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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Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PCM1_chr8_17917988_18034948	18011849	CACTTCCA others(23): Show CACTTCCATCAGCCTTATTTTAACTAATCAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02109.hp2 others(18): Show HG01891.hp1 HG01891.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp2	a0002 a0005 a0002 a0005	a0002c0021 a0005c0005 a0002c0021 a0005c0005	a0002c0021t0027 a0005c0005t0008 a0005c0005t0014 others(5): Show a0002c0021t0027 a0005c0005t0008 a0005c0005t0014 a0005c0005t0015 a0005c0005t0027 a0005c0005t0041 a0005c0005t0044 a0005c0005t0055	a0002c0021t0027g0102 a0005c0005t0008g0168 a0005c0005t0008g0169 others(18): Show a0002c0021t0027g0102 a0005c0005t0008g0168 a0005c0005t0008g0169 a0005c0005t0008g0174 a0005c0005t0008g0332 a0005c0005t0008g0333 a0005c0005t0008g0334 a0005c0005t0014g0160 a0005c0005t0014g0163 a0005c0005t0014g0171 a0005c0005t0014g0175 a0005c0005t0014g0176 a0005c0005t0015g0162 a0005c0005t0015g0164 a0005c0005t0015g0165 a0005c0005t0015g0166 a0005c0005t0015g0173 a0005c0005t0027g0170 a0005c0005t0041g0161 a0005c0005t0044g0335 a0005c0005t0055g0167	21	368	0.0571	-30	c.551 others(45): Show c.5511+54_5511+83delCTTCCATCAGCCTTATTTTAACTAATCAAA	PCM1	ENSG00000078674.20	transcript	ENST00000325083.13	protein_coding	34/38		INFO_REALIGN_3_PRIME	chr8	TogoVar
PCNT_chr21_46319156_46450769	46414675	CCTCCTCC others(23): Show CCTCCTCCTCCTGGACACACAGCTGCCCACA	C C	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0195	1	332	0.0030	-30	c.615 others(49): Show c.6151-1364_6151-1335delACTCCTCCTCCTGGACACACAGCTGC CCAC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46414705	ACTCCTCC others(23): Show ACTCCTCCTCCTGGACACACAGCTGCCCACC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(43): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0017 a0019 a0020 a0022 a0023 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0038 a0039 a0040 a0042 a0043 a0049 a0050 a0051 a0052 a0054 a0057 a0058 a0059 a0062 a0065 a0066 a0067 a0068	a0002c0002 a0002c0018 a0002c0022 others(57): Show a0002c0002 a0002c0018 a0002c0022 a0002c0032 a0002c0036 a0002c0047 a0003c0003 a0003c0080 a0003c0084 a0004c0004 a0004c0023 a0004c0071 a0005c0008 a0005c0016 a0005c0024 a0006c0006 a0006c0017 a0006c0027 a0007c0005 a0008c0007 a0009c0009 a0010c0010 a0011c0011 a0012c0013 a0013c0015 a0014c0014 a0017c0031 a0017c0050 a0019c0028 a0020c0033 a0022c0034 a0023c0037 a0027c0090 a0028c0040 a0029c0039 a0030c0041 a0031c0085 a0032c0083 a0033c0081 a0034c0082 a0035c0079 a0036c0078 a0038c0070 a0039c0068 a0040c0072 a0042c0043 a0043c0049 a0049c0046 a0050c0048 a0051c0067 a0052c0045 a0054c0060 a0057c0051 a0058c0044 a0059c0052 a0062c0077 a0065c0042 a0066c0086 a0067c0087 a0068c0088	a0002c0002t0001 a0002c0018t0001 a0002c0022t0001 others(61): Show a0002c0002t0001 a0002c0018t0001 a0002c0022t0001 a0002c0032t0001 a0002c0036t0001 a0002c0047t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0080t0001 a0003c0084t0001 a0004c0004t0001 a0004c0004t0003 a0004c0004t0006 a0004c0023t0003 a0004c0071t0001 a0005c0008t0001 a0005c0016t0001 a0005c0024t0001 a0006c0006t0001 a0006c0017t0001 a0006c0027t0001 a0007c0005t0001 a0008c0007t0001 a0009c0009t0001 a0010c0010t0001 a0011c0011t0001 a0012c0013t0002 a0013c0015t0001 a0014c0014t0004 a0017c0031t0001 a0017c0050t0001 a0019c0028t0001 a0020c0033t0001 a0022c0034t0001 a0023c0037t0001 a0027c0090t0001 a0028c0040t0001 a0029c0039t0001 a0030c0041t0001 a0031c0085t0001 a0032c0083t0001 a0033c0081t0001 a0034c0082t0001 a0035c0079t0002 a0036c0078t0001 a0038c0070t0001 a0039c0068t0001 a0040c0072t0001 a0042c0043t0001 a0043c0049t0001 a0049c0046t0001 a0050c0048t0001 a0051c0067t0001 a0052c0045t0001 a0054c0060t0001 a0057c0051t0001 a0058c0044t0001 a0059c0052t0001 a0062c0077t0001 a0065c0042t0001 a0066c0086t0001 a0067c0087t0001 a0068c0088t0001	a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 others(208): Show a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0082 a0002c0002t0001g0138 a0002c0002t0001g0146 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0188 a0002c0002t0001g0191 a0002c0002t0001g0193 a0002c0002t0001g0196 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0208 a0002c0002t0001g0214 a0002c0002t0001g0219 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0018t0001g0001 a0002c0018t0001g0002 a0002c0018t0001g0050 a0002c0022t0001g0247 a0002c0022t0001g0259 a0002c0022t0001g0305 a0002c0032t0001g0043 a0002c0032t0001g0045 a0002c0036t0001g0177 a0002c0036t0001g0178 a0002c0047t0001g0140 a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0147 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0158 a0003c0003t0001g0162 a0003c0003t0001g0164 