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.

⚠️ 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	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
PDE4D_chr5_58964038_59898726	59065063	TATATACA others(17): Show TATATACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01257.hp1 HG01361.hp1 others(3): Show HG01071.hp2 HG01257.hp1 HG01361.hp1 HG01952.hp2 HG02698.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0048 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0020g0027	6	74	0.0811	-24	c.809 others(43): Show c.809-26116_809-26093delGTGTGTGTGTGTGTGTGTGTATAT		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59065067	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0035 a0001c0001t0010g0035	1	74	0.0135	-24	c.809 others(43): Show c.809-26120_809-26097delGTGTGTGTGTGTGTGTGTGTGTGT		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59172080	TTATATAT others(17): Show TTATATATATAATAAATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	74	0.0135	-24	c.808 others(41): Show c.808+8491_808+8514delTAATATATATTTATTATATATATA		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59574071	TTTATATA others(17): Show TTTATATATATATTTATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	74	0.0135	-24	c.455 others(45): Show c.455+319073_455+319096delTTATATATATAAATATATATATAA		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59574084	TTATATAT others(17): Show TTATATATATAAATATATATTTATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0002 a0001c0001t0017g0002	1	74	0.0135	-24	c.455 others(45): Show c.455+319060_455+319083delTATAAATATATATTTATATATATA		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59651258	CAATAATA others(17): Show CAATAATAATAATAATAATAATAAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03540.hp2 NA19043.hp1 HG02451.hp2 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0022 a0001c0001t0003 a0001c0001t0009 a0001c0001t0022	a0001c0001t0003g0042 a0001c0001t0009g0013 a0001c0001t0022g0025 a0001c0001t0003g0042 a0001c0001t0009g0013 a0001c0001t0022g0025	3	74	0.0405	-24	c.455 others(45): Show c.455+241886_455+241909delATTATTATTATTATTATTATTATT		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149923555	TAACATAA others(17): Show TAACATAACATAACATAACATAACA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01123.hp1 HG01928.hp2 others(38): Show HG00558.hp1 HG01123.hp1 HG01928.hp2 HG01934.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02451.hp2 HG02622.hp1 HG02717.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18949.hp1 NA18979.hp1 NA19007.hp1 NA19011.hp2 NA19064.hp1 NA19074.hp1 NA19077.hp1 NA19091.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0009 a0001c0031 a0002c0003 a0002c0012 a0004c0014	a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 others(24): Show a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0015 a0001c0002t0017 a0001c0002t0021 a0001c0002t0022 a0001c0002t0039 a0001c0002t0041 a0001c0002t0069 a0001c0004t0006 a0001c0004t0019 a0001c0008t0006 a0001c0008t0019 a0001c0009t0027 a0001c0009t0056 a0001c0031t0008 a0002c0003t0001 a0002c0003t0026 a0002c0003t0043 a0002c0012t0006 a0004c0014t0025	a0001c0001t0017g0113 a0001c0002t0001g0233 a0001c0002t0001g0236 others(38): Show a0001c0001t0017g0113 a0001c0002t0001g0233 a0001c0002t0001g0236 a0001c0002t0001g0239 a0001c0002t0001g0241 a0001c0002t0001g0244 a0001c0002t0001g0254 a0001c0002t0001g0277 a0001c0002t0001g0290 a0001c0002t0002g0261 a0001c0002t0002g0292 a0001c0002t0003g0253 a0001c0002t0003g0260 a0001c0002t0003g0282 a0001c0002t0003g0295 a0001c0002t0005g0273 a0001c0002t0006g0280 a0001c0002t0007g0263 a0001c0002t0009g0238 a0001c0002t0015g0299 a0001c0002t0017g0279 a0001c0002t0021g0257 a0001c0002t0022g0231 a0001c0002t0039g0269 a0001c0002t0041g0289 a0001c0002t0069g0258 a0001c0004t0006g0115 a0001c0004t0019g0199 a0001c0004t0019g0200 a0001c0008t0006g0275 a0001c0008t0019g0242 a0001c0009t0027g0175 a0001c0009t0056g0109 a0001c0031t0008g0232 a0002c0003t0001g0212 a0002c0003t0026g0218 a0002c0003t0043g0213 a0002c0012t0006g0211 a0002c0012t0006g0217 a0004c0014t0025g0012 a0004c0014t0025g0013	41	328	0.1250	-24	c.859 others(41): Show c.859-1870_859-1847delTGTTATGTTATGTTATGTTATGTT		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar
