057 a0001c0001t0046g0058 a0001c0001t0070g0123 a0001c0001t0021g0057 a0001c0001t0046g0058 a0001c0001t0070g0123	3	168	0.0179	20	c.141 others(41): Show c.1414+20928_1414+20947dupGAGAGAGAGAGAGAGAGAGA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	8/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61940398	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02258.hp1 HG02300.hp1 others(4): Show HG01261.hp2 HG02258.hp1 HG02300.hp1 HG02922.hp2 NA18952.hp1 NA18952.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 others(2): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0052 a0001c0001t0059	a0001c0001t0005g0039 a0001c0001t0005g0164 a0001c0001t0009g0040 others(4): Show a0001c0001t0005g0039 a0001c0001t0005g0164 a0001c0001t0009g0040 a0001c0001t0009g0061 a0001c0001t0013g0126 a0001c0001t0052g0121 a0001c0001t0059g0154	7	168	0.0417	20	c.253 others(39): Show c.253-38926_253-38925insAAAAAAAAAAAAAAAAAAAA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61953895	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0047 a0001c0001t0063g0047	1	168	0.0060	20	c.253 others(39): Show c.253-52442_253-52423dupTATATATATATATATATATA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH9_chr5_26875597_27043586	26951945	A A	ATTTATTT others(13): Show ATTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01123.hp1 HG01123.hp2 others(4): Show HG00609.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG03492.hp2 HG04204.hp1 NA18962.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0101 a0001c0001t0001g0113 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0101 a0001c0001t0001g0113 a0001c0001t0001g0122 a0002c0002t0001g0176 a0002c0002t0001g0205 a0002c0002t0001g0212	7	240	0.0292	20	c.229 others(39): Show c.229-36041_229-36022dupATAAAATAAAATAAAATAAA	CDH9	ENSG00000113100.10	transcript	ENST00000231021.9	protein_coding	2/11			chr5	TogoVar
CDH9_chr5_26875597_27043586	26954388	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp2 HG02615.hp1 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0003 a0002c0004t0001 a0002c0002t0003 a0002c0004t0001	a0002c0002t0003g0002 a0002c0004t0001g0228 a0002c0002t0003g0002 a0002c0004t0001g0228	2	240	0.0083	20	c.228 others(39): Show c.228+33717_228+33718insAAAAAAAAAAAAAAAAAAAA	CDH9	ENSG00000113100.10	transcript	ENST00000231021.9	protein_coding	2/11			chr5	TogoVar
CDH9_chr5_26875597_27043586	26977489	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02818.hp1 HG03195.hp2 HG02451.hp2 HG02818.hp1 HG03195.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0136 a0003c0003t0001g0230 a0003c0003t0001g0236 a0003c0003t0001g0136 a0003c0003t0001g0230 a0003c0003t0001g0236	3	240	0.0125	20	c.228 others(39): Show c.228+10597_228+10616dupCATATATATATATATATATA	CDH9	ENSG00000113100.10	transcript	ENST00000231021.9	protein_coding	2/11			chr5	TogoVar
CDHR2_chr5_176544342_176600824	176572390	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02056.hp2 HG02451.hp1 others(16): Show HG00733.hp2 HG02056.hp2 HG02451.hp1 HG02451.hp2 HG02647.hp1 HG02723.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03017.hp2 HG03486.hp1 NA18967.hp2 NA18982.hp1 NA19001.hp2 NA19002.hp2 NA19079.hp2 NA19084.hp1 NA19090.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0008 a0001c0016 a0003c0002 others(2): Show a0001c0008 a0001c0016 a0003c0002 a0004c0039 a0008c0011	a0001c0008t0001 a0001c0016t0001 a0003c0002t0001 others(2): Show a0001c0008t0001 a0001c0016t0001 a0003c0002t0001 a0004c0039t0001 a0008c0011t0001	a0001c0008t0001g0165 a0001c0008t0001g0166 a0001c0008t0001g0176 others(16): Show a0001c0008t0001g0165 a0001c0008t0001g0166 a0001c0008t0001g0176 a0001c0008t0001g0177 a0001c0008t0001g0178 a0001c0016t0001g0137 a0003c0002t0001g0184 a0003c0002t0001g0187 a0003c0002t0001g0190 a0003c0002t0001g0198 a0003c0002t0001g0199 a0003c0002t0001g0224 a0003c0002t0001g0226 a0003c0002t0001g0242 a0003c0002t0001g0250 a0004c0039t0001g0024 a0008c0011t0001g0172 a0008c0011t0001g0277 a0008c0011t0001g0313	19	344	0.0552	20	c.405 others(37): Show c.405+1095_405+1114dupATAAATAAATAAATAAATAA	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	6/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDHR2_chr5_176544342_176600824	176582136	T T	TCAGCCTC others(13): Show TCAGCCTCCTGAGTAGTTGGG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0187 a0003c0002t0001g0187	1	344	0.0029	20	c.205 others(37): Show c.2058+555_2058+574dupCAGCCTCCTGAGTAGTTGGG	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	17/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDHR2_chr5_176544342_176600824	176591754	A A	ATGATGGT others(13): Show ATGATGGTGTTGGTGTTGAGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0101 a0001c0003t0001g0101	1	344	0.0029	20	c.373 others(37): Show c.3734+278_3734+279insTTGGTGTTGAGGTGATGGTG	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDHR3_chr7_105958264_106041432	106028916	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02683.hp2 HG02074.hp1 HG02683.