Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(28): Show CCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02738.hp2 NA18939.hp1 others(3): Show HG00280.hp1 HG02738.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18970.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0002c0003 a0004c0010 others(1): Show a0001c0001 a0002c0003 a0004c0010 a0009c0028	a0001c0001t0001 a0001c0001t0031 a0001c0001t0088 others(3): Show a0001c0001t0001 a0001c0001t0031 a0001c0001t0088 a0002c0003t0001 a0004c0010t0026 a0009c0028t0015	a0001c0001t0001g0096 a0001c0001t0031g0167 a0001c0001t0088g0090 others(3): Show a0001c0001t0001g0096 a0001c0001t0031g0167 a0001c0001t0088g0090 a0002c0003t0001g0018 a0004c0010t0026g0207 a0009c0028t0015g0209	6	210	0.0286	35	c.387 others(54): Show c.387+26139_387+26140insCCTGCGGTCCTCCCGCTCATCCTCCC GGCCCCCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(28): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03453.hp2 HG03516.hp2 others(1): Show HG03139.hp2 HG03453.hp2 HG03516.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0013 a0001c0001 a0001c0004 a0001c0013	a0001c0001t0007 a0001c0001t0053 a0001c0004t0004 others(1): Show a0001c0001t0007 a0001c0001t0053 a0001c0004t0004 a0001c0013t0041	a0001c0001t0007g0054 a0001c0001t0053g0154 a0001c0004t0004g0051 others(1): Show a0001c0001t0007g0054 a0001c0001t0053g0154 a0001c0004t0004g0051 a0001c0013t0041g0025	4	210	0.0191	35	c.387 others(54): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212602	C C	CCCGGCCC others(28): Show CCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0055 a0001c0004t0055	a0001c0004t0055g0004 a0001c0004t0055g0004	1	210	0.0048	35	c.387 others(54): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTACCGGCC CCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212618	A A	AGGTCCTC others(28): Show AGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	210	0.0048	35	c.387 others(54): Show c.387+26187_387+26221dupCCGCTCATCCTCCCGGCCCCCTCGCT GCGGTCCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM7_chr16_90051566_90082331	90052501	A A	ATCTCTGT others(28): Show ATCTCTGTAGACCGGCCGGAACCACTGCCTGGTCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00621.hp2 others(26): Show HG00438.hp1 HG00597.hp2 HG00621.hp2 HG01175.hp2 HG01261.hp1 HG01981.hp1 HG02015.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02273.hp2 HG02602.hp1 HG03491.hp1 HG03492.hp2 NA18943.hp1 NA18947.hp2 NA18950.hp1 NA18954.hp1 NA18956.hp2 NA18971.hp1 NA18979.hp2 NA18984.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp2	a0001 a0004 a0010 others(1): Show a0001 a0004 a0010 a0020	a0001c0001 a0004c0004 a0010c0012 others(1): Show a0001c0001 a0004c0004 a0010c0012 a0020c0015	a0001c0001t0001 a0004c0004t0003 a0004c0004t0014 others(4): Show a0001c0001t0001 a0004c0004t0003 a0004c0004t0014 a0004c0004t0029 a0004c0004t0033 a0010c0012t0003 a0020c0015t0003	a0001c0001t0001g0001 a0001c0001t0001g0038 a0004c0004t0003g0025 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0038 a0004c0004t0003g0025 a0004c0004t0003g0027 a0004c0004t0003g0056 a0004c0004t0003g0179 a0004c0004t0003g0181 a0004c0004t0003g0182 a0004c0004t0003g0184 a0004c0004t0003g0185 a0004c0004t0003g0187 a0004c0004t0003g0188 a0004c0004t0014g0026 a0004c0004t0014g0183 a0004c0004t0029g0186 a0004c0004t0033g0180 a0010c0012t0003g0177 a0020c0015t0003g0101	29	392	0.0740	35	c.57 others(46): Show c.5787_*5788insATGACCAGGCAGTGGTTCCGGCCGGTCTACAGAG A	PRDM7	ENSG00000126856.16	transcript	ENST00000449207.8	protein_coding		4064		chr16	TogoVar
