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
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp1 HG01243.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0017 a0001c0004t0006 a0001c0001t0017 a0001c0004t0006	a0001c0001t0017g0179 a0001c0004t0006g0180 a0001c0001t0017g0179 a0001c0004t0006g0180	2	328	0.0061	19	c.858 others(36): Show c.858+2796_858+2797insAAAAAAAAAAAAAAATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6B_chr4_620573_675782	642725	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02970.hp2 HG03225.hp1 others(1): Show HG02647.hp1 HG02970.hp2 HG03225.hp1 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0272 a0002c0003t0005g0273 a0002c0003t0005g0275 others(1): Show a0002c0003t0005g0272 a0002c0003t0005g0273 a0002c0003t0005g0275 a0002c0003t0005g0277	4	308	0.0130	19	c.711 others(36): Show c.711+6763_711+6781dupAAAAAAAAAAAAAAAAAAA	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	668430	G G	GCTACCCC others(12): Show GCTACCCCATGCTGCTCCCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02922.hp2 HG02976.hp2 others(1): Show HG01167.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0003 a0001c0012t0003 a0001c0001t0003 a0001c0012t0003	a0001c0001t0003g0004 a0001c0012t0003g0024 a0001c0012t0003g0025 a0001c0001t0003g0004 a0001c0012t0003g0024 a0001c0012t0003g0025	4	308	0.0130	19	c.250 others(36): Show c.2503+475_2503+493dupGCTCCCACTACCCCATGCT	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	668580	A A	ACTACCCC others(12): Show ACTACCCCATGCTATTCCCG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	308	0.0033	19	c.250 others(36): Show c.2503+593_2503+611dupGCTACCCCATGCTATTCCC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	669534	C C	CCCATGCT others(12): Show CCCATGCTATTCCCGCTACG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	308	0.0033	19	c.250 others(36): Show c.2504-498_2504-480dupGCTACGCCATGCTATTCCC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	669572	C C	GCCATGCT others(12): Show GCCATGCTATTCCCGCTACC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	308	0.0033	19	c.250 others(36): Show c.2504-475_2504-474insGCCATGCTATTCCCGCTAC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21			chr4	TogoVar
PDE6C_chr10_93607537_93671010	93610322	C C	CCCCGCTC others(12): Show CCCCGCTCAACACAGTGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	384	0.0026	19	c.-24 others(30): Show c.-2404_-2403insCCCGCTCAACACAGTGAAA	PDE6C	ENSG00000095464.10	transcript	ENST00000371447.4	protein_coding		2214		chr10	TogoVar
PDE6H_chr12_14968042_14986865	14982038	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA19012.hp1 NA18962.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	2	448	0.0045	19	c.56 others(28): Show c.562_*563insTTTTTTTTTTTTTTTTTTT	PDE6H	ENSG00000139053.3	transcript	ENST00000266395.3	protein_coding		174		chr12	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0086 a0001c0001t0013g0086	1	248	0.0040	19	c.139 others(38): Show c.139-15364_139-15363insAAATATATATATATATATA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0093 a0001c0004t0013g0093	1	248	0.0040	19	c.139 others(38): Show c.139-15364_139-15363insAAAAATATATATATATATA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE7B_chr6_135846701_136200574	135906813	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0014 a0002c0007t0014	a0002c0007t0014g0067 a0002c0007t0014g0067	1	142	0.0070	19	c.22- others(36): Show c.22-40633_22-40632insGTTTTTTTTTTTTTTTTTT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	135906827	T T	TTTTTGTT others(12): Show TTTTTGTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0028 a0001c0006t0028	a0001c0006t0028g0032 a0001c0006t0028g0032	1	142	0.0070	19	c.22- others(36): Show c.22-40633_22-40632insGTTTTTTTTTTTTTGTTTT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	135906827	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	142	0.0070	19	c.22- others(36): Show c.22-40628_22-40627insTTTTTTTTTGTTTTTTTTT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	135906829	T T	TTTGTTTT others(12): Show TTTGTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG06807.hp1 HG02895.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0002 a0001c0001t0025	a0001c0001t0002g0095 a0001c0001t0025g0010 a0001c0001t0002g0095 a0001c0001t0025g0010	2	142	0.0141	19	c.22- others(36): Show c.22-40633_22-40632insGTTTTTTTTTTTTTTTGTT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	136191013	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG03041.hp2 HG01891.hp1 HG02572.