Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results 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
PARP16_chr15_65253099_65291883	65273276	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG01074.hp2 others(7): Show HG00438.hp2 HG00558.hp2 HG01074.hp2 HG01123.hp2 HG01517.hp2 NA18973.hp1 NA18983.hp1 NA18989.hp2 NA18994.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0045 a0001c0002t0001g0050 others(6): Show a0001c0002t0001g0021 a0001c0002t0001g0045 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0066 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0095 a0001c0002t0001g0105	10	316	0.0317	31	c.175 others(48): Show c.175-2205_175-2204insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	1/5			chr15	TogoVar
PARP4_chr13_24415931_24517778	24510728	T T	TATGCAGA others(24): Show TATGCAGAAGATAAAATTTACCATCTTAACCA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01243.hp2 HG01884.hp2 others(19): Show HG01123.hp1 HG01243.hp2 HG01884.hp2 HG02015.hp1 HG02027.hp2 HG02129.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02523.hp2 HG02622.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03130.hp1 HG03516.hp1 HG04199.hp1 HG06807.hp2 NA18906.hp1 NA18946.hp1	a0008 a0010 a0015 others(8): Show a0008 a0010 a0015 a0020 a0040 a0041 a0042 a0043 a0044 a0045 a0046	a0008c0010 a0010c0011 a0015c0016 others(8): Show a0008c0010 a0010c0011 a0015c0016 a0020c0027 a0040c0029 a0041c0056 a0042c0058 a0043c0057 a0044c0059 a0045c0060 a0046c0061	a0008c0010t0003 a0010c0011t0001 a0015c0016t0001 others(8): Show a0008c0010t0003 a0010c0011t0001 a0015c0016t0001 a0020c0027t0001 a0040c0029t0002 a0041c0056t0001 a0042c0058t0001 a0043c0057t0001 a0044c0059t0001 a0045c0060t0001 a0046c0061t0001	a0008c0010t0003g0014 a0008c0010t0003g0015 a0008c0010t0003g0016 others(19): Show a0008c0010t0003g0014 a0008c0010t0003g0015 a0008c0010t0003g0016 a0008c0010t0003g0017 a0008c0010t0003g0018 a0008c0010t0003g0019 a0010c0011t0001g0008 a0010c0011t0001g0009 a0010c0011t0001g0010 a0010c0011t0001g0011 a0010c0011t0001g0012 a0015c0016t0001g0025 a0015c0016t0001g0026 a0015c0016t0001g0027 a0020c0027t0001g0013 a0040c0029t0002g0356 a0041c0056t0001g0022 a0042c0058t0001g0020 a0043c0057t0001g0021 a0044c0059t0001g0322 a0045c0060t0001g0023 a0046c0061t0001g0024	22	362	0.0608	31	c.-2+ others(46): Show c.-2+1977_-2+1978insTGGTTAAGATGGTAAATTTTATCTTCTGCA T	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	1/33			chr13	TogoVar
PARVB_chr22_44019302_44177939	44034253	T T	TGTCTTTA others(24): Show TGTCTTTATACATATATATGTTTGAGATGGGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02572.hp1 others(3): Show HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02895.hp2 HG03471.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0010 a0001c0002t0006 others(2): Show a0001c0001t0009 a0001c0001t0010 a0001c0002t0006 a0001c0002t0021 a0001c0002t0039	a0001c0001t0009g0091 a0001c0001t0010g0127 a0001c0001t0010g0137 others(3): Show a0001c0001t0009g0091 a0001c0001t0010g0127 a0001c0001t0010g0137 a0001c0002t0006g0101 a0001c0002t0021g0092 a0001c0002t0039g0089	6	332	0.0181	31	c.112 others(48): Show c.112+9832_112+9833insGGTCTTTATACATATATATGTTTGAGAT GGG	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44034284	T T	TGTCTTTA others(24): Show TGTCTTTATACATATATATGTTTGAGATGGGG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0185 a0001c0001t0016g0188 a0001c0001t0016g0185 a0001c0001t0016g0188	2	332	0.0060	31	c.112 others(48): Show c.112+9863_112+9864insGGTCTTTATACATATATATGTTTGAGAT GGG	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44034315	T T	TGTCTTTA others(24): Show TGTCTTTATACATATATATGTTTGAGATGGGG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	332	0.0030	31	c.112 others(48): Show c.112+9883_112+9913dupGTTTGAGATGGGGGTCTTTATACATATA TAT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44140024	G G	GCTTTCTG others(24): Show GCTTTCTGGCTGGCTCTGTCCCTCATCCTCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(260): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0004 others(29): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0001c0013 