a0003c0003t0001g0165 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0002g0157 a0003c0003t0005g0170 a0003c0080t0001g0161 a0003c0084t0001g0163 a0004c0004t0001g0089 a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0001g0098 a0004c0004t0001g0099 a0004c0004t0001g0100 a0004c0004t0001g0102 a0004c0004t0001g0103 a0004c0004t0001g0105 a0004c0004t0003g0119 a0004c0004t0006g0101 a0004c0023t0003g0091 a0004c0023t0003g0092 a0004c0023t0003g0093 a0004c0071t0001g0106 a0005c0008t0001g0083 a0005c0008t0001g0085 a0005c0008t0001g0086 a0005c0008t0001g0087 a0005c0016t0001g0113 a0005c0016t0001g0114 a0005c0024t0001g0070 a0005c0024t0001g0071 a0005c0024t0001g0072 a0006c0006t0001g0013 a0006c0006t0001g0015 a0006c0006t0001g0016 a0006c0006t0001g0019 a0006c0006t0001g0021 a0006c0006t0001g0023 a0006c0006t0001g0081 a0006c0017t0001g0014 a0006c0017t0001g0020 a0006c0017t0001g0022 a0006c0027t0001g0017 a0006c0027t0001g0018 a0007c0005t0001g0024 a0007c0005t0001g0025 a0007c0005t0001g0026 a0007c0005t0001g0027 a0007c0005t0001g0028 a0007c0005t0001g0029 a0007c0005t0001g0030 a0007c0005t0001g0031 a0007c0005t0001g0032 a0007c0005t0001g0033 a0008c0007t0001g0003 a0008c0007t0001g0004 a0008c0007t0001g0005 a0008c0007t0001g0007 a0008c0007t0001g0008 a0008c0007t0001g0009 a0008c0007t0001g0010 a0009c0009t0001g0126 a0009c0009t0001g0127 a0009c0009t0001g0128 a0009c0009t0001g0129 a0009c0009t0001g0130 a0009c0009t0001g0131 a0010c0010t0001g0137 a0010c0010t0001g0148 a0010c0010t0001g0149 a0010c0010t0001g0150 a0010c0010t0001g0220 a0010c0010t0001g0225 a0011c0011t0001g0074 a0011c0011t0001g0075 a0011c0011t0001g0076 a0011c0011t0001g0077 a0011c0011t0001g0078 a0011c0011t0001g0079 a0012c0013t0002g0144 a0012c0013t0002g0145 a0012c0013t0002g0174 a0012c0013t0002g0175 a0012c0013t0002g0176 a0013c0015t0001g0226 a0013c0015t0001g0227 a0013c0015t0001g0228 a0013c0015t0001g0229 a0014c0014t0004g0329 a0014c0014t0004g0330 a0014c0014t0004g0332 a0017c0031t0001g0039 a0017c0031t0001g0064 a0017c0050t0001g0185 a0019c0028t0001g0327 a0019c0028t0001g0328 a0020c0033t0001g0141 a0020c0033t0001g0192 a0022c0034t0001g0324 a0022c0034t0001g0325 a0023c0037t0001g0189 a0023c0037t0001g0190 a0027c0090t0001g0230 a0028c0040t0001g0012 a0029c0039t0001g0011 a0030c0041t0001g0159 a0031c0085t0001g0167 a0032c0083t0001g0209 a0033c0081t0001g0221 a0034c0082t0001g0218 a0035c0079t0002g0160 a0036c0078t0001g0166 a0038c0070t0001g0115 a0039c0068t0001g0069 a0040c0072t0001g0107 a0042c0043t0001g0059 a0043c0049t0001g0047 a0049c0046t0001g0006 a0050c0048t0001g0186 a0051c0067t0001g0316 a0052c0045t0001g0197 a0054c0060t0001g0290 a0057c0051t0001g0194 a0058c0044t0001g0049 a0059c0052t0001g0034 a0062c0077t0001g0182 a0065c0042t0001g0187 a0066c0086t0001g0068 a0067c0087t0001g0080 a0068c0088t0001g0073	211	332	0.6355	-30	c.615 others(49): Show c.6151-1346_6151-1317delACAGCTGCCCACCCTCCTCCTCCTGG ACAC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNX1_chr14_70902459_71120382	70949240	TACACACG others(23): Show TACACACGTGTATACACACACACGTGTATGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00639.hp2 others(53): Show HG00140.hp2 HG00558.hp2 HG00639.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG01952.hp2 HG02040.hp2 HG02074.hp2 HG02132.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02559.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18964.hp1 NA18970.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA19000.hp2 NA19054.hp2 NA19060.hp2 NA19076.hp1 NA19081.hp2 NA20905.hp2	a0001 a0006 a0012 others(1): Show a0001 a0006 a0012 a0014	a0001c0001 a0001c0006 a0001c0020 others(3): Show a0001c0001 a0001c0006 a0001c0020 a0006c0012 a0012c0021 a0014c0015	a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 others(17): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 a0001c0001t0020 a0001c0001t0024 a0001c0001t0033 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0006t0029 a0001c0006t0062 a0001c0020t0010 a0006c0012t0002 a0012c0021t0017 a0014c0015t0063	a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0010 others(53): Show a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0119 a0001c0001t0010g0162 a0001c0001t0017g0009 a0001c0001t0017g0035 a0001c0001t0017g0049 a0001c0001t0020g0022 a0001c0001t0020g0024 a0001c0001t0020g0025 a0001c0001t0024g0051 a0001c0001t0024g0052 a0001c0001t0033g0003 a0001c0001t0037g0046 a0001c0001t0038g0036 a0001c0001t0039g0006 a0001c0001t0040g0005 a0001c0001t0042g0034 a0001c0001t0043g0023 a0001c0001t0044g0012 a0001c0001t0045g0008 a0001c0006t0029g0122 a0001c0006t0029g0132 a0001c0006t0062g0130 a0001c0020t0010g0210 a0006c0012t0002g0044 a0006c0012t0002g0045 a0012c0021t0017g0039 a0014c0015t0063g0131	56	352	0.1591	-30	c.362 others(47): Show c.362+2138_362+2167delACGTGTATGCACACACGTGTATACACAC AC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70949268	TGCACACA others(23): Show TGCACACACGTGTATACACACACGTGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0051 a0001c0026t0051	a0001c0026t0051g0133 a0001c0026t0051g0133	1	352	0.0028	-30	c.362 others(47): Show c.362+2146_362+2175delGCACACACGTGTATACACACACGTGTGT AC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	2/35			chr14	TogoVar
