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	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
PANK3_chr5_168543495_168584368	168579400	CGGGCGGG others(14): Show CGGGCGGGGCCGGCCTAGGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	416	0.0024	-21	c.-13 others(30): Show c.-138_-118delCGCCCTAGGCCGGCCCCGCCC		PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding					33		chr5	TogoVar
PANX1_chr11_94123841_94186968	94126126	GCATTTGA others(14): Show GCATTTGAGCCTAAAAAGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(261): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0006 a0007 a0008 a0009 a0011	a0001c0001 a0004c0004 a0005c0005 others(5): Show a0001c0001 a0004c0004 a0005c0005 a0006c0006 a0007c0015 a0008c0013 a0009c0011 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0004c0004t0004 a0004c0004t0010 a0004c0004t0012 a0004c0004t0013 a0004c0004t0018 a0004c0004t0024 a0005c0005t0001 a0005c0005t0003 a0006c0006t0003 a0007c0015t0002 a0008c0013t0009 a0009c0011t0005 a0011c0010t0008	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0017 others(223): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0047 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0233 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0197 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0216 a0001c0001t0002g0330 a0001c0001t0003g0013 a0001c0001t0003g0055 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0075 a0001c0001t0005g0010 a0001c0001t0005g0056 a0001c0001t0005g0058 a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0005g0063 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0070 a0001c0001t0005g0073 a0001c0001t0005g0077 a0001c0001t0006g0001 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0235 a0001c0001t0006g0236 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0242 a0001c0001t0006g0243 a0001c0001t0006g0244 a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0006g0252 a0001c0001t0006g0254 a0001c0001t0006g0256 a0001c0001t0007g0034 a0001c0001t0007g0038 a0001c0001t0007g0237 a0001c0001t0007g0246 a0001c0001t0007g0248 a0001c0001t0007g0251 a0001c0001t0007g0253 a0001c0001t0007g0255 a0001c0001t0007g0257 a0001c0001t0008g0030 a0001c0001t0008g0225 a0001c0001t0008g0226 a0001c0001t0008g0228 a0001c0001t0008g0229 a0001c0001t0008g0230 a0001c0001t0008g0231 a0001c0001t0008g0232 a0001c0001t0009g0020 a0001c0001t0009g0089 a0001c0001t0009g0122 a0001c0001t0009g0135 a0001c0001t0009g0139 a0001c0001t0009g0171 a0001c0001t0011g0061 a0001c0001t0011g0064 a0001c0001t0011g0068 a0001c0001t0014g0241 a0001c0001t0014g0247 a0001c0001t0014g0259 a0001c0001t0015g0222 a0001c0001t0015g0223 a0001c0001t0015g0224 a0001c0001t0017g0054 a0001c0001t0017g0260 a0001c0001t0025g0175 a0001c0001t0026g0116 a0001c0001t0027g0154 a0004c0004t0004g0059 a0004c0004t0004g0067 a0004c0004t0004g0072 a0004c0004t0010g0008 a0004c0004t0010g0053 a0004c0004t0010g0057 a0004c0004t0010g0074 a0004c0004t0012g0106 a0004c0004t0012g0129 a0004c0004t0012g0136 a0004c0004t0012g0167 a0004c0004t0012g0215 a0004c0004t0013g0033 a0004c0004t0013g0245 a0004c0004t0013g0258 a0004c0004t0018g0195 a0004c0004t0024g0081 a0005c0005t0001g0085 a0005c0005t0001g0088 a0005c0005t0001g0326 a0005c0005t0001g0327 a0005c0005t0003g0046 a0006c0006t0003g0076 a0007c0015t0002g0177 a0008c0013t0009g0141 a0009c0011t0005g0078 a0011c0010t0008g0227	264	408	0.6471	-21	c.-31 others(32): Show c.-3186_-3166delCATTTGAGCCTAAAAAGGGGC		PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding					2714		chr11	TogoVar
PANX3_chr11_124606428_124625356	124616980	TTCTCTCT others(14): Show TTCTCTCTCTCTCTCCTTATTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00609.hp1 others(96): Show HG00408.hp1 HG00438.hp1 HG00609.hp1 HG00642.hp2 HG01099.hp1 HG01123.hp2 HG01243.hp1 HG01891.hp2 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG06807.hp2 NA18906.hp2 NA18943.hp1 NA18949.hp1 NA18951.hp2 NA18954.hp2 NA18957.hp1 NA18963.hp1 NA18965.hp1 NA18975.hp1 NA18985.hp1 NA18988.