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0022 a0001c0001t0005g0020 a0001c0001t0005g0070 a0001c0001t0002g0022 a0001c0001t0005g0020 a0001c0001t0005g0070	3	142	0.0211	19	c.112 others(36): Show c.1127-595_1127-577dupTTTTTTTTTTTTTTTTTTT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE8A_chr15_84976856_85144142	85119468	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG01975.hp1 others(8): Show HG01109.hp1 HG01167.hp1 HG01975.hp1 HG02040.hp1 HG02148.hp2 HG02622.hp1 HG03491.hp2 NA18942.hp2 NA18994.hp2 NA19056.hp2 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0003c0005t0002 a0001c0001t0001 a0001c0001t0002 a0003c0005t0002	a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0193 others(8): Show a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0002g0258 a0003c0005t0002g0032	11	344	0.0320	19	c.173 others(38): Show c.1735-1316_1735-1315insAAAAAAAAAAAAAAAAAAA	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE8A_chr15_84976856_85144142	85123386	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0344 a0001c0002t0001g0344	1	344	0.0029	19	c.208 others(36): Show c.2085+193_2085+194insCACACACACACACACACAC	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	19/21			chr15	TogoVar
PDE8B_chr5_77205680_77433256	77386865	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03209.hp2 NA19240.hp2 others(1): Show HG00741.hp2 HG03209.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0026 a0001c0001t0002 a0001c0001t0007 a0001c0001t0026	a0001c0001t0002g0303 a0001c0001t0007g0003 a0001c0001t0007g0199 others(1): Show a0001c0001t0002g0303 a0001c0001t0007g0003 a0001c0001t0007g0199 a0001c0001t0026g0036	4	314	0.0127	19	c.116 others(40): Show c.1168-13372_1168-13354dupTTTTTTTTTTTTTTTTTTT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE8B_chr5_77205680_77433256	77397026	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	314	0.0032	19	c.116 others(38): Show c.1168-3216_1168-3198dupTTTTTTTTTTTTTTTTTTT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE8B_chr5_77205680_77433256	77423632	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0091 a0001c0002t0004g0091	1	314	0.0032	19	c.241 others(38): Show c.2418+1653_2418+1671dupTTTTTTTTTTTTTTTTTTT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE9A_chr21_42648621_42780509	42653533	G G	GGGGGGAG others(12): Show GGGGGGAGGGGGGAGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03225.hp1 HG03209.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0177 a0001c0002t0001g0181 a0001c0001t0001g0177 a0001c0002t0001g0181	2	324	0.0062	19	c.-28 others(28): Show c.-282_-281insGGGGGAGGGGGGAGGGGGA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		87		chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	324	0.0031	19	c.263 others(36): Show c.263-5145_263-5144insATATATTTTTTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDF_chr16_69321913_69335588	69324706	A A	ACCCAGAC others(12): Show ACCCAGACCTCCAGACAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0003 a0002c0002t0003g0003	1	364	0.0028	19	c.42 others(30): Show c.4297_*4315dupGGCTGTCTGGAGGTCTGGG	PDF	ENSG00000258429.2	transcript	ENST00000288022.2	protein_coding		2206		chr16	TogoVar
PDGFA_chr7_492258_524846	523569	A A	AGCCGTCA others(12): Show AGCCGTCACTGCACACAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0078 a0001c0002t0078	a0001c0002t0078g0041 a0001c0002t0078g0041	1	302	0.0033	19	c.-45 others(30): Show c.-4569_-4568insAGCTGTGTGCAGTGACGGC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding		3724		chr7	TogoVar
PDGFB_chr22_39218359_39249982	39228893	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	386	0.0026	19	c.601 others(36): Show c.601+1190_601+1191insATATATATATTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding	5/6			chr22	TogoVar
PDGFC_chr4_156755454_156976799	156891703	A A	ACTGTAAG others(12): Show ACTGTAAGTACAGTGTTCAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp2 HG01069.hp2 others(70): Show HG00438.hp2 HG00639.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01358.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG02015.hp2 HG02040.hp1 HG02080.hp2 HG02129.hp2 HG02155.hp2 HG02280.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03098.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18942.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18961.hp1 NA18964.hp2 NA18972.hp1 NA18977.hp1 NA18980.hp2 NA18985.hp1 NA18989.hp1 NA18998.hp1 NA18998.hp2 NA19002.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp2 NA19079.hp2 NA19084.