Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PHLDA2_chr11_2923273_2934420	2926183	G G	GTGCCAGC others(101): Show GTGCCAGCCACCCGAACCCCAGAACCGCACCAGACACTGCCAGCCACCCG AACCCCAGAACCGCACCAGACACTGCCAGCCACCCGAACCCCACAACCGC ACCAGACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	375	0.0027	108	c.24 others(119): Show c.2494_*2495insGTGTCTGGTGCGGTTGTGGGGTTCGGGTGGCTGG CAGTGTCTGGTGCGGTTCTGGGGTTCGGGTGGCTGGCAGTGTCTGGTGCG GTTCTGGGGTTCGGGTGGCTGGCA		PHLDA2	ENSG00000181649.8	transcript	ENST00000314222.5	protein_coding					2089		chr11	TogoVar
PHLPP1_chr18_62710541_62985433	62898015	C C	CTTCTCCT others(101): Show CTTCTCCTCTTTCTCCTCTTTCTCCTCTTTCTCCTCTTTCTCCTCTTTCT CCTCTTTCTCCTCTTTCTCCTCTTTCTCCTCTTTCTCCTCTTTCTCCTCT TTCTCCTCT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0018 a0001c0001t0006g0018	1	192	0.0052	108	c.244 others(127): Show c.2444+2024_2444+2025insCTCCTCTTTCTCCTCTTTCTCCTCTT TCTCCTCTTTCTCCTCTTTCTCCTCTTTCTCCTCTTTCTCCTCTTTCTCC TCTTTCTCCTCTTTCTCCTCTTTCTCCTCTTT		PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	6/16					INFO_REALIGN_3_PRIME	chr18	TogoVar
PIAS4_chr19_4002736_4044386	4036164	A A	ACATCCAT others(101): Show ACATCCATACAGTCCACACCATCACACACACATCCATACAGTCCACACCA TCACACACACATCCATACAGTCCACACCGTCACACACACACATCTATACA GTCCACACC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	334	0.0030	108	c.114 others(127): Show c.1143-1210_1143-1209insCATCCATACAGTCCACACCATCACAC ACACATCCATACAGTCCACACCATCACACACACATCCATACAGTCCACAC CGTCACACACACACATCTATACAGTCCACACC		PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10						chr19	TogoVar
PIGQ_chr16_564968_589109	587367	A A	ATCCCTCC others(101): Show ATCCCTCCCTTCACTGGGCCTGCTGCCCCAGAGTCCGTCCCTCCCTTCAC TGGGCCTGCTGCCCCAGAGTCCGTCCCTCCCTTCACTGGGCCTGCTGCCC CAGAGTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG02148.hp2 NA18973.hp1 HG01993.hp2 HG02148.hp2 NA18973.hp1	a0005 a0011 a0005 a0011	a0005c0011 a0011c0019 a0005c0011 a0011c0019	a0005c0011t0007 a0011c0019t0007 a0005c0011t0007 a0011c0019t0007	a0005c0011t0007g0308 a0005c0011t0007g0312 a0011c0019t0007g0136 a0005c0011t0007g0308 a0005c0011t0007g0312 a0011c0019t0007g0136	3	408	0.0074	108	c.43 others(119): Show c.4332_*4333insTCCCTCCCTTCACTGGGCCTGCTGCCCCAGAGTC CGTCCCTCCCTTCACTGGGCCTGCTGCCCCAGAGTCCGTCCCTCCCTTCA CTGGGCCTGCTGCCCCAGAGTCCG		PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding					3259		chr16	TogoVar
PIGZ_chr3_196941356_196973833	196948949	C C	CTCCCTTC others(101): Show CTCCCTTCCCTTCCTTTCCTTTACTTCCCTTCCTTCCCTTCCCTCCCCTC CCTTTCCTTCCTTCCCTTTACTTCTCTTCCCCTCCCTTCCCTTCCTTCCC TTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(30): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01515.hp2 HG02027.hp1 HG02683.hp1 HG03490.hp1 HG03831.hp1 HG03942.hp2 NA18948.hp1 NA18995.hp1 NA19060.hp1 NA19067.hp2 NA19084.hp1 NA19087.hp1 NA19091.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0021 others(1): Show a0001 a0002 a0021 a0022	a0001c0004 a0001c0006 a0001c0007 others(5): Show a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0023 a0002c0005 a0021c0042 a0022c0048	a0001c0004t0001 a0001c0004t0004 a0001c0006t0001 others(7): Show a0001c0004t0001 a0001c0004t0004 a0001c0006t0001 a0001c0007t0001 a0001c0007t0009 a0001c0012t0001 a0001c0023t0001 a0002c0005t0001 a0021c0042t0001 a0022c0048t0001	a0001c0004t0001g0027 a0001c0004t0001g0102 a0001c0004t0001g0104 others(27): Show a0001c0004t0001g0027 a0001c0004t0001g0102 a0001c0004t0001g0104 a0001c0004t0001g0106 a0001c0004t0001g0129 a0001c0004t0001g0151 a0001c0004t0001g0153 a0001c0004t0001g0181 a0001c0004t0001g0186 a0001c0004t0001g0201 a0001c0004t0001g0205 a0001c0004t0001g0255 a0001c0004t0001g0257 a0001c0004t0001g0260 a0001c0004t0001g0305 a0001c0004t0001g0323 a0001c0004t0004g0027 a0001c0006t0001g0017 a0001c0007t0001g0034 a0001c0007t0001g0094 a0001c0007t0001g0117 a0001c0007t0001g0258 a0001c0007t0001g0265 a0001c0007t0001g0346 a0001c0007t0009g0116 a0001c0012t0001g0037 a0001c0023t0001g0347 a0002c0005t0001g0277 a0021c0042t0001g0185 a0022c0048t0001g0208	33	424	0.0778	108	c.212 others(123): Show c.212-265_212-264insAGGAAGGAAGGGAAGGAAGGGAAGGGAGGG GAAGAGAAGTAAAGGGAAGGAAGGAAAGGGAGGGGAGGGAAGGGAAGGAA GGGAAGTAAAGGAAAGGAAGGGAAGGGA		PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	2/2						chr3	TogoVar