PDE6C_chr10_93607537_93671010	93654750	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01261.hp2 HG02055.hp1 others(19): Show HG00639.hp1 HG01261.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02622.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02965.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 NA19043.hp1 NA21309.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0005 a0002c0002 others(3): Show a0001c0001 a0001c0005 a0002c0002 a0002c0003 a0002c0004 a0008c0019	a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 a0001c0005t0003 a0002c0002t0001 a0002c0003t0001 a0002c0003t0003 a0002c0004t0001 a0008c0019t0001	a0001c0001t0001g0169 a0001c0001t0001g0209 a0001c0001t0001g0210 others(19): Show a0001c0001t0001g0169 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0347 a0001c0001t0003g0125 a0001c0001t0003g0143 a0001c0001t0003g0208 a0001c0001t0003g0246 a0001c0005t0001g0204 a0001c0005t0003g0248 a0002c0002t0001g0268 a0002c0003t0001g0100 a0002c0003t0001g0144 a0002c0003t0001g0147 a0002c0003t0001g0151 a0002c0003t0001g0253 a0002c0003t0001g0256 a0002c0003t0003g0317 a0002c0004t0001g0145 a0002c0004t0001g0148 a0002c0004t0001g0153 a0008c0019t0001g0152	22	384	0.0573	-24	c.193 others(41): Show c.1936-970_1936-947delCTTTCTTTCTTTCTTTCTTTCTTT		PDE6C	ENSG00000095464.10	transcript	ENST00000371447.4	protein_coding	15/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PDE7B_chr6_135846701_136200574	135948876	TAGATAGA others(17): Show TAGATAGATAGATAGATAGATAGAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0093 a0001c0001t0015g0093	1	142	0.0070	-24	c.82+ others(39): Show c.82+1356_82+1379delTAGATAGATAGATAGATAGACAGA		PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	135948880	TAGATAGA others(17): Show TAGATAGATAGATAGATAGACAGAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02886.hp2 HG02922.hp1 HG01891.hp1 HG02886.hp2 HG02922.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0005 a0003c0004t0013 a0001c0001t0005 a0003c0004t0013	a0001c0001t0005g0012 a0001c0001t0005g0020 a0003c0004t0013g0024 a0001c0001t0005g0012 a0001c0001t0005g0020 a0003c0004t0013g0024	3	142	0.0211	-24	c.82+ others(39): Show c.82+1360_82+1383delTAGATAGATAGATAGACAGACAGA		PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE8A_chr15_84976856_85144142	85066583	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01167.hp1 HG01255.hp2 others(9): Show HG01099.hp2 HG01167.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG02970.hp1 NA18906.hp1 NA18939.hp2 NA18944.hp1 NA18966.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(9): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0198 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0002g0262 a0001c0001t0002g0263	12	344	0.0349	-24	c.244 others(39): Show c.244-395_244-372delCACACACACACACACACACACACA		PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE9A_chr21_42648621_42780509	42670047	ACACACAC others(17): Show ACACACACTTACACATTCACACACT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	324	0.0031	-24	c.70- others(41): Show c.70-16140_70-16117delCACTTACACATTCACACACTCACA		PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42670336	TCACATAC others(17): Show TCACATACATTTACACACACATCCA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02257.hp1 others(2): Show HG01167.hp2 HG01169.hp2 HG02257.hp1 HG02451.