Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PARP14_chr3_122675839_122735840	122726893	T T	TAATTTTA others(311): Show TAATTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0227 a0001c0005t0003g0227	1	366	0.0027	318	c.494 others(335): Show c.4942-912_4942-911insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTA	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PATJ_chr1_61737480_62168915	62108326	T T	TAAAATAT others(311): Show TAAAATATAACATTATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02523.hp1 HG02040.hp1 HG02523.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0011 a0003c0009t0011	a0003c0009t0011g0038 a0003c0009t0011g0065 a0003c0009t0011g0038 a0003c0009t0011g0065	2	158	0.0127	318	c.437 others(333): Show c.4378-95_4378-94insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAATATAACATTATT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PCBP3_chr21_45638725_45947450	45746666	C C	CACACGGT others(311): Show CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTGGTGTCAGCATCGCC GTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTG TCAGTCCACTGACGTAGCG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	292	0.0034	318	c.-16 others(337): Show c.-161-8751_-161-8750insACACGGTGGTGTCAGCATCGCCGTGT CAGTCCACTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTC CATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTG ACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTA GCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCA CACGGTGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACAC GGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17			chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746666	C C	CACACGGT others(311): Show CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTGGTGTCAGCATCGCC GTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTG TCAGTCCACTGACGTAGCG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	292	0.0034	318	c.-16 others(337): Show c.-161-8751_-161-8750insACACGGTGGTGTCAGCATCGCCGTGT CAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTC CATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTG ACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTA GCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCA CACGGTGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACAC GGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17			chr21	TogoVar
PCGF3_chr4_700832_775089	727735	T T	TAAAAAGG others(311): Show TAAAAAGGATGACTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0114 a0001c0001t0026g0114	1	366	0.0027	318	c.-18 others(337): Show c.-189-2881_-189-2880insGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTG GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGATGACTA	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	759662	T T	TTCCGGAC others(311): Show TTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGCTCTTC TCGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTC TTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAG TTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCC GAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCTCGCGGCCCCTCT CCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCTCGCGGCCCC TCTCCCGAGCTCTTCTCGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00558.hp1 others(28): Show HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG01081.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG02074.hp2 NA18943.hp2 NA18948.hp2 NA18957.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19004.hp1 NA19055.hp1 NA19056.hp1 NA19066.hp1 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0005 a0001c0003t0010 a0001c0003t0015 others(3): Show a0001c0003t0005 a0001c0003t0010 a0001c0003t0015 a0001c0003t0029 a0001c0003t0032 a0002c0007t0055	a0001c0003t0005g0001 a0001c0003t0005g0121 a0001c0003t0005g0122 others(27): Show a0001c0003t0005g0001 a0001c0003t0005g0121 a0001c0003t0005g0122 a0001c0003t0005g0123 a0001c0003t0005g0124 a0001c0003t0005g0126 a0001c0003t0005g0133 a0001c0003t0005g0135 a0001c0003t0005g0136 a0001c0003t0005g0137 a0001c0003t0005g0138 a0001c0003t0005g0139 a0001c0003t0005g0141 a0001c0003t0005g0142 a0001c0003t0005g0143 a0001c0003t0005g0222 a0001c0003t0005g0307 a0001c0003t0005g0310 a0001c0003t0010g0311 a0001c0003t0010g0345 a0001c0003t0010g0346 a0001c0003t0015g0004 a0001c0003t0015g0084 a0001c0003t0015g0085 a0001c0003t0015g0103 a0001c0003t0029g0130 a0001c0003t0029g0131 a0001c0003t0032g0095 a0001c0003t0032g0109 a0002c0007t0055g0140	31	366	0.0847	318	c.463 others(335): Show c.463-1574_463-1573insCTCTTCTCGCTCCGGACTCCGGGTCTTT CTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTC TTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGG GTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTC CGGGTCTTTCTCCCCTCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGA CTCCGGGTCTTTCTCCCCTCGCGGCCCCTCTCCCGAGCTCTTCTCGCTCC GGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCLO_chr7_82749012_83167884	82801192	A A	AATATACG others(311): Show AATATACGTTATATATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGATGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0064 a0064	a0064c0108 a0064c0108	a0064c0108t0001 a0064c0108t0001	a0064c0108t0001g0070 a0064c0108t0001g0070	1	188	0.0053	318	c.150 others(337): Show c.15007+325_15007+326insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCATCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAATATATAACGTATAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	22/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	82801192	A A	AATATACG others(311): Show AATATACGTTATATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01081.hp1 HG02165.hp1 others(5): Show HG00597.hp2 HG01081.hp1 HG02165.hp1 NA18981.hp1 NA19068.hp1 NA19070.hp2 NA19088.hp1 NA20752.hp1	a0002 a0010 a0024 a0002 a0010 a0024	a0002c0004 a0002c0064 a0010c0093 others(1): Show a0002c0004 a0002c0064 a0010c0093 a0024c0025	a0002c0004t0004 a0002c0004t0007 a0002c0064t0009 others(2): Show a0002c0004t0004 a0002c0004t0007 a0002c0064t0009 a0010c0093t0007 a0024c0025t0009	a0002c0004t0004g0145 a0002c0004t0007g0085 a0002c0004t0007g0097 others(5): Show a0002c0004t0004g0145 a0002c0004t0007g0085 a0002c0004t0007g0097 a0002c0004t0007g0108 a0002c0004t0007g0141 a0002c0064t0009g0031 a0010c0093t0007g0171 a0024c0025t0009g0063	8	188	0.0426	318	c.150 others(337): Show c.15007+325_15007+326insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAATATAACGTATAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	22/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	82801192	A A	AATATACG others(311): Show AATATACGTTATATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGATGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG00621.hp2 others(30): Show HG00099.hp1 HG00544.hp2 HG00621.hp2 HG00735.hp1 HG01123.hp1 HG01192.hp2 HG01257.hp2 HG01361.hp2 HG01496.hp1 HG01952.hp1 HG02155.hp2 HG02280.hp1 HG02300.hp2 HG03491.hp1 HG03688.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18953.hp2 NA18984.hp2 NA18993.hp2 NA19010.hp2 NA19012.hp1 NA19057.hp1 NA19070.hp1 NA19085.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0002 a0004 a0005 others(15): Show a0002 a0004 a0005 a0010 a0011 a0015 a0025 a0027 a0028 a0029 a0035 a0041 a0049 a0050 a0055 a0057 a0062 a0068	a0002c0007 a0002c0062 a0004c0002 others(17): Show a0002c0007 a0002c0062 a0004c0002 a0005c0005 a0010c0011 a0011c0027 a0011c0040 a0015c0095 a0025c0012 a0027c0088 a0028c0089 a0029c0086 a0035c0043 a0041c0036 a0049c0058 a0050c0054 a0055c0080 a0057c0055 a0062c0106 a0068c0101	a0002c0007t0001 a0002c0062t0001 a0004c0002t0001 others(20): Show a0002c0007t0001 a0002c0062t0001 a0004c0002t0001 a0004c0002t0027 a0004c0002t0031 a0005c0005t0001 a0005c0005t0028 a0010c0011t0001 a0011c0027t0001 a0011c0040t0001 a0015c0095t0001 a0025c0012t0001 a0027c0088t0001 a0028c0089t0001 a0029c0086t0001 a0035c0043t0004 a0041c0036t0001 a0049c0058t0001 a0050c0054t0001 a0055c0080t0001 a0057c0055t0001 a0062c0106t0001 a0068c0101t0001	a0002c0007t0001g0020 a0002c0007t0001g0100 a0002c0007t0001g0135 others(30): Show a0002c0007t0001g0020 a0002c0007t0001g0100 a0002c0007t0001g0135 a0002c0007t0001g0142 a0002c0062t0001g0090 a0004c0002t0001g0016 a0004c0002t0001g0019 a0004c0002t0001g0083 a0004c0002t0001g0096 a0004c0002t0001g0105 a0004c0002t0001g0106 a0004c0002t0027g0149 a0004c0002t0031g0014 a0005c0005t0001g0168 a0005c0005t0001g0172 a0005c0005t0028g0153 a0010c0011t0001g0163 a0010c0011t0001g0164 a0011c0027t0001g0046 a0011c0040t0001g0043 a0015c0095t0001g0187 a0025c0012t0001g0154 a0027c0088t0001g0156 a0028c0089t0001g0169 a0029c0086t0001g0157 a0035c0043t0004g0044 a0041c0036t0001g0041 a0049c0058t0001g0086 a0050c0054t0001g0129 a0055c0080t0001g0084 a0057c0055t0001g0151 a0062c0106t0001g0069 a0068c0101t0001g0054	33	188	0.1755	318	c.150 others(337): Show c.15007+325_15007+326insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCATCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAATATAACGTATAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	22/24			chr7	TogoVar
PCNX2_chr1_232978435_233300725	233206359	C C	CAAAAAGA others(311): Show CAAAAAGAAGATGGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	146	0.0069	318	c.286 others(337): Show c.2863+2158_2863+2159insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCGCCATCTTCTTTTT	PCNX2	ENSG00000135749.20	transcript	ENST00000258229.14	protein_coding	13/33			chr1	TogoVar
PCOLCE2_chr3_142812874_142894083	142886375	T T	TAAAACAC others(311): Show TAAAACACAATCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	342	0.0029	318	c.192 others(335): Show c.192+1293_192+1294insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCTGCTACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGTGATTGTGTTTT	PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding	2/8			chr3	TogoVar