PIK3C3_chr18_41950234_42092830	41952015	A A	AGGGAAGG others(101): Show AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAAGGA GGGAAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18973.hp1 NA18981.hp2 others(1): Show NA18963.hp1 NA18973.hp1 NA18981.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0060 a0001c0001t0005 a0001c0001t0060	a0001c0001t0005g0218 a0001c0001t0005g0225 a0001c0001t0005g0232 others(1): Show a0001c0001t0005g0218 a0001c0001t0005g0225 a0001c0001t0005g0232 a0001c0001t0060g0221	4	340	0.0118	108	c.-32 others(119): Show c.-3277_-3276insGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGGAAGGAGGGAAAGGG		PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding					3218		chr18	TogoVar
PIK3C3_chr18_41950234_42092830	41952015	A A	AGGGAAGG others(101): Show AGGGAAGGGAGGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAAGGA GGGAAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG06807.hp1 HG02486.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0033 a0001c0001t0001 a0001c0001t0033	a0001c0001t0001g0156 a0001c0001t0033g0006 a0001c0001t0001g0156 a0001c0001t0033g0006	2	340	0.0059	108	c.-32 others(119): Show c.-3277_-3276insGGGAAGGGAGGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGGGAAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGGAAGGAGGGAAAGGG		PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding					3218		chr18	TogoVar
PKD2L1_chr10_100283149_100335228	100314975	G G	GGGAAGGG others(101): Show GGGAAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0213 a0004c0015t0001g0213	1	306	0.0033	108	c.349 others(127): Show c.349+14235_349+14236insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTCCCCTTCC		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100314979	G G	GGGAAGGG others(101): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02683.hp1 HG01099.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0118 a0001c0001t0001g0105 a0001c0001t0001g0118	2	306	0.0065	108	c.349 others(127): Show c.349+14231_349+14232insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PKP3_chr11_389209_409908	401460	C C	CCCCGCTC others(101): Show CCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC CGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCT CACCCCCGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01943.hp2 HG02165.hp2 HG00609.hp1 HG01943.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0148 a0001c0002t0001g0158 a0001c0003t0001g0159 a0001c0002t0001g0148 a0001c0002t0001g0158 a0001c0003t0001g0159	3	216	0.0139	108	c.173 others(125): Show c.1737+764_1737+765insCCCCGGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCGCTCAC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401702	C C	CACCCGCC others(101): Show CACCCGCCCCGCTCACCCCCAGCCCCGCTCACACCCGCCCCGCTCACCCC CGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCG ACCCGCTCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA20905.hp1 HG00639.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0146 a0001c0002t0001g0140 a0001c0002t0001g0146	2	216	0.0093	108	c.173 others(125): Show c.1737+997_1737+998insACCCGCCCCGCTCACCCCCAGCCCCGCT CACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCAC CCCCGGCCCCGCTCACCCCCGACCCGCTCA		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12						chr11	TogoVar