PCNX1_chr14_70902459_71120382	71006092	CGTGTGTG others(23): Show CGTGTGTGTGTCTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0041 a0013c0018t0041	a0013c0018t0041g0053 a0013c0018t0041g0053	1	352	0.0028	-30	c.263 others(49): Show c.2630-3531_2630-3502delCTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	8/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	71006103	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG03209.hp2 NA18522.hp1 HG00733.hp1 HG03209.hp2 NA18522.hp1	a0004 a0009 a0004 a0009	a0004c0011 a0009c0024 a0004c0011 a0009c0024	a0004c0011t0032 a0009c0024t0065 a0004c0011t0032 a0009c0024t0065	a0004c0011t0032g0112 a0004c0011t0032g0113 a0009c0024t0065g0114 a0004c0011t0032g0112 a0004c0011t0032g0113 a0009c0024t0065g0114	3	352	0.0085	-30	c.263 others(49): Show c.2630-3493_2630-3464delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	8/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCP4_chr21_39862438_39934392	39880168	ATCTATAT others(23): Show ATCTATATCTATATCTATATCTATCTATATC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG02723.hp2 others(2): Show HG02257.hp1 HG02717.hp1 HG02723.hp2 HG03209.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0371 others(2): Show a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373	5	428	0.0117	-30	c.9+1 others(45): Show c.9+12660_9+12689delCTATATCTATATCTATATCTATCTATATCT	PCP4	ENSG00000183036.11	transcript	ENST00000328619.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK2_chr20_17222040_17489578	17347852	GAAAGAAA others(23): Show GAAAGAAAGAGGAGAGAGAAAAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0080 a0001c0001t0006g0080	1	274	0.0037	-30	c.283 others(49): Show c.283-10473_283-10444delAAGAAAGAGGAGAGAGAAAAAAGAAA GAAA	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK2_chr20_17222040_17489578	17347934	GAGAAAGA others(23): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	274	0.0037	-30	c.283 others(49): Show c.283-10373_283-10344delAAGAAAGAGAAAGAAAGAAAGAAAGA AAGA	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK5_chr9_75885673_76367975	76040355	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp2 HG01255.hp1 others(2): Show HG00642.hp1 HG01081.hp2 HG01255.hp1 HG02145.hp2 HG02897.hp2	a0001 a0008 a0013 others(1): Show a0001 a0008 a0013 a0021	a0001c0001 a0001c0063 a0008c0060 others(2): Show a0001c0001 a0001c0063 a0008c0060 a0013c0029 a0021c0099	a0001c0001t0008 a0001c0063t0003 a0008c0060t0043 others(2): Show a0001c0001t0008 a0001c0063t0003 a0008c0060t0043 a0013c0029t0009 a0021c0099t0030	a0001c0001t0008g0107 a0001c0063t0003g0066 a0008c0060t0043g0166 others(2): Show a0001c0001t0008g0107 a0001c0063t0003g0066 a0008c0060t0043g0166 a0013c0029t0009g0119 a0021c0099t0030g0140	5	166	0.0301	-30	c.632 others(49): Show c.632+13347_632+13376delTGTCTCTCTCTCTCTCTCTCTCTCTC TCTC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76175222	AAATGGAA others(23): Show AAATGGAATGGAATGAAATGGAATGGAATGG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0051 a0003c0051	a0003c0051t0013 a0003c0051t0013	a0003c0051t0013g0121 a0003c0051t0013g0121	1	166	0.0060	-30	c.190 others(47): Show c.1900+108_1900+137delAAATGGAATGGAATGGAATGGAATGGAA TG	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCYT1B_chrX_24553087_24652347	24593441	CTTTCTTT others(23): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(68): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp1 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02735.hp1 HG03017.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03710.hp1 HG03834.hp2 HG03942.hp1 NA18612.hp1 NA18940.hp1 NA18954.hp1 NA18956.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18989.hp1 NA18998.hp1 NA18998.hp2 NA19002.hp2 NA19011.hp2 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19067.hp1 NA19070.hp1 NA19072.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA20752.