PDE10A_chr6_165322289_165668241	165619387	G G	GTGTAGCC others(311): Show GTGTAGCCTAGTGTAGTGTAGGCTAGGGTAGGCTAGTGTAGGCTAGTGTA GTGTAGTAGTGTAGTCTAGTGTAGTGTAGTCTAGTGTAGTCTAGTATAGT GTAGTGTAGTCTAGTGTACTGTAGTGTAGTATAGTGTAGTCTAGTGTGGT GTGGTGTGGTGTAGTGTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAGT GCAGTGTAGTCTAGTGTAGTACAGTCTAGTGTAGTCTAGTATAGTGTAGT CCAGTGTAGTGTAGTATAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGT CTAGTGTAGTCTAGTGTAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02523.hp1 HG02132.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0101 a0001c0001t0001g0020 a0001c0001t0001g0101	2	222	0.0090	318	c.865 others(337): Show c.865+42559_865+42560insGTACACTAGACTACACTAGACTACAC TACACTACACTACAGTACACTAGACTATACTACACTACACTGGACTACAC TATACTAGACTACACTAGACTGTACTACACTAGACTACACTGCACTACAC TACAGTACACTAGACTACACTAGACTACACTACACCACACCACACCACAC TAGACTACACTATACTACACTACAGTACACTAGACTACACTACACTATAC TAGACTACACTAGACTACACTACACTAGACTACACTACTACACTACACTA GCCTACACTAGCCTACCCTAGCCTACACTACACTAGGCTACA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PDE8B_chr5_77205680_77433256	77420370	T T	TAAAACCT others(311): Show TAAAACCTACTCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0082 a0001c0001t0014g0082	1	314	0.0032	318	c.225 others(335): Show c.2250+497_2250+498insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAACCTACTCATG	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDSS1_chr10_26692701_26751798	26751417	G G	GAAAGAAT others(311): Show GAAAGAATCCCCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01361.hp2 HG02056.hp1 others(13): Show HG01346.hp1 HG01361.hp2 HG02056.hp1 HG02083.hp1 HG02165.hp1 HG03490.hp1 HG03492.hp1 HG04115.hp2 NA18946.hp2 NA18956.hp2 NA18971.hp1 NA18981.hp1 NA18984.hp2 NA18993.hp2 NA19083.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0061 a0001c0001t0001g0066 others(13): Show a0001c0001t0001g0045 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0201 a0001c0001t0001g0228 a0001c0001t0001g0294	16	416	0.0385	318	c.49 others(329): Show c.4944_*4945insAAAGAATCCCCCTGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4620		chr10	TogoVar
PDZRN4_chr12_41183320_41579745	41429793	T T	TCTTATTT others(311): Show TCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03209.hp2 HG06807.hp1 HG02976.hp2 HG03209.hp2 HG06807.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0013 a0002c0016 a0011c0047 a0001c0013 a0002c0016 a0011c0047	a0001c0013t0001 a0002c0016t0001 a0011c0047t0001 a0001c0013t0001 a0002c0016t0001 a0011c0047t0001	a0001c0013t0001g0085 a0002c0016t0001g0101 a0011c0047t0001g0139 a0001c0013t0001g0085 a0002c0016t0001g0101 a0011c0047t0001g0139	3	206	0.0146	318	c.844 others(337): Show c.844-76653_844-76652insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCG CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTTATTTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX11G_chr19_7471875_7494035	7471971	G G	GTGTTTTG others(311): Show GTGTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0010 a0001c0003t0001g0010	1	416	0.0024	318	c.52 others(329): Show c.5230_*5231insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAATACAAAACA	PEX11G	ENSG00000104883.8	transcript	ENST00000221480.6	protein_coding		4903		chr19	TogoVar
PEX11G_chr19_7471875_7494035	7471972	T T	TGTTTTGT others(311): Show TGTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA21309.hp1 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0120 a0001c0003t0001g0041 a0001c0002t0001g0120 a0001c0003t0001g0041	2	416	0.0048	318	c.52 others(329): Show c.5229_*5230insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAATACAAAAC	PEX11G	ENSG00000104883.8	transcript	ENST00000221480.6	protein_coding		4902		chr19	TogoVar
PHACTR4_chr1_28364740_28505364	28419029	T T	TCTACTTT others(311): Show TCTACTTTTATGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAG GCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03209.hp2 HG03516.hp2 others(2): Show HG02970.hp2 HG03209.hp2 HG03516.hp2 NA18522.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0037 a0002c0002t0043 others(2): Show a0002c0002t0007 a0002c0002t0037 a0002c0002t0043 a0002c0002t0046 a0002c0002t0048	a0002c0002t0007g0003 a0002c0002t0037g0150 a0002c0002t0043g0153 others(2): Show a0002c0002t0007g0003 a0002c0002t0037g0150 a0002c0002t0043g0153 a0002c0002t0046g0125 a0002c0002t0048g0152	5	228	0.0219	318	c.16+ others(335): Show c.16+11585_16+11586insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCTACTTTTATGATTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHF2_chr9_93571584_93684587	93609090	T T	TGTAGTGG others(311): Show TGTAGTGGTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0122 a0001c0001t0015g0122	1	350	0.0029	318	c.99- others(335): Show c.99-20880_99-20879insGTAGTGGTTGTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC GATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGG CTAATTTTTTGTATTTTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC CAGAATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21			chr9	TogoVar