PLCH2_chr1_2471289_2510532	2483880	T T	TGGCGCTG others(101): Show TGGCGCTGACCCCCGTGTGGGGGGGCGCTGACCCCCGTGTGGGGTGGCGC TGACTCCCGTGTGGGGGGCGCTGACTCCCGTGTTGGGGGGCGCTGACTCC CGTGTGGGG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19009.hp2 NA19005.hp1 NA19009.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0002 a0010c0013t0002	a0010c0013t0002g0055 a0010c0013t0002g0056 a0010c0013t0002g0055 a0010c0013t0002g0056	2	383	0.0052	108	c.646 others(123): Show c.646-559_646-558insCCCCGTGTGGGGGGGCGCTGACCCCCGTGT GGGGTGGCGCTGACTCCCGTGTGGGGGGCGCTGACTCCCGTGTTGGGGGG CGCTGACTCCCGTGTGGGGGGCGCTGAC		PLCH2	ENSG00000149527.18	transcript	ENST00000378486.8	protein_coding	4/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
PLD1_chr3_171595404_171815483	171639583	C C	CATATAAT others(101): Show CATATAATATATATTCATATAATATATATTCATATAATATATATTATATA TAATATATATTCATATAATATATATTATATATAATATATATTCATATAAT ATATATTAT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0068 a0002c0003t0003g0068	1	294	0.0034	108	c.259 others(127): Show c.2593+3256_2593+3257insATAATATATATTATATGAATATATAT TATATATAATATATATTATATGAATATATATTATATATAATATATATTAT ATGAATATATATTATATGAATATATATTATAT		PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	23/26						chr3	TogoVar
PLD5_chr1_242077986_242529697	242394988	A A	ATTATATA others(101): Show ATTATATATGATTATATATATGAATATATATGAATATATATGATTATATA TATGAATATATATGAATATATATGTATATATGAATATATGAATATATATG AATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03041.hp2 HG03516.hp2 others(2): Show HG02258.hp2 HG03041.hp2 HG03516.hp2 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0036 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0036 a0001c0001t0041 a0001c0002t0058	a0001c0001t0001g0057 a0001c0001t0008g0027 a0001c0001t0036g0025 others(2): Show a0001c0001t0001g0057 a0001c0001t0008g0027 a0001c0001t0036g0025 a0001c0001t0041g0008 a0001c0002t0058g0151	5	188	0.0266	108	c.190 others(127): Show c.190-46747_190-46746insATATATATTCATATATATTCATATAT TCATATATACATATATATTCATATATATTCATATATATAATCATATATAT TCATATATATTCATATATATAATCATATATAA		PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9						chr1	TogoVar
PLD5_chr1_242077986_242529697	242394989	A A	ATATATAT others(101): Show ATATATATGATTATATATATGAATATATATGAATATATATGATTATATAT ATGAATATATATGAATATATATGTATATATGAATATATGAATATATATGA ATATATATG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03471.hp1 NA18522.hp2 others(1): Show HG03098.hp2 HG03471.hp1 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0044 a0001c0002t0003 others(1): Show a0001c0001t0008 a0001c0001t0044 a0001c0002t0003 a0001c0002t0064	a0001c0001t0008g0038 a0001c0001t0044g0042 a0001c0002t0003g0135 others(1): Show a0001c0001t0008g0038 a0001c0001t0044g0042 a0001c0002t0003g0135 a0001c0002t0064g0133	4	188	0.0213	108	c.190 others(127): Show c.190-46748_190-46747insCATATATATTCATATATATTCATATA TTCATATATACATATATATTCATATATATTCATATATATAATCATATATA TTCATATATATTCATATATATAATCATATATA		PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9						chr1	TogoVar
PLEKHG4B_chr5_87168_194966	101254	G G	GGAGAGAC others(101): Show GGAGAGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGAAAAAGCCTGT AGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGCC TGTAGGGGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18906.hp2 HG02451.hp1 NA18906.hp2	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0050 a0013c0020t0052 a0013c0020t0050 a0013c0020t0052	a0013c0020t0050g0182 a0013c0020t0052g0183 a0013c0020t0050g0182 a0013c0020t0052g0183	2	210	0.0095	108	c.45+ others(123): Show c.45+8982_45+8983insGACTGTTGTGAGGTAAATCCATATAAAGCT CTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAA GCCCTGGAAAAAGCCTGTAGGGGAGAGA		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101254	G G	GGAGAGAC others(101): Show GGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGT AGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCC TGTAGGGGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0006 a0006	a0006c0068 a0006c0068	a0006c0068t0058 a0006c0068t0058	a0006c0068t0058g0194 a0006c0068t0058g0194	1	210	0.0048	108	c.45+ others(123): Show