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0017 a0002c0005t0002 a0001c0004t0017 a0002c0005t0002	a0001c0004t0017g0240 a0002c0005t0002g0232 a0001c0004t0017g0240 a0002c0005t0002g0232	2	358	0.0056	20	c.230 others(37): Show c.2304+394_2304+413dupCTTTCTTTCTTTCTTTCTTT	CDHR3	ENSG00000128536.16	transcript	ENST00000317716.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDHR5_chr11_611583_629955	612808	G G	GAGGTACC others(13): Show GAGGTACCCCCCCCCACATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	409	0.0024	20	c.45 others(31): Show c.4542_*4543insTGATGTGGGGGGGGGTACCT	CDHR5	ENSG00000099834.19	transcript	ENST00000397542.7	protein_coding		3774		chr11	TogoVar
CDHR5_chr11_611583_629955	628897	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19077.hp2 NA19064.hp1 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	2	409	0.0049	20	c.-39 others(31): Show c.-3996_-3995insGAAAGAAAGAAAGAAAGAAA	CDHR5	ENSG00000099834.19	transcript	ENST00000397542.7	protein_coding		3943		chr11	TogoVar
CDIN1_chr15_36574626_36815244	36604418	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02129.hp2 NA18944.hp2 others(1): Show HG02074.hp1 HG02129.hp2 NA18944.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0151 others(1): Show a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0151 a0001c0001t0005g0133	4	238	0.0168	20	c.101 others(39): Show c.101+24477_101+24496dupCACACACACACACACACACA	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDIN1_chr15_36574626_36815244	36746669	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03098.hp1 HG03516.hp2 others(1): Show HG01358.hp1 HG03098.hp1 HG03516.hp2 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0014 a0001c0001t0026 others(1): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0026 a0002c0003t0001	a0001c0001t0002g0096 a0001c0001t0014g0218 a0001c0001t0026g0220 others(1): Show a0001c0001t0002g0096 a0001c0001t0014g0218 a0001c0001t0026g0220 a0002c0003t0001g0166	4	238	0.0168	20	c.716 others(39): Show c.716+36718_716+36737dupACACACACACACACACACAC	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDIN1_chr15_36574626_36815244	36751229	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02622.hp2 HG02735.hp1 others(3): Show HG00609.hp1 HG02622.hp2 HG02735.hp1 HG03654.hp2 HG06807.hp1 NA18962.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0002c0002t0002 a0001c0001t0001 a0001c0001t0008 a0002c0002t0002	a0001c0001t0001g0153 a0001c0001t0001g0168 a0001c0001t0001g0174 others(3): Show a0001c0001t0001g0153 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0008g0131 a0002c0002t0002g0057 a0002c0002t0002g0074	6	238	0.0252	20	c.716 others(39): Show c.716+41280_716+41299dupATATATATATATATATATAT	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDIN1_chr15_36574626_36815244	36774163	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0194 a0001c0001t0010g0194	1	238	0.0042	20	c.717 others(39): Show c.717-34160_717-34159insTGTGTGTGTGTGTGTGTGCG	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDIN1_chr15_36574626_36815244	36797979	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02258.hp2 HG01258.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0182 a0001c0001t0010g0195 a0001c0001t0010g0182 a0001c0001t0010g0195	2	238	0.0084	20	c.717 others(39): Show c.717-10334_717-10333insAAAAAAAAAAAAAAAAAAAA	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDIN1_chr15_36574626_36815244	36800907	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0186 a0002c0003t0001g0186	1	238	0.0042	20	c.717 others(37): Show c.717-7416_717-7415insATATATATATATATATATAT	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDIN1_chr15_36574626_36815244	36800909	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0198 a0002c0002t0021g0198	1	238	0.0042	20	c.717 others(37): Show c.717-7414_717-7413insGTGTATATATATATATATAT	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDK11B_chr1_1630225_1664004	1650268	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG01346.hp2 others(6): Show HG00323.hp1 HG00423.hp1 HG01346.hp2 HG01433.hp2 HG02040.hp2 NA18977.hp2 NA18987.hp1 NA19074.