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0022 a0001c0001t0024 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0025 a0001c0002t0026 a0002c0004t0015	a0001c0001t0001g0072 a0001c0001t0001g0108 a0001c0001t0001g0109 others(70): Show a0001c0001t0001g0072 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0120 a0001c0001t0002g0005 a0001c0001t0002g0020 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0060 a0001c0001t0002g0094 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0135 a0001c0001t0002g0142 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0178 a0001c0001t0004g0089 a0001c0001t0005g0048 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0006g0024 a0001c0001t0006g0033 a0001c0001t0006g0039 a0001c0001t0006g0116 a0001c0001t0006g0156 a0001c0001t0008g0163 a0001c0001t0022g0057 a0001c0001t0024g0012 a0001c0002t0002g0028 a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0040 a0001c0002t0002g0046 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0055 a0001c0002t0002g0061 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0071 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0086 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0100 a0001c0002t0002g0139 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0164 a0001c0002t0002g0167 a0001c0002t0005g0062 a0001c0002t0005g0063 a0001c0002t0005g0070 a0001c0002t0005g0122 a0001c0002t0006g0038 a0001c0002t0006g0082 a0001c0002t0025g0081 a0001c0002t0026g0158 a0002c0004t0015g0179	73	208	0.3510	19	c.119 others(38): Show c.119-41288_119-41287insGTGAACACTGTACTTACAG	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFD_chr11_103902189_104169147	104082137	C C	CATTATAT others(12): Show CATTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0111	1	200	0.0050	19	c.124 others(38): Show c.124+81666_124+81667insATATATATATATATATAAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRA_chr4_54224293_54303245	54277120	C C	CGCTCACA others(12): Show CGCTCACACCAGGGAGGGCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0112 a0001c0007t0008g0112	1	300	0.0033	19	c.178 others(36): Show c.1787-265_1787-247dupTCACACCAGGGAGGGCTGC	PDGFRA	ENSG00000134853.12	transcript	ENST00000257290.10	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDGFRL_chr8_17572216_17648144	17577082	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 NA20129.hp1 HG02572.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0051 a0001c0004t0001g0366 a0001c0001t0001g0051 a0001c0004t0001g0366	2	400	0.0050	19	c.-17 others(28): Show c.-171_-170insAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding		133		chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(12): Show TCCCCGCCCCCCCCCCACCC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	400	0.0025	19	c.940 others(34): Show c.940-710_940-709insCCCCCCCCACCCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(12): Show TCCCCGCCCCCCCCCCCACC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01074.hp1 others(25): Show HG00642.hp2 HG00735.hp1 HG01074.hp1 HG01169.hp2 HG01243.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02135.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp1 HG02622.hp2 HG02895.hp1 HG02970.hp2 HG03098.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG04115.hp1 NA18906.hp2 NA18951.hp1 NA18963.hp2 NA18979.hp2 NA18993.hp1 NA19078.hp1 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0014 others(1): Show a0001c0001 a0001c0002 a0001c0014 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 a0001c0014t0001 a0002c0003t0001	a0001c0001t0001g0020 a0001c0001t0001g0078 a0001c0001t0001g0083 others(25): Show a0001c0001t0001g0020 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0196 a0001c0001t0001g0238 a0001c0001t0001g0248 a0001c0001t0001g0265 a0001c0001t0001g0337 a0001c0001t0001g0398 a0001c0001t0002g0096 a0001c0001t0002g0152 a0001c0002t0001g0015 a0001c0002t0001g0061 a0001c0002t0001g0101 a0001c0002t0001g0139 a0001c0002t0001g0198 a0001c0002t0001g0212 a0001c0002t0001g0251 a0001c0002t0001g0258 a0001c0002t0001g0291 a0001c0002t0001g0318 a0001c0002t0001g0320 a0001c0002t0001g0323 a0001c0002t0001g0327 a0001c0002t0001g0397 a0001c0002t0006g0165 a0001c0014t0001g0021 a0002c0003t0001g0276	28	400	0.0700	19	c.940 others(34): Show c.940-710_940-709insCCCCCCCCCACCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(12): Show TCCCCGCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0297 a0002c0003t0001g0297	1	400	0.0025	19	c.940 others(34): Show c.940-710_940-709insCCCCCCCCCCCCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(12): Show TCCCCGCCCCCCCTCCCACC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	400	0.0025	19	c.940 others(34): Show c.940-710_940-709insCCCCCTCCCACCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDHA1_chrX_19338927_19366718	19358828	A A	ATCCAACC others(12): Show ATCCAACCCCATATCATGTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG02723.hp2 others(2): Show HG01884.hp2 HG02559.hp1 HG02723.hp2 HG03098.