c.45+8982_45+8983insGACTGTTGTGAGGTTAATCCATATAAAGCC CTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAA GCCCTGGAAAAAGCCTGTAGGGGAGAGA		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101254	G G	GGAGAGAC others(101): Show GGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGT AGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGCC TGTAGGGGA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0006 a0006	a0006c0072 a0006c0072	a0006c0072t0036 a0006c0072t0036	a0006c0072t0036g0206 a0006c0072t0036g0206	1	210	0.0048	108	c.45+ others(123): Show c.45+8982_45+8983insGACTGTTGTGAGGTTAATCCATATAAAGCC CTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAA GCTCTGGAAAAAGCCTGTAGGGGAGAGA		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101254	G G	GGAGAGAC others(101): Show GGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGGAAAAGCCTGT AGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGCC TGTAGGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02717.hp2 HG02257.hp1 HG02280.hp2 HG02717.hp2	a0001 a0015 a0001 a0015	a0001c0011 a0015c0076 a0015c0077 a0001c0011 a0015c0076 a0015c0077	a0001c0011t0048 a0015c0076t0067 a0015c0077t0053 a0001c0011t0048 a0015c0076t0067 a0015c0077t0053	a0001c0011t0048g0179 a0015c0076t0067g0192 a0015c0077t0053g0181 a0001c0011t0048g0179 a0015c0076t0067g0192 a0015c0077t0053g0181	3	210	0.0143	108	c.45+ others(123): Show c.45+8982_45+8983insGACTGTTGTGAGGTTAATCCATATAAAGCT CTGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAA GCCCTGGAAAAAGCCTGTAGGGGAGAGA		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PNLDC1_chr6_159795276_159825704	159816155	A A	ACCCACCC others(101): Show ACCCACCCGCACACCCCCTCCCCTCCCCCCCCCACCTCCCCCTGCCCCAC CCACCACACCCCTCCCTGCCCCCCCACACCCCTCCCCGCCCCCCACACCC CTCCCCACC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	400	0.0025	108	c.106 others(125): Show c.1060+125_1060+126insACCCGCACACCCCCTCCCCTCCCCCCCC CACCTCCCCCTGCCCCACCCACCACACCCCTCCCTGCCCCCCCACACCCC TCCCCGCCCCCCACACCCCTCCCCACCCCC		PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18					INFO_REALIGN_3_PRIME	chr6	TogoVar
POLG_chr15_89311320_89339824	89325199	T T	TGAGAGAG others(101): Show TGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAG TGAGTGAGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	398	0.0025	108	c.194 others(125): Show c.1949+250_1949+251insTCTCACTCACTCACTCACTCACTCACTC ACTCTCTCACTCACTCACTCACTCACTCACTCACTCTCTCACTCACTCAC TCTCTCACTCACTCTCTCACTCACTCTCTC		POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22						chr15	TogoVar
POLG_chr15_89311320_89339824	89325199	T T	TGAGTGAG others(101): Show TGAGTGAGAGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAG TGAGTGAGA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0001 a0016c0028t0001	a0016c0028t0001g0188 a0016c0028t0001g0188	1	398	0.0025	108	c.194 others(125): Show c.1949+250_1949+251insTCTCACTCACTCACTCACTCACTCACTC ACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTCACTCAC TCTCTCACTCTCTCACTCACTCTCTCACTC		POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22						chr15	TogoVar
PPP1R16B_chr20_38800697_38928024	38895766	A A	ACTTCCTT others(101): Show ACTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCT CCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTTCCCT CCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	244	0.0041	108	c.467 others(121): Show c.467+96_467+97insTCCCTCCCTCCCTCCTTCCTTCTTTCTCTCCT CCCTTCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTC TCCTCCCTCCCTCCTTCCTTCTTTCT		PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38895781	T T	TCCTCCCT others(101): Show TCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTT TCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCT TCTTTCTTC	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	244	0.0041	108	c.467 others(123): Show c.467+105_467+106insCCCTCCTTCCTTCTTTCTCTCCTCCCTTCC TCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTTCCCTCCC