Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PDK1_chr2_172551090_172613669	172557610	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0069 a0001c0001t0067g0069	1	342	0.0029	-12	c.197 others(29): Show c.197-1073_197-1062delGTGTGTGTGTGT		PDK1	ENSG00000152256.14	transcript	ENST00000282077.8	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
PDK2_chr17_50090351_50117152	50114527	AGAACCAA others(5): Show AGAACCAAGCCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0090 a0001c0002t0014g0090	1	398	0.0025	-12	c.44 others(23): Show c.4431_*4442delGAACCAAGCCAG		PDK2	ENSG00000005882.12	transcript	ENST00000503176.6	protein_coding					2376		chr17	TogoVar
PDK3_chrX_24460286_24539422	24506801	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	258	0.0039	-12	c.595 others(29): Show c.595+1519_595+1530delTTTTTTTTTTTT		PDK3	ENSG00000067992.17	transcript	ENST00000379162.9	protein_coding	5/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
PDK3_chrX_24460286_24539422	24518837	GCACACAC others(5): Show GCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18999.hp2 HG01981.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0214 a0001c0001t0002g0076 a0001c0001t0002g0214	2	258	0.0078	-12	c.596 others(25): Show c.596-64_596-53delACACACACACAC		PDK3	ENSG00000067992.17	transcript	ENST00000379162.9	protein_coding	5/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
PDK4_chr7_95578499_95601516	95580039	TTATATAT others(5): Show TTATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG03139.hp1 HG02040.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0002 a0001c0001t0010 a0001c0002t0002	a0001c0001t0010g0075 a0001c0002t0002g0001 a0001c0001t0010g0075 a0001c0002t0002g0001	2	384	0.0052	-12	c.55 others(23): Show c.5590_*5601delTATATATATATA		PDK4	ENSG00000004799.8	transcript	ENST00000005178.6	protein_coding					3459		chr7	TogoVar
PDLIM3_chr4_185495660_185540507	185530965	GAAACACA others(5): Show GAAACACACACAC	G G	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	412	0.0024	-12	c.93+ others(27): Show c.93+4365_93+4376delGTGTGTGTGTTT		PDLIM3	ENSG00000154553.17	transcript	ENST00000284767.12	protein_coding	1/7						chr4	TogoVar
PDLIM3_chr4_185495660_185540507	185530977	CACACACA others(5): Show CACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00597.hp1 others(13): Show HG00323.hp2 HG00423.hp2 HG00597.hp1 HG01261.hp2 HG01981.hp1 HG02071.hp2 HG02074.hp2 HG02683.hp1 HG02717.hp2 HG03130.hp2 HG04199.hp1 NA18955.hp1 NA19002.hp2 NA19009.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0166 others(11): Show a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0166 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0247 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0290 a0001c0002t0001g0145 a0001c0002t0001g0291	16	412	0.0388	-12	c.93+ others(27): Show c.93+4353_93+4364delATGTGTGTGTGT		PDLIM3	ENSG00000154553.17	transcript	ENST00000284767.12	protein_coding	1/7						chr4	TogoVar
PDLIM4_chr5_132252696_132278454	132257677	GCGGCGGC others(5): Show GCGGCGGCGGCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(188): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18946.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18983.hp2 NA18984.hp2 NA18987.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp2 NA19086.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0003t0002 a0001c0004t0001 others(11): Show a0001c0001t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0004t0006 a0001c0005t0001 a0001c0006t0002 a0001c0006t0004 a0001c0006t0007 a0001c0006t0008 a0001c0006t0013 a0002c0002t0002 a0002c0002t0009 a0002c0007t0002	a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0043 others(61): Show a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0085 a0001c0003t0002g0040 a0001c0003t0002g0044 a0001c0004t0001g0003 a0001c0004t0001g0025 a0001c0004t0001g0052 a0001c0004t0001g0058 a0001c0004t0001g0062 a0001c0004t0003g0012 a0001c0004t0003g0015 a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0003g0037 a0001c0004t0003g0091 a0001c0004t0003g0092 a0001c0004t0003g0093 a0001c0004t0003g0094 a0001c0004t0003g0095 a0001c0004t0003g0096 a0001c0004t0003g0097 a0001c0004t0003g0098 a0001c0004t0003g0099 a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0006g0053 a0001c0004t0006g0054 a0001c0004t0006g0055 a0001c0004t0006g0056 a0001c0005t0001g0005 a0001c0005t0001g0007 a0001c0005t0001g0022 a0001c0005t0001g0029 a0001c0005t0001g0050 a0001c0005t0001g0051 a0001c0005t0001g0057 a0001c0005t0001g0060 a0001c0005t0001g0061 a0001c0005t0001g0063 a0001c0005t0001g0064 a0001c0006t0002g0011 a0001c0006t0002g0027 a0001c0006t0004g0017 a0001c0006t0004g0045 a0001c0006t0007g0021 a0001c0006t0008g0065 a0001c0006t0008g0066 a0001c0006t0013g0041 a0002c0002t0002g0002 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0024 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0009g0014 a0002c0007t0002g0002	191	410	0.4659	-12	c.-57 others(19): Show c.-57_-46delCGGCGGCGGCTC		PDLIM4	ENSG00000131435.13	transcript	ENST00000253754.8	protein_coding					18		chr5	TogoVar
