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
POLD4_chr11_67345772_67358546	67347628	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA20300.hp1 NA18952.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0006g0007 a0001c0001t0001g0001 a0001c0001t0006g0007	2	314	0.0064	-23	c.43 others(34): Show c.4344_*4366delATATATATATATATATATTTTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3143		chr11	TogoVar
POLD4_chr11_67345772_67358546	67347630	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	314	0.0032	-23	c.43 others(34): Show c.4342_*4364delATATATATATATATATATATTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3141		chr11	TogoVar
POLE4_chr2_74953643_74975128	74972535	ATCAGGGA others(16): Show ATCAGGGATATTGGTCTAAAATTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA19011.hp1 NA19012.hp1 NA18956.hp2 NA19011.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	3	476	0.0063	-23	c.31 others(34): Show c.3114_*3136delTCAGGGATATTGGTCTAAAATTC	POLE4	ENSG00000115350.12	transcript	ENST00000483063.2	protein_coding		2408		chr2	TogoVar
POLI_chr18_54264517_54303234	54293438	AAACCTCT others(16): Show AAACCTCTTCCTGGAATAGTGGGT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18906.hp1 HG03195.hp2 NA18906.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0019 a0001c0001 a0012c0019	a0001c0001t0033 a0012c0019t0029 a0001c0001t0033 a0012c0019t0029	a0001c0001t0033g0121 a0012c0019t0029g0122 a0001c0001t0033g0121 a0012c0019t0029g0122	2	338	0.0059	-23	c.140 others(40): Show c.1405-209_1405-187delACCTCTTCCTGGAATAGTGGGTA	POLI	ENSG00000101751.11	transcript	ENST00000579534.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
POLN_chr4_2066918_2247121	2159880	CATTCCAC others(16): Show CATTCCACCTTTGATGGATATGTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp1 HG02630.hp1 others(4): Show HG01109.hp1 HG02486.hp1 HG02630.hp1 HG02723.hp1 HG02896.hp1 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0006 others(4): Show a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010	7	194	0.0361	-23	c.155 others(40): Show c.1555-692_1555-670delCACATATCCATCAAAGGTGGAAT	POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	13/25			chr4	TogoVar
POLR2F_chr22_37948699_37974312	37951797	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp2 NA18985.hp1 others(2): Show NA18948.hp1 NA18948.hp2 NA18985.hp1 NA18998.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	5	404	0.0124	-23	c.-19 others(34): Show c.-1990_-1968delTTTTTTTTTTTTTTTTTTTTTTT	POLR2F	ENSG00000100142.16	transcript	ENST00000442738.7	protein_coding		1901		chr22	TogoVar
POLR2J_chr7_102468128_102483922	102474053	CAATCACC others(16): Show CAATCACCAACAAGGGACGTAGAA	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG06807.hp1 HG01975.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	2	410	0.0049	-23	c.318 others(38): Show c.318+285_318+307delTTCTACGTCCCTTGTTGGTGATT	POLR2J	ENSG00000005075.16	transcript	ENST00000292614.10	protein_coding	3/3			chr7	TogoVar
POLR3G_chr5_90469864_90519557	90493676	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp1 others(101): Show HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01243.hp1 HG01358.hp1 HG01433.hp1 HG01884.hp1 HG01928.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02970.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03834.hp1 HG04204.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18986.hp2 NA18994.hp2 NA18998.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19054.hp2 NA19055.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19076.