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0003 a0001c0001 a0001c0005 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0037 a0001c0001t0040 a0001c0001t0042 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0053 a0001c0001t0061 a0001c0001t0062 a0001c0001t0103 a0001c0001t0104 a0001c0005t0001 a0003c0003t0002	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 others(65): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0062 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0004g0222 a0001c0001t0009g0041 a0001c0001t0009g0051 a0001c0001t0009g0052 a0001c0001t0012g0001 a0001c0001t0012g0221 a0001c0001t0018g0058 a0001c0001t0018g0091 a0001c0001t0019g0109 a0001c0001t0020g0142 a0001c0001t0025g0048 a0001c0001t0027g0105 a0001c0001t0028g0073 a0001c0001t0029g0063 a0001c0001t0030g0082 a0001c0001t0031g0131 a0001c0001t0031g0132 a0001c0001t0037g0006 a0001c0001t0040g0046 a0001c0001t0042g0035 a0001c0001t0048g0088 a0001c0001t0049g0050 a0001c0001t0050g0017 a0001c0001t0053g0130 a0001c0001t0061g0029 a0001c0001t0062g0133 a0001c0001t0103g0213 a0001c0001t0104g0254 a0001c0005t0001g0112 a0003c0003t0002g0045	71	260	0.2731	-30	c.335 others(47): Show c.335-3297_335-3268delAGAAAAGAAAAGAAAAGAAAAGAAAAGA AA	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	3/7			chrX	TogoVar
PC_chr11_66843420_66963383	66946088	GTCTCAAA others(23): Show GTCTCAAAAAAAAAAAAAAAAAAAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	274	0.0037	-30	c.-1+ others(45): Show c.-1+6312_-1+6341delTTTCTTTTTTTTTTTTTTTTTTTTTTGAGA	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding	3/22			chr11	TogoVar
PDE11A_chr2_177618244_178077777	177631494	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0030	1	170	0.0059	-30	c.264 others(49): Show c.2647-1962_2647-1933delATATATATATATTTTTTTTTTTTTTT TTTT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	19/19			chr2	TogoVar
PDE1A_chr2_182135041_182432036	182385704	GCTCTCCC others(23): Show GCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02647.hp1 HG02818.hp1 others(21): Show HG01169.hp2 HG02647.hp1 HG02818.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03654.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp1 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18989.hp2 NA18995.hp2 NA19010.hp1 NA19010.hp2 NA19066.hp1 NA19082.hp1 NA19091.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0003 a0001c0001 a0005c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0001c0001t0027 a0001c0001t0030 a0001c0001t0050 a0005c0003t0013	a0001c0001t0001g0162 a0001c0001t0001g0195 a0001c0001t0001g0196 others(21): Show a0001c0001t0001g0162 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0002g0009 a0001c0001t0003g0004 a0001c0001t0003g0202 a0001c0001t0006g0194 a0001c0001t0006g0213 a0001c0001t0006g0244 a0001c0001t0009g0236 a0001c0001t0011g0012 a0001c0001t0011g0052 a0001c0001t0013g0197 a0001c0001t0018g0222 a0001c0001t0021g0203 a0001c0001t0021g0220 a0001c0001t0027g0086 a0001c0001t0030g0225 a0001c0001t0050g0264 a0005c0003t0013g0212	24	264	0.0909	-30	c.53+ others(47): Show c.53+40844_53+40873delGAGGGAGAGGGAGAGGAGGGAGAGGGAG AG	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE3A_chr12_20363537_20693583	20663447	AGGGGAGG others(23): Show AGGGGAGGTGCTGTACCCTGCAAAGCCACAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01074.hp1 others(2): Show HG00099.hp1 HG00642.hp2 HG01074.hp1 HG01074.hp2 HG01168.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0001c0001t0011 a0001c0001t0053 others(1): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0053 a0002c0004t0134	a0001c0001t0005g0005 a0001c0001t0005g0192 a0001c0001t0011g0011 others(2): Show a0001c0001t0005g0005 a0001c0001t0005g0192 a0001c0001t0011g0011 a0001c0001t0053g0127 a0002c0004t0134g0084	5	198	0.0253	-30	c.318 others(49): Show c.3184+9246_3184+9275delGAGGTGCTGTACCCTGCAAAGCCACA GGGG	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE6A_chr5_149852953_149949793	149923503	AATAACAT others(23): Show AATAACATAACATAACATAACATAACATAAC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0074 a0001c0005t0074	a0001c0005t0074g0322 a0001c0005t0074g0322	1	328	0.0031	-30	c.859 others(47): Show c.859-1824_859-1795delGTTATGTTATGTTATGTTATGTTATGTT AT	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6G_chr17_81645459_81661542	81657320	TTCCTGAG others(23): Show TTCCTGAGGGGCCTGGAGGAGGCTATGCCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00544.hp2 others(61): Show HG00099.hp1 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00738.hp1 HG01358.hp2 HG01515.hp1 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02083.hp2 HG02486.hp1 HG02523.hp1 HG02683.hp1 HG02738.hp2 HG02886.hp1 HG03139.hp1 HG03471.hp1 HG03669.hp2 NA18939.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18959.hp1 NA18962.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18973.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp2 NA19062.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0003 a0001c0001 a0001c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 a0003c0003t0002	a0001c0001t0001g0018 a0001c0001t0002g0002 a0001c0001t0002g0075 others(10): Show a0001c0001t0001g0018 a0001c0001t0002g0002 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0006g0012 a0001c0001t0006g0078 a0001c0002t0002g0010 a0003c0003t0002g0082	64	434	0.1475	-30	c.-91 others(39): Show c.-917_-888delTGGGCATAGCCTCCTCCAGGCCCCTCAGGA	PDE6G	ENSG00000185527.12	transcript	ENST00000331056.10	protein_coding		779		chr17	TogoVar