PDLIM5_chr4_94446942_94673223	94530510	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp2 HG02486.hp2 others(6): Show HG02083.hp1 HG02083.hp2 HG02486.hp2 HG02896.hp2 HG06807.hp1 NA18747.hp1 NA18949.hp1 NA18956.hp1 NA18983.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0004 a0001c0001t0008 a0001c0001t0020 others(3): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0020 a0002c0003t0003 a0002c0003t0015 a0003c0004t0034	a0001c0001t0004g0213 a0001c0001t0008g0182 a0001c0001t0020g0165 others(6): Show a0001c0001t0004g0213 a0001c0001t0008g0182 a0001c0001t0020g0165 a0002c0003t0003g0018 a0002c0003t0003g0139 a0002c0003t0003g0162 a0002c0003t0015g0163 a0002c0003t0015g0205 a0003c0004t0034g0079	9	218	0.0413	-12	c.248 others(29): Show c.248+6661_248+6672delTATATATATATA		PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDLIM5_chr4_94446942_94673223	94543778	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp1 HG01167.hp2 others(10): Show HG01071.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG02559.hp1 HG03491.hp2 HG03579.hp2 HG03669.hp1 NA18949.hp1 NA18956.hp1 NA18961.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0007	a0001c0001t0004 a0001c0001t0007 a0001c0002t0002 others(6): Show a0001c0001t0004 a0001c0001t0007 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0023 a0002c0003t0003 a0002c0003t0015 a0003c0007t0001	a0001c0001t0004g0142 a0001c0001t0007g0197 a0001c0002t0002g0113 others(10): Show a0001c0001t0004g0142 a0001c0001t0007g0197 a0001c0002t0002g0113 a0001c0002t0003g0128 a0001c0002t0005g0187 a0001c0002t0005g0188 a0001c0002t0023g0150 a0002c0003t0003g0137 a0002c0003t0003g0162 a0002c0003t0003g0193 a0002c0003t0015g0163 a0003c0007t0001g0059 a0003c0007t0001g0072	13	218	0.0596	-12	c.248 others(31): Show c.248+19949_248+19960delGTGTGTGTGTGT		PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDLIM5_chr4_94446942_94673223	94588563	CTAAATAA others(5): Show CTAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02970.hp1 HG02258.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0190 a0001c0002t0005g0191 a0001c0002t0005g0190 a0001c0002t0005g0191	2	218	0.0092	-12	c.920 others(29): Show c.920+2151_920+2162delATAAATAAATAA		PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDLIM5_chr4_94446942_94673223	94659486	ATGTGTGT others(5): Show ATGTGTGTATGTG	A A	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02027.hp1 HG02129.hp1 others(5): Show HG01258.hp1 HG02027.hp1 HG02129.hp1 HG03942.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18959.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0004 a0003c0004t0004 a0001c0001t0004 a0003c0004t0004	a0001c0001t0004g0031 a0001c0001t0004g0039 a0001c0001t0004g0053 others(5): Show a0001c0001t0004g0031 a0001c0001t0004g0039 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0064 a0001c0001t0004g0154 a0001c0001t0004g0196 a0003c0004t0004g0047	8	218	0.0367	-12	c.158 others(31): Show c.1585+1947_1585+1958delATGTGTGTGTGT		PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDLIM7_chr5_177478394_177502604	177486931	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02148.hp2 HG02293.hp1 others(9): Show HG02071.hp2 HG02148.hp2 HG02293.hp1 HG04228.hp1 NA18940.hp2 NA18960.hp1 NA18963.hp1 NA18980.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0330 a0002c0003t0001g0010 a0002c0003t0001g0055 others(6): Show a0001c0001t0001g0330 a0002c0003t0001g0010 a0002c0003t0001g0055 a0002c0003t0001g0060 a0002c0003t0001g0081 a0002c0003t0001g0099 a0002c0003t0001g0120 a0002c0003t0001g0122 a0002c0003t0001g0175	12	440	0.0273	-12	c.105 others(31): Show c.1050+1125_1050+1136delAAAAAAAAAAAA		PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	10/12						chr5	TogoVar
PDLIM7_chr5_177478394_177502604	177490708	GGAAGGGA others(5): Show GGAAGGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01192.hp1 HG01243.hp1 others(51): Show HG00558.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp2 HG02027.hp1 HG02040.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02735.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03540.hp2 HG03688.hp2 HG04228.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18948.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18968.hp2 NA18970.hp1 NA18979.hp1 NA18980.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA19007.hp2 NA19056.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp2 NA19080.hp1 NA19085.hp1 NA19089.hp2 NA19090.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0016 a0002c0003 a0002c0016	a0002c0003t0001 a0002c0016t0001 a0002c0003t0001 a0002c0016t0001	a0002c0003t0001g0001 a0002c0003t0001g0004 a0002c0003t0001g0010 others(30): Show a0002c0003t0001g0001 a0002c0003t0001g0004 a0002c0003t0001g0010 a0002c0003t0001g0015 a0002c0003t0001g0025 a0002c0003t0001g0027 a0002c0003t0001g0055 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0084 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0003t0001g0089 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0094 a0002c0003t0001g0095 a0002c0003t0001g0108 a0002c0003t0001g0120 a0002c0003t0001g0122 a0002c0003t0001g0175 a0002c0003t0001g0242 a0002c0016t0001g0085	54	440	0.1227	-12	c.572 others(27): Show c.572+150_572+161delTTCCTTCCCTTC		PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	7/12						chr5	TogoVar