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0033 a0001c0001t0037 a0002c0002t0006	a0001c0001t0001g0205 a0001c0001t0001g0256 a0001c0001t0001g0277 others(79): Show a0001c0001t0001g0205 a0001c0001t0001g0256 a0001c0001t0001g0277 a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0019 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0092 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0190 a0001c0001t0003g0243 a0001c0001t0004g0002 a0001c0001t0004g0086 a0001c0001t0004g0088 a0001c0001t0004g0218 a0001c0001t0004g0298 a0001c0001t0004g0302 a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0314 a0001c0001t0005g0162 a0001c0001t0006g0022 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0228 a0001c0001t0006g0232 a0001c0001t0006g0234 a0001c0001t0006g0237 a0001c0001t0006g0303 a0001c0001t0007g0103 a0001c0001t0007g0132 a0001c0001t0008g0166 a0001c0001t0008g0181 a0001c0001t0008g0192 a0001c0001t0008g0249 a0001c0001t0009g0013 a0001c0001t0009g0085 a0001c0001t0009g0089 a0001c0001t0009g0090 a0001c0001t0009g0091 a0001c0001t0009g0094 a0001c0001t0009g0095 a0001c0001t0009g0118 a0001c0001t0009g0219 a0001c0001t0010g0009 a0001c0001t0010g0021 a0001c0001t0010g0143 a0001c0001t0010g0225 a0001c0001t0010g0229 a0001c0001t0010g0241 a0001c0001t0010g0313 a0001c0001t0013g0042 a0001c0001t0013g0043 a0001c0001t0015g0164 a0001c0001t0016g0193 a0001c0001t0017g0183 a0001c0001t0017g0184 a0001c0001t0017g0185 a0001c0001t0022g0056 a0001c0001t0022g0296 a0001c0001t0024g0315 a0001c0001t0025g0101 a0001c0001t0026g0220 a0001c0001t0033g0001 a0001c0001t0037g0230 a0002c0002t0006g0239	104	366	0.2842	-23	c.248 others(40): Show c.248-1975_248-1953delTTTTTTTTTTTTTTTTTTTTTTT	POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLR3K_chr16_41407_58608	52446	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01517.hp1 HG02040.hp2 others(27): Show HG01192.hp1 HG01517.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02559.hp1 HG02698.hp2 HG02717.hp1 HG03130.hp1 HG03195.hp1 HG03486.hp2 NA18906.hp2 NA18953.hp1 NA18965.hp1 NA18968.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18983.hp2 NA18985.hp2 NA19006.hp1 NA19010.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016	a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0055 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0055 a0001c0001t0001g0171 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0006g0152 a0001c0001t0010g0014 a0001c0001t0010g0208 a0001c0001t0016g0142	30	432	0.0694	-23	c.112 others(38): Show c.112-824_112-802delTTTTTTTTTTTTTTTTTTTTTTT	POLR3K	ENSG00000161980.6	transcript	ENST00000293860.6	protein_coding	1/2			chr16	TogoVar
POP4_chr19_29601283_29622237	29601991	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01516.hp2 HG01517.hp2 others(16): Show HG01081.hp2 HG01516.hp2 HG01517.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02886.hp1 HG02897.hp2 HG02970.hp2 HG03017.hp1 HG03225.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03927.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0019 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0019 a0001c0001t0026 a0001c0001t0034	a0001c0001t0002g0022 a0001c0001t0002g0063 a0001c0001t0008g0017 others(9): Show a0001c0001t0002g0022 a0001c0001t0002g0063 a0001c0001t0008g0017 a0001c0001t0008g0037 a0001c0001t0008g0064 a0001c0001t0008g0065 a0001c0001t0008g0066 a0001c0001t0008g0067 a0001c0001t0008g0068 a0001c0001t0019g0039 a0001c0001t0026g0069 a0001c0001t0034g0075	19	462	0.0411	-23	c.-43 others(34): Show c.-4327_-4305delAAAAAAAAAAAAAAAAAAAAAAA	POP4	ENSG00000105171.10	transcript	ENST00000585603.6	protein_coding		4291		chr19	TogoVar
POR_chr7_75910155_75991855	75987793	GGAGAAAC others(16): Show GGAGAAACTGCACGAAGCCTGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0087 a0001c0003t0001g0087	1	278	0.0036	-23	c.13 others(34): Show c.1313_*1335delGAGAAACTGCACGAAGCCTGGGC	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		939		chr7	TogoVar
POTEB3_chr15_21400401_21445499	21404904	CTCTTTTT others(16): Show CTCTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 NA19043.hp1 HG03239.hp2 NA19043.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0010 a0002c0002 a0008c0010	a0002c0002t0030 a0008c0010t0016 a0002c0002t0030 a0008c0010t0016	a0002c0002t0030g0053 a0008c0010t0016g0008 a0002c0002t0030g0053 a0008c0010t0016g0008	2	54	0.0370	-23	c.40 others(34): Show c.4056_*4078delAAAAAAAAAAAAAAAAAAAAAGA	POTEB3	ENSG00000278522.5	transcript	ENST00000611217.5	protein_coding		496		chr15	TogoVar