TCCCTCCTTCCTTCTTTCTCTCCTCCCT		PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38895843	T T	TCCTCCTT others(101): Show TCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTTCCCT CCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTT CCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	244	0.0041	108	c.467 others(123): Show c.467+150_467+151insCTCCTCCCTTCCTCCTTCCTTCTTTCTTCC CTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTC TTCCCTCCCTCCCTCCTTCCTTCTTTCT		PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R9A_chr7_94902594_95301400	95112595	G G	GACTTGTG others(101): Show GACTTGTGCTTGTATGTTTAACAGAATACTATCCAATGGAAATAGTCTTG GAAATAGCAAAGTCATGGAATCAACCTAAGTATTCATCAATAGATGACTG GATAAAGAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0006 a0005c0006t0006	a0005c0006t0006g0208 a0005c0006t0006g0208	1	290	0.0035	108	c.152 others(127): Show c.1528+1206_1528+1313dupCTTGTGCTTGTATGTTTAACAGAATA CTATCCAATGGAAATAGTCTTGGAAATAGCAAAGTCATGGAATCAACCTA AGTATTCATCAATAGATGACTGGATAAAGAAA		PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP2R1B_chr11_111732877_111771389	111766393	T T	TCCCGCCC others(101): Show TCCCGCCCCGCGCCCAGGCCCCGCCCCGCGCCCAGGCCCCGCCCCGCGCC CAGGCCCCGCCCCGCGCCCAGGCCCCGCCCCGCGCCCAGGCCCCGCCCCG CGCCCAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG03516.hp2 HG02145.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0026 a0001c0001t0023 a0001c0001t0026	a0001c0001t0023g0024 a0001c0001t0026g0231 a0001c0001t0023g0024 a0001c0001t0026g0231	2	358	0.0056	108	c.-33 others(115): Show c.-33_-32insGCCTGGGCGCGGGGCGGGGCCTGGGCGCGGGGCGGGGC CTGGGCGCGGGGCGGGGCCTGGGCGCGGGGCGGGGCCTGGGCGCGGGGCG GGGCCTGGGCGCGGGGCGGG		PPP2R1B	ENSG00000137713.16	transcript	ENST00000527614.6	protein_coding					5		chr11	TogoVar
PPP2R2C_chr4_6315581_6477614	6336713	C C	CTCCCTCC others(101): Show CTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCT CCTTCCCTCCCTCCCTCCCTGCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTGCTTCCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01168.hp1 HG01168.hp2 others(4): Show HG00323.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01346.hp2 HG02486.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0072 a0001c0001t0001g0190 a0001c0001t0002g0090 others(4): Show a0001c0001t0001g0072 a0001c0001t0001g0190 a0001c0001t0002g0090 a0001c0002t0003g0071 a0001c0002t0003g0169 a0001c0002t0003g0218 a0001c0002t0003g0232	7	298	0.0235	108	c.791 others(125): Show c.791-2983_791-2982insTGGAAGCAGGGAGGGAGGGAGGGAGGGA GGGAGGGAAGCAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAGG GAAGGAGGGAGGGAGGGAGGGAAGGAGGGA		PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8						chr4	TogoVar
PRAM1_chr19_8485056_8507640	8499451	C C	CGGCTTCT others(101): Show CGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGA GGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCA GGCGGCGGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02976.hp2 HG02976.hp2	a0036 a0036	a0036c0046 a0036c0046	a0036c0046t0001 a0036c0046t0001	a0036c0046t0001g0121 a0036c0046t0001g0121	1	422	0.0024	108	c.249 others(115): Show c.249_356dupCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCC CGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTC ACTGACCTCCCCAAGAAGCC	p.Pro others(121): Show p.Pro119_Ser120insProProProGluValThrAspLeuProLysLy sProProProProGluValThrAspLeuProLysLysProProProProG luValThrAspLeuProLysLysPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	405/2195	356/2013	119/670			chr19	TogoVar