PDLIM7_chr5_177478394_177502604	177490712	GGGAAGGA others(5): Show GGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00738.hp2 others(28): Show HG00099.hp1 HG00140.hp1 HG00738.hp2 HG01109.hp1 HG01255.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG02055.hp2 HG02080.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02622.hp2 HG02735.hp2 HG02818.hp1 HG02895.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03209.hp2 HG03471.hp2 HG03579.hp2 HG03927.hp2 HG04204.hp1 HG04204.hp2 NA18977.hp2 NA19007.hp1 NA19058.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 a0001c0011t0001 a0003c0006t0001	a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0168 others(25): Show a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0168 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0002t0001g0029 a0001c0002t0001g0053 a0001c0002t0001g0113 a0001c0002t0001g0116 a0001c0002t0001g0119 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0155 a0001c0002t0001g0176 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0004t0001g0028 a0001c0004t0001g0123 a0001c0004t0001g0160 a0001c0004t0001g0218 a0001c0004t0001g0219 a0001c0011t0001g0111 a0003c0006t0001g0301	31	440	0.0705	-12	c.572 others(27): Show c.572+146_572+157delTTCCTTCCTTCC		PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	7/12						chr5	TogoVar
PDLIM7_chr5_177478394_177502604	177492182	GCAGGCGG others(5): Show GCAGGCGGACAGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0247 a0001c0008t0001g0247	1	440	0.0023	-12	c.279 others(27): Show c.279+211_279+222delTCTGTCCGCCTG		PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	4/12						chr5	TogoVar
PDLIM7_chr5_177478394_177502604	177492556	CAGGCCCG others(5): Show CAGGCCCGGATCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18982.hp2 NA18982.hp2	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0001 a0009c0024t0001	a0009c0024t0001g0157 a0009c0024t0001g0157	1	440	0.0023	-12	c.206 others(19): Show c.206_217delAGATCCGGGCCT	p.Lys others(17): Show p.Lys69_Cys73delinsSer	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	3/13	305/1712	206/1374	69/457			chr5	TogoVar
PDP2_chr16_66875515_66896101	66887991	GTCCTTCC others(5): Show GTCCTTCCTTCCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG02071.hp2 HG02145.hp2 others(14): Show HG00597.hp2 HG02071.hp2 HG02145.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG03195.hp1 HG03225.hp2 HG03491.hp2 HG03654.hp1 HG03927.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA19240.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0016 a0001c0001t0031 others(3): Show a0001c0001t0012 a0001c0001t0016 a0001c0001t0031 a0001c0001t0036 a0001c0001t0043 a0001c0001t0065	a0001c0001t0012g0006 a0001c0001t0016g0008 a0001c0001t0016g0045 others(5): Show a0001c0001t0012g0006 a0001c0001t0016g0008 a0001c0001t0016g0045 a0001c0001t0031g0001 a0001c0001t0031g0035 a0001c0001t0036g0006 a0001c0001t0043g0024 a0001c0001t0065g0001	17	356	0.0478	-12	c.21 others(23): Show c.2174_*2185delTCCTTCCTTCCT		PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding	2/2				2174	INFO_REALIGN_3_PRIME	chr16	TogoVar
PDP2_chr16_66875515_66896101	66888049	CCTTCCTT others(5): Show CCTTCCTTCCTCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 HG01975.hp1 HG02132.hp2 others(10): Show HG00558.hp1 HG01975.hp1 HG02132.hp2 HG02970.hp1 NA18942.hp1 NA18951.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18993.hp1 NA19079.hp2 NA19088.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0008 a0001c0001t0041 a0001c0006t0046 a0001c0001t0008 a0001c0001t0041 a0001c0006t0046	a0001c0001t0008g0002 a0001c0001t0041g0015 a0001c0006t0046g0025 a0001c0001t0008g0002 a0001c0001t0041g0015 a0001c0006t0046g0025	13	356	0.0365	-12	c.21 others(23): Show c.2178_*2189delTCCTTCCTCTCT		PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding	2/2				2178	INFO_REALIGN_3_PRIME	chr16	TogoVar
PDPN_chr1_13578832_13622957	13590958	TTCAGATG others(5): Show TTCAGATGGAGTC	T T	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	446	0.0022	-12	c.67+ others(27): Show c.67+6861_67+6872delAGATGGAGTCTC		PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDPN_chr1_13578832_13622957	13592543	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0229 a0001c0001t0030g0229	1	446	0.0022	-12	c.67+ others(27): Show c.67+8455_67+8466delTTTTTTTTTTTT		PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDPN_chr1_13578832_13622957	13599373	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp1 HG02965.hp2 others(2): Show HG02280.hp2 HG02622.hp1 HG02965.hp2 HG03486.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 a0001c0001t0001 a0001c0001t0007 a0001c0001t0017	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0007g0108 others(1): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0007g0108 a0001c0001t0017g0014	5	446	0.0112	-12	c.68- others(27): Show c.68-7781_68-7770delTTTTTTTTTTTT		PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDPN_chr1_13578832_13622957	13601970	GGCTCATG others(5): Show GGCTCATGCCTTT	G G	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	446	0.0022	-12	c.68- others(27): Show c.68-5201_68-5190delCTCATGCCTTTG		PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDPN_chr1_13578832_13622957	13602026	ATGCCTTT others(5): Show ATGCCTTTGGGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00597.hp2 others(108): Show HG00099.hp1 HG00408.