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0001c0009t0004	a0001c0001t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0247 others(2): Show a0001c0001t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0009t0001g0246 a0001c0009t0004g0243	5	324	0.0154	-24	c.70- others(41): Show c.70-15851_70-15828delTACATTTACACACACATCCACACA		PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42740610	GATGGATG others(17): Show GATGGATGGATGGATGAATGGATAC	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0267 a0001c0002t0001g0267	1	324	0.0031	-24	c.569 others(41): Show c.569-3163_569-3140delGGATGGATGGATGAATGGATACAT		PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	7/19					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFA_chr7_492258_524846	513206	TTACAGCC others(17): Show TTACAGCCAGGCGGCCAGGTGCAGG	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0010 a0001c0001t0049g0010	1	302	0.0033	-24	c.161 others(39): Show c.161-775_161-752delCCTGCACCTGGCCGCCTGGCTGTA		PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	2/5						chr7	TogoVar
PDGFB_chr22_39218359_39249982	39247875	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG02165.hp1 others(1): Show HG01516.hp2 HG01517.hp1 HG02165.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0001 a0001c0001t0034	a0001c0001t0001g0032 a0001c0001t0001g0174 a0001c0001t0034g0150 a0001c0001t0001g0032 a0001c0001t0001g0174 a0001c0001t0034g0150	4	386	0.0104	-24	c.-39 others(35): Show c.-3936_-3913delATATATATATTTTTTTTTTTTTTT		PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding					2894		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247877	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	386	0.0026	-24	c.-39 others(35): Show c.-3938_-3915delATATATATATATTTTTTTTTTTTT		PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding					2896		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247881	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 NA18906.hp2 HG01175.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0198 a0001c0001t0012g0087 a0001c0001t0002g0198 a0001c0001t0012g0087	2	386	0.0052	-24	c.-39 others(35): Show c.-3942_-3919delATATATATATATATATTTTTTTTT		PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding					2900		chr22	TogoVar
PDGFC_chr4_156755454_156976799	156825575	TAATAATA others(17): Show TAATAATAATAATAATAATAAGAAG	T T	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0207 a0001c0001t0003g0207	1	208	0.0048	-24	c.315 others(43): Show c.315-14582_315-14559delCTTCTTATTATTATTATTATTATT		PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5						chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825578	TAATAATA others(17): Show TAATAATAATAATAATAAGAAGAAG	T T	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19082.hp1 NA19084.hp1 NA19077.hp2 NA19082.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0202 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0202	3	208	0.0144	-24	c.315 others(43): Show c.315-14585_315-14562delCTTCTTCTTATTATTATTATTATT		PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5						chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825581	TAATAATA others(17): Show TAATAATAATAATAAGAAGAAGAAG	T T	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	208	0.0048	-24	c.315 others(43): Show c.315-14588_315-14565delCTTCTTCTTCTTATTATTATTATT		PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5						chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825584	TAATAATA others(17): Show TAATAATAATAAGAAGAAGAAGAAG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA19090.hp2 HG01099.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0197 a0001c0001t0014g0053 a0001c0001t0003g0197 a0001c0001t0014g0053	2	208	0.0096	-24	c.315 others(43): Show c.315-14591_315-14568delCTTCTTCTTCTTCTTATTATTATT		PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5						chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825587	TAATAATA others(17): Show TAATAATAAGAAGAAGAAGAAGAAG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0054 a0001c0001t0014g0054	1	208	0.0048	-24	c.315 others(43): Show c.315-14594_315-14571delCTTCTTCTTCTTCTTCTTATTATT		PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5						chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825593	TAAGAAGA others(17): Show TAAGAAGAAGAAGAAGAAGAAGAAG	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0177 a0001c0003t0029g0177	1	208	0.0048	-24	c.315 others(43): Show c.315-14600_315-14577delCTTCTTCTTCTTCTTCTTCTTCTT		PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5						chr4	TogoVar