PREPL_chr2_44312607_44366494	44365605	T T	TTTTCCCG others(28): Show TTTTCCCGCCCCCGCCCTTCCTCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0021 a0001c0001t0016g0021	1	382	0.0026	35	c.-42 others(46): Show c.-4275_-4274insGGGGGGGGGGGGGGAGGAAGGGCGGGGGCGGGAA A	PREPL	ENSG00000138078.16	transcript	ENST00000409411.6	protein_coding		4112		chr2	TogoVar
PREX2_chr8_67947046_68242032	67983305	A A	AGATTAAA others(28): Show AGATTAAATGCTCCCTCCAGCTGACCCAGCTCCACG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00621.hp1 others(91): Show HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03710.hp1 HG03831.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18993.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19068.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0011 a0012 a0013	a0001c0001 a0001c0002 a0001c0003 others(50): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0021 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0031 a0001c0034 a0001c0037 a0001c0038 a0001c0040 a0001c0042 a0001c0044 a0001c0047 a0001c0048 a0001c0064 a0002c0035 a0002c0039 a0002c0043 a0002c0045 a0002c0046 a0002c0049 a0002c0057 a0002c0073 a0003c0020 a0003c0060 a0004c0069 a0004c0074 a0005c0051 a0008c0052 a0009c0070 a0011c0041 a0012c0059 a0013c0067	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(79): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0036 a0001c0002t0002 a0001c0002t0004 a0001c0002t0014 a0001c0002t0020 a0001c0003t0006 a0001c0003t0009 a0001c0003t0012 a0001c0003t0021 a0001c0003t0041 a0001c0004t0002 a0001c0004t0004 a0001c0004t0006 a0001c0004t0008 a0001c0004t0012 a0001c0004t0014 a0001c0005t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0007 a0001c0007t0001 a0001c0007t0011 a0001c0008t0007 a0001c0008t0042 a0001c0009t0005 a0001c0009t0029 a0001c0010t0001 a0001c0011t0003 a0001c0011t0012 a0001c0011t0043 a0001c0012t0024 a0001c0013t0003 a0001c0015t0001 a0001c0015t0013 a0001c0016t0004 a0001c0016t0007 a0001c0017t0002 a0001c0017t0004 a0001c0018t0001 a0001c0018t0032 a0001c0019t0001 a0001c0021t0009 a0001c0023t0002 a0001c0023t0039 a0001c0024t0002 a0001c0025t0001 a0001c0026t0002 a0001c0026t0003 a0001c0027t0002 a0001c0028t0005 a0001c0031t0048 a0001c0034t0004 a0001c0037t0001 a0001c0038t0003 a0001c0040t0002 a0001c0042t0001 a0001c0044t0034 a0001c0047t0001 a0001c0048t0001 a0001c0064t0001 a0002c0035t0002 a0002c0039t0003 a0002c0043t0001 a0002c0045t0003 a0002c0046t0033 a0002c0049t0002 a0002c0057t0047 a0002c0073t0003 a0003c0020t0002 a0003c0060t0005 a0004c0069t0045 a0004c0074t0002 a0005c0051t0001 a0008c0052t0001 a0009c0070t0002 a0011c0041t0001 a0012c0059t0002 a0013c0067t0002	a0001c0001t0002g0154 a0001c0001t0002g0165 a0001c0001t0002g0190 others(91): Show a0001c0001t0002g0154 a0001c0001t0002g0165 a0001c0001t0002g0190 a0001c0001t0006g0141 a0001c0001t0010g0148 a0001c0001t0014g0013 a0001c0001t0036g0012 a0001c0002t0002g0003 a0001c0002t0002g0074 a0001c0002t0004g0064 a0001c0002t0014g0170 a0001c0002t0020g0156 a0001c0003t0006g0011 a0001c0003t0009g0007 a0001c0003t0012g0147 a0001c0003t0021g0130 a0001c0003t0041g0134 a0001c0004t0002g0129 a0001c0004t0002g0131 a0001c0004t0004g0152 a0001c0004t0006g0017 a0001c0004t0008g0158 a0001c0004t0012g0159 a0001c0004t0014g0005 a0001c0005t0001g0015 a0001c0005t0001g0151 a0001c0005t0001g0166 a0001c0006t0002g0034 a0001c0006t0003g0055 a0001c0006t0003g0057 a0001c0006t0007g0030 a0001c0007t0001g0002 a0001c0007t0011g0010 a0001c0008t0007g0062 a0001c0008t0042g0136 a0001c0009t0005g0004 a0001c0009t0029g0182 a0001c0010t0001g0153 a0001c0010t0001g0155 a0001c0011t0003g0167 a0001c0011t0012g0135 a0001c0011t0043g0150 