Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(18): Show ATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0074 a0001c0005t0074	a0001c0005t0074g0322 a0001c0005t0074g0322	1	328	0.0031	25	c.858 others(42): Show c.858+2796_858+2797insAAAAAAAAAAAAAAAAATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(18): Show ATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0233 a0001c0002t0001g0233	1	328	0.0031	25	c.858 others(42): Show c.858+2796_858+2797insAAAAAAAAAAAAAAAAAAATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATTT others(18): Show ATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0008 a0001c0031t0008	a0001c0031t0008g0232 a0001c0031t0008g0232	1	328	0.0031	25	c.858 others(42): Show c.858+2796_858+2797insAAAAAAAAAAAAAAAAAAAAATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0009 a0001c0001t0024g0009	1	248	0.0040	25	c.139 others(44): Show c.139-15364_139-15363insAAAAAAAAATATATATATATATATA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE7B_chr6_135846701_136200574	135934829	A A	ATATATTT others(18): Show ATATATTTATTATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0136	1	142	0.0070	25	c.22- others(42): Show c.22-12633_22-12632insTATTTATTATATATATATTTATTTA	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE8A_chr15_84976856_85144142	85119468	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG01884.hp1 others(14): Show HG00423.hp2 HG00558.hp1 HG01884.hp1 HG02273.hp2 HG02559.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp1 NA18944.hp2 NA18982.hp1 NA18985.hp2 NA18990.hp2 NA18995.hp1 NA19043.hp2 NA19060.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0001t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0001g0104 others(14): Show a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0006g0124 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0310 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0002t0001g0316	17	344	0.0494	25	c.173 others(44): Show c.1735-1316_1735-1315insAAAAAAAAAAAAAAAAAAAAAAAAA	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE8B_chr5_77205680_77433256	77397026	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02071.hp1 HG02080.hp2 others(10): Show HG00597.hp2 HG02071.hp1 HG02080.hp2 HG03209.hp2 HG03492.hp2 NA18950.hp1 NA18955.hp1 NA18960.hp1 NA18988.hp1 NA19009.hp1 NA19065.hp2 NA19067.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0017 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031	a0001c0001t0001g0194 a0001c0001t0001g0247 a0001c0001t0002g0128 others(10): Show a0001c0001t0001g0194 a0001c0001t0001g0247 a0001c0001t0002g0128 a0001c0001t0003g0172 a0001c0001t0006g0142 a0001c0001t0006g0187 a0001c0001t0006g0220 a0001c0001t0006g0241 a0001c0001t0006g0283 a0001c0001t0017g0245 a0001c0001t0026g0036 a0001c0001t0030g0271 a0001c0001t0031g0215	13	314	0.0414	25	c.116 others(44): Show c.1168-3198_1168-3197insTTTTTTTTTTTTTTTTTTTTTTTTT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0247 a0001c0002t0001g0247	1	324	0.0031	25	c.263 others(42): Show c.263-5145_263-5144insATATATATATATATATATTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0289 a0001c0002t0001g0289	1	324	0.0031	25	c.263 others(42): Show c.263-5145_263-5144insATATATATATATATATTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	324	0.0031	25	c.263 others(42): Show c.263-5145_263-5144insATATATATATATATTTTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02976.hp2 HG03942.hp2 HG02572.hp1 HG02976.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002	a0001c0001t0003g0005 a0001c0002t0001g0308 a0001c0002t0002g0302 a0001c0001t0003g0005 a0001c0002t0001g0308 a0001c0002t0002g0302	3	324	0.0093	25	c.263 others(42): Show c.263-5145_263-5144insATATATATATATTTTTTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFA_chr7_492258_524846	499720	T T	TCCCCCCC others(18): Show TCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0094 a0001c0001t0027g0094	1	302	0.0033	25	c.581 others(42): Show c.581-1147_581-1146insGGGGGGGGGGGGGGGGGGGGGGGGG	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	5/5			chr7	TogoVar