PHF2_chr9_93571584_93684587	93609090	T T	TTAGTGGT others(311): Show TTAGTGGTTGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	350	0.0029	318	c.99- others(335): Show c.99-20879_99-20878insAGTGGTTGTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGC TAATTTTTTGTATTTTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCC AGAATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHF2_chr9_93571584_93684587	93609090	T T	TTTAGTGG others(311): Show TTTAGTGGTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00438.hp2 others(42): Show HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01192.hp2 HG01256.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp2 HG01928.hp1 HG01978.hp2 HG01993.hp2 HG02056.hp2 HG02080.hp1 HG02155.hp1 HG02273.hp1 HG02486.hp1 HG02735.hp1 HG03490.hp1 HG03669.hp2 HG04228.hp1 NA18941.hp2 NA18954.hp2 NA18959.hp2 NA18967.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19057.hp2 NA19064.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0020 a0002c0002 a0001c0001 a0001c0020 a0002c0002	a0001c0001t0002 a0001c0001t0011 a0001c0001t0021 others(4): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0020t0002 a0002c0002t0001	a0001c0001t0002g0027 a0001c0001t0002g0051 a0001c0001t0002g0052 others(42): Show a0001c0001t0002g0027 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0157 a0001c0001t0002g0185 a0001c0001t0002g0225 a0001c0001t0011g0232 a0001c0001t0011g0243 a0001c0001t0021g0272 a0001c0001t0022g0314 a0001c0001t0024g0129 a0001c0020t0002g0128 a0002c0002t0001g0050	45	350	0.1286	318	c.99- others(335): Show c.99-20866_99-20865insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTAT TTTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTTAGTGGTTGTTTT	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHF2_chr9_93571584_93684587	93609090	T T	TTTAGTGG others(311): Show TTTAGTGGTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTTTT TAGTGGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	350	0.0029	318	c.99- others(335): Show c.99-20866_99-20865insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTAT TTTTTTTTAGTGGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTTAGTGGTTGTTTT	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHTF2_chr7_77793773_77962225	77936706	T T	TAAAAATA others(311): Show TAAAAATACACTAGAAAGGCCGGGCGCGTTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCCAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCC ATCTCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03017.hp1 HG03491.hp2 others(9): Show HG02135.hp1 HG03017.hp1 HG03491.hp2 HG03492.hp1 NA18747.hp1 NA18943.hp2 NA18954.hp2 NA18969.hp1 NA18978.hp1 NA19062.hp2 NA19066.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 others(9): Show a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0045 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0054	12	314	0.0382	318	c.123 others(335): Show c.1237-988_1237-987insGGCCGGGCGCGTTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCCAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAG ACTCCATCTCAAAAAAAAAAAAAAAAAAATACACTAGAAA	PHTF2	ENSG00000006576.17	transcript	ENST00000422959.8	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
PIAS4_chr19_4002736_4044386	4026295	G G	GCTAATTT others(311): Show GCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02896.hp2 HG02897.hp1 others(2): Show HG01891.hp2 HG02896.hp2 HG02897.hp1 HG03516.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0004 a0001c0004t0004 a0001c0002t0004 a0001c0004t0004	a0001c0002t0004g0157 a0001c0002t0004g0167 a0001c0002t0004g0175 others(2): Show a0001c0002t0004g0157 a0001c0002t0004g0167 a0001c0002t0004g0175 a0001c0004t0004g0248 a0001c0004t0004g0249	5	334	0.0150	318	c.540 others(335): Show c.540-1842_540-1841insTTTTTTTTTTTTTTTTTTTTTTTTTTTT GGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAA TTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAATTTTT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIGL_chr17_16212210_16331411	16330606	C C	CAAGACCA others(311): Show CAAGACCATCCTGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCAGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02630.hp1 HG02055.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0076 a0001c0001t0002g0038 a0001c0001t0002g0076	2	246	0.0081	318	c.47 others(329): Show c.4708_*4709insAAGACCATCCTGGTTGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCAGGCGAGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGC CTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding		4196		chr17	TogoVar