POU2AF2_chr11_111240725_111291401	111264553	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0097 a0001c0001t0004g0097	1	380	0.0026	-23	c.120 others(40): Show c.120+8462_120+8484delAAGAAAGAAAGAAAGAAAGAAAG	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4			chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111268479	TTTATTTT others(16): Show TTTATTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0089 a0004c0005t0001g0089	1	380	0.0026	-23	c.120 others(42): Show c.120+12390_120+12412delATTTTATTTTATTTTATTTTATT	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2F1_chr1_167215886_167432340	167343632	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01081.hp2 HG01358.hp2 others(15): Show HG01069.hp2 HG01081.hp2 HG01358.hp2 HG01517.hp2 HG03130.hp2 HG03486.hp2 HG03704.hp1 NA18942.hp1 NA18965.hp2 NA18991.hp1 NA19056.hp1 NA19057.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19078.hp2 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0019 a0001c0001t0038 a0001c0002t0072	a0001c0001t0001g0144 a0001c0001t0001g0165 a0001c0001t0001g0169 others(15): Show a0001c0001t0001g0144 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0002g0038 a0001c0001t0003g0015 a0001c0001t0003g0124 a0001c0001t0004g0190 a0001c0001t0006g0053 a0001c0001t0008g0024 a0001c0001t0008g0261 a0001c0001t0008g0262 a0001c0001t0009g0014 a0001c0001t0011g0267 a0001c0001t0019g0260 a0001c0001t0019g0264 a0001c0001t0038g0259 a0001c0002t0072g0021	18	292	0.0616	-23	c.127 others(42): Show c.127+11129_127+11151delTTTTTTTTTTTTTTTTTTTTTTT	POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
POU2F2_chr19_42081110_42137446	42135917	GCCAAACT others(16): Show GCCAAACTGGTCTCGAACTCCTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	176	0.0057	-23	c.-35 others(34): Show c.-3529_-3507delTCAGGAGTTCGAGACCAGTTTGG	POU2F2	ENSG00000028277.22	transcript	ENST00000692977.1	protein_coding		3472		chr19	TogoVar
POU5F1B_chr8_127410867_127421946	127420935	TCAAGGTG others(16): Show TCAAGGTGACCATGTTCATCAGCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	440	0.0023	-23	c.39 others(34): Show c.3990_*4012delCAAGGTGACCATGTTCATCAGCA	POU5F1B	ENSG00000212993.6	transcript	ENST00000696633.1	protein_coding		3990		chr8	TogoVar
POU6F2_chr7_38972909_39473601	39412778	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	170	0.0059	-23	c.111 others(42): Show c.1113+6057_1113+6079delTTTTTTTTTTTTTTTTTTTTTTT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPA1_chr10_70197835_70238429	70220599	ATTTATAT others(16): Show ATTTATATATATATTATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	408	0.0025	-23	c.124 others(40): Show c.124-1805_124-1783delATTATATATAATATATATATAAA	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10			chr10	TogoVar
PPA2_chr4_105364077_105479062	105449216	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0223 a0002c0002t0001g0223	1	366	0.0027	-23	c.321 others(38): Show c.321+111_321+133delTTTTTTTTTTTTTTTTTTTTTTT	PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	4/11			chr4	TogoVar
PPARA_chr22_46145526_46248755	46154988	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02630.hp1 others(1): Show HG02145.hp2 HG02258.hp2 HG02630.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0029 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0029 a0001c0001t0078	a0001c0001t0002g0195 a0001c0001t0006g0197 a0001c0001t0029g0162 others(1): Show a0001c0001t0002g0195 a0001c0001t0006g0197 a0001c0001t0029g0162 a0001c0001t0078g0196	4	200	0.0200	-23	c.-12 others(42): Show c.-127+3035_-127+3057delAAAAAAAAAAAAAAAAAAAAAAA	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPARA_chr22_46145526_46248755	46185917	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02486.hp2 HG01243.hp1 HG02109.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0026 a0001c0001t0039 a0001c0001t0006 a0001c0001t0026 a0001c0001t0039	a0001c0001t0006g0143 a0001c0001t0026g0152 a0001c0001t0039g0041 a0001c0001t0006g0143 a0001c0001t0026g0152 a0001c0001t0039g0041	3	200	0.0150	-23	c.-43 others(40): Show c.-43+9082_-43+9104delTATATATATATATATATATATAT	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	3/8			chr22	TogoVar