PDGFA_chr7_492258_524846	510747	A A	AGGAGGGG others(18): Show AGGAGGGGAGGGGAGAGGAGAGGAGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp2 HG03471.hp2 others(1): Show HG03098.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0001t0048 a0001c0001t0061 others(1): Show a0001c0001t0033 a0001c0001t0048 a0001c0001t0061 a0001c0002t0062	a0001c0001t0033g0154 a0001c0001t0048g0009 a0001c0001t0061g0020 others(1): Show a0001c0001t0033g0154 a0001c0001t0048g0009 a0001c0001t0061g0020 a0001c0002t0062g0016	4	302	0.0133	25	c.453 others(38): Show c.453+37_453+61dupCCTCCTCTCCTCTCCCCTCCCCTCC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDGFA_chr7_492258_524846	519896	T T	TCCCCCGC others(18): Show TCCCCCGCCCCCGCCCCCGCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0237 a0001c0001t0037g0237	1	302	0.0033	25	c.-92 others(34): Show c.-920_-896dupGGGGGGGCGGGGGCGGGGGCGGGGG	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding		51		chr7	TogoVar
PDGFD_chr11_103902189_104169147	104084787	A A	ATATAAAA others(18): Show ATATAAAATATATATTTTATAAGTAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp2 others(89): Show HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp2 HG01123.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01496.hp2 HG01891.hp1 HG01978.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02129.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18950.hp1 NA18953.hp1 NA18957.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18973.hp1 NA18979.hp1 NA18980.hp1 NA18985.hp1 NA18990.hp1 NA18992.hp1 NA19002.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19085.hp2 NA19088.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0006t0002 a0003c0005t0002	a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0040 others(89): Show a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0056 a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0104 a0001c0001t0002g0110 a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0193 a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0010 a0001c0001t0003g0074 a0001c0001t0003g0082 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0112 a0001c0001t0003g0120 a0001c0001t0003g0123 a0001c0001t0003g0140 a0001c0001t0003g0148 a0001c0001t0003g0152 a0001c0001t0007g0122 a0001c0001t0009g0124 a0001c0001t0009g0154 a0001c0001t0010g0067 a0001c0001t0015g0165 a0001c0001t0019g0153 a0001c0001t0020g0197 a0001c0001t0021g0199 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0014 a0001c0002t0001g0028 a0001c0002t0001g0043 a0001c0002t0001g0047 a0001c0002t0001g0050 a0001c0002t0001g0066 a0001c0002t0001g0076 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0105 a0001c0002t0001g0114 a0001c0002t0001g0121 a0001c0002t0001g0126 a0001c0002t0001g0136 a0001c0002t0001g0149 a0001c0002t0001g0156 a0001c0002t0001g0161 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0179 a0001c0002t0001g0184 a0001c0002t0004g0026 a0001c0002t0004g0033 a0001c0002t0004g0070 a0001c0002t0004g0072 a0001c0002t0004g0173 a0001c0002t0005g0002 a0001c0002t0005g0025 a0001c0002t0005g0180 a0001c0002t0006g0088 a0001c0002t0008g0103 a0001c0002t0012g0189 a0001c0002t0013g0069 a0001c0002t0013g0071 a0001c0006t0002g0159 a0003c0005t0002g0187	92	200	0.4600	25	c.124 others(44): Show c.124+78992_124+79016dupATACTTATAAAATATATATTTTATA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104119329	T T	TATATAAT others(18): Show TATATAATATATTGATATAATATATA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18985.hp1 NA18957.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0007 a0001c0002t0001g0005 a0001c0001t0003g0007 a0001c0002t0001g0005	2	200	0.0100	25	c.124 others(44): Show c.124+44450_124+44474dupTATATATTATATCAATATATTATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104119457	T T	TATATAAT others(18): Show TATATAATATATTGATATAATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	200	0.0050	25	c.124 others(44): Show c.124+44322_124+44346dupTATATATTATATCAATATATTATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRA_chr4_54224293_54303245	54271979	T T	TCCCCCCT others(18): Show TCCCCCCTCCCCTCCCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0288 a0003c0006t0003g0288	1	300	0.0033	25	c.123 others(42): Show c.1238-410_1238-409insCTCCCCTCCCCCCTCCCCTCCCCCC	PDGFRA	ENSG00000134853.12	transcript	ENST00000257290.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDGFRL_chr8_17572216_17648144	17577082	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02280.hp2 others(2): Show HG02055.hp2 HG02145.hp2 HG02280.hp2 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0336 others(2): Show a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0001g0339	5	400	0.0125	25	c.-17 others(34): Show c.-171_-170insAAAAAAAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding		133		chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17590236	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG00673.hp2 others(54): Show HG00438.hp2 HG00609.hp2 HG00673.hp2 HG00741.hp2 HG01069.hp2 HG01192.hp2 HG01257.hp1 HG01358.hp1 HG01496.hp1 HG01928.hp1 HG01952.hp2 HG02056.hp1 HG02071.