PDE8A_chr15_84976856_85144142	85066583	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03130.hp2 HG02055.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0276 a0001c0001t0001g0277	2	344	0.0058	-30	c.244 others(45): Show c.244-401_244-372delCACACACACACACACACACACACACACACA	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDGFB_chr22_39218359_39249982	39247877	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 NA18978.hp1 HG04184.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0221 a0001c0001t0003g0005 a0001c0001t0002g0221 a0001c0001t0003g0005	2	386	0.0052	-30	c.-39 others(41): Show c.-3944_-3915delATATATATATATATATATTTTTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2896		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247881	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00673.hp2 NA19004.hp2 HG00408.hp1 HG00673.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0226 a0001c0001t0016g0225 a0001c0001t0016g0229 a0001c0001t0002g0226 a0001c0001t0016g0225 a0001c0001t0016g0229	3	386	0.0078	-30	c.-39 others(41): Show c.-3948_-3919delATATATATATATATATATATATTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2900		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247887	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 NA20905.hp2 HG03710.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0233 a0001c0001t0007g0222 a0001c0001t0002g0233 a0001c0001t0007g0222	2	386	0.0052	-30	c.-39 others(41): Show c.-3954_-3925delATATATATATATATATATATATATATATTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2906		chr22	TogoVar
PDGFC_chr4_156755454_156976799	156824319	TATATATA others(23): Show TATATATATACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0176	1	208	0.0048	-30	c.315 others(49): Show c.315-13332_315-13303delGTGTGTGTGTGTGTGTGTGTGTATAT ATAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825578	TAATAATA others(23): Show TAATAATAATAATAATAAGAAGAAGAAGAAG	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0092 a0001c0001t0011g0092	1	208	0.0048	-30	c.315 others(49): Show c.315-14591_315-14562delCTTCTTCTTCTTCTTATTATTATTAT TATT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825581	TAATAATA others(23): Show TAATAATAATAATAAGAAGAAGAAGAAGAAG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18986.hp1 HG02717.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0198 a0001c0001t0011g0091 a0001c0001t0003g0198 a0001c0001t0011g0091	2	208	0.0096	-30	c.315 others(49): Show c.315-14594_315-14565delCTTCTTCTTCTTCTTCTTATTATTAT TATT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156891279	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0177 a0001c0003t0029g0177	1	208	0.0048	-30	c.119 others(49): Show c.119-40893_119-40864delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156945342	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0004 a0001c0001t0020g0004	1	208	0.0048	-30	c.118 others(49): Show c.118+25414_118+25443delATATATATATATATATATATATATAT ATAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156974933	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG00741.hp2 others(91): Show HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG02015.hp2 HG02129.hp1 HG02155.hp1 HG02155.hp2 HG02559.hp1 HG02572.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18972.hp1 NA18977.hp1 NA18985.hp2 NA18986.hp2 NA18998.hp1 NA19002.hp2 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19062.hp2 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19090.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0003t0029	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 others(91): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0087 a0001c0001t0002g0094 a0001c0001t0002g0111 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0142 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0004g0137 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0006g0033 a0001c0001t0006g0156 a0001c0001t0007g0208 a0001c0001t0008g0119 a0001c0001t0008g0121 a0001c0001t0009g0035 a0001c0001t0009g0099 a0001c0001t0011g0091 a0001c0001t0011g0092 a0001c0001t0011g0098 a0001c0001t0013g0064 a0001c0001t0013g0140 a0001c0001t0014g0053 a0001c0001t0014g0054 a0001c0001t0015g0027 a0001c0001t0019g0003 a0001c0001t0022g0057 a0001c0001t0027g0133 a0001c0001t0028g0085 a0001c0001t0031g0023 a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0040 a0001c0002t0002g0052 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0071 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0086 a0001c0002t0002g0088 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0100 a0001c0002t0002g0115 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0164 a0001c0002t0002g0167 a0001c0002t0005g0070 a0001c0002t0006g0038 a0001c0003t0029g0177	94	208	0.4519	-30	c.-40 others(41): Show c.-4060_-4031delATATATATATATATATATATATATATATAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding		3135		chr4	TogoVar
