Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PKN1_chr19_14428306_14476859	14465399	C C	CTCTTTTT others(27): Show CTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03225.hp2 NA18975.hp2 HG01358.hp2 HG03225.hp2 NA18975.hp2	a0003 a0004 a0003 a0004	a0003c0005 a0004c0032 a0003c0005 a0004c0032	a0003c0005t0001 a0004c0032t0001 a0003c0005t0001 a0004c0032t0001	a0003c0005t0001g0183 a0003c0005t0001g0206 a0004c0032t0001g0297 a0003c0005t0001g0183 a0003c0005t0001g0206 a0004c0032t0001g0297	3	376	0.0080	34	c.173 others(53): Show c.1731+1247_1731+1248insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	PKN1	ENSG00000123143.13	transcript	ENST00000242783.11	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
PKNOX1_chr21_42969562_43038931	42987404	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	362	0.0028	34	c.-57 others(53): Show c.-57+12741_-57+12742insAAAAAATATATATATATATATATATA TATATATA	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKNOX1_chr21_42969562_43038931	42987404	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0280 a0001c0001t0008g0280	1	362	0.0028	34	c.-57 others(53): Show c.-57+12741_-57+12742insAAAATATATATATATATATATATATA TATATATA	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKNOX2_chr11_125159751_125438389	125189413	A A	ATGTGTGT others(27): Show ATGTGTGTATATATATATGTGTGTATATATATGTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA19043.hp2 NA21309.hp1 HG02896.hp1 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0001 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0172 a0001c0001t0004g0171 a0001c0001t0008g0100 a0001c0001t0001g0172 a0001c0001t0004g0171 a0001c0001t0008g0100	3	222	0.0135	34	c.-20 others(55): Show c.-201+24644_-201+24645insATATATATATGTGTGTATATATAT GTGTGTGTGT	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLA2G4A_chr1_186823949_186993981	186857179	T T	TATAATAT others(27): Show TATAATATTATAATACATAATATTATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA20905.hp2 HG02602.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0005 a0001c0001t0001g0007	2	310	0.0065	34	c.33+ others(49): Show c.33+2792_33+2793insATAATATTATAATACATAATATTATATATA TATA	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	2/17			chr1	TogoVar
PLA2G4A_chr1_186823949_186993981	186912706	T T	TCATATAT others(27): Show TCATATATATGTATATTTATATATACATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG00609.hp2 others(53): Show HG00280.hp2 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG01070.hp2 HG01099.hp2 HG01109.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01496.hp2 HG01891.hp2 HG02015.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03654.hp1 HG03688.hp2 HG03831.hp1 HG04184.hp1 HG04184.hp2 HG06807.hp1 NA18747.hp1 NA18941.hp1 NA18946.hp2 NA18951.hp2 NA18962.hp1 NA18977.hp2 NA19001.hp1 NA19003.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19063.hp2 NA19081.hp2 NA19085.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0004 a0001c0013 others(2): Show a0001c0001 a0001c0004 a0001c0013 a0004c0016 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0013t0001 a0004c0016t0001 a0007c0007t0001	a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0020 others(53): Show a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0236 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0273 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0002g0103 a0001c0001t0002g0122 a0001c0001t0002g0231 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0256 a0001c0004t0001g0047 a0001c0013t0001g0237 a0004c0016t0001g0027 a0007c0007t0001g0090	56	310	0.1807	34	c.558 others(51): Show c.558+1333_558+1366dupTTATATATACATATATATACATATATAT GTATAT	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G4C_chr19_48042846_48115817	48055389	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03195.hp1 HG03486.hp2 HG01433.hp2 HG03195.hp1 HG03486.hp2	a0003 