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG02486.hp2 HG02615.hp1 HG02735.hp1 HG03239.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18956.hp1 NA18956.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18997.hp1 NA18999.hp2 NA19007.hp1 NA19009.hp2 NA19070.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0056 others(54): Show a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0084 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0201 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0303 a0001c0001t0001g0308 a0001c0001t0001g0373 a0001c0001t0001g0385 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0008g0130 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0095 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0135 a0001c0002t0001g0161 a0001c0002t0001g0166 a0001c0002t0001g0182 a0001c0002t0001g0253 a0001c0002t0001g0287 a0001c0002t0001g0304 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0386 a0001c0002t0001g0387 a0002c0003t0001g0264 a0002c0003t0001g0297	57	400	0.1425	25	c.353 others(40): Show c.353+491_353+492insAAAAAAAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(18): Show TCCCCGCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp2 HG03041.hp1 HG02257.hp2 HG02965.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0186 a0001c0001t0001g0380 a0001c0001t0001g0013 a0001c0001t0001g0186 a0001c0001t0001g0380	3	400	0.0075	25	c.940 others(40): Show c.940-710_940-709insCCCCCCCCCCCCCCCCCCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(18): Show TCCCCGCCCCGCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	400	0.0025	25	c.940 others(40): Show c.940-710_940-709insCCGCCCCCCCCCCCCCCCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDIA2_chr16_278164_292215	286148	C C	CCTCCCTG others(18): Show CCTCCCTGTCAGGCCCTGCAGAGGAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	436	0.0023	25	c.112 others(42): Show c.1120-199_1120-175dupTGTCAGGCCCTGCAGAGGATCTCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA5_chr3_123062025_123167104	123117374	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	332	0.0030	25	c.609 others(42): Show c.609+1076_609+1077insATATATATATATATATATATATATA	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16			chr3	TogoVar
PDILT_chr16_20354175_20409737	20402290	A A	ATCTTTTC others(18): Show ATCTTTTCTTTTCTTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01192.hp1 others(19): Show HG01069.hp2 HG01071.hp2 HG01192.hp1 HG01255.hp2 HG01433.hp2 HG02004.hp1 HG02129.hp1 HG02293.hp2 HG02630.hp1 HG02895.hp1 HG02896.hp1 NA18947.hp1 NA18948.hp1 NA18962.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA19012.hp2 NA19064.hp1 NA19066.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0003 a0002c0004 others(2): Show a0001c0001 a0002c0003 a0002c0004 a0003c0002 a0010c0014	a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 others(2): Show a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 a0003c0002t0001 a0010c0014t0001	a0001c0001t0001g0008 a0001c0001t0001g0093 a0001c0001t0001g0109 others(18): Show a0001c0001t0001g0008 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0132 a0001c0001t0001g0225 a0001c0001t0001g0240 a0001c0001t0001g0261 a0001c0001t0001g0285 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0002c0003t0001g0228 a0002c0004t0001g0312 a0003c0002t0001g0068 a0003c0002t0001g0069 a0003c0002t0001g0224 a0003c0002t0001g0306 a0010c0014t0001g0117 a0010c0014t0001g0227	22	406	0.0542	25	c.-8+ others(40): Show c.-8+2181_-8+2205dupAAAGAAAAGAAAAGAAAAGAAAAGA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	1/11			chr16	TogoVar
PDK1_chr2_172551090_172613669	172590777	A A	ATTTTACA others(18): Show ATTTTACAGAGTGCTGATTGGTGCAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(122): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01167.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18977.hp1 NA18979.hp2 NA18988.