PIGL_chr17_16212210_16331411	16330606	C C	CAAGACCA others(311): Show CAAGACCATCCTGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCCAGCGGGCGGAGCCTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0052 a0002c0002t0002g0052	1	246	0.0041	318	c.47 others(329): Show c.4708_*4709insAAGACCATCCTGGTTGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGCGGGCGGAGC CTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding		4196		chr17	TogoVar
PIGL_chr17_16212210_16331411	16330606	C C	CAAGACCA others(311): Show CAAGACCATCCTGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00642.hp1 others(43): Show HG00280.hp1 HG00408.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02015.hp2 HG02083.hp1 HG02155.hp2 HG02273.hp2 HG02698.hp2 HG02735.hp2 HG02970.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03688.hp1 HG03927.hp1 NA18949.hp1 NA18953.hp2 NA18960.hp2 NA18979.hp2 NA18998.hp2 NA18999.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 others(43): Show a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0104 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0155 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0206	46	246	0.1870	318	c.47 others(329): Show c.4708_*4709insAAGACCATCCTGGTTGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGC CTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding		4196		chr17	TogoVar
PIGL_chr17_16212210_16331411	16330606	C C	CAAGACCA others(311): Show CAAGACCATCCTGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	246	0.0041	318	c.47 others(329): Show c.4708_*4709insAAGACCATCCTGGTTGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGC CTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding		4196		chr17	TogoVar
PIK3C2G_chr12_18256518_18653416	18529123	A A	AGATGACT others(311): Show AGATGACTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02896.hp1 HG03130.hp1 others(2): Show HG02622.hp2 HG02896.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0009	a0002c0009 a0002c0014 a0004c0012 others(2): Show a0002c0009 a0002c0014 a0004c0012 a0005c0006 a0009c0044	a0002c0009t0002 a0002c0014t0002 a0004c0012t0002 others(2): Show a0002c0009t0002 a0002c0014t0002 a0004c0012t0002 a0005c0006t0001 a0009c0044t0002	a0002c0009t0002g0019 a0002c0014t0002g0052 a0004c0012t0002g0136 others(2): Show a0002c0009t0002g0019 a0002c0014t0002g0052 a0004c0012t0002g0136 a0005c0006t0001g0070 a0009c0044t0002g0080	5	176	0.0284	318	c.332 others(337): Show c.3324-9018_3324-9017insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGATGACTGTTTCTTT	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	24/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3C2G_chr12_18256518_18653416	18529123	A A	AGATGACT others(311): Show AGATGACTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG06807.hp1 HG01081.hp2 HG06807.hp1	a0011 a0015 a0011 a0015	a0011c0018 a0015c0049 a0011c0018 a0015c0049	a0011c0018t0003 a0015c0049t0002 a0011c0018t0003 a0015c0049t0002	a0011c0018t0003g0117 a0015c0049t0002g0044 a0011c0018t0003g0117 a0015c0049t0002g0044	2	176	0.0114	318	c.332 others(337): Show c.3324-9018_3324-9017insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGATGACTGTTTCTTT	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	24/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIR_chrX_15379799_15498333	15401360	G G	GTAAACCT others(311): Show GTAAACCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03041.hp1 HG02809.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0104 a0001c0001t0001g0105	2	272	0.0074	318	c.611 others(335): Show c.611-3830_611-3829insTCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAA GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAG TCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGTTTA	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	7/9			chrX	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(311): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGGAA GGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAA GGAAGGAAGAAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0129 a0001c0022t0001g0129	1	134	0.0075	318	c.575 others(339): Show c.5751+20407_5751+20408insTCCTTCCTTTCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTT CTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCC TTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCC CTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	52064864	G G	GAAAGAAT others(311): Show GAAAGAATTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGT GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02486.hp1 HG03041.hp1 HG01255.hp1 HG02486.hp1 HG03041.hp1	a0002 a0006 a0045 a0002 a0006 a0045	a0002c0079 a0006c0076 a0045c0084 a0002c0079 a0006c0076 a0045c0084	a0002c0079t0007 a0006c0076t0005 a0045c0084t0006 a0002c0079t0007 a0006c0076t0005 a0045c0084t0006	a0002c0079t0007g0089 a0006c0076t0005g0088 a0045c0084t0006g0087 a0002c0079t0007g0089 a0006c0076t0005g0088 a0045c0084t0006g0087	3	134	0.0224	318	c.976 others(331): Show c.976+90_976+91insTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG TATTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTGAATTCTTT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	13/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	52064864	G G	GAAAGAAT others(311): Show GAAAGAATTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGT GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0077 a0002c0077	a0002c0077t0002 a0002c0077t0002	a0002c0077t0002g0102 a0002c0077t0002g0102	1	134	0.0075	318	c.976 others(331): Show c.976+90_976+91insTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG TATTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTTGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCAGCCTGAATTCTTT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	13/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	52064864	G G	GAAAGAAT others(311): Show GAAAGAATTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGATTGT GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0017 a0017	a0017c0089 a0017c0089	a0017c0089t0002 a0017c0089t0002	a0017c0089t0002g0116 a0017c0089t0002g0116	1	134	0.0075	318	c.976 others(331): Show c.976+90_976+91insTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCTC ACTGCAAGCTCTGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG TATTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCAGCCTGAATTCTTT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	13/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	52064864	G G	GAAAGAAT others(311): Show GAAAGAATTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCAAGATTGT GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02970.hp2 HG03471.hp1 HG02965.hp1 HG02970.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0082 a0002c0020 a0001c0001 a0001c0082 a0002c0020	a0001c0001t0001 a0001c0082t0001 a0002c0020t0008 a0001c0001t0001 a0001c0082t0001 a0002c0020t0008	a0001c0001t0001g0060 a0001c0082t0001g0105 a0002c0020t0008g0110 a0001c0001t0001g0060 a0001c0082t0001g0105 a0002c0020t0008g0110	3	134	0.0224	318	c.976 others(331): Show c.976+90_976+91insTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTTGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG TATTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCAGCCTGAATTCTTT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	13/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	52064864	G G	GAAAGAAT others(311): Show GAAAGAATTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGT GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp1 HG01081.hp2 others(25): Show HG00738.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01952.hp2 HG02040.hp2 HG02155.hp2 HG02280.hp1 HG02451.hp2 HG02622.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03239.hp1 HG03704.hp1 NA18964.hp1 NA18971.hp1 NA18975.hp1 NA18989.hp2 NA19001.hp1 NA19005.hp2 NA19007.hp2	a0001 a0002 a0006 others(12): Show a0001 a0002 a0006 a0009 a0013 a0016 a0026 a0027 a0029 a0035 a0036 a0040 a0041 a0044 a0046	a0001c0002 a0001c0009 a0001c0019 others(16): Show a0001c0002 a0001c0009 a0001c0019 a0002c0004 a0002c0020 a0002c0080 a0006c0078 a0009c0087 a0013c0095 a0016c0090 a0026c0073 a0027c0069 a0029c0070 a0035c0086 a0036c0074 a0040c0081 a0041c0088 a0044c0075 a0046c0067	a0001c0002t0001 a0001c0002t0009 a0001c0009t0001 others(18): Show a0001c0002t0001 a0001c0002t0009 a0001c0009t0001 a0001c0019t0001 a0002c0004t0003 a0002c0004t0010 a0002c0020t0003 a0002c0080t0002 a0006c0078t0005 a0009c0087t0001 a0013c0095t0014 a0016c0090t0001 a0026c0073t0005 a0027c0069t0018 a0029c0070t0008 a0035c0086t0001 a0036c0074t0003 a0040c0081t0001 a0041c0088t0006 a0044c0075t0001 a0046c0067t0003	a0001c0002t0001g0083 a0001c0002t0001g0113 a0001c0002t0001g0117 others(25): Show a0001c0002t0001g0083 a0001c0002t0001g0113 a0001c0002t0001g0117 a0001c0002t0009g0099 a0001c0002t0009g0100 a0001c0009t0001g0103 a0001c0009t0001g0106 a0001c0009t0001g0123 a0001c0019t0001g0097 a0001c0019t0001g0118 a0002c0004t0003g0085 a0002c0004t0003g0126 a0002c0004t0010g0101 a0002c0020t0003g0084 a0002c0080t0002g0121 a0006c0078t0005g0104 a0009c0087t0001g0111 a0013c0095t0014g0122 a0016c0090t0001g0120 a0026c0073t0005g0094 a0027c0069t0018g0092 a0029c0070t0008g0090 a0035c0086t0001g0109 a0036c0074t0003g0108 a0040c0081t0001g0124 a0041c0088t0006g0114 a0044c0075t0001g0119 a0046c0067t0003g0112	28	134	0.2090	318	c.976 others(331): Show c.976+90_976+91insTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG TATTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCAGCCTGAATTCTTT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	13/66			chr6	TogoVar