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010	a0001c0002t0001g0138 a0001c0002t0002g0062 a0001c0002t0002g0063 others(1): Show a0001c0002t0001g0138 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0010g0017	5	247	0.0202	19	c.900 others(32): Show c.900-85_900-67dupCAACCCCATATCATGTTTC	PDHA1	ENSG00000131828.14	transcript	ENST00000422285.7	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PDHA1_chrX_19338927_19366718	19364973	G G	GCGGGAGG others(12): Show GCGGGAGGATCACCTGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0011 a0001c0002t0004g0011	1	247	0.0041	19	c.53 others(30): Show c.5320_*5321insCGGGAGGATCACCTGAGGT	PDHA1	ENSG00000131828.14	transcript	ENST00000422285.7	protein_coding		3256		chrX	TogoVar
PDHX_chr11_34911618_35001128	34926749	G G	GAAGTATG others(12): Show GAAGTATGAGCATTTTGTTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02083.hp1 HG02723.hp2 others(8): Show HG01891.hp2 HG02083.hp1 HG02723.hp2 HG03017.hp1 HG03490.hp2 HG03516.hp2 HG03688.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0130 a0001c0002t0002g0131 others(7): Show a0001c0002t0002g0017 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0193	11	314	0.0350	19	c.161 others(36): Show c.161-4654_161-4636dupAAGTATGAGCATTTTGTTC	PDHX	ENSG00000110435.13	transcript	ENST00000227868.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDIA4_chr7_148998062_149033505	149025085	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp2 HG02257.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	2	352	0.0057	19	c.88+ others(34): Show c.88+3235_88+3236insATATATATATATATATATT	PDIA4	ENSG00000155660.11	transcript	ENST00000652332.1	protein_coding	1/9			chr7	TogoVar
PDIA5_chr3_123062025_123167104	123117374	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	332	0.0030	19	c.609 others(36): Show c.609+1076_609+1077insATATATATATATATATATA	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16			chr3	TogoVar
PDK1_chr2_172551090_172613669	172583281	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03130.hp1 HG02572.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0083 a0001c0001t0082 a0001c0001t0083	a0001c0001t0082g0269 a0001c0001t0083g0266 a0001c0001t0082g0269 a0001c0001t0083g0266	2	342	0.0059	19	c.946 others(36): Show c.946-2984_946-2966dupTTTTTTTTTTTTTTTTTTT	PDK1	ENSG00000152256.14	transcript	ENST00000282077.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
PDK3_chrX_24460286_24539422	24496568	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp2 HG02886.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0062 a0001c0001t0003g0036 a0001c0001t0002g0062 a0001c0001t0003g0036	2	258	0.0078	19	c.248 others(36): Show c.248+1690_248+1708dupTTTTTTTTTTTTTTTTTTT	PDK3	ENSG00000067992.17	transcript	ENST00000379162.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PDLIM1_chr10_95232572_95296003	95239017	G G	GACACATA others(12): Show GACACATAGACCAATGGAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(87): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02071.hp1 HG02083.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02965.hp1 HG02965.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp2 NA18522.hp1 NA18948.hp1 NA18949.hp2 NA18966.hp2 NA18971.hp2 NA18980.hp1 NA18982.hp2 NA18985.hp2 NA18989.hp2 NA18998.hp1 NA19003.hp2 NA19007.hp1 NA19012.hp1 NA19054.hp1 NA19062.hp1 NA19065.hp2 NA19075.hp1 NA19076.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0005c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0002t0002 a0001c0002t0006 a0002c0003t0001 a0002c0004t0002 a0005c0007t0004	a0001c0001t0001g0248 a0001c0001t0004g0002 a0001c0001t0004g0007 others(81): Show a0001c0001t0001g0248 a0001c0001t0004g0002 a0001c0001t0004g0007 a0001c0001t0004g0015 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0037 a0001c0001t0004g0058 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0069 a0001c0001t0004g0091 a0001c0001t0004g0119 a0001c0001t0004g0122 a0001c0001t0004g0131 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0195 a0001c0001t0004g0218 a0001c0001t0004g0221 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0012g0326 a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0016 a0001c0002t0002g0047 a0001c0002t0002g0053 a0001c0002t0002g0056 a0001c0002t0002g0068 a0001c0002t0002g0083 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0116 a0001c0002t0002g0120 a0001c0002t0002g0135 a0001c0002t0002g0143 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0165 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0192 a0001c0002t0002g0210 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0247 a0001c0002t0002g0251 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0261 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0276 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0299 a0001c0002t0002g0303 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0006g0112 a0001c0002t0006g0185 a0001c0002t0006g0260 a0002c0003t0001g0204 a0002c0004t0002g0113 a0005c0007t0004g0186	90	338	0.2663	19	c.686 others(34): Show c.686-333_686-332insGTTCCATTGGTCTATGTGT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	5/6			chr10	TogoVar