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0006 a0004c0007	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 others(54): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0002t0012 a0001c0002t0013 a0001c0002t0025 a0001c0002t0028 a0001c0002t0086 a0001c0002t0087 a0001c0002t0088 a0001c0002t0089 a0001c0002t0090 a0001c0002t0091 a0001c0002t0092 a0001c0002t0093 a0001c0002t0097 a0001c0004t0043 a0001c0004t0044 a0002c0003t0010 a0003c0006t0007 a0004c0007t0102	a0001c0001t0002g0007 a0001c0001t0002g0022 a0001c0001t0002g0023 others(112): Show a0001c0001t0002g0007 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0299 a0001c0001t0002g0304 a0001c0001t0007g0001 a0001c0001t0007g0297 a0001c0001t0007g0298 a0001c0001t0007g0301 a0001c0001t0007g0303 a0001c0001t0010g0071 a0001c0001t0010g0072 a0001c0001t0010g0073 a0001c0001t0016g0205 a0001c0001t0016g0264 a0001c0001t0016g0265 a0001c0001t0016g0267 a0001c0001t0017g0204 a0001c0001t0017g0206 a0001c0001t0017g0207 a0001c0001t0026g0009 a0001c0001t0026g0059 a0001c0001t0027g0008 a0001c0001t0027g0029 a0001c0001t0027g0030 a0001c0001t0029g0025 a0001c0001t0029g0285 a0001c0001t0029g0289 a0001c0001t0040g0271 a0001c0001t0040g0272 a0001c0001t0041g0263 a0001c0001t0041g0268 a0001c0001t0042g0065 a0001c0001t0042g0066 a0001c0001t0045g0027 a0001c0001t0045g0032 a0001c0001t0046g0033 a0001c0001t0046g0034 a0001c0001t0047g0296 a0001c0001t0047g0302 a0001c0001t0050g0074 a0001c0001t0051g0192 a0001c0001t0052g0201 a0001c0001t0082g0269 a0001c0001t0083g0266 a0001c0001t0084g0067 a0001c0001t0085g0070 a0001c0001t0094g0008 a0001c0001t0095g0060 a0001c0001t0096g0028 a0001c0001t0098g0035 a0001c0001t0099g0057 a0001c0001t0100g0090 a0001c0001t0101g0274 a0001c0001t0103g0203 a0001c0001t0104g0286 a0001c0001t0105g0278 a0001c0001t0106g0300 a0001c0001t0107g0281 a0001c0001t0108g0283 a0001c0001t0109g0024 a0001c0001t0110g0001 a0001c0001t0111g0294 a0001c0001t0112g0026 a0001c0001t0113g0026 a0001c0002t0012g0036 a0001c0002t0012g0037 a0001c0002t0012g0038 a0001c0002t0012g0039 a0001c0002t0012g0040 a0001c0002t0012g0050 a0001c0002t0013g0043 a0001c0002t0013g0048 a0001c0002t0013g0051 a0001c0002t0013g0054 a0001c0002t0013g0055 a0001c0002t0013g0064 a0001c0002t0025g0041 a0001c0002t0025g0052 a0001c0002t0025g0063 a0001c0002t0028g0042 a0001c0002t0028g0049 a0001c0002t0028g0056 a0001c0002t0086g0044 a0001c0002t0087g0058 a0001c0002t0088g0045 a0001c0002t0089g0047 a0001c0002t0090g0053 a0001c0002t0091g0046 a0001c0002t0092g0062 a0001c0002t0093g0061 a0001c0002t0097g0031 a0001c0004t0043g0144 a0001c0004t0043g0208 a0001c0004t0044g0016 a0002c0003t0010g0010 a0002c0003t0010g0075 a0002c0003t0010g0270 a0003c0006t0007g0295 a0004c0007t0102g0176	125	342	0.3655	25	c.105 others(44): Show c.1057-2136_1057-2135insCATTTTTACAGAGTGCTGATTGGTG	PDK1	ENSG00000152256.14	transcript	ENST00000282077.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
PDLIM1_chr10_95232572_95296003	95256986	A A	AAAAAGAA others(18): Show AAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	338	0.0030	25	c.533 others(42): Show c.533+6877_533+6878insCTTTCTTTCTTTCTTTCTTTCTTTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM7_chr5_177478394_177502604	177497008	G G	GGGGGAGG others(18): Show GGGGGAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00642.hp1 others(20): Show HG00099.hp2 HG00408.hp2 HG00642.hp1 HG01123.hp1 HG01192.hp2 HG02080.hp2 HG02735.hp2 HG02976.hp1 HG03209.hp2 HG03225.hp1 HG03490.hp1 HG03491.hp1 HG03688.hp1 NA18942.hp1 NA18949.hp2 NA18964.hp2 NA18979.hp2 NA18998.hp2 NA19004.hp1 NA19057.hp1 NA19068.hp1 NA19070.hp1 NA19090.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0018 a0001c0001 a0001c0002 a0006c0018	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0006c0018t0001	a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0002t0001g0008 others(15): Show a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0002t0001g0008 a0001c0002t0001g0039 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0002g0192 a0006c0018t0001g0316	23	440	0.0523	25	c.-11 others(40): Show c.-11-486_-11-485insTCCCCTCCCCTCCCCTCCCCTCCCC	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	1/12			chr5	TogoVar
PDPK1_chr16_2533021_2608188	2533430	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02071.hp2 NA18960.hp1 others(1): Show HG01934.hp2 HG02071.hp2 NA18960.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0095 a0001c0001t0001g0107 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0166	4	184	0.0217	25	c.-46 others(36): Show c.-4683_-4682insTTTTTTTTTTTTTTTTTTTTTTTTT	PDPK1	ENSG00000140992.19	transcript	ENST00000342085.9	protein_coding		4590		chr16	TogoVar