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0003t0002 a0001c0003t0003	a0001c0001t0001g0235 a0001c0001t0002g0232 a0001c0001t0002g0233 others(6): Show a0001c0001t0001g0235 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0262 a0001c0001t0007g0234 a0001c0001t0007g0268 a0001c0003t0002g0030 a0001c0003t0002g0263 a0001c0003t0003g0258	9	446	0.0202	20	c.356 others(35): Show c.356-632_356-631insTTTTTTTTTTTTTTTTTTTT	CDK11B	ENSG00000248333.9	transcript	ENST00000341832.11	protein_coding	4/19			chr1	TogoVar
CDK11B_chr1_1630225_1664004	1650281	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	446	0.0022	20	c.356 others(35): Show c.356-645_356-644insCTTTTTTTTTTTTTTTTTTT	CDK11B	ENSG00000248333.9	transcript	ENST00000341832.11	protein_coding	4/19			chr1	TogoVar
CDK12_chr17_39456486_39539544	39476711	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	260	0.0039	20	c.193 others(39): Show c.1931+4958_1931+4977dupTTTTTTTTTTTTTTTTTTTT	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK12_chr17_39456486_39539544	39532102	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTATCTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01257.hp1 others(4): Show HG01070.hp1 HG01071.hp2 HG01257.hp1 HG02055.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0009 a0001c0001t0011 a0001c0007t0009 a0001c0001t0009 a0001c0001t0011 a0001c0007t0009	a0001c0001t0009g0087 a0001c0001t0009g0088 a0001c0001t0009g0108 others(4): Show a0001c0001t0009g0087 a0001c0001t0009g0088 a0001c0001t0009g0108 a0001c0001t0011g0103 a0001c0001t0011g0104 a0001c0001t0011g0105 a0001c0007t0009g0098	7	260	0.0269	20	c.79 others(29): Show c.799_*800insATCTCTCTCTCTCTCTCTCT	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	14/14	800	INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK12_chr17_39456486_39539544	39532106	C C	CTCTCTTT others(13): Show CTCTCTTTCTCTCTCTCTCTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0111 a0001c0001t0052g0111	1	260	0.0039	20	c.79 others(29): Show c.795_*796insTTCTCTCTCTCTCTATCTCT	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	14/14	796	INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK12_chr17_39456486_39539544	39532140	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp1 HG02717.hp1 HG02451.hp1 HG02717.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0006 a0001c0002 a0007c0006	a0001c0002t0019 a0007c0006t0019 a0001c0002t0019 a0007c0006t0019	a0001c0002t0019g0009 a0007c0006t0019g0007 a0001c0002t0019g0009 a0007c0006t0019g0007	2	260	0.0077	20	c.82 others(29): Show c.827_*828insCTCTCTCTCTCTCTCTGTCT	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	14/14	828	INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK13_chr7_39945256_40104580	39976288	G G	GTCTCTCT others(13): Show GTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG01256.hp2 others(3): Show HG00280.hp2 HG00597.hp2 HG01256.hp2 HG01978.hp2 NA19004.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0076 others(3): Show a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0023g0089	6	322	0.0186	20	c.121 others(41): Show c.1212-11294_1212-11275dupTCTCTCTCTCTCTCTCTCTC	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK13_chr7_39945256_40104580	39976323	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04184.hp1 HG04115.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0016 a0001c0001t0001g0041	2	322	0.0062	20	c.121 others(41): Show c.1212-11259_1212-11240dupCACACACACACACACACACA	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(13): Show TCTCTCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG02055.hp2 HG01081.hp2 HG01106.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0001 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0040 a0001c0001t0006g0029 a0001c0001t0008g0020 a0001c0001t0001g0040 a0001c0001t0006g0029 a0001c0001t0008g0020	3	322	0.0093	20	c.121 others(41): Show c.1212-11275_1212-11274insTCTCTCACACACACACACAC	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(13): Show TCTCTCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03209.hp1 HG03209.hp2 others(1): Show HG01106.hp2 HG03209.hp1 HG03209.