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02451.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG06807.hp2 NA18939.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18968.hp2 NA18970.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18989.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19005.hp2 NA19012.hp1 NA19054.hp2 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19079.hp1 NA19083.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0039 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0060 a0001c0005t0041 a0002c0003t0055 a0004c0006t0020	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0023 others(103): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0100 a0001c0001t0001g0111 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0001g0363 a0001c0001t0001g0365 a0001c0001t0001g0376 a0001c0001t0001g0378 a0001c0001t0001g0383 a0001c0001t0001g0411 a0001c0001t0002g0005 a0001c0001t0002g0026 a0001c0001t0002g0034 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0124 a0001c0001t0002g0176 a0001c0001t0002g0359 a0001c0001t0002g0362 a0001c0001t0002g0371 a0001c0001t0002g0374 a0001c0001t0002g0387 a0001c0001t0003g0200 a0001c0001t0003g0230 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0285 a0001c0001t0003g0410 a0001c0001t0004g0039 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0082 a0001c0001t0004g0086 a0001c0001t0004g0091 a0001c0001t0004g0123 a0001c0001t0004g0130 a0001c0001t0004g0360 a0001c0001t0004g0370 a0001c0001t0004g0372 a0001c0001t0004g0375 a0001c0001t0004g0384 a0001c0001t0004g0412 a0001c0001t0005g0114 a0001c0001t0005g0203 a0001c0001t0005g0207 a0001c0001t0005g0236 a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0006g0171 a0001c0001t0006g0228 a0001c0001t0007g0373 a0001c0001t0007g0382 a0001c0001t0008g0325 a0001c0001t0008g0369 a0001c0001t0008g0377 a0001c0001t0008g0380 a0001c0001t0008g0381 a0001c0001t0008g0403 a0001c0001t0009g0063 a0001c0001t0009g0128 a0001c0001t0009g0386 a0001c0001t0009g0388 a0001c0001t0009g0405 a0001c0001t0010g0215 a0001c0001t0010g0235 a0001c0001t0011g0197 a0001c0001t0016g0206 a0001c0001t0017g0014 a0001c0001t0017g0180 a0001c0001t0019g0216 a0001c0001t0019g0413 a0001c0001t0020g0129 a0001c0001t0021g0118 a0001c0001t0025g0361 a0001c0001t0026g0096 a0001c0001t0027g0066 a0001c0001t0028g0023 a0001c0001t0028g0364 a0001c0001t0029g0085 a0001c0001t0029g0103 a0001c0001t0039g0240 a0001c0001t0042g0327 a0001c0001t0043g0117 a0001c0001t0045g0116 a0001c0001t0047g0076 a0001c0001t0048g0113 a0001c0001t0050g0073 a0001c0001t0060g0098 a0001c0005t0041g0208 a0002c0003t0055g0087 a0004c0006t0020g0404	111	446	0.2489	-12	c.68- others(27): Show c.68-5146_68-5135delTGCCTTTGGGTG		PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5						chr1	TogoVar
PDS5A_chr4_39817863_39982911	39817880	CTATATAT others(5): Show CTATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0232 a0001c0001t0006g0232	1	356	0.0028	-12	c.75 others(23): Show c.7593_*7604delTATATATATATA		PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding					4982		chr4	TogoVar
PDS5A_chr4_39817863_39982911	39829950	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03139.hp1 HG03139.hp2 others(5): Show HG02486.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 NA18945.hp2 NA18964.hp2 NA18972.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0065 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0065 a0001c0001t0001g0081 a0001c0001t0001g0102 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0173	8	356	0.0225	-12	c.401 others(31): Show c.4011-4474_4011-4463delTTTTTTTTTTTT		PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	32/32						chr4	TogoVar
PDS5A_chr4_39817863_39982911	39867733	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(59): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00609.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01168.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02135.hp1 HG02300.hp1 HG02735.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03654.hp2 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18949.hp2 NA18956.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp2 NA18973.hp2 NA18983.hp1 NA18988.hp2 NA18992.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp2 NA19058.hp2 NA19065.hp1 NA19070.hp2 NA19084.hp2 NA19088.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0014	a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 others(4): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0002t0018 a0001c0009t0003 a0001c0014t0003	a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 others(59): Show a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0288 a0001c0002t0002g0214 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0134 a0001c0002t0003g0135 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0010g0129 a0001c0002t0010g0140 a0001c0002t0010g0164 a0001c0002t0018g0125 a0001c0009t0003g0151 a0001c0014t0003g0157	62	356	0.1742	-12	c.250 others(29): Show c.2506-748_2506-737delGTGTGTGTGTGT		PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	22/32						chr4	TogoVar