a0008 a0013 a0003 a0008 a0013	a0003c0008 a0008c0010 a0013c0050 a0003c0008 a0008c0010 a0013c0050	a0003c0008t0002 a0008c0010t0001 a0013c0050t0002 a0003c0008t0002 a0008c0010t0001 a0013c0050t0002	a0003c0008t0002g0199 a0008c0010t0001g0122 a0013c0050t0002g0197 a0003c0008t0002g0199 a0008c0010t0001g0122 a0013c0050t0002g0197	3	322	0.0093	34	c.125 others(51): Show c.1258-341_1258-340insTATATATATATATATATATATATATATA TATATA	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	14/16			chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105945	C C	CCTCCTTC others(27): Show CCTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0069 a0003c0008t0001g0069	1	322	0.0031	34	c.9-5 others(45): Show c.9-502_9-501insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16			chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105960	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0113 a0001c0001t0010g0113	1	322	0.0031	34	c.8+5 others(45): Show c.8+528_9-517dupGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16			chr19	TogoVar
PLAAT3_chr11_63569462_63619433	63615022	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	352	0.0028	34	c.-69 others(43): Show c.-693_-692insCATATATATATATATATATATATATATATATATA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		590		chr11	TogoVar
PLAAT5_chr11_63456404_63496167	63483803	A A	ATGTATAT others(27): Show ATGTATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0091 a0002c0004t0008g0091	1	358	0.0028	34	c.345 others(51): Show c.345+5067_345+5068insCATATATATATATATATATATATATATA TATACA	PLAAT5	ENSG00000168004.10	transcript	ENST00000540857.6	protein_coding	3/5			chr11	TogoVar
PLAGL1_chr6_143935300_144013259	143985982	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	394	0.0025	34	c.-58 others(51): Show c.-583-809_-583-808insTATATATATATATATATATATATATATA TATATA	PLAGL1	ENSG00000118495.21	transcript	ENST00000674357.1	protein_coding	1/7			chr6	TogoVar
PLAT_chr8_42169718_42212565	42203992	T T	TATATATA others(27): Show TATATATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03471.hp1 HG02559.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0004 a0001c0001t0001 a0001c0005t0004	a0001c0001t0001g0323 a0001c0005t0004g0324 a0001c0001t0001g0323 a0001c0005t0004g0324	2	378	0.0053	34	c.-27 others(51): Show c.-27+3501_-27+3502insGTGTGTGTGTGTGTATATATATATATAT ATATAT	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar
PLAT_chr8_42169718_42212565	42203992	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0312 a0001c0002t0001g0312	1	378	0.0027	34	c.-27 others(51): Show c.-27+3501_-27+3502insGTGTATATATATATATATATATATATAT ATATAT	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar
PLAT_chr8_42169718_42212565	42203992	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0309 a0001c0002t0001g0309	1	378	0.0027	34	c.-27 others(51): Show c.-27+3501_-27+3502insGTATATATATATATATATATATATATAT ATATAT	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar
PLB1_chr2_28491060_28649142	28511788	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA20129.hp1 HG02809.hp2 NA20129.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0007 a0003c0003 a0004c0007	a0003c0003t0001 a0004c0007t0001 a0003c0003t0001 a0004c0007t0001	a0003c0003t0001g0068 a0004c0007t0001g0069 a0003c0003t0001g0068 a0004c0007t0001g0069	2	266	0.0075	34	c.56- others(49): Show c.56-5006_56-5005insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PLB1	ENSG00000163803.13	transcript	ENST00000327757.10	protein_coding	1/57		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLB1_chr2_28491060_28649142	28646123	C C	CCTACACA others(27): Show CCTACACAATGACCATCATAACCAGTATAGAGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0196 a0002c0001t0002g0196	1	266	0.0038	34	c.30 others(45): Show c.3062_*3063insCTACACAATGACCATCATAACCAGTATAGAGCCA	PLB1	ENSG00000163803.13	transcript	ENST00000327757.10	protein_coding		1982		chr2	TogoVar