PDGFRL_chr8_17572216_17648144	17638738	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19081.hp2 NA18973.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0363 a0001c0001t0001g0364	2	400	0.0050	-30	c.940 others(47): Show c.940-3855_940-3826delTATATATATATATATATATATATATATA TA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDK4_chr7_95578499_95601516	95580039	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 NA21309.hp1 HG00738.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0032 a0001c0001t0025 a0001c0001t0032	a0001c0001t0025g0065 a0001c0001t0032g0101 a0001c0001t0025g0065 a0001c0001t0032g0101	2	384	0.0052	-30	c.55 others(41): Show c.5572_*5601delTATATATATATATATATATATATATATATA	PDK4	ENSG00000004799.8	transcript	ENST00000005178.6	protein_coding		3459		chr7	TogoVar
PDLIM2_chr8_22575475_22599298	22579844	TGGGAGGC others(23): Show TGGGAGGCCTGTCACCCCGGCTGTCTGTCGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	380	0.0026	-30	c.-76 others(39): Show c.-760_-731delGGGAGGCCTGTCACCCCGGCTGTCTGTCGG	PDLIM2	ENSG00000120913.24	transcript	ENST00000409417.6	protein_coding		630		chr8	TogoVar
PDP2_chr16_66875515_66896101	66893498	GATATATA others(23): Show GATATATATGTGTGTATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG01256.hp1 others(1): Show HG00423.hp1 HG00597.hp1 HG01256.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0006t0046 a0001c0001t0003 a0001c0006t0046	a0001c0001t0003g0002 a0001c0001t0003g0015 a0001c0006t0046g0025 a0001c0001t0003g0002 a0001c0001t0003g0015 a0001c0006t0046g0025	4	356	0.0112	-30	c.76 others(41): Show c.7625_*7654delATATATATGTGTGTATATATATATATATAT	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding		2398		chr16	TogoVar
PDS5A_chr4_39817863_39982911	39817880	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18961.hp1 NA19005.hp1 others(1): Show NA18956.hp2 NA18961.hp1 NA19005.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0303 a0001c0002t0008g0304 a0001c0002t0008g0306 others(1): Show a0001c0002t0008g0303 a0001c0002t0008g0304 a0001c0002t0008g0306 a0001c0002t0008g0311	4	356	0.0112	-30	c.75 others(41): Show c.7575_*7604delTATATATATATATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding		4982		chr4	TogoVar
PDS5B_chr13_32581452_32783019	32635170	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19000.hp2 NA19070.hp2 HG02135.hp2 NA19000.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0045 a0001c0001t0026g0087 a0001c0001t0026g0088 a0001c0001t0001g0045 a0001c0001t0026g0087 a0001c0001t0026g0088	3	334	0.0090	-30	c.-19 others(49): Show c.-19-13568_-19-13539delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDZD2_chr5_31634131_32115932	31658522	CACCATGT others(23): Show CACCATGTTTAAACCTCCCCCTTCTTTAACT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0012 a0003c0008t0012	a0003c0008t0012g0020 a0003c0008t0012g0020	1	216	0.0046	-30	c.-36 others(51): Show c.-361+19087_-361+19116delCCATGTTTAAACCTCCCCCTTCTT TAACTA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31849891	CATATATA others(23): Show CATATATATATATACATATATATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	216	0.0046	-30	c.476 others(49): Show c.476+50179_476+50208delTACATATATATATATACATATATATA TATA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31849903	TACATATA others(23): Show TACATATATATATATACATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01074.hp1 HG01168.hp2 others(9): Show HG00438.hp1 HG01074.hp1 HG01168.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp2 HG01433.hp1 HG02027.hp1 HG02040.hp1 HG02602.hp1 HG03710.hp1 HG03834.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0016	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0003c0027 a0016c0032	a0001c0001t0001 a0001c0001t0006 a0002c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0002 a0002c0002t0005 a0002c0003t0001 a0002c0003t0002 a0003c0004t0027 a0003c0027t0012 a0016c0032t0001	a0001c0001t0001g0066 a0001c0001t0001g0096 a0001c0001t0001g0098 others(9): Show a0001c0001t0001g0066 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0194 a0001c0001t0006g0041 a0002c0002t0002g0050 a0002c0002t0005g0007 a0002c0003t0001g0118 a0002c0003t0002g0049 a0003c0004t0027g0101 a0003c0027t0012g0015 a0016c0032t0001g0048	12	216	0.0556	-30	c.476 others(49): Show c.476+50257_476+50286delTATATATATATACACATATATATATA TACA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD7_chr10_101002679_101036129	101017833	AGGAAGGA others(23): Show AGGAAGGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	432	0.0023	-30	c.152 others(47): Show c.1522+236_1522+265delCTTTCTTTCTTTCTTTCTTTCTTTCCTT CC	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PDZD8_chr10_117272274_117380440	117357766	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	322	0.0031	-30	c.872 others(49): Show c.872+16560_872+16589delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4			chr10	TogoVar