PDS5A_chr4_39817863_39982911	39895199	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00673.hp1 others(56): Show HG00544.hp2 HG00558.hp2 HG00673.hp1 HG01167.hp1 HG01952.hp2 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02258.hp2 HG02523.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02965.hp2 HG03195.hp1 HG04115.hp1 HG04204.hp2 NA18612.hp1 NA18939.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18954.hp2 NA18956.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18967.hp2 NA18968.hp1 NA18974.hp1 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19065.hp2 NA19068.hp2 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 others(8): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0017 a0001c0002t0019 a0001c0002t0021 a0001c0002t0022 a0001c0002t0024 a0001c0002t0025	a0001c0002t0002g0256 a0001c0002t0002g0296 a0001c0002t0005g0202 others(56): Show a0001c0002t0002g0256 a0001c0002t0002g0296 a0001c0002t0005g0202 a0001c0002t0005g0203 a0001c0002t0005g0204 a0001c0002t0005g0205 a0001c0002t0005g0206 a0001c0002t0005g0207 a0001c0002t0005g0208 a0001c0002t0005g0209 a0001c0002t0005g0210 a0001c0002t0005g0211 a0001c0002t0005g0212 a0001c0002t0005g0213 a0001c0002t0005g0252 a0001c0002t0005g0253 a0001c0002t0005g0254 a0001c0002t0005g0255 a0001c0002t0005g0257 a0001c0002t0005g0258 a0001c0002t0005g0259 a0001c0002t0005g0260 a0001c0002t0005g0261 a0001c0002t0005g0262 a0001c0002t0005g0263 a0001c0002t0005g0264 a0001c0002t0005g0265 a0001c0002t0005g0266 a0001c0002t0005g0267 a0001c0002t0005g0281 a0001c0002t0005g0282 a0001c0002t0005g0283 a0001c0002t0005g0284 a0001c0002t0005g0292 a0001c0002t0005g0293 a0001c0002t0005g0294 a0001c0002t0005g0295 a0001c0002t0005g0297 a0001c0002t0005g0299 a0001c0002t0005g0300 a0001c0002t0008g0302 a0001c0002t0008g0303 a0001c0002t0008g0304 a0001c0002t0008g0306 a0001c0002t0008g0307 a0001c0002t0008g0308 a0001c0002t0008g0310 a0001c0002t0008g0311 a0001c0002t0009g0066 a0001c0002t0009g0068 a0001c0002t0009g0103 a0001c0002t0012g0312 a0001c0002t0012g0345 a0001c0002t0017g0114 a0001c0002t0019g0120 a0001c0002t0021g0215 a0001c0002t0022g0298 a0001c0002t0024g0305 a0001c0002t0025g0356	59	356	0.1657	-12	c.177 others(31): Show c.1770+3178_1770+3189delTTTTTTTTTTTT		PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	16/32						chr4	TogoVar
PDS5A_chr4_39817863_39982911	39899851	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(104): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00673.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01168.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01515.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02258.hp2 HG02300.hp1 HG02523.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02965.hp2 HG03017.hp2 HG03195.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03654.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18988.hp2 NA18992.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0014 a0001c0002 a0001c0009 a0001c0014	a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 others(12): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0002t0021 a0001c0002t0022 a0001c0002t0025 a0001c0009t0003 a0001c0014t0003	a0001c0002t0002g0214 a0001c0002t0002g0256 a0001c0002t0002g0296 others(104): Show a0001c0002t0002g0214 a0001c0002t0002g0256 a0001c0002t0002g0296 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0134 a0001c0002t0003g0135 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0005g0202 a0001c0002t0005g0203 a0001c0002t0005g0204 a0001c0002t0005g0205 a0001c0002t0005g0206 a0001c0002t0005g0207 a0001c0002t0005g0208 a0001c0002t0005g0209 a0001c0002t0005g0210 a0001c0002t0005g0211 a0001c0002t0005g0212 a0001c0002t0005g0213 a0001c0002t0005g0252 a0001c0002t0005g0253 a0001c0002t0005g0254 a0001c0002t0005g0255 a0001c0002t0005g0257 a0001c0002t0005g0258 a0001c0002t0005g0259 a0001c0002t0005g0260 a0001c0002t0005g0261 a0001c0002t0005g0262 a0001c0002t0005g0263 a0001c0002t0005g0264 a0001c0002t0005g0265 a0001c0002t0005g0266 a0001c0002t0005g0267 a0001c0002t0005g0281 a0001c0002t0005g0282 a0001c0002t0005g0283 a0001c0002t0005g0284 a0001c0002t0005g0292 a0001c0002t0005g0293 a0001c0002t0005g0294 a0001c0002t0005g0295 a0001c0002t0005g0297 a0001c0002t0005g0299 a0001c0002t0005g0300 a0001c0002t0008g0302 a0001c0002t0008g0303 a0001c0002t0008g0304 a0001c0002t0008g0306 a0001c0002t0008g0307 a0001c0002t0008g0311 a0001c0002t0009g0066 a0001c0002t0009g0103 a0001c0002t0010g0129 a0001c0002t0010g0140 a0001c0002t0010g0164 a0001c0002t0012g0312 a0001c0002t0012g0345 a0001c0002t0017g0114 a0001c0002t0018g0125 a0001c0002t0019g0120 a0001c0002t0021g0215 a0001c0002t0022g0298 a0001c0002t0025g0356 a0001c0009t0003g0151 a0001c0014t0003g0157	107	356	0.3006	-12	c.158 others(29): Show c.1581+563_1581+574delTTTTTTTTTTTT		PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	14/32						chr4	TogoVar