PDGFC_chr4_156755454_156976799	156891279	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG04184.hp1 NA19081.hp1 HG03098.hp1 HG04184.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0002g0111 a0001c0001t0003g0191 a0001c0002t0002g0034 a0001c0001t0002g0111 a0001c0001t0003g0191 a0001c0002t0002g0034	3	208	0.0144	-24	c.119 others(43): Show c.119-40887_119-40864delTTTTTTTTTTTTTTTTTTTTTTTT		PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5						chr4	TogoVar
PDGFC_chr4_156755454_156976799	156920644	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01884.hp2 HG01891.hp1 others(19): Show HG01123.hp1 HG01884.hp2 HG01891.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0023 a0001c0001t0024 a0001c0001t0032 a0001c0003t0029	a0001c0001t0001g0174 a0001c0001t0002g0067 a0001c0001t0002g0178 others(19): Show a0001c0001t0001g0174 a0001c0001t0002g0067 a0001c0001t0002g0178 a0001c0001t0004g0089 a0001c0001t0004g0170 a0001c0001t0004g0176 a0001c0001t0005g0175 a0001c0001t0009g0035 a0001c0001t0009g0172 a0001c0001t0009g0173 a0001c0001t0010g0006 a0001c0001t0010g0008 a0001c0001t0010g0009 a0001c0001t0010g0011 a0001c0001t0011g0091 a0001c0001t0011g0092 a0001c0001t0012g0181 a0001c0001t0012g0183 a0001c0001t0023g0013 a0001c0001t0024g0012 a0001c0001t0032g0010 a0001c0003t0029g0177	22	208	0.1058	-24	c.118 others(43): Show c.118+50118_118+50141delGTGTGTGTGTGTGTGTGTGTGTGT		PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5						chr4	TogoVar
PDGFC_chr4_156755454_156976799	156945342	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03540.hp1 HG04228.hp1 HG02976.hp2 HG03540.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0002g0178 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0002g0178	3	208	0.0144	-24	c.118 others(43): Show c.118+25420_118+25443delATATATATATATATATATATATAT		PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5						chr4	TogoVar
PDGFD_chr11_103902189_104169147	103955163	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02723.hp1 HG01109.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0196 a0001c0001t0003g0146 a0001c0001t0003g0196	2	200	0.0100	-24	c.511 others(41): Show c.511-7463_511-7440delTTTTTTTTTTTTTTTTTTTTTTTT		PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	3/6						chr11	TogoVar
PDGFD_chr11_103902189_104169147	103985078	TATTTATT others(17): Show TATTTATTTAATATATTATATATTA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00738.hp1 others(38): Show HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01109.hp2 HG01255.hp1 HG01256.hp1 HG01496.hp1 HG02055.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02602.hp1 HG02622.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp1 HG03041.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 NA18950.hp1 NA18957.hp2 NA18973.hp2 NA18992.hp1 NA19002.hp1 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19081.hp2 NA19085.hp2 NA19088.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0014 a0003c0005t0002	a0001c0001t0002g0077 a0001c0001t0002g0099 a0001c0001t0002g0110 others(38): Show a0001c0001t0002g0077 a0001c0001t0002g0099 a0001c0001t0002g0110 a0001c0001t0003g0003 a0001c0001t0003g0120 a0001c0001t0003g0123 a0001c0001t0003g0196 a0001c0001t0009g0154 a0001c0001t0009g0192 a0001c0001t0017g0023 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0014 a0001c0002t0001g0028 a0001c0002t0001g0032 a0001c0002t0001g0047 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0091 a0001c0002t0001g0114 a0001c0002t0001g0126 a0001c0002t0001g0130 a0001c0002t0001g0149 a0001c0002t0001g0161 a0001c0002t0001g0168 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0004g0026 a0001c0002t0004g0033 a0001c0002t0004g0037 a0001c0002t0004g0070 a0001c0002t0004g0072 a0001c0002t0004g0173 a0001c0002t0004g0174 a0001c0002t0004g0175 a0001c0002t0005g0191 a0001c0002t0006g0088 a0001c0002t0008g0008 a0001c0002t0008g0031 a0001c0002t0014g0198 a0003c0005t0002g0187	41	200	0.2050	-24	c.510 others(43): Show c.510+10963_510+10986delTAATATATAATATATTAAATAAAT		PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	3/6						chr11	TogoVar