PDZRN4_chr12_41183320_41579745	41559444	TCTGAATC others(23): Show TCTGAATCAGATAACAAGAGTAAAAGACCAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0020 a0020	a0020c0033 a0020c0033	a0020c0033t0006 a0020c0033t0006	a0020c0033t0006g0093 a0020c0033t0006g0093	1	206	0.0049	-30	c.136 others(49): Show c.1365+3685_1365+3714delCTGAATCAGATAACAAGAGTAAAAGA CCAC	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	7/9			chr12	TogoVar
PEAK1_chr15_77103158_77425104	77250175	GTATATGT others(23): Show GTATATGTATATATATACATATATATACATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01074.hp2 others(8): Show HG00642.hp1 HG00741.hp2 HG01074.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01515.hp2 HG01943.hp2 HG02300.hp2 HG02698.hp1 HG04204.hp1	a0003 a0011 a0003 a0011	a0003c0003 a0011c0019 a0003c0003 a0011c0019	a0003c0003t0002 a0003c0003t0014 a0003c0003t0025 others(4): Show a0003c0003t0002 a0003c0003t0014 a0003c0003t0025 a0003c0003t0039 a0003c0003t0042 a0003c0003t0047 a0011c0019t0002	a0003c0003t0002g0114 a0003c0003t0002g0139 a0003c0003t0002g0178 others(8): Show a0003c0003t0002g0114 a0003c0003t0002g0139 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0014g0004 a0003c0003t0025g0142 a0003c0003t0025g0146 a0003c0003t0039g0116 a0003c0003t0042g0119 a0003c0003t0047g0141 a0011c0019t0002g0003	11	326	0.0337	-30	c.-11 others(49): Show c.-115+2162_-115+2191delTATGTATATATATGTATATATATACA TATA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77313678	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTATATATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	326	0.0031	-30	c.-60 others(51): Show c.-602-27204_-602-27175delTACATATATATATATACACACACA CACACA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77407932	CACACATA others(23): Show CACACATATATACACATATACACACATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00621.hp2 others(65): Show HG00280.hp2 HG00423.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp2 HG01943.hp2 HG02083.hp1 HG02280.hp2 HG02300.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02896.hp1 HG02922.hp2 HG03017.hp1 HG03453.hp1 HG03654.hp2 HG03710.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp2 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18955.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18980.hp1 NA18985.hp1 NA18989.hp1 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19011.hp2 NA19030.hp1 NA19060.hp1 NA19065.hp1 NA19084.hp1 NA19085.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1	a0003 a0008 a0011 a0003 a0008 a0011	a0003c0003 a0003c0008 a0008c0010 others(1): Show a0003c0003 a0003c0008 a0008c0010 a0011c0019	a0003c0003t0002 a0003c0003t0006 a0003c0003t0014 others(11): Show a0003c0003t0002 a0003c0003t0006 a0003c0003t0014 a0003c0003t0017 a0003c0003t0022 a0003c0003t0025 a0003c0003t0038 a0003c0003t0039 a0003c0003t0042 a0003c0003t0043 a0003c0003t0047 a0003c0008t0002 a0008c0010t0017 a0011c0019t0002	a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0117 others(65): Show a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0117 a0003c0003t0002g0120 a0003c0003t0002g0121 a0003c0003t0002g0124 a0003c0003t0002g0125 a0003c0003t0002g0126 a0003c0003t0002g0127 a0003c0003t0002g0128 a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0136 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0139 a0003c0003t0002g0144 a0003c0003t0002g0147 a0003c0003t0002g0150 a0003c0003t0002g0151 a0003c0003t0002g0152 a0003c0003t0002g0153 a0003c0003t0002g0154 a0003c0003t0002g0155 a0003c0003t0002g0156 a0003c0003t0002g0157 a0003c0003t0002g0158 a0003c0003t0002g0159 a0003c0003t0002g0160 a0003c0003t0002g0161 a0003c0003t0002g0162 a0003c0003t0002g0163 a0003c0003t0002g0165 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0006g0115 a0003c0003t0006g0140 a0003c0003t0006g0143 a0003c0003t0006g0169 a0003c0003t0006g0170 a0003c0003t0006g0171 a0003c0003t0006g0172 a0003c0003t0006g0173 a0003c0003t0006g0174 a0003c0003t0006g0175 a0003c0003t0014g0004 a0003c0003t0014g0149 a0003c0003t0014g0166 a0003c0003t0014g0167 a0003c0003t0017g0118 a0003c0003t0022g0168 a0003c0003t0022g0177 a0003c0003t0025g0142 a0003c0003t0025g0146 a0003c0003t0038g0123 a0003c0003t0039g0116 a0003c0003t0042g0119 a0003c0003t0043g0176 a0003c0003t0047g0141 a0003c0008t0002g0134 a0003c0008t0002g0135 a0003c0008t0002g0164 a0008c0010t0017g0122 a0008c0010t0017g0148 a0011c0019t0002g0003	68	326	0.2086	-30	c.-66 others(51): Show c.-666+12044_-666+12073delATATATGTGTGTATATGTGTATAT ATGTGT	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	1/9			chr15	TogoVar