PLCB1_chr20_8127266_8889900	8523490	C C	CCATATAT others(27): Show CCATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp2 HG03130.hp2 others(1): Show HG01261.hp1 HG01261.hp2 HG03130.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0023	a0001c0001t0003 a0001c0002t0005 a0001c0003t0003 others(1): Show a0001c0001t0003 a0001c0002t0005 a0001c0003t0003 a0001c0023t0003	a0001c0001t0003g0088 a0001c0002t0005g0056 a0001c0003t0003g0045 others(1): Show a0001c0001t0003g0088 a0001c0002t0005g0056 a0001c0003t0003g0045 a0001c0023t0003g0106	4	106	0.0377	34	c.247 others(55): Show c.247-104804_247-104803insCATATATATATATATATATATATA TATATATATA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31			chr20	TogoVar
PLCB1_chr20_8127266_8889900	8523496	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0042 a0001c0004t0021g0042	1	106	0.0094	34	c.247 others(55): Show c.247-104797_247-104796insCTCTCTCTCTCTCTCTCTATATAT ATATATATAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8523496	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18906.hp1 HG02258.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0006 a0001c0007t0007 a0001c0001t0006 a0001c0007t0007	a0001c0001t0006g0028 a0001c0007t0007g0014 a0001c0001t0006g0028 a0001c0007t0007g0014	2	106	0.0189	34	c.247 others(55): Show c.247-104797_247-104796insCTCTCTCTCTCTCTCTCTCTCTAT ATATATATAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCD4_chr2_218602899_218642175	218616898	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0275 a0001c0001t0003g0275	1	298	0.0034	34	c.181 others(49): Show c.181+866_181+867insTATATATATATATATATATATATATATATA TATA	PLCD4	ENSG00000115556.14	transcript	ENST00000450993.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCD4_chr2_218602899_218642175	218616927	T T	TATATATA others(27): Show TATATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0260 a0001c0001t0005g0260	1	298	0.0034	34	c.181 others(49): Show c.181+866_181+867insTATATATATATATATAGAGAGAGAGAGAGA GAGA	PLCD4	ENSG00000115556.14	transcript	ENST00000450993.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCD4_chr2_218602899_218642175	218616927	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	298	0.0034	34	c.181 others(49): Show c.181+866_181+867insTATATATATATATATATATATATATATAGA GAGA	PLCD4	ENSG00000115556.14	transcript	ENST00000450993.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCL1_chr2_197799593_198154863	197866074	A A	ATATATAT others(27): Show ATATATATATATATAAACTATATATATATATAAAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01258.hp1 HG01516.hp1 others(1): Show HG01192.hp1 HG01258.hp1 HG01516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0017 a0001c0001t0022 others(1): Show a0001c0001t0007 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023	a0001c0001t0007g0162 a0001c0001t0017g0179 a0001c0001t0022g0176 others(1): Show a0001c0001t0007g0162 a0001c0001t0017g0179 a0001c0001t0022g0176 a0001c0001t0023g0165	4	204	0.0196	34	c.240 others(53): Show c.240+60835_240+60868dupAACTATATATATATATAAACTATATA TATATATA	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCL2_chr3_16879955_17095604	16895061	C C	CGTATCTA others(27): Show CGTATCTATATAGATATAGATATATGTTGAAACAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0104 a0001c0014t0001g0104	1	250	0.0040	34	c.327 others(51): Show c.327+9706_327+9739dupAGATATAGATATATGTTGAAACATGTAT CTATAT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	16895072	A A	AGATATAG others(27): Show AGATATAGATATATGTTGAAACATGTATCTATATC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03704.hp2 NA18966.hp1 HG01934.hp1 HG03704.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0002 a0001c0001t0001 a0001c0003t0001 a0001c0004t0002	a0001c0001t0001g0243 a0001c0003t0001g0094 a0001c0004t0002g0175 a0001c0001t0001g0243 a0001c0003t0001g0094 a0001c0004t0002g0175	3	250	0.0120	34	c.327 others(51): Show c.327+9761_327+9794dupCATGTATCTATATCGATATAGATATATG TTGAAA	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCZ1_chr12_18678180_18743012	18696322	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	326	0.0031	34	c.117 others(49): Show c.1175-57_1175-56insTATATATATATATATATATATATATATATA TATA	PLCZ1	ENSG00000139151.16	transcript	ENST00000266505.12	protein_coding	10/14			chr12	TogoVar