PDGFD_chr11_103902189_104169147	103985094	TATATATT others(17): Show TATATATTAATTTATTTAATATATA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA20805.hp1 HG06807.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0121 a0001c0002t0001g0016 a0001c0002t0001g0121	2	200	0.0100	-24	c.510 others(43): Show c.510+10947_510+10970delTATATATTAAATAAATTAATATAT		PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	3/6						chr11	TogoVar
PDGFD_chr11_103902189_104169147	103985273	CTCATTGT others(17): Show CTCATTGTAACCTCAAACTTGGGCT	C C	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	200	0.0050	-24	c.510 others(43): Show c.510+10768_510+10791delAGCCCAAGTTTGAGGTTACAATGA		PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	3/6						chr11	TogoVar
PDGFRA_chr4_54224293_54303245	54271974	TCCCCTCC others(17): Show TCCCCTCCCCCTCCCCTCCCCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(69): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00544.hp1 HG00558.hp1 HG00738.hp1 HG01515.hp1 HG01517.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp1 HG02293.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18945.hp1 NA18948.hp2 NA18951.hp2 NA18960.hp1 NA18962.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18984.hp1 NA18987.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA19030.hp2 NA19065.hp1 NA19077.hp2 NA19079.hp2 NA19084.hp2 NA19087.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0010 a0001c0013 others(3): Show a0001c0001 a0001c0010 a0001c0013 a0002c0002 a0002c0005 a0006c0020	a0001c0001t0001 a0001c0010t0014 a0001c0013t0007 others(9): Show a0001c0001t0001 a0001c0010t0014 a0001c0013t0007 a0002c0002t0002 a0002c0002t0016 a0002c0002t0017 a0002c0002t0025 a0002c0002t0026 a0002c0005t0006 a0002c0005t0008 a0002c0005t0022 a0006c0020t0002	a0001c0001t0001g0244 a0001c0010t0014g0257 a0001c0013t0007g0276 others(69): Show a0001c0001t0001g0244 a0001c0010t0014g0257 a0001c0013t0007g0276 a0001c0013t0007g0277 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0108 a0002c0002t0016g0013 a0002c0002t0016g0014 a0002c0002t0017g0065 a0002c0002t0017g0072 a0002c0002t0025g0113 a0002c0002t0026g0090 a0002c0005t0006g0069 a0002c0005t0008g0040 a0002c0005t0008g0047 a0002c0005t0008g0082 a0002c0005t0008g0110 a0002c0005t0022g0011 a0006c0020t0002g0010	72	300	0.2400	-24	c.123 others(41): Show c.1238-415_1238-392delTCCCCCTCCCCTCCCCCCTCCCCC		PDGFRA	ENSG00000134853.12	transcript	ENST00000257290.10	protein_coding	8/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDGFRB_chr5_150108839_150160845	150137944	AAGAGACA others(17): Show AAGAGACAGAAGCAAGGACAAAGAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp2 HG02055.hp1 others(15): Show HG00735.hp2 HG01175.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02630.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03471.hp2 NA18906.hp2 NA19240.hp1 NA20300.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0007	a0002c0006 a0003c0009 a0003c0031 others(2): Show a0002c0006 a0003c0009 a0003c0031 a0005c0010 a0007c0030	a0002c0006t0001 a0002c0006t0007 a0003c0009t0013 others(4): Show a0002c0006t0001 a0002c0006t0007 a0003c0009t0013 a0003c0031t0003 a0005c0010t0014 a0005c0010t0019 a0007c0030t0007	a0002c0006t0001g0082 a0002c0006t0007g0011 a0002c0006t0007g0047 others(13): Show a0002c0006t0001g0082 a0002c0006t0007g0011 a0002c0006t0007g0047 a0002c0006t0007g0048 a0002c0006t0007g0080 a0002c0006t0007g0081 a0003c0009t0013g0013 a0003c0009t0013g0078 a0003c0009t0013g0113 a0003c0009t0013g0173 a0003c0031t0003g0112 a0005c0010t0014g0039 a0005c0010t0014g0041 a0005c0010t0014g0042 a0005c0010t0019g0040 a0007c0030t0007g0083	18	418	0.0431	-24	c.-6- others(37): Show c.-6-915_-6-892delGTCTTTGTCCTTGCTTCTGTCTCT		PDGFRB	ENSG00000113721.14	transcript	ENST00000261799.9	protein_coding	1/22						chr5	TogoVar