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA19001.hp2 NA19003.hp1 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19067.hp2 NA19070.hp2 NA19075.hp1 NA19077.hp2 NA19078.hp1 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0010	a0001c0001 a0002c0003 a0004c0005 others(2): Show a0001c0001 a0002c0003 a0004c0005 a0007c0010 a0010c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0003t0001 a0004c0005t0001 a0007c0010t0001 a0010c0014t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 others(34): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0002g0006 a0001c0001t0002g0015 a0001c0001t0002g0087 a0001c0001t0003g0073 a0001c0001t0003g0084 a0001c0001t0004g0039 a0002c0003t0001g0017 a0004c0005t0001g0038 a0007c0010t0001g0090 a0010c0014t0001g0088	99	420	0.2357	-21	c.325 others(36): Show c.325-282_325-262delCTCCTTATTCTCTCTCTCTCT		PANX3	ENSG00000154143.3	transcript	ENST00000284288.3	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr11	TogoVar
PAPPA2_chr1_176458175_176850601	176576103	GTGAAATT others(14): Show GTGAAATTACAGGGCTGGAGCA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03579.hp2 NA19240.hp1 HG02257.hp1 HG03579.hp2 NA19240.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0014 a0002c0004t0005 a0002c0004t0014	a0002c0004t0005g0014 a0002c0004t0014g0031 a0002c0004t0014g0042 a0002c0004t0005g0014 a0002c0004t0014g0031 a0002c0004t0014g0042	3	118	0.0254	-21	c.920 others(40): Show c.920-18417_920-18397delAATTACAGGGCTGGAGCATGA		PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
PAQR5_chr15_69293912_69412780	69300646	TTTCTTTT others(14): Show TTTCTTTTCTTTCTTTCTTTCA	T T	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	284	0.0035	-21	c.-27 others(40): Show c.-277+1597_-277+1617delTCTTTCTTTCTTTCATTCTTT		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322691	GGAAGAAG others(14): Show GGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG03139.hp1 others(3): Show HG02615.hp2 HG02809.hp1 HG03139.hp1 HG03225.hp1 HG03516.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0002c0002t0009	a0001c0001t0002g0122 a0001c0001t0005g0045 a0001c0001t0005g0047 others(3): Show a0001c0001t0002g0122 a0001c0001t0005g0045 a0001c0001t0005g0047 a0001c0001t0006g0245 a0001c0001t0015g0225 a0002c0002t0009g0050	6	284	0.0211	-21	c.-27 others(42): Show c.-276-14590_-276-14570delAGAAGAAGAAGAAGAAGAAGA		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322766	AGAAGAGG others(14): Show AGAAGAGGGAGAAGAAGAAGAC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18971.hp2 NA18991.hp1 HG00558.hp2 NA18971.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0096 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0096	3	284	0.0106	-21	c.-27 others(42): Show c.-276-14572_-276-14552delAGAGGGAGAAGAAGAAGACGA		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322772	GGGAGAAG others(14): Show GGGAGAAGAAGAAGACGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02895.hp2 HG03195.hp1 others(2): Show HG02132.hp1 HG02895.hp2 HG03195.hp1 NA18948.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0192 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0192 a0001c0001t0001g0216 a0001c0001t0001g0261	5	284	0.0176	-21	c.-27 others(42): Show c.-276-14567_-276-14547delGAGAAGAAGAAGACGAGGAAG		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69342267	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(152): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0003t0003 a0001c0004t0001 a0002c0002t0002	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(152): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0002g0067 a0001c0001t0002g0078 a0001c0001t0002g0094 a0001c0001t0002g0144 a0001c0001t0002g0181 a0001c0001t0002g0236 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0137 a0001c0001t0004g0139 a0001c0001t0004g0141 a0001c0001t0004g0158 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0197 a0001c0001t0004g0218 a0001c0001t0004g0231 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0189 a0001c0001t0005g0226 a0001c0001t0008g0092 a0001c0001t0008g0095 a0001c0001t0012g0156 a0001c0001t0013g0113 a0001c0001t0014g0006 a0001c0001t0015g0225 a0001c0001t0016g0109 a0001c0001t0017g0053 a0001c0001t0021g0246 a0001c0003t0003g0118 a0001c0003t0003g0182 a0001c0004t0001g0029 a0001c0004t0001g0254 a0002c0002t0002g0194	155	284	0.5458	-21	c.-11 others(40): Show c.