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0008 a0001c0003t0009 a0001c0001t0001 a0001c0001t0008 a0001c0003t0009	a0001c0001t0001g0047 a0001c0001t0008g0015 a0001c0001t0008g0022 others(1): Show a0001c0001t0001g0047 a0001c0001t0008g0015 a0001c0001t0008g0022 a0001c0003t0009g0303	4	322	0.0124	20	c.121 others(41): Show c.1212-11275_1212-11274insTCTCTCTCACACACACACAC	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(13): Show TCTCTCTCTCTCACACACACA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03130.hp2 HG02257.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0009 a0001c0001t0001 a0001c0003t0009	a0001c0001t0001g0306 a0001c0003t0009g0299 a0001c0001t0001g0306 a0001c0003t0009g0299	2	322	0.0062	20	c.121 others(41): Show c.1212-11275_1212-11274insTCTCTCTCTCACACACACAC	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(13): Show TCTCTCTCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01496.hp1 NA19010.hp2 HG01074.hp2 HG01496.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0178	3	322	0.0093	20	c.121 others(41): Show c.1212-11275_1212-11274insTCTCTCTCTCTCTCACACAC	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(13): Show TCTCTCTCTCTCTCTCTCACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG01168.hp1 others(12): Show HG00323.hp1 HG00741.hp2 HG01168.hp1 HG01261.hp1 HG01975.hp1 HG02135.hp1 HG02258.hp1 HG02922.hp2 NA18951.hp1 NA18995.hp2 NA19000.hp2 NA19010.hp1 NA19058.hp1 NA20805.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0018 a0003c0006 a0001c0001 a0001c0018 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0018t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0018t0001 a0003c0006t0003	a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 others(12): Show a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0146 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0177 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0107 a0001c0001t0003g0134 a0001c0001t0003g0163 a0001c0018t0001g0124 a0003c0006t0003g0127	15	322	0.0466	20	c.121 others(41): Show c.1212-11275_1212-11274insTCTCTCTCTCTCTCTCACAC	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(13): Show TCTCTCTCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03017.hp1 HG03492.hp1 HG01167.hp1 HG03017.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0142 a0001c0001t0001g0169 a0001c0001t0001g0170	3	322	0.0093	20	c.121 others(41): Show c.1212-11275_1212-11274insTCTCTCTCTCTCTCTCTCAC	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90621655	T T	TCCTGCCT others(13): Show TCCTGCCTTCCTGCCTTCCTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01496.hp2 HG01891.hp1 others(8): Show HG00642.hp2 HG01496.hp2 HG01891.hp1 HG02257.hp1 HG02258.hp2 HG03579.hp1 HG03654.hp2 HG04204.hp1 NA18522.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0025 a0001c0002t0021	a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0104 others(8): Show a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0002g0113 a0001c0001t0005g0112 a0001c0001t0006g0107 a0001c0001t0015g0099 a0001c0001t0025g0106 a0001c0002t0021g0108	11	168	0.0655	20	c.123 others(39): Show c.123+17409_123+17410insGCCTTCCTGCCTTCCTGCCT	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90621663	T T	TCCTGCCT others(13): Show TCCTGCCTTCCTGCCTTCCTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00738.hp2 NA18979.hp1 HG00621.hp2 HG00738.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0016 a0001c0001t0003 a0001c0001t0009 a0001c0001t0016	a0001c0001t0003g0070 a0001c0001t0009g0056 a0001c0001t0016g0033 a0001c0001t0003g0070 a0001c0001t0009g0056 a0001c0001t0016g0033	3	168	0.0179	20	c.123 others(39): Show c.123+17417_123+17418insGCCTTCCTGCCTTCCTGCCT	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90649252	C C	CTTTGTTT others(13): Show CTTTGTTTCTTTGTTTCTTTG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	168	0.0060	20	c.123 others(39): Show c.123+45006_123+45007insGTTTCTTTGTTTCTTTGTTT	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90659837	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03579.hp2 NA19043.hp2 HG02109.hp1 HG03579.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0006g0030 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0006g0030	3	168	0.0179	20	c.123 others(39): Show c.123+55608_123+55627dupCTCTCTCTCTCTCTCTCTCT	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr7	TogoVar

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