a0001c0012t0024g0084 a0001c0013t0003g0073 a0001c0015t0001g0039 a0001c0015t0001g0046 a0001c0015t0013g0032 a0001c0016t0004g0063 a0001c0016t0007g0041 a0001c0017t0002g0049 a0001c0017t0004g0061 a0001c0018t0001g0051 a0001c0018t0001g0060 a0001c0018t0032g0035 a0001c0019t0001g0160 a0001c0021t0009g0006 a0001c0023t0002g0045 a0001c0023t0039g0044 a0001c0024t0002g0040 a0001c0024t0002g0052 a0001c0025t0001g0026 a0001c0025t0001g0031 a0001c0026t0002g0038 a0001c0026t0003g0188 a0001c0027t0002g0023 a0001c0028t0005g0016 a0001c0031t0048g0133 a0001c0034t0004g0050 a0001c0037t0001g0029 a0001c0038t0003g0022 a0001c0040t0002g0053 a0001c0042t0001g0033 a0001c0044t0034g0036 a0001c0047t0001g0024 a0001c0048t0001g0037 a0001c0064t0001g0149 a0002c0035t0002g0056 a0002c0039t0003g0059 a0002c0043t0001g0058 a0002c0045t0003g0028 a0002c0046t0033g0027 a0002c0049t0002g0047 a0002c0057t0047g0008 a0002c0073t0003g0054 a0003c0020t0002g0128 a0003c0060t0005g0009 a0004c0069t0045g0187 a0004c0074t0002g0001 a0005c0051t0001g0042 a0008c0052t0001g0048 a0009c0070t0002g0157 a0011c0041t0001g0043 a0012c0059t0002g0173 a0013c0067t0002g0014	94	190	0.4947	35	c.141 others(54): Show c.141+30772_141+30773insTTAAATGCTCCCTCCAGCTGACCCAG CTCCACGGA	PREX2	ENSG00000046889.19	transcript	ENST00000288368.5	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr8	TogoVar
PRIM2_chr6_57312630_57651850	57446418	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	300	0.0033	35	c.694 others(54): Show c.694-60954_694-60953insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRIMA1_chr14_93713298_93793485	93722007	C C	CTAGTGGT others(28): Show CTAGTGGTGATGCTGGTGGTAATGGGGTGATGGTGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(35): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01261.hp2 HG01978.hp2 HG02074.hp2 HG02155.hp2 HG02280.hp1 HG02300.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02683.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG03130.hp2 HG03209.hp1 HG03471.hp1 HG03516.hp1 HG04199.hp2 NA18906.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 others(9): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0003t0002 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0004t0023 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0001c0005t0028	a0001c0002t0001g0009 a0001c0002t0001g0101 a0001c0002t0001g0180 others(32): Show a0001c0002t0001g0009 a0001c0002t0001g0101 a0001c0002t0001g0180 a0001c0002t0001g0188 a0001c0002t0001g0261 a0001c0002t0001g0292 a0001c0002t0001g0302 a0001c0002t0001g0368 a0001c0002t0004g0253 a0001c0002t0005g0012 a0001c0003t0002g0249 a0001c0004t0001g0001 a0001c0004t0001g0026 a0001c0004t0001g0028 a0001c0004t0001g0058 a0001c0004t0001g0060 a0001c0004t0001g0065 a0001c0004t0004g0032 a0001c0004t0004g0033 a0001c0004t0004g0063 a0001c0004t0004g0066 a0001c0004t0004g0069 a0001c0004t0004g0316 a0001c0004t0004g0342 a0001c0004t0005g0194 a0001c0004t0023g0336 a0001c0005t0001g0277 a0001c0005t0001g0278 a0001c0005t0001g0313 a0001c0005t0001g0323 a0001c0005t0001g0324 a0001c0005t0001g0326 a0001c0005t0004g0034 a0001c0005t0005g0272 a0001c0005t0028g0053	38	397	0.0957	35	c.360 others(50): Show c.360-462_360-461insCCACCATCACCCCATTACCACCAGCATCAC CACTA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722071	A A	ATGGTGGT others(28): Show ATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGG	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	397	0.0025	35	c.360 others(50): Show c.360-560_360-526dupCCACCCCATTACCACCAGCATCACCACTAC CACCA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722189	T T	TGATGCTG others(28): Show TGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp2 HG03486.hp2 others(1): Show HG02451.hp2 HG02486.