-116+4790_-116+4810delATTATTATTATTATTATTATT		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3_chr10_34104561_34820296	34371512	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp2 HG02145.hp2 others(6): Show HG00735.hp2 HG01243.hp2 HG02145.hp2 HG02809.hp1 HG02809.hp2 HG02970.hp2 HG03098.hp2 HG03516.hp1 HG03579.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0019 others(4): Show a0001c0001 a0001c0002 a0001c0019 a0001c0020 a0004c0016 a0004c0017 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0007 a0001c0019t0002 a0001c0020t0002 a0004c0016t0001 a0004c0017t0001 a0006c0009t0011	a0001c0001t0001g0073 a0001c0001t0003g0055 a0001c0001t0004g0019 others(6): Show a0001c0001t0001g0073 a0001c0001t0003g0055 a0001c0001t0004g0019 a0001c0002t0007g0017 a0001c0019t0002g0014 a0001c0020t0002g0001 a0004c0016t0001g0052 a0004c0017t0001g0053 a0006c0009t0011g0047	9	100	0.0900	-21	c.170 others(38): Show c.1707+965_1707+985delGTTTTTTTTTTTTTTTTTTTT		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	12/24						chr10	TogoVar
PARD3_chr10_34104561_34820296	34572495	CCAGGTGT others(14): Show CCAGGTGTGGTGGGTGCGCCTG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp2 HG02970.hp1 others(1): Show HG02145.hp1 HG02622.hp2 HG02970.hp1 HG03130.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0008 a0001c0002 a0003c0008	a0001c0002t0009 a0003c0008t0013 a0001c0002t0009 a0003c0008t0013	a0001c0002t0009g0091 a0001c0002t0009g0092 a0001c0002t0009g0096 others(1): Show a0001c0002t0009g0091 a0001c0002t0009g0092 a0001c0002t0009g0096 a0003c0008t0013g0095	4	100	0.0400	-21	c.223 others(40): Show c.223-55357_223-55337delCAGGCGCACCCACCACACCTG		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24						chr10	TogoVar
PARD3_chr10_34104561_34820296	34681752	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp2 HG02622.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0092 a0001c0002t0009g0096 a0001c0002t0009g0092 a0001c0002t0009g0096	2	100	0.0200	-21	c.222 others(40): Show c.222+14545_222+14565delAAAAATATATATATATATATA		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24						chr10	TogoVar
PARD3_chr10_34104561_34820296	34681762	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0053 a0004c0017t0001g0053	1	100	0.0100	-21	c.222 others(40): Show c.222+14535_222+14555delAAAAAAAAAAAAAAATATATA		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24						chr10	TogoVar
PARD3_chr10_34104561_34820296	34768354	TAACTCGA others(14): Show TAACTCGAAGCAAAGGCGGGAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp2 HG02451.hp2 others(10): Show HG00741.hp2 HG01071.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02723.hp2 HG02922.hp2 HG03098.hp1 HG03139.hp2 HG03453.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0006 a0001c0002t0002 a0001c0002t0004 others(5): Show a0001c0001t0006 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0003t0002 a0001c0003t0004 a0001c0004t0002 a0001c0004t0007	a0001c0001t0006g0030 a0001c0002t0002g0039 a0001c0002t0004g0029 others(10): Show a0001c0001t0006g0030 a0001c0002t0002g0039 a0001c0002t0004g0029 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0007g0031 a0001c0003t0002g0036 a0001c0003t0004g0034 a0001c0003t0004g0035 a0001c0003t0004g0038 a0001c0004t0002g0006 a0001c0004t0002g0028 a0001c0004t0007g0037	13	100	0.1300	-21	c.120 others(40): Show c.120+46501_120+46521delGTCCCGCCTTTGCTTCGAGTT		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	1/24						chr10	TogoVar
PARD6A_chr16_67655960_67667774	67663577	AGTTGATG others(14): Show AGTTGATGACCCGAGGGCAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	266	0.0038	-21	c.93 others(30): Show c.931_*951delGTTGATGACCCGAGGGCAGAG		PARD6A	ENSG00000102981.10	transcript	ENST00000458121.7	protein_coding					804		chr16	TogoVar