PDIA4_chr7_148998062_149033505	149008709	TAAAAAGA others(17): Show TAAAAAGAAAAAAAAAAAAGAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01952.hp1 HG02451.hp2 others(15): Show HG01891.hp2 HG01952.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG02896.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA19240.hp1 NA21309.hp1	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0001c0006 a0001c0009 others(5): Show a0001c0001 a0001c0006 a0001c0009 a0001c0011 a0001c0019 a0001c0020 a0008c0016 a0009c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0016 a0001c0001t0018 a0001c0006t0009 a0001c0006t0015 a0001c0009t0004 a0001c0011t0004 a0001c0019t0013 a0001c0020t0017 a0008c0016t0004 a0009c0015t0004	a0001c0001t0001g0193 a0001c0001t0004g0049 a0001c0001t0004g0197 others(13): Show a0001c0001t0001g0193 a0001c0001t0004g0049 a0001c0001t0004g0197 a0001c0001t0004g0204 a0001c0001t0004g0218 a0001c0001t0006g0020 a0001c0001t0016g0052 a0001c0001t0018g0048 a0001c0006t0009g0045 a0001c0006t0015g0228 a0001c0009t0004g0046 a0001c0011t0004g0099 a0001c0019t0013g0196 a0001c0020t0017g0234 a0008c0016t0004g0050 a0009c0015t0004g0203	18	352	0.0511	-24	c.980 others(39): Show c.980-423_980-400delTTTTTCTTTTTTTTTTTTCTTTTT		PDIA4	ENSG00000155660.11	transcript	ENST00000652332.1	protein_coding	6/9						chr7	TogoVar
PDIA6_chr2_10778391_10817785	10805429	TGGAGAAA others(17): Show TGGAGAAATAGGAACACTTTTACAC	T T	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	342	0.0029	-24	c.20- others(39): Show c.20-2813_20-2790delGTGTAAAAGTGTTCCTATTTCTCC		PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12						chr2	TogoVar
PDILT_chr16_20354175_20409737	20366936	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01361.hp1 HG02622.hp2 others(2): Show HG01099.hp1 HG01361.hp1 HG02622.hp2 HG03486.hp2 NA20300.hp2	a0003 a0004 a0009 others(1): Show a0003 a0004 a0009 a0020	a0003c0002 a0004c0006 a0009c0012 others(1): Show a0003c0002 a0004c0006 a0009c0012 a0020c0020	a0003c0002t0001 a0004c0006t0001 a0009c0012t0001 others(1): Show a0003c0002t0001 a0004c0006t0001 a0009c0012t0001 a0020c0020t0002	a0003c0002t0001g0161 a0003c0002t0001g0236 a0004c0006t0001g0099 others(2): Show a0003c0002t0001g0161 a0003c0002t0001g0236 a0004c0006t0001g0099 a0009c0012t0001g0137 a0020c0020t0002g0015	5	406	0.0123	-24	c.111 others(43): Show c.1117-1420_1117-1397delGGAAGGAAGGAAGGAAGGAAGGAA		PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	8/11						chr16	TogoVar
PDILT_chr16_20354175_20409737	20367024	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(23): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00738.hp2 HG01099.hp2 HG01515.hp2 HG01952.hp1 HG02280.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02965.hp2 HG03098.hp1 HG03209.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG04115.hp2 NA18906.hp2 NA18966.hp1 NA18997.hp1 NA19077.hp1 NA19089.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0017 a0019 a0021	a0001c0001 a0002c0005 a0003c0002 others(4): Show a0001c0001 a0002c0005 a0003c0002 a0004c0006 a0017c0027 a0019c0032 a0021c0018	a0001c0001t0001 a0002c0005t0001 a0003c0002t0001 others(5): Show a0001c0001t0001 a0002c0005t0001 a0003c0002t0001 a0004c0006t0001 a0004c0006t0003 a0017c0027t0001 a0019c0032t0001 a0021c0018t0002	a0001c0001t0001g0031 a0001c0001t0001g0134 a0001c0001t0001g0135 others(23): Show a0001c0001t0001g0031 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0164 a0001c0001t0001g0170 a0002c0005t0001g0367 a0003c0002t0001g0033 a0003c0002t0001g0061 a0003c0002t0001g0063 a0003c0002t0001g0103 a0003c0002t0001g0104 a0003c0002t0001g0121 a0003c0002t0001g0122 a0003c0002t0001g0131 a0003c0002t0001g0209 a0003c0002t0001g0219 a0003c0002t0001g0244 a0003c0002t0001g0309 a0003c0002t0001g0381 a0004c0006t0001g0238 a0004c0006t0001g0327 a0004c0006t0003g0232 a0017c0027t0001g0114 a0019c0032t0001g0255 a0021c0018t0002g0019	26	406	0.0640	-24	c.111 others(43): Show c.1117-1508_1117-1485delAGAAAGAAAGAAAGAAAGAAAGAA		PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	8/11						chr16	TogoVar