PDS5A_chr4_39817863_39982911	39929519	CTATATAT others(5): Show CTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00609.hp2 others(47): Show HG00099.hp1 HG00140.hp1 HG00609.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01515.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02080.hp2 HG02258.hp1 HG02451.hp1 HG02735.hp2 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG03942.hp2 HG04199.hp1 NA18747.hp1 NA18943.hp1 NA18948.hp1 NA18949.hp2 NA18956.hp1 NA18961.hp2 NA18962.hp1 NA18966.hp2 NA18973.hp2 NA18983.hp1 NA18988.hp2 NA18992.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp2 NA19058.hp2 NA19065.hp1 NA19070.hp2 NA19079.hp1 NA19084.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0001c0014 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(6): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0010 a0001c0002t0018 a0001c0009t0003 a0001c0014t0003 a0002c0003t0001	a0001c0001t0001g0064 a0001c0002t0002g0214 a0001c0002t0003g0116 others(47): Show a0001c0001t0001g0064 a0001c0002t0002g0214 a0001c0002t0003g0116 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0158 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0163 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0004g0347 a0001c0002t0004g0351 a0001c0002t0010g0129 a0001c0002t0010g0140 a0001c0002t0010g0164 a0001c0002t0018g0125 a0001c0009t0003g0151 a0001c0014t0003g0157 a0002c0003t0001g0067 a0002c0003t0001g0076 a0002c0003t0001g0077	50	356	0.1405	-12	c.139 others(29): Show c.139-1367_139-1356delTATATATATATA		PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32						chr4	TogoVar
PDS5A_chr4_39817863_39982911	39943123	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00609.hp2 others(49): Show HG00099.hp1 HG00140.hp1 HG00609.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01167.hp1 HG01168.hp1 HG01192.hp1 HG01255.hp2 HG01515.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02735.hp2 HG02886.hp1 HG03017.hp2 HG03195.hp1 HG03453.hp2 HG03579.hp1 HG03654.hp2 HG03942.hp2 NA18747.hp1 NA18906.hp2 NA18943.hp1 NA18948.hp1 NA18949.hp2 NA18956.hp1 NA18961.hp2 NA18962.hp1 NA18966.hp2 NA18973.hp2 NA18983.hp1 NA18988.hp2 NA18992.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp2 NA19043.hp2 NA19065.hp1 NA19070.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0014	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0018 a0001c0002t0025 a0001c0009t0003 a0001c0014t0003	a0001c0001t0001g0075 a0001c0001t0006g0234 a0001c0001t0014g0039 others(49): Show a0001c0001t0001g0075 a0001c0001t0006g0234 a0001c0001t0014g0039 a0001c0002t0003g0116 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0126 a0001c0002t0003g0128 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0150 a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0005g0206 a0001c0002t0005g0207 a0001c0002t0008g0304 a0001c0002t0009g0066 a0001c0002t0009g0068 a0001c0002t0009g0103 a0001c0002t0010g0129 a0001c0002t0018g0125 a0001c0002t0025g0356 a0001c0009t0003g0151 a0001c0014t0003g0157	52	356	0.1461	-12	c.139 others(31): Show c.139-14971_139-14960delGTGTGTGTGTGT		PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32						chr4	TogoVar
PDS5A_chr4_39817863_39982911	39970790	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0168 a0001c0002t0003g0168	1	356	0.0028	-12	c.138 others(29): Show c.138+5638_138+5649delAAAAAAAAAAAA		PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32						chr4	TogoVar
PDS5B_chr13_32581452_32783019	32635170	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18979.hp2 NA19060.hp1 HG04204.hp1 NA18979.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0056 a0001c0001t0002 a0001c0001t0056	a0001c0001t0002g0144 a0001c0001t0002g0187 a0001c0001t0056g0183 a0001c0001t0002g0144 a0001c0001t0002g0187 a0001c0001t0056g0183	3	334	0.0090	-12	c.-19 others(31): Show c.-19-13550_-19-13539delTTTTTTTTTTTT		PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34					INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32640242	ATTTTCTT others(5): Show ATTTTCTTTTCTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18522.hp1 HG02922.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0009 a0001c0001t0001g0010	2	334	0.0060	-12	c.-19 others(29): Show c.-19-8502_-19-8491delCTTTTTTCTTTT		PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34					INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32706279	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01928.hp1 HG02293.hp2 others(5): Show HG01257.hp2 HG01928.hp1 HG02293.hp2 HG02717.hp1 HG02970.hp1 HG03239.hp2 HG03486.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0016 a0001c0002t0034 others(2): Show a0001c0001t0002 a0001c0001t0016 a0001c0002t0034 a0001c0004t0002 a0001c0004t0055	a0001c0001t0002g0115 a0001c0001t0016g0294 a0001c0001t0016g0295 others(5): Show a0001c0001t0002g0115 a0001c0001t0016g0294 a0001c0001t0016g0295 a0001c0001t0016g0296 a0001c0002t0034g0210 a0001c0004t0002g0159 a0001c0004t0002g0160 a0001c0004t0055g0161	8	334	0.0240	-12	c.185 others(29): Show c.1857-619_1857-608delTAAATAAATAAA		PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	17/34					INFO_REALIGN_3_PRIME	chr13	TogoVar