PRAM1_chr19_8485056_8507640	8499585	C C	CAGGCGGC others(101): Show CAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGC TTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTC AGTGAACTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02717.hp2 HG02717.hp2	a0051 a0051	a0051c0038 a0051c0038	a0051c0038t0001 a0051c0038t0001	a0051c0038t0001g0176 a0051c0038t0001g0176	1	422	0.0024	108	c.222 others(115): Show c.222_223insCAGTTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGA GGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCC CCAAGAAGCCCCCGCCGCCT	p.Pro others(119): Show p.Pro74_Glu75insGlnPheThrAspLeuProLysLysProProProP roGluValThrAspLeuProLysLysProProProProGluValThrAsp LeuProLysLysProProProPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	271/2195	222/2013	74/670			chr19	TogoVar
PRAM1_chr19_8485056_8507640	8499590	G G	GGCGGGGG others(101): Show GGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTT GGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGA ACTGAGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG01255.hp1 HG01978.hp2 others(14): Show HG00099.hp1 HG01255.hp1 HG01978.hp2 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02976.hp1 HG03041.hp2 HG03471.hp1 HG03579.hp2 HG03669.hp1 NA18906.hp2 NA19043.hp2 NA20300.hp1	a0009 a0016 a0025 others(6): Show a0009 a0016 a0025 a0033 a0047 a0048 a0064 a0065 a0066	a0009c0009 a0016c0021 a0016c0045 others(7): Show a0009c0009 a0016c0021 a0016c0045 a0025c0019 a0033c0035 a0047c0043 a0048c0044 a0064c0068 a0065c0081 a0066c0080	a0009c0009t0001 a0016c0021t0003 a0016c0045t0001 others(7): Show a0009c0009t0001 a0016c0021t0003 a0016c0045t0001 a0025c0019t0001 a0033c0035t0002 a0047c0043t0001 a0048c0044t0001 a0064c0068t0002 a0065c0081t0002 a0066c0080t0002	a0009c0009t0001g0104 a0009c0009t0001g0105 a0009c0009t0001g0106 others(11): Show a0009c0009t0001g0104 a0009c0009t0001g0105 a0009c0009t0001g0106 a0009c0009t0001g0107 a0009c0009t0001g0115 a0016c0021t0003g0023 a0016c0045t0001g0120 a0025c0019t0001g0042 a0033c0035t0002g0053 a0047c0043t0001g0066 a0048c0044t0001g0067 a0064c0068t0002g0196 a0065c0081t0002g0248 a0066c0080t0002g0257	17	422	0.0403	108	c.217 others(115): Show c.217_218insAGCCTCAGTTCACTGACCTCCCCAAGAAGCCCCCGCCG CCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGA CCTCCCCAAGAAGCCCCCGC	p.Pro others(119): Show p.Pro72_Pro73insGlnProGlnPheThrAspLeuProLysLysProP roProProGluValThrAspLeuProLysLysProProProProGluVal ThrAspLeuProLysLysProPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	266/2195	217/2013	73/670			chr19	TogoVar
PRDM12_chr9_130659594_130687983	130680659	A A	ATAAATAT others(101): Show ATAAATATATATATATATATATAAATATATATATATATATATATAAATAT ATATATATATATATATATATAAATATATATATATATATATATATATATTT TTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0316 a0002c0001t0005g0316	1	392	0.0026	108	c.683 others(123): Show c.683-588_683-587insAAATATATATATATATATATAAATATATAT ATATATATATATAAATATATATATATATATATATATATAAATATATATAT ATATATATATATATATTTTTTTTTTTTT		PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr9	TogoVar
PRDM16_chr1_3064203_3443621	3181552	G G	GGCCTTAC others(101): Show GGCCTTACGCATGGTCTTACACACGCAGTCTTACACACGGTCTTACACAC GCAGTCTTACACAAGCAGTCTTACACACAGTCTTACACACGGTCTTACAC GGTCTTACA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0009 a0002c0003t0006g0009	1	210	0.0048	108	c.38- others(123): Show c.38-4573_38-4572insGCCTTACGCATGGTCTTACACACGCAGTCT TACACACGGTCTTACACACGCAGTCTTACACAAGCAGTCTTACACACAGT CTTACACACGGTCTTACACGGTCTTACA		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16						chr1	TogoVar
PRICKLE3_chrX_49169802_49191373	49181565	G G	GTATATGT others(101): Show GTATATGTACGTGTATATATATACGTATATATATATACGTATATGTACGT GTATATATATACGTATATATATATACGCGTATATATATACGTATATATAT ACGCGTGTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01884.hp1 others(9): Show HG00741.hp2 HG01070.hp1 HG01884.hp1 HG02280.hp2 HG02647.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03130.hp1 HG03195.hp2 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0031 a0001c0001t0002g0052 others(2): Show a0001c0001t0002g0005 a0001c0001t0002g0031 a0001c0001t0002g0052 a0001c0001t0002g0105 a0001c0001t0002g0125	12	273	0.0440	108	c.313 others(125): Show c.313-1760_313-1759insTACACGCGTATATATATACGTATATATA TACGCGTATATATATATACGTATATATATACACGTACATATACGTATATA TATATACGTATATATATACACGTACATATA		PRICKLE3	ENSG00000012211.13	transcript	ENST00000599218.6	protein_coding	3/8						chrX	TogoVar