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0274 a0001c0001t0002g0205 a0001c0001t0002g0207 others(1): Show a0001c0001t0001g0274 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0003t0002g0337	4	397	0.0101	35	c.360 others(50): Show c.360-644_360-643insGCCACTACCACCACCACCCCATTACCACCA GCATC	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722246	G G	GTGGTGGT others(28): Show GTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG02165.hp2 HG00408.hp2 HG00544.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0133	3	397	0.0076	35	c.360 others(50): Show c.360-701_360-700insTCACCCCATTACCACCAGCATCACCACTAC CACCA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722250	T T	TGGTAGTG others(28): Show TGGTAGTGGTGATGCTGGTGGTAATGGGGTGATGGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0342 a0001c0004t0004g0342	1	397	0.0025	35	c.360 others(50): Show c.360-705_360-704insTCCATCACCCCATTACCACCAGCATCACCA CTACC	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722287	G G	GTAGTGGT others(28): Show GTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03139.hp2 HG03195.hp2 others(1): Show HG02523.hp1 HG03139.hp2 HG03195.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0004t0001 a0001c0005t0001 a0001c0001t0002 a0001c0004t0001 a0001c0005t0001	a0001c0001t0002g0154 a0001c0004t0001g0023 a0001c0004t0001g0332 others(1): Show a0001c0001t0002g0154 a0001c0004t0001g0023 a0001c0004t0001g0332 a0001c0005t0001g0215	4	397	0.0101	35	c.360 others(50): Show c.360-742_360-741insGCACCACCACCCCATTACCACCAGCATCAC CACTA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722322	G G	GTAGTGGT others(28): Show GTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0247 a0001c0004t0001g0247	1	397	0.0025	35	c.360 others(50): Show c.360-777_360-776insGCACCACCACCCCATTACCACCAGCATCAC CACTA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722351	A A	ATGGTGCT others(28): Show ATGGTGCTAGTGGTGATGCTGGTGGTAATGGGGTGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00639.hp2 others(23): Show HG00280.hp2 HG00323.hp2 HG00639.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01884.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0001 a0001c0002t0005 a0001c0004t0001 others(3): Show a0001c0002t0001 a0001c0002t0005 a0001c0004t0001 a0001c0004t0005 a0001c0005t0001 a0001c0005t0005	a0001c0002t0001g0009 a0001c0002t0001g0180 a0001c0002t0001g0261 others(20): Show a0001c0002t0001g0009 a0001c0002t0001g0180 a0001c0002t0001g0261 a0001c0002t0001g0292 a0001c0002t0001g0315 a0001c0002t0005g0012 a0001c0002t0005g0371 a0001c0004t0001g0001 a0001c0004t0001g0024 a0001c0004t0001g0031 a0001c0004t0001g0059 a0001c0004t0001g0065 a0001c0004t0001g0173 a0001c0004t0001g0186 a0001c0004t0001g0331 a0001c0004t0001g0335 a0001c0004t0005g0194 a0001c0005t0001g0198 a0001c0005t0001g0278 a0001c0005t0001g0313 a0001c0005t0001g0323 a0001c0005t0001g0324 a0001c0005t0005g0272	26	397	0.0655	35	c.360 others(50): Show c.360-806_360-805insCCACCCCATTACCACCAGCATCACCACTAG CACCA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722351	A A	ATGGTGGT others(28): Show ATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp1 NA18522.hp2 HG02647.hp1 HG02818.