PDSS2_chr6_107147562_107464564	107228695	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp1 HG01169.hp1 others(3): Show HG00140.hp2 HG01168.hp1 HG01169.hp1 HG01361.hp2 HG02647.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0128 a0001c0001t0001g0185 a0001c0001t0005g0195 others(3): Show a0001c0001t0001g0128 a0001c0001t0001g0185 a0001c0001t0005g0195 a0001c0001t0006g0131 a0001c0001t0006g0173 a0001c0001t0006g0196	6	260	0.0231	-12	c.703 others(31): Show c.703-16425_703-16414delATTTATTTATTT		PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7						chr6	TogoVar
PDSS2_chr6_107147562_107464564	107228711	TAAATAAA others(5): Show TAAATAAATAAAC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02257.hp1 HG02559.hp2 others(1): Show HG02165.hp1 HG02257.hp1 HG02559.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0126 a0001c0001t0001g0127 others(1): Show a0001c0001t0001g0105 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0132	4	260	0.0154	-12	c.703 others(31): Show c.703-16441_703-16430delGTTTATTTATTT		PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7						chr6	TogoVar
PDSS2_chr6_107147562_107464564	107334526	CGTTGTTG others(5): Show CGTTGTTGTTGTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00673.hp2 others(47): Show HG00408.hp1 HG00558.hp2 HG00673.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01243.hp1 HG01255.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01934.hp1 HG01952.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp2 HG02258.hp1 HG02523.hp2 HG02735.hp2 HG02738.hp1 HG02922.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18942.hp2 NA18943.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp2 NA18962.hp2 NA18970.hp2 NA18982.hp2 NA18984.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp2 NA19000.hp2 NA19057.hp1 NA19066.hp1 NA19077.hp1 NA19084.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0017 a0002c0002t0001 a0002c0002t0002 a0003c0004t0002	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(47): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0073 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0141 a0001c0001t0001g0172 a0001c0001t0002g0012 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0090 a0001c0001t0002g0108 a0001c0001t0004g0026 a0001c0001t0004g0051 a0001c0001t0005g0228 a0001c0001t0011g0033 a0001c0001t0017g0037 a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0002g0005 a0003c0004t0002g0049	50	260	0.1923	-12	c.297 others(27): Show c.297-206_297-195delAACAACAACAAC		PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7						chr6	TogoVar
PDSS2_chr6_107147562_107464564	107336825	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp2 HG00741.hp2 others(21): Show HG00140.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01168.hp1 HG01169.hp1 HG02280.hp2 HG02451.hp1 HG02723.hp2 HG02735.hp1 HG02895.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03579.hp2 HG04115.hp2 NA18943.hp1 NA18975.hp1 NA18991.hp1 NA19007.hp2 NA19030.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0003c0004t0002	a0001c0001t0001g0014 a0001c0001t0001g0065 a0001c0001t0001g0066 others(21): Show a0001c0001t0001g0014 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0110 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0185 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0005g0095 a0001c0001t0005g0195 a0001c0001t0006g0196 a0001c0001t0008g0013 a0001c0001t0010g0094 a0001c0001t0015g0180 a0003c0004t0002g0049	24	260	0.0923	-12	c.297 others(29): Show c.297-2505_297-2494delACACACACACAC		PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7						chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429895	AAAAAAAA others(5): Show AAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	260	0.0039	-12	c.296 others(31): Show c.296+29083_296+29094delATATATTTTTTT		PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7						chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429897	AAAAAATA others(5): Show AAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18977.hp1 NA18991.hp2 NA18957.hp2 NA18977.hp1 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0004g0010 a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0004g0010	3	260	0.0115	-12	c.296 others(31): Show c.296+29081_296+29092delATATATATTTTT		PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7						chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	260	0.0039	-12	c.296 others(31): Show c.296+29077_296+29088delATATATATATAT		PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7						chr6	TogoVar
PDSS2_chr6_107147562_107464564	107435281	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp1 HG01081.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0111 a0001c0001t0001g0112	2	260	0.0077	-12	c.296 others(31): Show c.296+23697_296+23708delGTGTGTGTGTGT		PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7						chr6	TogoVar
PDXDC1_chr16_14970026_15043332	14972327	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02897.hp2 HG03831.hp2 others(1): Show HG02258.hp2 HG02897.hp2 HG03831.hp2 NA18972.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0002c0002t0009 a0001c0001t0002 a0001c0001t0003 a0002c0002t0009	a0001c0001t0002g0215 a0001c0001t0003g0145 a0001c0001t0003g0146 others(1): Show a0001c0001t0002g0215 a0001c0001t0003g0145 a0001c0001t0003g0146 a0002c0002t0009g0030	4	279	0.0143	-12	c.-28 others(23): Show c.-2872_-2861delTGTGTGTGTGTG		PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding					2698		chr16	TogoVar