PRKAG2_chr7_151551127_151882115	151820391	G G	GGGCCTGG others(101): Show GGGCCTGGCCCCTGTGGCTTCTGCAGGGCACACTCTACTCGGAACACCGC TCCGTGGCCTGGCCCCTGTGGCTTCTGCAGGGCACACTCTACTCGGAACA CCGCTCCGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp1 HG01243.hp2 others(7): Show HG00408.hp2 HG00673.hp1 HG01243.hp2 HG02135.hp1 HG03927.hp1 NA18994.hp2 NA18999.hp1 NA19011.hp2 NA19060.hp1 NA20752.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0004 a0006c0012 a0001c0001 a0002c0004 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0004t0003 a0006c0012t0006	a0001c0001t0001g0028 a0001c0001t0002g0047 a0001c0001t0002g0094 others(7): Show a0001c0001t0001g0028 a0001c0001t0002g0047 a0001c0001t0002g0094 a0001c0001t0002g0195 a0001c0001t0003g0056 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0191 a0002c0004t0003g0121 a0006c0012t0006g0149	10	252	0.0397	108	c.115 others(127): Show c.115-33851_115-33850insACGGAGCGGTGTTCCGAGTAGAGTGT GCCCTGCAGAAGCCACAGGGGCCAGGCCACGGAGCGGTGTTCCGAGTAGA GTGTGCCCTGCAGAAGCCACAGGGGCCAGGCC		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15						chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151820654	C C	CGCTCCGT others(101): Show CGCTCCGTGGCCTGGCCCCTGTGGCTTCTGCAGGGCACACTCTACTCGGA ACACCGCTCCGTGGCCTGGCCCCTGTGGCTTCTGCAGGGCACACTCTACT CGGAACACT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01258.hp1 HG03654.hp2 others(1): Show HG00738.hp2 HG01258.hp1 HG03654.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0064 a0001c0001t0001g0088 a0001c0001t0001g0096 others(1): Show a0001c0001t0001g0064 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0027g0127	4	252	0.0159	108	c.115 others(127): Show c.115-34114_115-34113insAGTGTTCCGAGTAGAGTGTGCCCTGC AGAAGCCACAGGGGCCAGGCCACGGAGCGGTGTTCCGAGTAGAGTGTGCC CTGCAGAAGCCACAGGGGCCAGGCCACGGAGC		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15						chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151855222	C C	CCCTCCAC others(101): Show CCCTCCACACACACCACCCTCCACACACCACCCTCCACACACACCACCCT CCACACACACCACCCTCCACACACACCACCCTCCACACACCGCCCTCCAC ACACACCAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	252	0.0040	108	c.114 others(127): Show c.114+21284_114+21285insATGGTGTGTGTGGAGGGCGGTGTGTG GAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGA GGGTGGTGTGTGGAGGGTGGTGTGTGTGGAGG		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15						chr7	TogoVar
PRKCA_chr17_66297613_66815743	66336634	T T	TTATATAG others(101): Show TTATATAGTAAATTATTAAACATTTGCCTATATAGTAAATTATTAAACAT TTGCCTATATAGTAAATTATTAAACATTTGCCTATATAGTAAATTATTAA ACATTTGCC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0124 a0001c0001t0027g0124	1	178	0.0056	108	c.205 others(127): Show c.205+30560_205+30561insCTATATAGTAAATTATTAAACATTTG CCTATATAGTAAATTATTAAACATTTGCCTATATAGTAAATTATTAAACA TTTGCCTATATAGTAAATTATTAAACATTTGC		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799439	A A	ATGGTGGT others(101): Show ATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0169 a0001c0001t0020g0169	1	178	0.0056	108	c.185 others(127): Show c.1855-4420_1855-4419insGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799580	G G	GTGGTGGT others(101): Show GTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGACGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0118 a0001c0001t0025g0118	1	178	0.0056	108	c.185 others(127): Show c.1855-4291_1855-4290insGTGGTGGTGGTGATGGTAATGGTGGT GGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2121637	G G	GGTGGTTA others(101): Show GGTGGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0234	1	286	0.0035	108	c.335 others(127): Show c.335-13623_335-13622insGGTTAGGGTCATGGTGGTAGTTAGGA TCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCTGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2121780	