PEMT_chr17_17500563_17596708	17586197	GGAAAGAA others(23): Show GGAAAGAAAGAAAGAAAGAAAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0011 a0005c0006t0001g0011	1	348	0.0029	-30	c.96+ others(45): Show c.96+5304_96+5333delTTTCTTTCTTTTTCTTTCTTTCTTTCTTTC	PEMT	ENSG00000133027.18	transcript	ENST00000255389.10	protein_coding	1/6			chr17	TogoVar
PEMT_chr17_17500563_17596708	17586264	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0153	1	348	0.0029	-30	c.96+ others(45): Show c.96+5237_96+5266delTTTTTTCTTTCTTTCTTTCTTTCTTTCTTT	PEMT	ENSG00000133027.18	transcript	ENST00000255389.10	protein_coding	1/6			chr17	TogoVar
PERM1_chr1_970198_987093	977935	GCAACCCC others(23): Show GCAACCCCGGGAACCGCCTGCCCCCACCGAC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG00735.hp1 others(26): Show HG00323.hp1 HG00558.hp2 HG00735.hp1 HG00741.hp2 HG01109.hp1 HG01167.hp1 HG01257.hp1 HG01346.hp1 HG01517.hp2 HG01891.hp2 HG02074.hp1 HG02809.hp2 HG03486.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18906.hp1 NA18939.hp1 NA18959.hp2 NA18965.hp2 NA19000.hp2 NA19054.hp2 NA20805.hp1 NA21309.hp2	a0003 a0012 a0003 a0012	a0003c0003 a0003c0016 a0012c0019 a0003c0003 a0003c0016 a0012c0019	a0003c0003t0004 a0003c0003t0020 a0003c0016t0004 others(1): Show a0003c0003t0004 a0003c0003t0020 a0003c0016t0004 a0012c0019t0001	a0003c0003t0004g0014 a0003c0003t0004g0015 a0003c0003t0004g0021 others(17): Show a0003c0003t0004g0014 a0003c0003t0004g0015 a0003c0003t0004g0021 a0003c0003t0004g0022 a0003c0003t0004g0023 a0003c0003t0004g0024 a0003c0003t0004g0025 a0003c0003t0004g0051 a0003c0003t0004g0054 a0003c0003t0004g0062 a0003c0003t0004g0064 a0003c0003t0004g0066 a0003c0003t0004g0068 a0003c0003t0004g0072 a0003c0003t0004g0078 a0003c0003t0004g0079 a0003c0003t0004g0236 a0003c0003t0020g0070 a0003c0016t0004g0076 a0012c0019t0001g0082	29	408	0.0711	-30	c.214 others(47): Show c.2149+916_2149+945delGTCGGTGGGGGCAGGCGGTTCCCGGGGT TG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977989	TCCCCCCA others(23): Show TCCCCCCAACCCCAGGAACCGCCTCCCAACC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG00735.hp1 others(27): Show HG00323.hp1 HG00558.hp2 HG00735.hp1 HG00741.hp2 HG01109.hp1 HG01167.hp1 HG01257.hp1 HG01346.hp1 HG01517.hp2 HG01891.hp2 HG02074.hp1 HG02155.hp1 HG02809.hp2 HG03486.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18906.hp1 NA18939.hp1 NA18959.hp2 NA18965.hp2 NA19000.hp2 NA19054.hp2 NA20805.hp1 NA21309.hp2	a0003 a0012 a0003 a0012	a0003c0003 a0003c0016 a0012c0019 a0003c0003 a0003c0016 a0012c0019	a0003c0003t0004 a0003c0003t0020 a0003c0016t0004 others(1): Show a0003c0003t0004 a0003c0003t0020 a0003c0016t0004 a0012c0019t0001	a0003c0003t0004g0014 a0003c0003t0004g0015 a0003c0003t0004g0021 others(18): Show a0003c0003t0004g0014 a0003c0003t0004g0015 a0003c0003t0004g0021 a0003c0003t0004g0022 a0003c0003t0004g0023 a0003c0003t0004g0024 a0003c0003t0004g0025 a0003c0003t0004g0051 a0003c0003t0004g0054 a0003c0003t0004g0062 a0003c0003t0004g0064 a0003c0003t0004g0066 a0003c0003t0004g0068 a0003c0003t0004g0072 a0003c0003t0004g0073 a0003c0003t0004g0078 a0003c0003t0004g0079 a0003c0003t0004g0236 a0003c0003t0020g0070 a0003c0016t0004g0076 a0012c0019t0001g0082	30	408	0.0735	-30	c.214 others(47): Show c.2149+862_2149+891delGGTTGGGAGGCGGTTCCTGGGGTTGGGG GG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PET117_chr20_18132863_18148169	18139646	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	424	0.0024	-30	c.96+ others(45): Show c.96+1597_96+1626delGTGTGTGTGTGTGTGTGTGTGTGTGTGTTT	PET117	ENSG00000232838.4	transcript	ENST00000432901.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr20	TogoVar
PEX14_chr1_10469950_10635758	10577556	ATATATAT others(23): Show ATATATATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp2 HG01069.hp2 others(1): Show HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01517.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0050 a0001c0004t0001g0057 a0001c0004t0001g0080 others(1): Show a0001c0004t0001g0050 a0001c0004t0001g0057 a0001c0004t0001g0080 a0001c0004t0001g0083	4	258	0.0155	-30	c.170 others(49): Show c.170-21680_170-21651delATATATTTTTTTTTTTTTTTTTTTTT TTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar

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