a0001c0015 a0001c0016 a0001c0019 a0001c0023 a0001c0024 a0001c0025 a0001c0027 a0001c0028 a0002c0003 a0002c0031 a0003c0006 a0003c0033 a0003c0034 a0004c0009 a0005c0014 a0005c0018 a0005c0029 a0006c0035 a0007c0021 a0008c0022 a0009c0026 a0010c0017 a0011c0010 a0012c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(122): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0033 a0001c0001t0037 a0001c0001t0038 a0001c0001t0042 a0001c0001t0043 a0001c0001t0048 a0001c0001t0050 a0001c0001t0053 a0001c0001t0057 a0001c0001t0059 a0001c0001t0061 a0001c0001t0065 a0001c0001t0068 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0080 a0001c0001t0081 a0001c0001t0087 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0025 a0001c0002t0028 a0001c0002t0039 a0001c0002t0040 a0001c0002t0047 a0001c0002t0049 a0001c0002t0055 a0001c0002t0056 a0001c0002t0060 a0001c0002t0066 a0001c0002t0084 a0001c0002t0085 a0001c0004t0001 a0001c0004t0003 a0001c0004t0008 a0001c0005t0001 a0001c0005t0003 a0001c0005t0009 a0001c0005t0010 a0001c0005t0013 a0001c0005t0067 a0001c0005t0078 a0001c0007t0013 a0001c0007t0019 a0001c0007t0069 a0001c0008t0002 a0001c0008t0086 a0001c0011t0035 a0001c0013t0005 a0001c0015t0029 a0001c0016t0030 a0001c0019t0015 a0001c0023t0052 a0001c0024t0001 a0001c0025t0015 a0001c0027t0041 a0001c0028t0015 a0002c0003t0001 a0002c0003t0003 a0002c0003t0005 a0002c0003t0006 a0002c0003t0007 a0002c0003t0012 a0002c0003t0014 a0002c0003t0017 a0002c0003t0022 a0002c0003t0028 a0002c0003t0032 a0002c0003t0045 a0002c0031t0002 a0003c0006t0006 a0003c0006t0013 a0003c0006t0054 a0003c0033t0002 a0003c0034t0036 a0004c0009t0001 a0005c0014t0083 a0005c0018t0073 a0005c0029t0003 a0006c0035t0003 a0007c0021t0011 a0008c0022t0072 a0009c0026t0001 a0010c0017t0001 a0011c0010t0031 a0012c0032t0070	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(260): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0096 a0001c0001t0001g0119 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0192 a0001c0001t0001g0220 a0001c0001t0001g0230 a0001c0001t0001g0244 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0302 a0001c0001t0001g0309 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0015 a0001c0001t0002g0042 a0001c0001t0002g0049 a0001c0001t0002g0068 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0175 a0001c0001t0002g0198 a0001c0001t0002g0206 a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0228 a0001c0001t0002g0266 a0001c0001t0002g0272 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0310 a0001c0001t0003g0043 a0001c0001t0003g0080 a0001c0001t0003g0120 a0001c0001t0003g0174 a0001c0001t0003g0247 a0001c0001t0003g0260 a0001c0001t0003g0328 a0001c0001t0004g0035 a0001c0001t0004g0064 a0001c0001t0004g0147 a0001c0001t0004g0153 a0001c0001t0004g0208 a0001c0001t0004g0217 a0001c0001t0004g0226 a0001c0001t0004g0229 a0001c0001t0004g0243 a0001c0001t0004g0252 a0001c0001t0004g0255 a0001c0001t0004g0269 a0001c0001t0004g0271 a0001c0001t0004g0293 a0001c0001t0004g0297 a0001c0001t0004g0300 a0001c0001t0005g0140 a0001c0001t0005g0204 a0001c0001t0005g0223 a0001c0001t0005g0227 a0001c0001t0005g0268 a0001c0001t0005g0276 a0001c0001t0006g0056 a0001c0001t0006g0118 a0001c0001t0006g0157 a0001c0001t0006g0187 a0001c0001t0007g0009 a0001c0001t0007g0215 a0001c0001t0007g0221 a0001c0001t0007g0238 a0001c0001t0007g0254 a0001c0001t0008g0013 a0001c0001t0008g0017 a0001c0001t0008g0045 a0001c0001t0009g0086 a0001c0001t0009g0091 a0001c0001t0009g0154 a0001c0001t0009g0155 a0001c0001t0009g0193 a0001c0001t0010g0087 a0001c0001t0010g0107 a0001c0001t0010g0127 a0001c0001t0010g0137 a0001c0001t0010g0322 a0001c0001t0011g0178 a0001c0001t0011g0288 a0001c0001t0011g0296 a0001c0001t0012g0037 a0001c0001t0012g0052 a0001c0001t0013g0124 a0001c0001t0013g0184 a0001c0001t0014g0109 a0001c0001t0014g0131 a0001c0001t0014g0151 a0001c0001t0014g0196 a0001c0001t0017g0081 a0001c0001t0018g0007 a0001c0001t0019g0317 a0001c0001t0021g0090 a0001c0001t0024g0076 a0001c0001t0026g0082 a0001c0001t0027g0319 a0001c0001t0027g0321 a0001c0001t0033g0209 a0001c0001t0037g0059 a0001c0001t0038g0292 a0001c0001t0042g0186 a0001c0001t0043g0163 