PDPN_chr1_13578832_13622957	13588980	A A	AGCTACTA others(18): Show AGCTACTATTCAATAAATTGAATAGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(147): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp2 NA18949.hp2 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp1 NA18994.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19060.hp2 NA19063.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0043 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0002t0026 a0001c0002t0034 a0001c0002t0054 a0002c0003t0055	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(138): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0301 a0001c0001t0001g0414 a0001c0001t0002g0026 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0134 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0394 a0001c0001t0003g0043 a0001c0001t0003g0188 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0004g0040 a0001c0001t0004g0042 a0001c0001t0004g0045 a0001c0001t0004g0055 a0001c0001t0004g0062 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0082 a0001c0001t0004g0086 a0001c0001t0004g0089 a0001c0001t0004g0091 a0001c0001t0004g0123 a0001c0001t0004g0130 a0001c0001t0004g0139 a0001c0001t0004g0159 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0175 a0001c0001t0005g0007 a0001c0001t0005g0041 a0001c0001t0005g0114 a0001c0001t0005g0207 a0001c0001t0007g0048 a0001c0001t0007g0058 a0001c0001t0007g0072 a0001c0001t0007g0108 a0001c0001t0007g0119 a0001c0001t0007g0132 a0001c0001t0007g0135 a0001c0001t0007g0395 a0001c0001t0008g0049 a0001c0001t0008g0056 a0001c0001t0008g0057 a0001c0001t0008g0170 a0001c0001t0009g0090 a0001c0001t0009g0128 a0001c0001t0009g0161 a0001c0001t0009g0169 a0001c0001t0009g0173 a0001c0001t0010g0044 a0001c0001t0012g0001 a0001c0001t0012g0177 a0001c0001t0016g0007 a0001c0001t0020g0060 a0001c0001t0020g0129 a0001c0001t0021g0106 a0001c0001t0021g0115 a0001c0001t0021g0118 a0001c0001t0025g0157 a0001c0001t0026g0096 a0001c0001t0027g0065 a0001c0001t0027g0066 a0001c0001t0029g0085 a0001c0001t0029g0103 a0001c0001t0043g0117 a0001c0001t0045g0116 a0001c0001t0047g0076 a0001c0001t0048g0113 a0001c0001t0049g0415 a0001c0001t0050g0073 a0001c0001t0058g0165 a0001c0001t0059g0110 a0001c0001t0060g0098 a0001c0002t0026g0093 a0001c0002t0034g0025 a0001c0002t0054g0302 a0002c0003t0055g0087	150	446	0.3363	25	c.67+ others(40): Show c.67+4897_67+4898insTGAATAGTGCTACTATTCAATAAAT	PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDS5A_chr4_39817863_39982911	39826473	T T	TTTTATTT others(18): Show TTTTATTTATTTATTTATTTATTTAA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0207 a0001c0002t0005g0207	1	356	0.0028	25	c.401 others(42): Show c.4011-986_4011-985insTTAAATAAATAAATAAATAAATAAA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	32/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842909	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	356	0.0028	25	c.354 others(42): Show c.3549-854_3549-853insTATATATATATATATATATATATAT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39909040	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00741.hp2 others(16): Show HG00099.hp1 HG00140.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01192.hp1 HG01243.hp1 HG01515.hp1 HG02027.hp1 HG03130.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03942.hp2 NA18944.hp1 NA18973.hp2 NA18988.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0009 a0003c0005 a0001c0002 a0001c0009 a0003c0005	a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 others(2): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0009t0003 a0003c0005t0002	a0001c0002t0002g0214 a0001c0002t0003g0127 a0001c0002t0003g0128 others(16): Show a0001c0002t0002g0214 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0141 a0001c0002t0003g0143 a0001c0002t0003g0145 a0001c0002t0003g0147 a0001c0002t0003g0150 a0001c0002t0003g0153 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0163 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0169 a0001c0002t0010g0140 a0001c0002t0010g0164 a0001c0009t0003g0151 a0003c0005t0002g0184	19	356	0.0534	25	c.108 others(42): Show c.1088-525_1088-501dupATTTTATTTTATTTTATTTTATTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	10/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32655368	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0052 a0001c0001t0014g0052	1	334	0.0030	25	c.313 others(42): Show c.313-2870_313-2869insTTTTTTTTTTTTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655372	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0015 a0001c0003t0001g0015	1	334	0.0030	25	c.313 others(42): Show c.313-2866_313-2865insTTTTTTTTTTTTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0112 a0001c0001t0010g0112	1	334	0.0030	25	c.313 others(42): Show c.313-2864_313-2863insATATATATATATATATATATTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655375	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA18942.hp1 NA19057.hp2 HG01516.hp1 NA18942.