T T	TGGTGGTT others(101): Show TGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGTTC ACGGTGGTGGTTAGGTTCGTGGTGGTGGTTAGGTTCGTGGTGGTGGTTAG GGTCACGGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	286	0.0035	108	c.335 others(127): Show c.335-13469_335-13468insGTGGCGGTGGTTAGGGTCACGGCGGT GGTTAGGTTCACGGTGGTGGTTAGGTTCGTGGTGGTGGTTAGGTTCGTGG TGGTGGTTAGGGTCACGGCGGTGGTTAGGGTC		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122153	C C	CATGGTGG others(101): Show CATGGTGGTGGTTAGGTTCATGGTGGTGGTTAGGGTCACGGTGGTGGTTA GGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTGGTT AGGGTCACG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	286	0.0035	108	c.335 others(127): Show c.335-13109_335-13108insATGGTGGTGGTTAGGTTCATGGTGGT GGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGG TGGTTAGGGTCATGGTGGTGGTTAGGGTCACG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122898	G G	GGTAGTTA others(101): Show GGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGCGGTAGTTAGG ATCATGGCT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0062 a0001c0003t0001g0062	1	286	0.0035	108	c.335 others(127): Show c.335-12351_335-12350insTGGTGGTAGTTAGGGTCATGGTGGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGC GGTAGTTAGGATCATGGCTGTAGTTAGGGTCA		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123049	T T	TGGTGGTT others(101): Show TGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTC ATGGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAG GGTCACGGC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	286	0.0035	108	c.335 others(127): Show c.335-12163_335-12162insTGGTGGTGGTTAGGGTCACGGTGGTA GTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGT GGTAGTTAGGGTCACGGTGGTGGTTAGGGTCA		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123660	C C	CGGCTGTA others(101): Show CGGCTGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	286	0.0035	108	c.335 others(127): Show c.335-11600_335-11599insCTGTAGTTAGGGTCATGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123797	G G	GTCATGGT others(101): Show GTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGT TAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCGTGGTGG TTAGGTTCA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	286	0.0035	108	c.335 others(127): Show c.335-11464_335-11463insCATGGTGGTAGTTAGGGTCACGGCTA TAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATG GTGGTAGTTAGGGTCGTGGTGGTTAGGTTCAT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123860	A A	AGGTTCAT others(101): Show AGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTATAGTTG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0227 a0001c0003t0001g0227	1	286	0.0035	108	c.335 others(127): Show c.335-11400_335-11399insTTCATGGTGGTAGTTAGGGTCACGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGCTATAGTTGGG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124224	C C	CGGCTGTA others(101): Show CGGCTGTAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGG GTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTGGT TAGGGTCAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	286	0.0035	108	c.335 others(127): Show c.335-11036_335-11035insCTGTAGTTAGCATCATGGTGGTAGTT AGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGTGGTGGTTAGGGTCATGG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124353	C C	CTGTAGTT others(101): Show CTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCTATAGTTGGGGTC ATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGCGTCATGGTGGTAGTTAG GGTCATGGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	286	0.0035	108	c.335 others(127): Show c.335-10909_335-10908insTGTAGTTAGGGTCATGGTGGTAGTTG GGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTA GTTAGCGTCATGGTGGTAGTTAGGGTCATGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar

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