PLD1_chr3_171595404_171815483	171764930	A A	AAAGAAAG others(27): Show AAAGAAAGAAAGAAAGAAAGAAAGAAGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0013 a0013c0020t0013	a0013c0020t0013g0058 a0013c0020t0013g0058	1	294	0.0034	34	c.-31 others(53): Show c.-31-26849_-31-26848insCCTTCCTTCTTCTTTCTTTCTTTCTT TCTTTCTT	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD4_chr14_104919879_104938236	104933706	G G	GGGGAGGG others(27): Show GGGGAGGGTGGGAGGGGAGCGGGGCTGAGGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00597.hp1 others(116): Show HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01099.hp2 HG01175.hp2 HG01261.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18959.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18991.hp2 NA18999.hp2 NA19001.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19058.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19072.hp1 NA19074.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19087.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0008	a0001c0001 a0002c0002 a0005c0005 others(2): Show a0001c0001 a0002c0002 a0005c0005 a0006c0006 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0005c0005t0001 a0006c0006t0001 a0008c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0002g0018 a0001c0001t0005g0004 a0002c0002t0001g0022 a0002c0002t0001g0023 a0005c0005t0001g0006 a0006c0006t0001g0002 a0008c0012t0001g0002	119	426	0.2793	34	c.74 others(43): Show c.742_*743insGGGAGGGTGGGAGGGGAGCGGGGCTGAGGGGACC	PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding		471		chr14	TogoVar
PLD5_chr1_242077986_242529697	242112331	G G	GTAAGTAT others(27): Show GTAAGTATATGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0154 a0001c0002t0003g0154	1	188	0.0053	34	c.107 others(53): Show c.1070+1558_1070+1559insTATATATATATATATATACACACACA TATACTTA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	7/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242207902	A A	ATATTTTT others(27): Show ATATTTTTATATATATTTATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00558.hp2 others(44): Show HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00735.hp2 HG01071.hp2 HG01109.hp2 HG01175.hp2 HG01243.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02071.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02735.hp1 HG02896.hp1 HG03017.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp1 NA18942.hp2 NA18944.hp1 NA18950.hp1 NA18965.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18989.hp1 NA18989.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0031 a0001c0001t0035 a0001c0001t0037 a0001c0001t0055 a0001c0001t0056 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0013 a0001c0002t0022 a0001c0002t0023 a0001c0002t0045 a0001c0002t0059 a0001c0002t0069 a0001c0002t0075 a0002c0003t0001 a0002c0003t0005 a0002c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0022 others(44): Show a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0062 a0001c0001t0002g0074 a0001c0001t0002g0088 a0001c0001t0002g0100 a0001c0001t0004g0056 a0001c0001t0004g0073 a0001c0001t0004g0082 a0001c0001t0004g0093 a0001c0001t0015g0036 a0001c0001t0016g0052 a0001c0001t0016g0053 a0001c0001t0017g0089 a0001c0001t0017g0105 a0001c0001t0018g0015 a0001c0001t0020g0029 a0001c0001t0020g0097 a0001c0001t0031g0018 a0001c0001t0035g0066 a0001c0001t0037g0102 a0001c0001t0055g0123 a0001c0001t0056g0125 a0001c0002t0002g0107 a0001c0002t0003g0147 a0001c0002t0012g0178 a0001c0002t0013g0172 a0001c0002t0022g0148 