PPARA_chr22_46145526_46248755	46205532	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0119 a0001c0001t0068g0119	1	200	0.0050	-23	c.208 others(40): Show c.208+6943_208+6965delATATATATATATATATATATATT	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPARGC1A_chr4_23787021_23895047	23811889	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp1 HG02976.hp2 others(2): Show HG01243.hp2 HG02630.hp1 HG02976.hp2 HG04115.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0020 a0001c0001t0069 a0001c0001t0077 others(1): Show a0001c0001t0020 a0001c0001t0069 a0001c0001t0077 a0001c0003t0004	a0001c0001t0020g0212 a0001c0001t0020g0213 a0001c0001t0069g0279 others(2): Show a0001c0001t0020g0212 a0001c0001t0020g0213 a0001c0001t0069g0279 a0001c0001t0077g0280 a0001c0003t0004g0315	5	342	0.0146	-23	c.201 others(40): Show c.2019+835_2019+857delAAAAAAAAAAAAAAAAAAAAAAA	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	10/12			chr4	TogoVar
PPAT_chr4_56388362_56440615	56409181	TTACAGAT others(16): Show TTACAGATAAACACACTAAAGCAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03225.hp1 HG02486.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0148 a0001c0001t0001g0149	2	384	0.0052	-23	c.129 others(40): Show c.129-1488_129-1466delTTGCTTTAGTGTGTTTATCTGTA	PPAT	ENSG00000128059.8	transcript	ENST00000264220.6	protein_coding	1/10			chr4	TogoVar
PPEF2_chr4_75854867_75907452	75856866	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0213 a0002c0008t0001g0213	1	270	0.0037	-23	c.37 others(34): Show c.3778_*3800delAAAAAAATATATATATATATATA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding		3000		chr4	TogoVar
PPFIA2_chr12_81252975_81764350	81637236	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp2 HG01257.hp2 others(20): Show HG00741.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01981.hp1 HG02145.hp2 HG02300.hp2 HG02683.hp1 HG02809.hp1 HG02818.hp2 HG03041.hp1 HG03239.hp2 HG03491.hp2 HG03710.hp1 HG03942.hp2 NA19005.hp2 NA19043.hp2 NA19057.hp1 NA19068.hp1 NA19080.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006	a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0107 others(20): Show a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0139 a0001c0001t0002g0043 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0005g0023 a0001c0002t0001g0030 a0001c0002t0001g0041 a0001c0002t0001g0072 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0096 a0001c0002t0001g0106 a0001c0002t0001g0158 a0001c0002t0001g0167 a0001c0002t0002g0044 a0001c0002t0002g0080 a0001c0002t0002g0159 a0001c0002t0003g0022 a0001c0002t0006g0025	23	168	0.1369	-23	c.303 others(42): Show c.303+39532_303+39554delAAAAAAAAAAAAAAAAAAAAAAA	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPFIA3_chr19_49114544_49156026	49138656	CAAGTTTC others(16): Show CAAGTTTCTGCATAGGATTTTAAA	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0241 a0002c0002t0001g0241	1	362	0.0028	-23	c.207 others(40): Show c.2076+239_2076+261delCATAGGATTTTAAAAAGTTTCTG	PPFIA3	ENSG00000177380.14	transcript	ENST00000334186.9	protein_coding	16/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPFIBP1_chr12_27519206_27700564	27620662	GGTGCCTC others(16): Show GGTGCCTCAGTTTGATCACTTTCT	G G	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	314	0.0032	-23	c.-35 others(42): Show c.-35-12681_-35-12659delTTTCTGTGCCTCAGTTTGATCAC	PPFIBP1	ENSG00000110841.14	transcript	ENST00000228425.11	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPFIBP2_chr11_7508999_7658756	7576986	ATTTTTAG others(16): Show ATTTTTAGTCTTCTCCCCAGTCCC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01175.hp2 HG01192.hp2 others(2): Show HG01099.hp2 HG01175.hp2 HG01192.hp2 HG02698.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0002 a0001c0002t0002 a0001c0006t0002 a0001c0001t0002 a0001c0002t0002 a0001c0006t0002	a0001c0001t0002g0060 a0001c0001t0002g0212 a0001c0001t0002g0225 others(2): Show a0001c0001t0002g0060 a0001c0001t0002g0212 a0001c0001t0002g0225 a0001c0002t0002g0214 a0001c0006t0002g0213	5	318	0.0157	-23	c.279 others(42): Show c.279+11220_279+11242delTTTTTAGTCTTCTCCCCAGTCCC	PPFIBP2	ENSG00000166387.14	transcript	ENST00000299492.9	protein_coding	3/23			chr11	TogoVar