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0006 a0001c0006t0006 a0001c0003t0006 a0001c0006t0006	a0001c0003t0006g0189 a0001c0006t0006g0319 a0001c0006t0006g0325 a0001c0003t0006g0189 a0001c0006t0006g0319 a0001c0006t0006g0325	3	397	0.0076	35	c.360 others(50): Show c.360-806_360-805insCCACCCCATTACCACCAGCATCACCACTAC CACCA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRKACB_chr1_84139271_84243498	84198849	G G	GTATATGT others(28): Show GTATATGTGTATATATATACACCACATATATGTGTA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	320	0.0031	35	c.783 others(52): Show c.783+1047_783+1081dupCACATATATGTGTATATATGTGTATATA TATACAC	PRKACB	ENSG00000142875.21	transcript	ENST00000370685.7	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCA_chr17_66297613_66815743	66815199	T T	TAGCCTGT others(28): Show TAGCCTGTTTTCAAGACTGTACCATTAGCGTGAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0077 a0001c0003t0018g0077	1	178	0.0056	35	c.11 others(48): Show c.11162_*11163insAGCCTGTTTTCAAGACTGTACCATTAGCGTGA AAA	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding		4457		chr17	TogoVar
PRKCB_chr16_23830983_24225611	23981661	T T	TCCCCTTC others(28): Show TCCCCTTCTCTCCCTTCCCCTTCCCCCCTTCCCCCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0121 a0001c0002t0031g0121	1	148	0.0068	35	c.206 others(52): Show c.206-6847_206-6846insCCCCTTCTCTCCCTTCCCCTTCCCCCCT TCCCCCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16			chr16	TogoVar
PRKCH_chr14_61316579_61555976	61380302	C C	CTGCCTTG others(28): Show CTGCCTTGGCCTCCCAAAGTGTTGGGATTTCAGGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp1 HG01361.hp1 others(3): Show HG00597.hp2 HG00673.hp1 HG01361.hp1 HG01928.hp1 HG01978.hp2 HG02056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0005t0001	a0001c0001t0001g0067 a0001c0001t0002g0084 a0001c0001t0002g0094 others(3): Show a0001c0001t0001g0067 a0001c0001t0002g0084 a0001c0001t0002g0094 a0001c0001t0002g0151 a0001c0001t0004g0049 a0002c0005t0001g0105	6	208	0.0289	35	c.364 others(54): Show c.364-10885_364-10851dupCCTTGGCCTCCCAAAGTGTTGGGATT TCAGGTGTG	PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCQ_chr10_6422148_6585276	6429836	C C	CCTCCTGT others(28): Show CCTCCTGTCTTGGCCTACTGAGGAGTTTGAACTACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01167.hp1 others(18): Show HG00639.hp1 HG00642.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG02129.hp2 HG02165.hp1 HG02647.hp2 HG03017.hp2 HG03453.hp2 HG03669.hp1 HG03710.hp2 HG04199.hp2 NA18944.hp2 NA18970.hp2 NA18977.hp2 NA19011.hp2 NA19030.hp1 NA19077.hp2 NA19090.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0002c0002t0003	a0001c0001t0001g0171 a0001c0001t0003g0136 a0001c0001t0003g0152 others(18): Show a0001c0001t0001g0171 a0001c0001t0003g0136 a0001c0001t0003g0152 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0206 a0001c0001t0003g0224 a0001c0001t0003g0239 a0001c0001t0004g0012 a0001c0001t0004g0016 a0001c0001t0004g0030 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0051 a0001c0001t0005g0111 a0001c0001t0005g0114 a0001c0001t0005g0116 a0002c0002t0003g0213	21	252	0.0833	35	c.196 others(52): Show c.1965+939_1965+973dupTGTAGTTCAAACTCCTCAGTAGGCCAAG ACAGGAG	PRKCQ	ENSG00000065675.16	transcript	ENST00000263125.10	protein_coding	17/17			chr10	TogoVar
PRKCZ_chr1_2045411_2190395	2123310	G G	GTAGTTAG others(28): Show GTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	286	0.0035	35	c.335 others(54): Show c.335-11952_335-11951insTAGTTAGGGTCATGGTGGTAGTTAGG ATCATGGCT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKG2_chr4_81082375_81220222	81217919	C C	CATTCCAG others(28): Show CATTCCAGTATGGCCAGCTATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	250	0.0040	35	c.-29 others(46): Show c.-2998_-2997insAAAAAAAAAAAAAAAATAGCTGGCCATACTGGAA T	PRKG2	ENSG00000138669.10	transcript	ENST00000264399.6	protein_coding		2698		chr4	TogoVar