PDLIM1_chr10_95232572_95296003	95256986	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	338	0.0030	19	c.533 others(36): Show c.533+6877_533+6878insCTTTCTTTCTTTCTTTCTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM2_chr8_22575475_22599298	22592077	C C	CTTTTCTT others(12): Show CTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	380	0.0026	19	c.881 others(34): Show c.881+413_881+414insCTTTTCTTTTCTTTTTTTT	PDLIM2	ENSG00000120913.24	transcript	ENST00000409417.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDLIM3_chr4_185495660_185540507	185497978	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0302 a0001c0002t0020g0302	1	412	0.0024	19	c.43 others(30): Show c.4315_*4316insTTTTTTTTTTTTTTTTTTT	PDLIM3	ENSG00000154553.17	transcript	ENST00000284767.12	protein_coding		2681		chr4	TogoVar
PDLIM3_chr4_185495660_185540507	185537939	G G	GGGGCAAT others(12): Show GGGGCAATGAGGATGGAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	412	0.0024	19	c.-25 others(30): Show c.-2506_-2505insTGCTCCATCCTCATTGCCC	PDLIM3	ENSG00000154553.17	transcript	ENST00000284767.12	protein_coding		2433		chr4	TogoVar
PDLIM5_chr4_94446942_94673223	94494432	G G	GGTTTTTT others(12): Show GGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0138 a0001c0002t0002g0138	1	218	0.0046	19	c.97- others(36): Show c.97-29292_97-29291insGTTTTTTTTTTTTTTTTTT	PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	2/12			chr4	TogoVar
PDLIM5_chr4_94446942_94673223	94620971	T T	TGAGGCAG others(12): Show TGAGGCAGGAGAATCGCTTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01243.hp1 others(17): Show HG01167.hp2 HG01169.hp1 HG01243.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02886.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03516.hp2 HG03540.hp1 NA18522.hp1 NA19240.hp2 NA20805.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0009c0015	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0002t0005 a0003c0004t0001 a0009c0015t0028	a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 others(17): Show a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0172 a0001c0001t0005g0189 a0001c0001t0005g0198 a0001c0001t0007g0104 a0001c0001t0007g0105 a0001c0001t0007g0106 a0001c0001t0007g0108 a0001c0001t0007g0109 a0001c0001t0007g0110 a0001c0001t0009g0103 a0001c0002t0005g0187 a0001c0002t0005g0188 a0003c0004t0001g0107 a0009c0015t0028g0004	20	218	0.0917	19	c.110 others(38): Show c.1108+2794_1108+2795insGCTTGGAGGCAGGAGAATC	PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDLIM7_chr5_177478394_177502604	177497008	G G	GGGGAGGG others(12): Show GGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0208	1	440	0.0023	19	c.-11 others(34): Show c.-11-486_-11-485insTCCCCTCCCCTCCCCTCCC	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	1/12			chr5	TogoVar
PDPK1_chr16_2533021_2608188	2533430	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01175.hp2 HG01261.hp1 others(7): Show HG00544.hp2 HG01175.hp2 HG01261.hp1 HG01496.hp2 HG01943.hp1 HG01993.hp1 HG02135.hp2 HG03098.hp1 HG04204.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0012 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0014 a0001c0001t0023 a0001c0006t0005	a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0057 others(7): Show a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0115 a0001c0001t0001g0131 a0001c0001t0001g0147 a0001c0001t0012g0133 a0001c0001t0014g0044 a0001c0001t0023g0146 a0001c0006t0005g0144	10	184	0.0544	19	c.-46 others(30): Show c.-4683_-4682insTTTTTTTTTTTTTTTTTTT	PDPK1	ENSG00000140992.19	transcript	ENST00000342085.9	protein_coding		4590		chr16	TogoVar
PDPK1_chr16_2533021_2608188	2533460	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	184	0.0054	19	c.-46 others(30): Show c.-4653_-4652insTTTTTTTTTTTTTTTTTTG	PDPK1	ENSG00000140992.19	transcript	ENST00000342085.9	protein_coding		4560		chr16	TogoVar

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Search Results (Total: 10000 hits)