PKN2_chr1_88679273_88841255	88753699	T T	TACACACT others(311): Show TACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0033 a0001c0005t0009g0033	1	330	0.0030	318	c.350 others(335): Show c.350-6513_350-6512insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCT TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGACACACTTTT	PKN2	ENSG00000065243.20	transcript	ENST00000370521.8	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLD1_chr3_171595404_171815483	171601495	T T	TAAAAACA others(311): Show TAAAAACATTCATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0026 a0001c0021t0026	a0001c0021t0026g0082 a0001c0021t0026g0082	1	294	0.0034	318	c.15 others(329): Show c.1582_*1583insTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAAAATGAATGTTTTT	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	27/27	1582		chr3	TogoVar
PLD5_chr1_242077986_242529697	242394969	T T	TTATATAT others(311): Show TTATATATGAATATATATGATTATATATGAATATATATGAATATATATGA ATATATAAATATATATGAATATATATGAATATATATGATTATATATATGA ATATATATGAATATATATGAATATATATGATTATATATATGAATATATAT GAATATTTATGATTATATATATGAATATATATGAATATATATGAATATAT AAATATATATGAATATATATGAATATATATGATTATATATATGAATATAT ATGATTATATATATGAATATATATGAATATATGATTATATATATGAATAT ATATGAATATATATGATTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03209.hp1 HG02145.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0063 a0001c0001t0001 a0001c0002t0063	a0001c0001t0001g0070 a0001c0002t0063g0127 a0001c0001t0001g0070 a0001c0002t0063g0127	2	188	0.0106	318	c.190 others(337): Show c.190-46728_190-46727insTAATCATATATATTCATATATATTCA TATATATAATCATATATTCATATATATTCATATATATAATCATATATATT CATATATATAATCATATATATTCATATATATTCATATATATTTATATATT CATATATATTCATATATATTCATATATATAATCATAAATATTCATATATA TTCATATATATAATCATATATATTCATATATATTCATATATATTCATATA TATAATCATATATATTCATATATATTCATATATATTTATATATTCATATA TATTCATATATATTCATATATAATCATATATATTCATATATA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLEKHA6_chr1_204213853_204364929	204269327	C C	CAGAAACC others(311): Show CAGAAACCTCATCTATTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA ATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCG AGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTC AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00621.hp1 others(59): Show HG00408.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01192.hp1 HG01358.hp2 HG01496.hp2 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp2 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG03490.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 NA18612.hp1 NA18940.hp2 NA18944.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18995.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19007.hp2 NA19065.hp2 NA19080.hp1 NA19081.hp1 NA19086.hp1 NA20905.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0001 a0003c0005 a0005c0010 others(1): Show a0001c0001 a0003c0005 a0005c0010 a0007c0020	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(18): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0045 a0001c0001t0048 a0001c0001t0051 a0003c0005t0001 a0003c0005t0039 a0005c0010t0004 a0005c0010t0049 a0007c0020t0017	a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0036 others(59): Show a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0076 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0100 a0001c0001t0002g0105 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0132 a0001c0001t0002g0146 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0004g0037 a0001c0001t0004g0039 a0001c0001t0004g0061 a0001c0001t0004g0071 a0001c0001t0004g0110 a0001c0001t0004g0118 a0001c0001t0004g0169 a0001c0001t0004g0220 a0001c0001t0006g0016 a0001c0001t0006g0049 a0001c0001t0006g0102 a0001c0001t0006g0172 a0001c0001t0006g0179 a0001c0001t0006g0233 a0001c0001t0014g0115 a0001c0001t0015g0011 a0001c0001t0015g0013 a0001c0001t0016g0123 a0001c0001t0017g0180 a0001c0001t0019g0055 a0001c0001t0019g0108 a0001c0001t0019g0182 a0001c0001t0026g0074 a0001c0001t0028g0107 a0001c0001t0029g0038 a0001c0001t0030g0081 a0001c0001t0033g0004 a0001c0001t0045g0064 a0001c0001t0048g0068 a0001c0001t0051g0101 a0003c0005t0001g0109 a0003c0005t0001g0130 a0003c0005t0001g0171 a0003c0005t0001g0175 a0003c0005t0001g0176 a0003c0005t0001g0227 a0003c0005t0039g0006 a0005c0010t0004g0181 a0005c0010t0049g0147 a0007c0020t0017g0165	62	270	0.2296	318	c.103 others(335): Show c.103-1016_103-1015insTTTTTTTTTTTTTTTTTTTGAGACGGAG TTTCGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCGACAATAGATGAGGTTTCT	PLEKHA6	ENSG00000143850.16	transcript	ENST00000272203.8	protein_coding	3/22			chr1	TogoVar