PRKN_chr6_161342417_162732766	161350561	A A	AATATATT others(28): Show AATATATTTATATTTAAAATATATAAATATATTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	32	0.0313	35	c.128 others(52): Show c.1286-385_1286-351dupAAAAATATATTTATATATTTTAAATATA AATATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	11/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161875002	T T	TATTATAT others(28): Show TATTATATATTATATATAAAGTATATAATATAATAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02922.hp1 HG02976.hp2 others(2): Show HG02647.hp2 HG02922.hp1 HG02976.hp2 HG03516.hp2 HG03704.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0003 a0004c0009 others(1): Show a0001c0001 a0001c0003 a0004c0009 a0005c0011	a0001c0001t0002 a0001c0001t0007 a0001c0003t0003 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0003t0003 a0004c0009t0011 a0005c0011t0012	a0001c0001t0002g0005 a0001c0001t0007g0020 a0001c0003t0003g0027 others(2): Show a0001c0001t0002g0005 a0001c0001t0007g0020 a0001c0003t0003g0027 a0004c0009t0011g0031 a0005c0011t0012g0009	5	32	0.1563	35	c.735 others(54): Show c.735-89129_735-89095dupTTATTATATTATATACTTTATATATA ATATATAAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162235957	G G	GAAAGAAA others(28): Show GAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0004 a0003c0006t0003g0004	1	32	0.0313	35	c.412 others(54): Show c.412+26567_412+26568insTCTTTCTTTCTTTCTTTCTTTTTCTT TCTTTCTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	3/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162450350	C C	CTGTGAAT others(28): Show CTGTGAATGTAAACGCCCCTGTGATTGTAATCCCCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0004 a0003c0006t0003g0004	1	32	0.0313	35	c.8-6 others(48): Show c.8-6878_8-6877insAGGGGATTACAATCACAGGGGCGTTTACATTC ACA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162532170	G G	GATAATAC others(28): Show GATAATACAAAGGCTACAATCCCTAACAGAACCTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02922.hp1 HG03516.hp1 others(1): Show HG02897.hp2 HG02922.hp1 HG03516.hp1 HG03688.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0003c0005 a0001c0003 a0001c0004 a0003c0005	a0001c0003t0003 a0001c0004t0001 a0003c0005t0001 others(1): Show a0001c0003t0003 a0001c0004t0001 a0003c0005t0001 a0003c0005t0002	a0001c0003t0003g0027 a0001c0004t0001g0001 a0003c0005t0001g0015 others(1): Show a0001c0003t0003g0027 a0001c0004t0001g0001 a0003c0005t0001g0015 a0003c0005t0002g0026	4	32	0.1250	35	c.8-8 others(50): Show c.8-88698_8-88697insAAAGGTTCTGTTAGGGATTGTAGCCTTTGT ATTAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162532170	G G	GATAATAC others(28): Show GATAATACAAAGTCTACAATCCCTAACAGAACCTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG01361.hp1 others(6): Show HG01192.hp1 HG01192.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG02647.hp2 HG02976.hp1 HG03209.hp1 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0030 others(6): Show a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0002g0024 a0001c0001t0003g0021 a0001c0001t0004g0029 a0001c0001t0007g0020 a0002c0002t0001g0016 a0002c0002t0004g0019	9	32	0.2813	35	c.8-8 others(50): Show c.8-88698_8-88697insAAAGGTTCTGTTAGGGATTGTAGACTTTGT ATTAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162532172	T T	TAATACAA others(28): Show TAATACAAAGGCTACAATCCCTAACAGAACCTTTAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	32	0.0313	35	c.8-8 others(50): Show c.8-88700_8-88699insGTAAAGGTTCTGTTAGGGATTGTAGCCTTT GTATT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PROCA1_chr17_28698197_28716888	28708385	T T	TTTGGGTA others(28): Show TTTGGGTATTTCTTTTCTTAGCAGACCTCATCTCTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	320	0.0031	35	c.92- others(50): Show c.92-1623_92-1622insGAGAGATGAGGTCTGCTAAGAAAAGAAATA CCCAA	PROCA1	ENSG00000167525.16	transcript	ENST00000682792.1	protein_coding	1/4			chr17	TogoVar