PARD6G_chr18_80152232_80252514	80232641	AACACGTG others(14): Show AACACGTGGGAGTTATGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(109): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02698.hp1 HG02723.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18952.hp2 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18994.hp2 NA18999.hp1 NA19002.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19067.hp1 NA19070.hp1 NA19076.hp1 NA19082.hp1 NA19083.hp2 NA19086.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0030 a0001c0002t0001 a0001c0002t0006 a0001c0002t0009 a0001c0002t0011 a0001c0002t0013 a0001c0002t0015 a0001c0002t0029 a0001c0005t0001 a0001c0008t0006	a0001c0001t0001g0007 a0001c0001t0001g0183 a0001c0001t0001g0287 others(104): Show a0001c0001t0001g0007 a0001c0001t0001g0183 a0001c0001t0001g0287 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0329 a0001c0001t0002g0327 a0001c0001t0004g0259 a0001c0001t0004g0286 a0001c0001t0006g0258 a0001c0001t0030g0266 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0257 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0294 a0001c0002t0001g0296 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0318 a0001c0002t0001g0320 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0328 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0346 a0001c0002t0001g0347 a0001c0002t0001g0348 a0001c0002t0001g0349 a0001c0002t0001g0352 a0001c0002t0001g0353 a0001c0002t0001g0354 a0001c0002t0001g0355 a0001c0002t0001g0356 a0001c0002t0001g0357 a0001c0002t0001g0358 a0001c0002t0001g0359 a0001c0002t0001g0360 a0001c0002t0001g0361 a0001c0002t0001g0362 a0001c0002t0001g0364 a0001c0002t0006g0078 a0001c0002t0006g0269 a0001c0002t0006g0270 a0001c0002t0006g0271 a0001c0002t0006g0272 a0001c0002t0006g0273 a0001c0002t0006g0274 a0001c0002t0006g0278 a0001c0002t0006g0279 a0001c0002t0006g0313 a0001c0002t0006g0314 a0001c0002t0006g0315 a0001c0002t0006g0316 a0001c0002t0006g0350 a0001c0002t0006g0351 a0001c0002t0009g0312 a0001c0002t0009g0317 a0001c0002t0009g0319 a0001c0002t0009g0321 a0001c0002t0009g0322 a0001c0002t0011g0010 a0001c0002t0011g0370 a0001c0002t0011g0371 a0001c0002t0013g0011 a0001c0002t0013g0012 a0001c0002t0015g0185 a0001c0002t0015g0186 a0001c0002t0029g0255 a0001c0005t0001g0309 a0001c0008t0006g0260	112	382	0.2932	-21	c.72+ others(38): Show c.72+14615_72+14635delACTCTCATAACTCCCACGTGT		PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	1/2						chr18	TogoVar
PARD6G_chr18_80152232_80252514	80251132	TTCTTTTA others(14): Show TTCTTTTATGATGAGAGCAGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0091 a0001c0001t0022g0091	1	382	0.0026	-21	c.-38 others(32): Show c.-3805_-3785delGCCTGCTCTCATCATAAAAGA		PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding					3619		chr18	TogoVar
PARG_chr10_49813279_49947027	49909823	TAGGGAAA others(14): Show TAGGGAAAGGTAACTTGGTCCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19240.hp1 HG02258.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0191 a0001c0001t0002g0192	2	292	0.0069	-21	c.173 others(40): Show c.1737+6073_1737+6093delGGGACCAAGTTACCTTTCCCT		PARG	ENSG00000227345.9	transcript	ENST00000616448.2	protein_coding	7/17						chr10	TogoVar
PARK7_chr1_7956711_7990505	7990227	ATCACCAT others(14): Show ATCACCATCACCCTCACCACCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	370	0.0027	-21	c.51 others(32): Show c.5174_*5194delTCACCATCACCCTCACCACCC		PARK7	ENSG00000116288.13	transcript	ENST00000338639.10	protein_coding					4723		chr1	TogoVar
PARL_chr3_183824271_183889880	183882221	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	358	0.0028	-21	c.125 others(38): Show c.125+2480_125+2500delATATATATATATATATATATT		PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9						chr3	TogoVar
PARL_chr3_183824271_183889880	183882223	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02451.hp2 HG02015.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0216 a0001c0001t0001g0195 a0001c0001t0001g0216	2	358	0.0056	-21	c.125 others(38): Show c.125+2478_125+2498delATATATATATATATATATATA		PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9						chr3	TogoVar
PARP12_chr7_140018749_140067951	140035990	GAGGAGGA others(14): Show GAGGAGGAGGAGAAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0124 a0004c0010t0002g0124	1	360	0.0028	-21	c.132 others(40): Show c.1325-1680_1325-1660delTCTCCTCCTTCTCCTCCTCCT		PARP12	ENSG00000059378.13	transcript	ENST00000263549.8	protein_coding	7/11						chr7	TogoVar
PARP2_chr14_20338635_20362904	20347396	ATATTTTT others(14): Show ATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	420	0.0024	-21	c.324 others(36): Show c.324+485_324+505delATTTTTTTTTTTTTTTTTTTT		PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