PDK4_chr7_95578499_95601516	95580039	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00544.hp2 others(20): Show HG00140.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG01256.hp1 HG01258.hp1 HG02165.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp1 NA18906.hp2 NA18950.hp2 NA18956.hp2 NA18980.hp2 NA18999.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0081 a0001c0001t0001g0093 a0001c0001t0003g0028 a0001c0001t0004g0005 a0001c0001t0008g0014 a0001c0001t0010g0035 a0001c0001t0013g0015 a0001c0001t0016g0041	23	384	0.0599	-24	c.55 others(35): Show c.5578_*5601delTATATATATATATATATATATATA		PDK4	ENSG00000004799.8	transcript	ENST00000005178.6	protein_coding					3459		chr7	TogoVar
PDLIM7_chr5_177478394_177502604	177490708	GGAAGGGA others(17): Show GGAAGGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0082 a0002c0003t0001g0082	1	440	0.0023	-24	c.572 others(39): Show c.572+138_572+161delTTCCTTCCTTCCTTCCTTCCCTTC		PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	7/12						chr5	TogoVar
PDP2_chr16_66875515_66896101	66887991	GTCCTTCC others(17): Show GTCCTTCCTTCCTTCCTTCCTTCCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00738.hp2 others(29): Show HG00558.hp2 HG00609.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01243.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG04184.hp1 HG04199.hp1 NA18747.hp2 NA19030.hp2 NA19056.hp2 NA19081.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0007 a0001c0001t0010 a0001c0001t0020 others(5): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0020 a0001c0001t0026 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0007t0007	a0001c0001t0007g0004 a0001c0001t0007g0012 a0001c0001t0007g0021 others(11): Show a0001c0001t0007g0004 a0001c0001t0007g0012 a0001c0001t0007g0021 a0001c0001t0007g0027 a0001c0001t0007g0033 a0001c0001t0010g0003 a0001c0001t0020g0004 a0001c0001t0020g0026 a0001c0001t0026g0003 a0001c0001t0026g0013 a0001c0001t0054g0004 a0001c0001t0055g0004 a0001c0001t0056g0004 a0001c0007t0007g0021	32	356	0.0899	-24	c.21 others(35): Show c.2162_*2185delTCCTTCCTTCCTTCCTTCCTTCCT		PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding	2/2				2162	INFO_REALIGN_3_PRIME	chr16	TogoVar
PDS5A_chr4_39817863_39982911	39817880	CTATATAT others(17): Show CTATATATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00438.hp1 others(66): Show HG00099.hp1 HG00323.hp1 HG00438.hp1 HG00609.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02135.hp1 HG02280.hp2 HG02486.hp1 HG02735.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 NA18747.hp1 NA18906.hp2 NA18944.hp1 NA18949.hp2 NA18961.hp2 NA18966.hp2 NA18973.hp2 NA18983.hp1 NA18988.hp2 NA18992.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19009.hp2 NA19065.hp1 NA19084.hp2 NA19088.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0020 a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0002t0018 a0001c0009t0003 a0001c0014t0003	a0001c0001t0001g0022 a0001c0001t0001g0065 a0001c0001t0001g0102 others(66): Show a0001c0001t0001g0022 a0001c0001t0001g0065 a0001c0001t0001g0102 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0288 a0001c0001t0006g0239 a0001c0001t0020g0270 a0001c0002t0002g0214 a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0131 a0001c0002t0003g0132 a0001c0002t0003g0135 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0003g0141 