PROKR2_chr20_5294218_5321954	5299034	G G	GCTTGTTA others(28): Show GCTTGTTATATTGCTTGTCCACATTAATCTGCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	424	0.0024	35	c.30 others(46): Show c.3005_*3006insTGTGGCAGATTAATGTGGACAAGCAATATAACAA G	PROKR2	ENSG00000101292.8	transcript	ENST00000678254.1	protein_coding		183		chr20	TogoVar
PROSER2_chr10_11818356_11877277	11842931	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA18944.hp1 HG01516.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0123 a0001c0001t0001g0040 a0001c0001t0001g0123	2	348	0.0058	35	c.-81 others(52): Show c.-81-9039_-81-9038insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	392	0.0026	35	c.582 others(50): Show c.582-989_582-988insATATATATATATATATATATATATATATAT ATATT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRR36_chr19_7863719_7879390	7878259	C C	CAGGCTGG others(28): Show CAGGCTGGAGTGCAATGGCGTGATCTTGGCCCTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	386	0.0026	35	c.-39 others(46): Show c.-3982_-3981insATTAGGGCCAAGATCACGCCATTGCACTCCAGCC T	PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding		3870		chr19	TogoVar
PRR5L_chr11_36291288_36470204	36351047	T T	TTATATGT others(28): Show TTATATGTATTTTATATATAAATATATATTTATAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18965.hp2 HG03041.hp1 NA18965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0006 a0001c0001t0001 a0002c0004t0006	a0001c0001t0001g0205 a0002c0004t0006g0130 a0001c0001t0001g0205 a0002c0004t0006g0130	2	272	0.0074	35	c.-12 others(56): Show c.-125-49874_-125-49840dupGTATTTTATATATAAATATATATT TATAAATATAT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRRC1_chr5_127512640_127560085	127531617	C C	CTTCTTTT others(28): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0051 a0001c0001t0022g0051	1	340	0.0029	35	c.757 others(52): Show c.757+1223_757+1224insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PRRC1	ENSG00000164244.21	transcript	ENST00000296666.13	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRRC2B_chr9_131389086_131505193	131420489	C C	CCTTCTTT others(28): Show CCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0021 a0021	a0021c0034 a0021c0034	a0021c0034t0048 a0021c0034t0048	a0021c0034t0048g0013 a0021c0034t0048g0013	1	216	0.0046	35	c.-51 others(52): Show c.-51-9605_-51-9604insCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31			chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131448543	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	216	0.0046	35	c.112 others(52): Show c.1120+766_1120+767insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRX1_chr1_170659131_170744421	170669425	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0143 a0001c0001t0007g0143	1	356	0.0028	35	c.241 others(52): Show c.241+4995_241+4996insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRX1_chr1_170659131_170744421	170691441	A A	ATTTCCTT others(28): Show ATTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	356	0.0028	35	c.241 others(54): Show c.241+27020_241+27054dupTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTT	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRSS57_chr19_680546_700452	690526	A A	AAAGATCA others(28): Show AAAGATCATGTCCCTGGAGGAGATCTGTCTCTTCTC	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	442	0.0023	35	c.378 others(52): Show c.378+1297_378+1331dupGAGAAGAGACAGATCTCCTCCAGGGACA TGATCTT	PRSS57	ENSG00000185198.12	transcript	ENST00000329267.9	protein_coding	3/4			chr19	TogoVar