PARP4_chr13_24415931_24517778	24474170	CTGGGCCG others(14): Show CTGGGCCGCTGTCTTTCTCTTG	C C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	362	0.0028	-21	c.191 others(40): Show c.1914+1281_1914+1301delCAAGAGAAAGACAGCGGCCCA		PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	15/33						chr13	TogoVar
PARP8_chr5_50661637_50851519	50719330	ATATAATC others(14): Show ATATAATCCCATTTATTCACTT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0110 a0001c0002t0003g0110	1	328	0.0031	-21	c.147 others(40): Show c.147-30819_147-30799delATAATCCCATTTATTCACTTT		PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
PASD1_chrX_151558675_151681739	151672214	AGGAGCAG others(14): Show AGGAGCAGCAGCGGCAGCTGCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp1 HG01069.hp1 HG01071.hp1 others(1): Show HG00738.hp1 HG01069.hp1 HG01071.hp1 HG02602.hp1	a0003 a0003	a0003c0012 a0003c0019 a0003c0021 a0003c0012 a0003c0019 a0003c0021	a0003c0012t0002 a0003c0019t0001 a0003c0021t0003 a0003c0012t0002 a0003c0019t0001 a0003c0021t0003	a0003c0012t0002g0008 a0003c0012t0002g0027 a0003c0019t0001g0218 others(1): Show a0003c0012t0002g0008 a0003c0012t0002g0027 a0003c0019t0001g0218 a0003c0021t0003g0009	4	221	0.0181	-21	c.147 others(30): Show c.1478_1498delAGCGGCAGCTGCGGGAGCAGC	p.Gln others(13): Show p.Gln493_Gln499del	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	14/16	1670/3110	1478/2322	493/773		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASK_chr2_241101099_241154472	241148962	GGCGGCGC others(14): Show GGCGGCGCGCGCCCCCGACCCC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00597.hp2 others(77): Show HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01109.hp1 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02572.hp2 HG02809.hp2 HG03017.hp2 HG03130.hp2 HG03654.hp2 NA18612.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0023 a0029 a0030	a0001c0002 a0001c0015 a0001c0023 others(7): Show a0001c0002 a0001c0015 a0001c0023 a0003c0003 a0003c0008 a0004c0004 a0004c0030 a0023c0054 a0029c0070 a0030c0044	a0001c0002t0001 a0001c0015t0002 a0001c0023t0001 others(7): Show a0001c0002t0001 a0001c0015t0002 a0001c0023t0001 a0003c0003t0002 a0003c0008t0001 a0004c0004t0001 a0004c0030t0010 a0023c0054t0001 a0029c0070t0001 a0030c0044t0001	a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0016 others(64): Show a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0202 a0001c0002t0001g0204 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0213 a0001c0002t0001g0216 a0001c0015t0002g0166 a0001c0023t0001g0184 a0001c0023t0001g0185 a0001c0023t0001g0192 a0003c0003t0002g0167 a0003c0008t0001g0017 a0003c0008t0001g0172 a0003c0008t0001g0173 a0003c0008t0001g0176 a0003c0008t0001g0177 a0003c0008t0001g0182 a0003c0008t0001g0190 a0003c0008t0001g0194 a0003c0008t0001g0220 a0004c0004t0001g0008 a0004c0004t0001g0020 a0004c0004t0001g0180 a0004c0004t0001g0187 a0004c0004t0001g0201 a0004c0004t0001g0203 a0004c0004t0001g0205 a0004c0004t0001g0206 a0004c0004t0001g0207 a0004c0004t0001g0210 a0004c0004t0001g0211 a0004c0004t0001g0212 a0004c0004t0001g0214 a0004c0004t0001g0215 a0004c0004t0001g0217 a0004c0004t0001g0218 a0004c0004t0001g0219 a0004c0004t0001g0221 a0004c0030t0010g0168 a0004c0030t0010g0171 a0023c0054t0001g0169 a0029c0070t0001g0200 a0030c0044t0001g0170	80	376	0.2128	-21	c.-43 others(36): Show c.-43+431_-43+451delGGGGTCGGGGGCGCGCGCCGC		PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	1/17						chr2	TogoVar
PATJ_chr1_61737480_62168915	61997804	TGTTTTGT others(14): Show TGTTTTGTTTTGTTTTGTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp1 HG01192.hp1 others(17): Show HG00735.hp2 HG01070.hp1 HG01192.hp1 HG01496.hp1 HG01891.hp1 HG01975.hp2 HG02559.