a0001c0002t0023g0131 a0001c0002t0045g0111 a0001c0002t0059g0130 a0001c0002t0069g0156 a0001c0002t0075g0166 a0002c0003t0001g0095 a0002c0003t0005g0051 a0002c0005t0001g0110	47	188	0.2500	34	c.735 others(53): Show c.735+12085_735+12086insAATATATATAAATATATAAATATATA TAAAAATA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	5/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242207932	T T	TTTTATAT others(27): Show TTTTATATATATTTATATATTTATATATATTTTTA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	188	0.0053	34	c.735 others(53): Show c.735+12055_735+12056insTAAAAATATATATAAATATATAAATA TATATAAA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	5/9			chr1	TogoVar
PLEKHA5_chr12_19124733_19381400	19253064	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA18947.hp2 HG01257.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0168 a0001c0001t0002g0070 a0001c0001t0001g0168 a0001c0001t0002g0070	2	316	0.0063	34	c.228 others(49): Show c.228-850_228-849insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA5_chr12_19124733_19381400	19334829	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0171 a0001c0001t0004g0171	1	316	0.0032	34	c.244 others(53): Show c.2449-1685_2449-1684insAAAAAAAAAAAAAAAAAATATATATA TATATATA	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	20/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA8_chr7_30023412_30089650	30073563	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0013 a0001c0002t0006g0013	1	234	0.0043	34	c.130 others(51): Show c.1301-482_1301-481insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	PLEKHA8	ENSG00000106086.21	transcript	ENST00000449726.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
PLEKHG1_chr6_150594885_150848665	150804175	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03669.hp2 HG02056.hp2 HG03669.hp2	a0001 a0001	a0001c0006 a0001c0012 a0001c0006 a0001c0012	a0001c0006t0008 a0001c0012t0014 a0001c0006t0008 a0001c0012t0014	a0001c0006t0008g0175 a0001c0012t0014g0120 a0001c0006t0008g0175 a0001c0012t0014g0120	2	272	0.0074	34	c.781 others(49): Show c.781-434_781-433insATATATATATATATATATATATATATATAT ATTT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG3_chr14_64699424_64755249	64751927	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG06807.hp2 HG01361.hp1 HG06807.hp2	a0002 a0007 a0002 a0007	a0002c0004 a0007c0012 a0002c0004 a0007c0012	a0002c0004t0007 a0007c0012t0057 a0002c0004t0007 a0007c0012t0057	a0002c0004t0007g0024 a0007c0012t0057g0031 a0002c0004t0007g0024 a0007c0012t0057g0031	2	248	0.0081	34	c.82 others(45): Show c.8224_*8225insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PLEKHG3	ENSG00000126822.18	transcript	ENST00000247226.13	protein_coding		1679		chr14	TogoVar
PLEKHG4B_chr5_87168_194966	133953	G G	GTGGAATA others(27): Show GTGGAATATATATATATGAGATGGACTATATATGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0074 a0003c0017t0074	a0003c0017t0074g0050 a0003c0017t0074g0050	1	210	0.0048	34	c.244 others(51): Show c.244-5502_244-5469dupTATATGATGGAATATATATATATGAGAT GGACTA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0022 a0022	a0022c0056 a0022c0056	a0022c0056t0003 a0022c0056t0003	a0022c0056t0003g0245 a0022c0056t0003g0245	1	256	0.0039	34	c.-81 others(43): Show c.-815_-814insTATATATATATATATATATATATATATTTTTTTT	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		691		chr2	TogoVar
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG02809.hp1 HG00323.hp1 HG02809.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0022 a0001c0002 a0003c0022	a0001c0002t0001 a0003c0022t0002 a0001c0002t0001 a0003c0022t0002	a0001c0002t0001g0242 a0003c0022t0002g0140 a0001c0002t0001g0242 a0003c0022t0002g0140	2	256	0.0078	34	c.-81 others(43): Show c.-815_-814insTATATATATATATATATATATTTTTTTTTTTTTT	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		691		chr2	TogoVar