PRTN3_chr19_835999_853175	840303	T T	TGGGCCCT others(28): Show TGGGCCCTGTGGACATCGGGGCTGGATCCTTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(181): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18946.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18995.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp2 NA19080.hp1 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0003c0003t0001	a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0049 others(148): Show a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0172 a0001c0001t0001g0256 a0001c0001t0004g0255 a0001c0001t0004g0284 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0218 a0002c0002t0002g0048 a0002c0002t0002g0063 a0002c0002t0002g0123 a0002c0002t0002g0169 a0002c0002t0005g0072 a0002c0002t0005g0073 a0002c0002t0005g0289 a0003c0003t0001g0038 a0003c0003t0001g0042	184	415	0.4434	35	c.-70 others(44): Show c.-706_-705insGGGCCCTGTGGACATCGGGGCTGGATCCTTCTCTG	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding		695		chr19	TogoVar
PRUNE2_chr9_76606376_76911114	76879903	A A	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0012 a0018c0022t0012	a0018c0022t0012g0004 a0018c0022t0012g0004	1	240	0.0042	35	c.37- others(52): Show c.37-25696_37-25695insAAAAAAAAAAAAAAATATATATATATAT ATATATA	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18			chr9	TogoVar
PRXL2A_chr10_80403551_80442115	80406757	C C	CTTATATA others(28): Show CTTATATATCATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG03490.hp2 HG01167.hp1 HG01169.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0003 a0001c0001t0022	a0001c0001t0003g0006 a0001c0001t0022g0073 a0001c0001t0003g0006 a0001c0001t0022g0073	3	300	0.0100	35	c.-18 others(46): Show c.-1889_-1888insTTATATATCATATATATATATATATATATATATA T	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding		1793		chr10	TogoVar
PSD3_chr8_18522303_19018703	18752559	T T	TATATTAT others(28): Show TATATTATATATATTATATATAATTATATATATTAC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0008 a0004c0006t0008	a0004c0006t0008g0035 a0004c0006t0008g0035	1	228	0.0044	35	c.217 others(56): Show c.2172+12889_2172+12890insGTAATATATATAATTATATATAAT ATATATAATAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73151895	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18747.hp2 NA19063.hp1 others(1): Show HG03704.hp2 NA18747.hp2 NA19063.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0257 a0001c0001t0006g0275 a0001c0001t0006g0277 others(1): Show a0001c0001t0006g0257 a0001c0001t0006g0275 a0001c0001t0006g0277 a0001c0001t0006g0282	4	378	0.0106	35	c.87+ others(50): Show c.87+3789_87+3790insATATATATATATATATATATATATATATAT ATATA	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	3/11			chr14	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0141 a0001c0002t0002g0141	1	416	0.0024	35	c.430 others(52): Show c.430+2096_430+2097insAAAAAAAAAAAAATATATATATATATAT ATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSMB2_chr1_35594541_35646526	35640087	A A	ATACTATA others(28): Show ATACTATACTATACTATACTATACTATACTGTACTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0001 a0001c0001t0014g0001	2	300	0.0067	35	c.91+ others(50): Show c.91+1254_91+1255insCAGTACAGTATAGTATAGTATAGTATAGTA TAGTA	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	1/5			chr1	TogoVar

Search by Variant

Search

Search Results (Total: 4618 hits)