PPIAL4A_chr1_120884771_120895530	120889439	AAAAGAAG others(16): Show AAAAGAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	280	0.0036	-23	c.-38 others(32): Show c.-381_-359delAAAGAAGAAAGAAAGAAAGAAAG	PPIAL4A	ENSG00000263353.4	transcript	ENST00000577856.3	protein_coding		331		chr1	TogoVar
PPIAL4F_chr1_144587893_144598652	144598068	CTGGACAC others(16): Show CTGGACACTTCTGAACCACATTTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	220	0.0046	-23	c.46 others(34): Show c.4632_*4654delTGGACACTTCTGAACCACATTTA	PPIAL4F	ENSG00000279782.3	transcript	ENST00000581138.4	protein_coding		4417		chr1	TogoVar
PPIP5K1_chr15_43528475_43595208	43549043	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA19081.hp1 HG02698.hp2 NA19081.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0016 a0001c0001 a0008c0016	a0001c0001t0002 a0008c0016t0002 a0001c0001t0002 a0008c0016t0002	a0001c0001t0002g0071 a0008c0016t0002g0106 a0001c0001t0002g0071 a0008c0016t0002g0106	2	114	0.0175	-23	c.355 others(42): Show c.3557-9483_3557-9461delATATATATATTTTTTTTTTTTTT	PPIP5K1	ENSG00000168781.24	transcript	ENST00000420765.6	protein_coding	30/31			chr15	TogoVar
PPIP5K1_chr15_43528475_43595208	43549045	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG01099.hp2 others(5): Show HG00408.hp2 HG00558.hp1 HG01099.hp2 HG01928.hp2 HG03017.hp2 HG04199.hp1 NA18943.hp2 NA19079.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0012	a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 others(1): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 a0005c0012t0002	a0001c0001t0002g0089 a0001c0002t0002g0104 a0001c0002t0002g0113 others(5): Show a0001c0001t0002g0089 a0001c0002t0002g0104 a0001c0002t0002g0113 a0001c0003t0002g0099 a0001c0003t0002g0101 a0001c0003t0002g0102 a0001c0003t0002g0105 a0005c0012t0002g0098	8	114	0.0702	-23	c.355 others(42): Show c.3557-9485_3557-9463delATATATATATATTTTTTTTTTTT	PPIP5K1	ENSG00000168781.24	transcript	ENST00000420765.6	protein_coding	30/31			chr15	TogoVar
PPM1E_chr17_58750854_58990179	58816769	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03540.hp2 HG02257.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0190 a0001c0001t0002g0184 a0001c0001t0002g0190	2	312	0.0064	-23	c.464 others(42): Show c.464+60309_464+60331delATATATATATATATATATATATA	PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6			chr17	TogoVar
PPM1E_chr17_58750854_58990179	58816772	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02723.hp2 others(1): Show HG01884.hp2 HG02451.hp2 HG02723.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0206 a0001c0001t0002g0301 others(1): Show a0001c0001t0002g0198 a0001c0001t0002g0206 a0001c0001t0002g0301 a0001c0001t0002g0302	4	312	0.0128	-23	c.464 others(42): Show c.464+60313_464+60335delATATATATATATATATATATATT	PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PPM1E_chr17_58750854_58990179	58816774	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0019 a0004c0004t0019	a0004c0004t0019g0122 a0004c0004t0019g0122	1	312	0.0032	-23	c.464 others(42): Show c.464+60315_464+60337delATATATATATATATATATATTTT	PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PPM1J_chr1_112704998_112720332	112706441	ACACACAC others(16): Show ACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19054.hp2 NA19012.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	422	0.0047	-23	c.36 others(34): Show c.3699_*3721delGTGTGTGTGTGTGTGTGTGTGTG	PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding		3556		chr1	TogoVar
PPP1CC_chr12_110714680_110747891	110742996	GGGAGGGG others(16): Show GGGAGGGGGCGGGGCCCGGGCGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	338	0.0030	-23	c.-31 others(32): Show c.-312_-290delAGCGCCCGGGCCCCGCCCCCTCC	PPP1CC	ENSG00000186298.12	transcript	ENST00000335007.10	protein_coding		106		chr12	TogoVar