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0135 a0001c0001t0002g0189 a0001c0001t0002g0123 a0001c0001t0002g0135 a0001c0001t0002g0189	3	334	0.0090	25	c.313 others(42): Show c.313-2864_313-2863insATATATATATATATATATATATATA	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34			chr13	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02132.hp1 HG02165.hp2 others(7): Show HG02071.hp1 HG02132.hp1 HG02165.hp2 NA18952.hp2 NA18960.hp2 NA18973.hp2 NA18975.hp1 NA18984.hp1 NA19004.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0126 others(7): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0126 a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0229	10	416	0.0240	25	c.163 others(40): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAAAAAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS2_chr6_107147562_107464564	107173572	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	260	0.0039	25	c.104 others(46): Show c.1042-18820_1042-18796dupTTTTTTTTTTTTTTTTTTTTTTTT T	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	7/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107225161	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18975.hp1 NA19084.hp2 NA18906.hp1 NA18975.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0007g0156 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0007g0156	3	260	0.0115	25	c.703 others(44): Show c.703-12880_703-12879insATATATATATATATATATATATATA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107225162	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0230 a0001c0001t0007g0230	1	260	0.0039	25	c.703 others(44): Show c.703-12881_703-12880insTATATATATATATATATATATATAT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0095 a0001c0001t0005g0095	1	260	0.0039	25	c.296 others(44): Show c.296+29088_296+29089insATATATATATATATATTTTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAATACAT others(18): Show AAATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	260	0.0039	25	c.296 others(44): Show c.296+29088_296+29089insATATATATATATATATATATGTATT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	260	0.0039	25	c.296 others(44): Show c.296+29088_296+29089insATATATATATATATATATATATATT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDXDC1_chr16_14970026_15043332	14984495	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0030 a0002c0002t0009g0030	1	279	0.0036	25	c.21+ others(40): Show c.21+9276_21+9277insATATATATATATATATATATATTTT	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0004 a0007c0013t0004	a0007c0013t0004g0198 a0007c0013t0004g0198	1	216	0.0046	25	c.-36 others(46): Show c.-361+49917_-361+49918insATATATATATATATATTTTTTTTT T	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0019 a0019	a0019c0046 a0019c0046	a0019c0046t0014 a0019c0046t0014	a0019c0046t0014g0157 a0019c0046t0014g0157	1	216	0.0046	25	c.-36 others(46): Show c.-361+49917_-361+49918insATATATATATATATTTTTTTTTTT T	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31969509	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0026 a0002c0002t0003g0026	1	216	0.0046	25	c.477 others(44): Show c.477-13644_477-13620dupAAAAAAAAAAAAAAAAAAAAAAAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31988453	A A	ATCACCCT others(18): Show ATCACCCTCCTGGCATGTGGATGTAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03098.hp1 HG03239.hp1 HG02818.hp2 HG03098.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0010 a0001c0001 a0001c0007 a0001c0010	a0001c0001t0001 a0001c0007t0009 a0001c0010t0015 a0001c0001t0001 a0001c0007t0009 a0001c0010t0015	a0001c0001t0001g0083 a0001c0007t0009g0183 a0001c0010t0015g0199 a0001c0001t0001g0083 a0001c0007t0009g0183 a0001c0010t0015g0199	3	216	0.0139	25	c.978 others(42): Show c.978+4828_978+4852dupCTCCTGGCATGTGGATGTATTCACC	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32025591	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01978.hp2 NA18747.hp2 HG00621.hp1 HG01978.hp2 NA18747.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0001c0001t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0130 a0002c0002t0001g0084 a0003c0004t0001g0163 a0001c0001t0001g0130 a0002c0002t0001g0084 a0003c0004t0001g0163	3	216	0.0139	25	c.140 others(46): Show c.1408-11636_1408-11612dupTTTTTTTTTTTTTTTTTTTTTTTT T	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr5	TogoVar

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