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG03486.hp1 HG03486.hp2 HG06807.hp1 NA18906.hp1 NA19030.hp2	a0001 a0006 a0009 others(10): Show a0001 a0006 a0009 a0010 a0017 a0020 a0039 a0040 a0041 a0042 a0045 a0047 a0057	a0001c0001 a0001c0008 a0001c0022 others(16): Show a0001c0001 a0001c0008 a0001c0022 a0001c0046 a0006c0040 a0006c0113 a0009c0054 a0010c0005 a0010c0023 a0010c0025 a0017c0033 a0020c0128 a0039c0109 a0040c0035 a0041c0103 a0042c0027 a0045c0065 a0047c0108 a0057c0085	a0001c0001t0002 a0001c0008t0016 a0001c0022t0029 others(17): Show a0001c0001t0002 a0001c0008t0016 a0001c0022t0029 a0001c0046t0016 a0006c0040t0023 a0006c0113t0003 a0009c0054t0004 a0010c0005t0001 a0010c0005t0018 a0010c0023t0007 a0010c0025t0001 a0017c0033t0006 a0020c0128t0001 a0039c0109t0001 a0040c0035t0022 a0041c0103t0020 a0042c0027t0018 a0045c0065t0033 a0047c0108t0001 a0057c0085t0007	a0001c0001t0002g0151 a0001c0008t0016g0047 a0001c0022t0029g0111 others(17): Show a0001c0001t0002g0151 a0001c0008t0016g0047 a0001c0022t0029g0111 a0001c0046t0016g0106 a0006c0040t0023g0123 a0006c0113t0003g0055 a0009c0054t0004g0127 a0010c0005t0001g0129 a0010c0005t0018g0107 a0010c0023t0007g0072 a0010c0025t0001g0140 a0017c0033t0006g0120 a0020c0128t0001g0020 a0039c0109t0001g0133 a0040c0035t0022g0117 a0041c0103t0020g0074 a0042c0027t0018g0144 a0045c0065t0033g0043 a0047c0108t0001g0132 a0057c0085t0007g0085	20	158	0.1266	-21	c.386 others(40): Show c.3867+7441_3867+7461delGTTTTGTTTTGTTTTGTTTTA		PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	28/43						chr1	TogoVar
PAWR_chr12_79579879_79695964	79613967	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	256	0.0039	-21	c.649 others(36): Show c.649-379_649-359delAAAAAAAAATATATATATATA		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6						chr12	TogoVar
PAX3_chr2_222194887_222303998	222260570	TTTTTTTT others(14): Show TTTTTTTTGTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	328	0.0031	-21	c.587 others(40): Show c.587-28308_587-28288delCAAAAAAAAAAAACAAAAAAA		PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8						chr2	TogoVar
PAX6_chr11_31784026_31816322	31794404	AACACACA others(14): Show AACACACACACACACACCACAC	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18987.hp1 HG03831.hp2 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0193 a0001c0001t0002g0129 a0001c0001t0002g0193	2	376	0.0053	-21	c.724 others(36): Show c.724+205_724+225delGTGTGGTGTGTGTGTGTGTGT		PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding	9/13						chr11	TogoVar
PBRM1_chr3_52540367_52690913	52596436	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00544.hp1 others(88): Show HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01169.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02683.hp1 HG02818.hp1 HG03130.hp1 HG03209.hp2 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03834.hp2 NA18747.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp2 NA18957.hp2 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18999.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA20752.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0010 a0001c0001 a0001c0002 a0004c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0018 a0004c0010t0001	a0001c0001t0001g0129 a0001c0002t0001g0148 a0001c0002t0001g0152 others(88): Show a0001c0001t0001g0129 a0001c0002t0001g0148 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0249 a0001c0002t0001g0288 a0001c0002t0001g0298 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0003g0170 a0001c0002t0003g0196 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0202 a0001c0002t0009g0299 a0001c0002t0018g0247 a0004c0010t0001g0160	91	300	0.3033	-21	c.282 others(40): Show c.2824+7064_2824+7084delTTTTTTTTTTTTTTTTTTTTT		PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	19/31						chr3	TogoVar
PBX3_chr9_125742373_125972377	125835015	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	294	0.0034	-21	c.275 others(40): Show c.275-80655_275-80635delAAAAAAAAAAAAAAAAAAAAA		PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX3_chr9_125742373_125972377	125943352	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02897.hp1 HG03209.hp1 others(2): Show HG02647.hp1 HG02897.hp1 HG03209.hp1 NA19001.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0174 others(2): Show a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0174 a0001c0001t0001g0236 a0001c0001t0001g0277	5	294	0.0170	-21	c.843 others(38): Show c.843+7772_843+7792delAAAAAAAAAAAAAAAAAAAAA		PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX4_chr19_19556713_19623687	19556747	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	376	0.0027	-21	c.52 others(32): Show c.5257_*5277delTTTTTTTTTTTTTTTTTTTTT		PBX4	ENSG00000105717.14	transcript	ENST00000251203.14	protein_coding					4965		chr19	TogoVar