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0150 a0001c0002t0003g0152 a0001c0002t0003g0154 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0010g0129 a0001c0002t0010g0140 a0001c0002t0010g0164 a0001c0002t0018g0125 a0001c0009t0003g0151 a0001c0014t0003g0157	69	356	0.1938	-24	c.75 others(35): Show c.7581_*7604delTATATATATATATATATATATATA		PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding					4982		chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842903	CTATTTTT others(17): Show CTATTTTTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18992.hp2 NA19004.hp1 others(1): Show NA18983.hp2 NA18992.hp2 NA19004.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0323 a0001c0002t0004g0335 a0001c0002t0004g0336 others(1): Show a0001c0002t0004g0323 a0001c0002t0004g0335 a0001c0002t0004g0336 a0001c0002t0004g0353	4	356	0.0112	-24	c.354 others(41): Show c.3549-871_3549-848delTATATATATATATATATAAAAATA		PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32						chr4	TogoVar
PDSS2_chr6_107147562_107464564	107429899	AAAATATA others(17): Show AAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	260	0.0039	-24	c.296 others(43): Show c.296+29067_296+29090delATATATATATATATATATATATTT		PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7						chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0093 a0001c0001t0005g0093	1	260	0.0039	-24	c.296 others(43): Show c.296+29065_296+29088delATATATATATATATATATATATAT		PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7						chr6	TogoVar
PDXK_chr21_43714129_43767299	43741164	CGGGGGGG others(17): Show CGGGGGGGCTCGCGGGGGGCTCGCG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	358	0.0028	-24	c.143 others(39): Show c.143-496_143-473delGCTCGCGGGGGGCTCGCGGGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXP_chr22_37653723_37671932	37661917	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18984.hp2 HG02300.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	2	418	0.0048	-24	c.574 others(41): Show c.574+2580_574+2603delTTTTTTTTTTTTTTTTTTTTTTTT		PDXP	ENSG00000241360.2	transcript	ENST00000215904.7	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr22	TogoVar
PDZD2_chr5_31634131_32115932	31662836	TAGCCAGG others(17): Show TAGCCAGGATGGTCTTGATCTCCTG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	216	0.0046	-24	c.-36 others(45): Show c.-361+23401_-361+23424delGCCAGGATGGTCTTGATCTCCTGA		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31840396	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0149 a0001c0001t0021g0149	1	216	0.0046	-24	c.476 others(43): Show c.476+40702_476+40725delATATATATATATATATATATATAT		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32000479	GTTTGTTT others(17): Show GTTTGTTTTTGTTTTTGTTTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02080.hp1 HG02602.hp2 HG00597.hp2 HG02080.hp1 HG02602.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0003c0008 a0002c0002 a0003c0004 a0003c0008	a0002c0002t0003 a0003c0004t0011 a0003c0008t0012 a0002c0002t0003 a0003c0004t0011 a0003c0008t0012	a0002c0002t0003g0021 a0003c0004t0011g0124 a0003c0008t0012g0030 a0002c0002t0003g0021 a0003c0004t0011g0124 a0003c0008t0012g0030	3	216	0.0139	-24	c.125 others(41): Show c.1254+230_1254+253delGTTTTTGTTTTTGTTTTTGTTTTT		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	5/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD7_chr10_101002679_101036129	101010546	GCGGCTGC others(17): Show GCGGCTGCGGCTACGGCTGCGGCTA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18959.hp1 NA18959.hp1	a0019 a0019	a0019c0027 a0019c0027	a0019c0027t0002 a0019c0027t0002	a0019c0027t0002g0325 a0019c0027t0002g0325	1	432	0.0023	-24	c.231 others(33): Show c.2319_2342delTAGCCGCAGCCGTAGCCGCAGCCG	p.Ser others(13): Show p.Ser774_Arg781del	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	15/17	2564/4112	2319/3102	773/1033			chr10	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)