PLEKHG4B_chr5_87168_194966	100875	T T	TCTGTAGG others(311): Show TCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAA AAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGG GAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCC TGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAG CTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATA AAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCAT ATAAAGCTCTGGAAAAAGC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03195.hp2 HG03041.hp2 HG03195.hp2	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0018 a0006c0021t0056 a0006c0021t0018 a0006c0021t0056	a0006c0021t0018g0198 a0006c0021t0056g0199 a0006c0021t0018g0198 a0006c0021t0056g0199	2	210	0.0095	318	c.45+ others(333): Show c.45+8651_45+8652insCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT TAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101589	A A	AAATCCAT others(311): Show AAATCCATATAAAGCCCTGGGAAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAACCCTGGAAAAAGTCTGTAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGA CTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAG AGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGG GAGAGACTGTTGTGAGGTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0096 a0001c0049t0096	a0001c0049t0096g0063 a0001c0049t0096g0063	1	210	0.0048	318	c.45+ others(333): Show c.45+9380_45+9381insCCTGGAAAAAGTCTGTAGGGGAGAGACTGT TGTGAGGTTAATCCATATAAAACCCTGGAAAAAGTCTGTAGGGGAGAGAC TGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGA GACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGG AGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAG GGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGGAAAAGTCTG TAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLXDC2_chr10_19811432_20294856	19820738	T T	TAAAGAGG others(311): Show TAAAGAGGAATGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGACCCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp1 HG02647.hp1 HG03209.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0092 a0004c0004t0077 a0002c0002t0092 a0004c0004t0077	a0002c0002t0092g0078 a0004c0004t0077g0079 a0002c0002t0092g0078 a0004c0004t0077g0079	2	180	0.0111	318	c.112 others(335): Show c.112+3560_112+3561insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGACCCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGGAATGAG	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
POTEG_chr14_19397486_19439341	19426183	T T	TAAAACTC others(311): Show TAAAACTCACACTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTACCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0027 a0027	a0027c0017 a0027c0017	a0027c0017t0011 a0027c0017t0011	a0027c0017t0011g0003 a0027c0017t0011g0003	1	111	0.0090	318	c.811 others(333): Show c.811-472_811-471insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCATGGTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCCAGTGTGAGTTTT	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding	3/10			chr14	TogoVar
PPEF2_chr4_75854867_75907452	75861614	G G	GTTTTTTT others(311): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCAGTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	270	0.0037	318	c.200 others(335): Show c.2009-695_2009-694insAAAAACTGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	16/16			chr4	TogoVar
PPEF2_chr4_75854867_75907452	75861614	G G	GTTTTTTT others(311): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCAGTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01109.hp1 others(18): Show HG00099.hp1 HG00741.hp1 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01192.hp1 HG01261.hp2 HG01358.hp2 HG02040.hp2 HG02129.hp1 HG02886.hp1 HG02965.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03490.hp1 NA18965.hp2 NA19012.hp2 NA19088.hp1 NA19240.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0003 a0001c0001 a0001c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0003c0003t0001	a0001c0001t0001g0021 a0001c0001t0001g0062 a0001c0001t0001g0065 others(18): Show a0001c0001t0001g0021 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0109 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0002g0119 a0001c0002t0001g0237 a0003c0003t0001g0254	21	270	0.0778	318	c.200 others(335): Show c.2009-695_2009-694insAAAAACTGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	16/16			chr4	TogoVar
PPEF2_chr4_75854867_75907452	75861614	G G	GTTTTTTT others(311): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCAGTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	270	0.0037	318	c.200 others(335): Show c.2009-695_2009-694insAAAACTGGCCGGGCGCGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	16/16			chr4	TogoVar
PPME1_chr11_74166289_74259703	74196073	G G	GAAGAAAT others(311): Show GAAGAAATTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0090 a0001c0001t0006g0090	1	370	0.0027	318	c.102 others(335): Show c.102-7644_102-7643insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTGAG	PPME1	ENSG00000214517.10	transcript	ENST00000328257.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP1R21_chr2_48435766_48520386	48512529	G G	GAAGAAAC others(311): Show GAAGAAACCATGGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGC CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0153 a0001c0003t0034g0153	1	372	0.0027	318	c.231 others(337): Show c.2313+1074_2313+1075insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACCATGGC	PPP1R21	ENSG00000162869.16	transcript	ENST00000294952.13	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 10000 hits)