PPP1R12A_chr12_79768568_79940097	79801345	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00673.hp1 others(33): Show HG00408.hp1 HG00544.hp2 HG00673.hp1 HG01243.hp2 HG01934.hp2 HG01975.hp1 HG02040.hp1 HG02080.hp1 HG02148.hp1 HG02165.hp2 HG02300.hp2 HG02523.hp1 HG03239.hp2 HG03490.hp2 HG03831.hp2 HG04228.hp1 NA18948.hp2 NA18953.hp1 NA18956.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18966.hp2 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA18992.hp1 NA19005.hp2 NA19011.hp1 NA19056.hp2 NA19064.hp2 NA19079.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020	a0001c0001t0001g0241 a0001c0001t0004g0001 a0001c0001t0004g0268 others(32): Show a0001c0001t0001g0241 a0001c0001t0004g0001 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0303 a0001c0001t0004g0311 a0001c0001t0018g0266 a0001c0001t0019g0272 a0001c0001t0020g0310	36	312	0.1154	-23	c.200 others(42): Show c.2001-2784_2001-2762delTTTTTTTTTTTTTTTTTTTTTTT	PPP1R12A	ENSG00000058272.19	transcript	ENST00000450142.7	protein_coding	14/24			chr12	TogoVar
PPP1R2B_chr5_156845295_156857528	156857096	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03139.hp1 HG02970.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0001g0000 a0001c0001t0006g0000	2	430	0.0047	-23	c.59 others(34): Show c.5917_*5939delTTTTTTTTTTTTTTTTTTTTTTT	PPP1R2B	ENSG00000231989.5	transcript	ENST00000522232.3	protein_coding		4569		chr5	TogoVar
PPP1R36_chr14_64544961_64594381	64575220	TCCCCCAT others(16): Show TCCCCCATAGGAAAATAATTATTC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	328	0.0031	-23	c.668 others(38): Show c.668+646_668+668delTAATTATTCCCCCCATAGGAAAA	PPP1R36	ENSG00000165807.8	transcript	ENST00000298705.6	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP1R42_chr8_66959103_67033554	66967594	TGTTTTAA others(16): Show TGTTTTAACTGTTATTCGAGTTCA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	132	0.0076	-23	c.803 others(40): Show c.803-3283_803-3261delTGAACTCGAATAACAGTTAAAAC	PPP1R42	ENSG00000178125.15	transcript	ENST00000685739.1	protein_coding	7/7			chr8	TogoVar
PPP1R8_chr1_27825782_27856676	27856634	AGGGACAC others(16): Show AGGGACACAGCCTGTCCCTATCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG02895.hp1 HG03098.hp1 others(1): Show HG01069.hp2 HG02895.hp1 HG03098.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0015 a0002c0002t0003g0113 a0002c0002t0003g0015 a0002c0002t0003g0113	4	340	0.0118	-23	c.61 others(34): Show c.6189_*6211delGGGACACAGCCTGTCCCTATCTT	PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding		4959		chr1	TogoVar
PPP1R9A_chr7_94902594_95301400	94908712	GTGTAGGG others(16): Show GTGTAGGGGAGAGGGGAGGGTGTT	G G	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0213 a0003c0003t0001g0213	1	290	0.0035	-23	c.-21 others(42): Show c.-217+1014_-217+1036delAGGGGAGAGGGGAGGGTGTTTGT	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP2R2A_chr8_26286508_26377680	26362017	ATTAAGAT others(16): Show ATTAAGATTAGATTAAGATTAATC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	340	0.0029	-23	c.638 others(38): Show c.638-644_638-622delCTTAAGATTAGATTAAGATTAAT	PPP2R2A	ENSG00000221914.11	transcript	ENST00000380737.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP2R2C_chr4_6315581_6477614	6337138	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	298	0.0034	-23	c.791 others(40): Show c.791-3430_791-3408delATATATATATATATATATATATA	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8			chr4	TogoVar
PPP2R2D_chr10_131896008_131964834	131939160	TCGGCAGA others(16): Show TCGGCAGACCTGCTCCAGAAAACA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0178 a0001c0001t0083g0178	1	394	0.0025	-23	c.199 others(38): Show c.199-864_199-842delACCTGCTCCAGAAAACACGGCAG	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R3A_chr3_135960728_136152894	135966041	GCGGTGCG others(16): Show GCGGTGCGGTGCGGTGCGTTGCCT	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0002 a0005c0005t0003g0002	1	238	0.0042	-23	c.-44 others(40): Show c.-441+196_-441+218delTGCGGTGCGGTGCGTTGCCTCGG	PPP2R3A	ENSG00000073711.11	transcript	ENST00000264977.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP2R3B_chrX_328933_391907	339451	AGGGGTGA others(16): Show AGGGGTGAGGGGAGGAGCCGGGGG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	25	0.0400	-23	c.135 others(40): Show c.1352-578_1352-556delCCCCCGGCTCCTCCCCTCACCCC	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	10/12			chrX	TogoVar

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Search Results (Total: 4709 hits)