PCBP3_chr21_45638725_45947450	45815333	AGTGAGTG others(14): Show AGTGAGTGGTGAGTGATGAGTG	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0015 a0001c0002t0004g0015	1	292	0.0034	-21	c.-12 others(42): Show c.-125-34606_-125-34586delGTGAGTGGTGAGTGATGAGTG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45822679	GGGGACAG others(14): Show GGGGACAGGGTTAGGAGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0266 a0001c0001t0018g0266	1	292	0.0034	-21	c.-12 others(42): Show c.-125-27267_-125-27247delAGAGTGAGGGACAGGGTTAGG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCCA_chr13_100084093_100535435	100422062	CTCTTTTC others(14): Show CTCTTTTCTTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	174	0.0058	-21	c.174 others(40): Show c.1747-3569_1747-3549delCTTTTCTTTTCTTTCTTTCTT		PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100440189	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	174	0.0058	-21	c.184 others(40): Show c.1846-9061_1846-9041delTATATATATATATATATATAA		PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	20/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100488623	TTTTTGTT others(14): Show TTTTTGTTTTGTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01884.hp2 HG02055.hp1 others(21): Show HG00621.hp1 HG01884.hp2 HG02055.hp1 HG02145.hp2 HG02486.hp2 HG02572.hp2 HG02735.hp2 HG02818.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03540.hp1 HG03654.hp2 HG03942.hp2 HG04199.hp2 HG04228.hp2 NA18999.hp2 NA20905.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0006c0006 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0002c0003t0001 a0006c0006t0001 a0007c0007t0001	a0001c0001t0001g0006 a0001c0001t0001g0035 a0001c0001t0001g0036 others(21): Show a0001c0001t0001g0006 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0058 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0096 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0002g0004 a0001c0001t0003g0062 a0001c0002t0001g0082 a0002c0003t0001g0118 a0006c0006t0001g0166 a0007c0007t0001g0167	24	174	0.1379	-21	c.190 others(42): Show c.1900-26799_1900-26779delGTTTTGTTTTTTTTTTGTTTT		PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
PCDH11X_chrX_91774375_92628230	91985150	GTTTTCTG others(14): Show GTTTTCTGGTTATTTTTCCATA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0143 a0001c0003t0002g0143	1	154	0.0065	-21	c.303 others(44): Show c.3033+105880_3033+105900delTTCTGGTTATTTTTCCATATT		PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92072340	ACTGCTTT others(14): Show ACTGCTTTTCTCAAGCAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0090 a0001c0001t0004g0090	1	154	0.0065	-21	c.303 others(44): Show c.3034-129034_3034-129014delCTGCTTTTCTCAAGCAGAAGG		PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10						chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92499636	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0050	1	154	0.0065	-21	c.336 others(42): Show c.3367+31339_3367+31359delAAAAAAAAAAAAAAAAAAAAA		PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	10/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11Y_chrY_4995296_5747224	5393657	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02056.hp1 HG02071.hp1 others(8): Show HG00609.hp1 HG02056.hp1 HG02071.hp1 HG02129.hp1 HG02135.hp1 NA18945.hp1 NA18959.hp1 NA18982.hp1 NA18984.hp1 NA19085.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0033 others(8): Show a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0062	11	115	0.0957	-21	c.285 others(44): Show c.2854-107372_2854-107352delAAAAAAAAAAAAAAAAAAAAA		PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5					INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH15_chr10_53797771_54806231	53888681	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0012 a0010c0009t0012	a0010c0009t0012g0042 a0010c0009t0012g0042	1	102	0.0098	-21	c.350 others(42): Show c.3501+14541_3501+14561delATATATATATATATATATATA		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	26/37						chr10	TogoVar