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0141 a0003c0004t0002g0141	1	256	0.0039	34	c.-81 others(43): Show c.-815_-814insTATATATATATATATATATTTTTTTTTTTTTTTT	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		691		chr2	TogoVar
PLEKHJ1_chr19_2228153_2241329	2232738	T T	TGGGGAGG others(27): Show TGGGGAGGCTTATGAGGGCACCAGGCCACAGGCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0024	34	c.10 others(45): Show c.1068_*1101dupTTGCCTGTGGCCTGGTGCCCTCATAAGCCTCCCC	PLEKHJ1	ENSG00000104886.12	transcript	ENST00000326631.7	protein_coding		414		chr19	TogoVar
PLEKHM2_chr1_15679320_15739769	15686648	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0027 a0002c0002t0012g0027	1	336	0.0030	34	c.60+ others(49): Show c.60+2048_60+2049insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PLEKHM2	ENSG00000116786.13	transcript	ENST00000375799.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLEKHM3_chr2_207816288_208030527	207865801	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	200	0.0050	34	c.195 others(53): Show c.1951-4540_1951-4539insATATATATATATATATATATATTTTT TTTTTTTT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	6/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207865801	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	200	0.0050	34	c.195 others(53): Show c.1951-4540_1951-4539insATATATATATATATATATATATATAT TTTTTTTT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	6/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207923880	C C	CACACACA others(27): Show CACACACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	200	0.0050	34	c.188 others(53): Show c.1886+7045_1886+7046insATATATATATATATATATATATATAT ATGTGTGT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	5/7			chr2	TogoVar
PLEKHN1_chr1_961482_980865	977720	C C	CACTCCCC others(27): Show CACTCCCCGCGCAACCCCGGGAACCGCCTCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0017 a0017	a0017c0043 a0017c0043	a0017c0043t0016 a0017c0043t0016	a0017c0043t0016g0100 a0017c0043t0016g0100	1	422	0.0024	34	c.31 others(45): Show c.3145_*3146insACTCCCCGCGCAACCCCGGGAACCGCCTCCCACT	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1856		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977786	C C	CCCACCAA others(27): Show CCCACCAACCCGGGAACCGCCTCCCACTCCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01070.hp1 HG01109.hp2 others(2): Show HG00609.hp1 HG01070.hp1 HG01109.hp2 NA19003.hp1 NA19012.hp2	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0001 a0003c0003 a0013c0039 a0001c0001 a0003c0003 a0013c0039	a0001c0001t0001 a0003c0003t0001 a0013c0039t0001 a0001c0001t0001 a0003c0003t0001 a0013c0039t0001	a0001c0001t0001g0001 a0001c0001t0001g0133 a0003c0003t0001g0008 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0133 a0003c0003t0001g0008 a0013c0039t0001g0001	5	422	0.0119	34	c.32 others(45): Show c.3211_*3212insCCACCAACCCGGGAACCGCCTCCCACTCCCCCCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1922		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977809	A A	ACCACCCC others(27): Show ACCACCCCGCCAACCCCGGGAACCGCCTCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0010 a0010	a0010c0037 a0010c0037	a0010c0037t0004 a0010c0037t0004	a0010c0037t0004g0096 a0010c0037t0004g0096	1	422	0.0024	34	c.32 others(45): Show c.3234_*3235insCCACCCCGCCAACCCCGGGAACCGCCTCCCACTC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1945		chr1	TogoVar
PLEK_chr2_68360282_68402453	68392162	T T	TCTCCTCC others(27): Show TCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG02647.hp2 others(12): Show HG02257.hp2 HG02572.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0023 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0084 a0001c0001t0001g0085	15	374	0.0401	34	c.763 others(49): Show c.763-987_763-954dupCTTCTTCTTCTTCTTCTTTCTCCTCCTCCT CCTC	PLEK	ENSG00000115956.10	transcript	ENST00000234313.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 7994 hits)