PDXDC1_chr16_14970026_15043332	14991267	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00733.hp2 HG00738.hp1 others(57): Show HG00597.hp1 HG00733.hp2 HG00738.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01884.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02071.hp2 HG02109.hp1 HG02148.hp1 HG02258.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03490.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18947.hp2 NA18948.hp1 NA18952.hp1 NA18961.hp2 NA18973.hp2 NA18978.hp1 NA18982.hp2 NA18995.hp1 NA19002.hp1 NA19043.hp2 NA19055.hp1 NA19065.hp2 NA19091.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0008	a0001c0001 a0001c0003 a0001c0017 others(5): Show a0001c0001 a0001c0003 a0001c0017 a0002c0002 a0003c0006 a0005c0010 a0006c0008 a0008c0016	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(11): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0021 a0001c0003t0002 a0001c0003t0014 a0001c0017t0015 a0002c0002t0020 a0003c0006t0002 a0005c0010t0005 a0006c0008t0022 a0008c0016t0010	a0001c0001t0002g0175 a0001c0001t0002g0206 a0001c0001t0002g0254 others(57): Show a0001c0001t0002g0175 a0001c0001t0002g0206 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0273 a0001c0001t0005g0114 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0005g0120 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0155 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0005g0169 a0001c0001t0005g0173 a0001c0001t0005g0179 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0007g0265 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0268 a0001c0001t0007g0269 a0001c0001t0007g0270 a0001c0001t0010g0109 a0001c0001t0010g0110 a0001c0001t0012g0119 a0001c0001t0012g0153 a0001c0001t0021g0121 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0182 a0001c0003t0002g0183 a0001c0003t0002g0184 a0001c0003t0002g0186 a0001c0003t0002g0187 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0191 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0202 a0001c0003t0014g0188 a0001c0017t0015g0185 a0002c0002t0020g0085 a0003c0006t0002g0203 a0003c0006t0002g0204 a0003c0006t0002g0205 a0003c0006t0002g0224 a0005c0010t0005g0156 a0006c0008t0022g0087 a0008c0016t0010g0107	60	279	0.2151	-12	c.22- others(27): Show c.22-6458_22-6447delGTGTGTGTGTGT		PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXDC1_chr16_14970026_15043332	15038378	CCCACACA others(5): Show CCCACACACATTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02886.hp2 others(2): Show HG02451.hp2 HG02572.hp1 HG02886.hp2 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0254 a0001c0001t0002g0255 others(2): Show a0001c0001t0002g0175 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258	5	279	0.0179	-12	c.21 others(23): Show c.2104_*2115delCCACACACATTT		PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding					47		chr16	TogoVar
PDXDC1_chr16_14970026_15043332	15042718	CTATTTAT others(5): Show CTATTTATTTATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG02055.hp2 HG02109.hp1 others(20): Show HG01993.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02886.hp2 HG03486.hp1 HG03490.hp1 HG03579.hp1 HG06807.hp2 NA18747.hp1 NA18952.hp1 NA18961.hp2 NA18973.hp2 NA18995.hp1 NA19002.hp1 NA19043.hp2 NA19056.hp1 NA19091.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0003c0006t0002	a0001c0001t0002g0175 a0001c0001t0002g0223 a0001c0001t0002g0254 others(20): Show a0001c0001t0002g0175 a0001c0001t0002g0223 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0273 a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0271 a0001c0001t0005g0275 a0001c0001t0007g0265 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0268 a0001c0001t0007g0269 a0001c0001t0007g0270 a0001c0001t0013g0272 a0003c0006t0002g0203 a0003c0006t0002g0204 a0003c0006t0002g0205 a0003c0006t0002g0224	23	279	0.0824	-12	c.64 others(23): Show c.6444_*6455delTATTTATTTATT		PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding					4387		chr16	TogoVar
PDXK_chr21_43714129_43767299	43730608	TAGTAAAC others(5): Show TAGTAAACTAGGA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0203 a0001c0001t0089g0203	1	358	0.0028	-12	c.88- others(27): Show c.88-3457_88-3446delAAACTAGGAAGT		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43736183	ACCAAACT others(5): Show ACCAAACTCACCT	A A	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	358	0.0028	-12	c.142 others(29): Show c.142+2064_142+2075delAACTCACCTCCA		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741153	CGGGGGGC others(5): Show CGGGGGGCTCGCG	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18952.hp1 HG02083.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0292 a0001c0001t0001g0267 a0001c0001t0001g0292	2	358	0.0056	-12	c.143 others(27): Show c.143-496_143-485delGCTCGCGGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar

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