PCDH15_chr10_53797771_54806231	54345801	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03579.hp1 HG02615.hp2 HG03579.hp1	a0001 a0018 a0001 a0018	a0001c0001 a0018c0037 a0001c0001 a0018c0037	a0001c0001t0008 a0018c0037t0013 a0001c0001t0008 a0018c0037t0013	a0001c0001t0008g0003 a0018c0037t0013g0062 a0001c0001t0008g0003 a0018c0037t0013g0062	2	102	0.0196	-21	c.594 others(36): Show c.594+543_594+563delTTTTTTTTTTTTTTTTTTTTT		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37						chr10	TogoVar
PCDH15_chr10_53797771_54806231	54774007	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01167.hp1 others(18): Show HG00738.hp2 HG00741.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG02109.hp2 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG03139.hp1 HG03225.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA20129.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0020 a0021 a0026 a0031 a0033	a0001c0001 a0002c0002 a0002c0021 others(10): Show a0001c0001 a0002c0002 a0002c0021 a0003c0003 a0004c0004 a0005c0005 a0008c0032 a0010c0009 a0020c0027 a0021c0026 a0026c0033 a0031c0020 a0033c0023	a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 others(16): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0024 a0002c0002t0027 a0002c0021t0021 a0003c0003t0001 a0004c0004t0005 a0005c0005t0005 a0008c0032t0001 a0010c0009t0011 a0020c0027t0001 a0021c0026t0008 a0026c0033t0017 a0031c0020t0007 a0033c0023t0026	a0001c0001t0001g0022 a0002c0002t0002g0037 a0002c0002t0004g0041 others(18): Show a0001c0001t0001g0022 a0002c0002t0002g0037 a0002c0002t0004g0041 a0002c0002t0004g0077 a0002c0002t0005g0016 a0002c0002t0007g0038 a0002c0002t0008g0019 a0002c0002t0024g0069 a0002c0002t0027g0064 a0002c0021t0021g0047 a0003c0003t0001g0017 a0004c0004t0005g0024 a0004c0004t0005g0025 a0005c0005t0005g0036 a0008c0032t0001g0021 a0010c0009t0011g0078 a0020c0027t0001g0080 a0021c0026t0008g0081 a0026c0033t0017g0023 a0031c0020t0007g0083 a0033c0023t0026g0082	21	102	0.2059	-21	c.-29 others(40): Show c.-29+26897_-29+26917delAAAAAAAAAAAAAAAAAAAAA		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37						chr10	TogoVar
PCDH15_chr10_53816099_54806231	53888681	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0027 a0027	a0027c0027 a0027c0027	a0027c0027t0008 a0027c0027t0008	a0027c0027t0008g0039 a0027c0027t0008g0039	1	94	0.0106	-21	c.350 others(42): Show c.3501+14541_3501+14561delATATATATATATATATATATA		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	26/32						chr10	TogoVar
PCDH15_chr10_53816099_54806231	54345801	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03579.hp1 HG02615.hp2 HG03579.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0043 a0001c0001 a0016c0043	a0001c0001t0001 a0016c0043t0004 a0001c0001t0001 a0016c0043t0004	a0001c0001t0001g0003 a0016c0043t0004g0058 a0001c0001t0001g0003 a0016c0043t0004g0058	2	94	0.0213	-21	c.594 others(36): Show c.594+543_594+563delTTTTTTTTTTTTTTTTTTTTT		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32						chr10	TogoVar
PCDH15_chr10_53816099_54806231	54774007	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01175.hp1 others(13): Show HG00738.hp1 HG00741.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02965.hp1 HG03139.hp1 HG03225.hp2 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA20129.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0017 a0029 a0030	a0001c0001 a0002c0002 a0002c0006 others(7): Show a0001c0001 a0002c0002 a0002c0006 a0003c0003 a0003c0005 a0004c0004 a0005c0009 a0017c0033 a0029c0030 a0030c0028	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(10): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0006t0001 a0002c0006t0005 a0003c0003t0001 a0003c0005t0001 a0004c0004t0001 a0005c0009t0001 a0017c0033t0001 a0029c0030t0001 a0030c0028t0001	a0001c0001t0001g0021 a0002c0002t0001g0034 a0002c0002t0001g0063 others(13): Show a0001c0001t0001g0021 a0002c0002t0001g0034 a0002c0002t0001g0063 a0002c0002t0002g0019 a0002c0002t0002g0038 a0002c0002t0002g0071 a0002c0002t0010g0060 a0002c0006t0001g0016 a0002c0006t0005g0074 a0003c0003t0001g0017 a0003c0005t0001g0075 a0004c0004t0001g0022 a0005c0009t0001g0033 a0017c0033t0001g0073 a0029c0030t0001g0035 a0030c0028t0001g0044	16	94	0.1702	-21	c.-29 others(40): Show c.-29+26897_-29+26917delAAAAAAAAAAAAAAAAAAAAA		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	1/32						chr10	TogoVar

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