a0001c0001t0048g0308 a0001c0001t0050g0218 a0001c0001t0053g0126 a0001c0001t0057g0117 a0001c0001t0059g0016 a0001c0001t0061g0033 a0001c0001t0065g0279 a0001c0001t0068g0329 a0001c0001t0074g0132 a0001c0001t0075g0095 a0001c0001t0077g0307 a0001c0001t0080g0305 a0001c0001t0081g0103 a0001c0001t0087g0330 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0039 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0071 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0224 a0001c0002t0001g0263 a0001c0002t0001g0299 a0001c0002t0002g0146 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0003g0159 a0001c0002t0003g0176 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0004g0173 a0001c0002t0005g0158 a0001c0002t0005g0194 a0001c0002t0006g0101 a0001c0002t0006g0134 a0001c0002t0006g0168 a0001c0002t0007g0002 a0001c0002t0007g0006 a0001c0002t0009g0138 a0001c0002t0010g0323 a0001c0002t0011g0067 a0001c0002t0012g0116 a0001c0002t0015g0327 a0001c0002t0016g0078 a0001c0002t0017g0278 a0001c0002t0018g0171 a0001c0002t0018g0172 a0001c0002t0019g0111 a0001c0002t0021g0074 a0001c0002t0021g0092 a0001c0002t0022g0177 a0001c0002t0023g0202 a0001c0002t0025g0100 a0001c0002t0025g0128 a0001c0002t0028g0332 a0001c0002t0039g0089 a0001c0002t0040g0189 a0001c0002t0047g0099 a0001c0002t0049g0065 a0001c0002t0055g0024 a0001c0002t0056g0019 a0001c0002t0060g0280 a0001c0002t0066g0105 a0001c0002t0084g0073 a0001c0002t0085g0135 a0001c0004t0001g0097 a0001c0004t0001g0180 a0001c0004t0001g0289 a0001c0004t0003g0287 a0001c0004t0008g0062 a0001c0005t0001g0190 a0001c0005t0003g0133 a0001c0005t0009g0075 a0001c0005t0010g0072 a0001c0005t0013g0108 a0001c0005t0067g0084 a0001c0005t0078g0093 a0001c0007t0013g0088 a0001c0007t0019g0207 a0001c0007t0069g0094 a0001c0008t0002g0032 a0001c0008t0086g0324 a0001c0011t0035g0326 a0001c0013t0005g0246 a0001c0015t0029g0139 a0001c0016t0030g0085 a0001c0019t0015g0060 a0001c0023t0052g0083 a0001c0024t0001g0030 a0001c0025t0015g0106 a0001c0027t0041g0320 a0001c0028t0015g0102 a0002c0003t0001g0047 a0002c0003t0001g0051 a0002c0003t0001g0063 a0002c0003t0001g0214 a0002c0003t0001g0240 a0002c0003t0003g0031 a0002c0003t0003g0038 a0002c0003t0005g0025 a0002c0003t0006g0112 a0002c0003t0006g0281 a0002c0003t0007g0311 a0002c0003t0012g0040 a0002c0003t0012g0041 a0002c0003t0012g0284 a0002c0003t0014g0046 a0002c0003t0017g0242 a0002c0003t0022g0026 a0002c0003t0028g0331 a0002c0003t0032g0152 a0002c0003t0045g0021 a0002c0031t0002g0036 a0003c0006t0006g0136 a0003c0006t0013g0122 a0003c0006t0054g0113 a0003c0033t0002g0195 a0003c0034t0036g0325 a0004c0009t0001g0258 a0005c0014t0083g0197 a0005c0018t0073g0110 a0005c0029t0003g0061 a0006c0035t0003g0029 a0007c0021t0011g0301 a0008c0022t0072g0130 a0009c0026t0001g0277 a0010c0017t0001g0182 a0011c0010t0031g0179 a0012c0032t0070g0162	263	332	0.7922	31	c.693 others(44): Show c.693-99_693-69dupCTTTCTGGCTGGCTCTGTCCCTCATCCTCCA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44140054	C C	CACTTTCT others(24): Show CACTTTCTGGCTGGCTCTGTCCCTCATCCTCT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG04184.hp2 HG01433.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0233 a0001c0001t0004g0241 a0001c0001t0004g0233 a0001c0001t0004g0241	2	332	0.0060	31	c.693 others(44): Show c.693-69_693-68insCTTTCTGGCTGGCTCTGTCCCTCATCCTCTA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PASD1_chrX_151558675_151681739	151562893	G G	GTGGGGGG others(24): Show GTGGGGGGCGGGGGGGTGGGGGGCGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	221	0.0045	31	c.-97 others(40): Show c.-974_-973insTGGGGGGCGGGGGGGTGGGGGGCGGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		781		chrX	TogoVar
PASK_chr2_241101099_241154472	241120492	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02135.hp1 HG02273.hp1 others(5): Show HG01081.hp1 HG02135.hp1 HG02273.hp1 NA18944.hp1 NA18964.hp2 NA18983.hp2 NA19054.hp1 NA19077.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0005c0013 a0005c0021 a0004c0004 a0005c0013 a0005c0021	a0004c0004t0001 a0005c0013t0001 a0005c0013t0002 others(1): Show a0004c0004t0001 a0005c0013t0001 a0005c0013t0002 a0005c0021t0002	a0004c0004t0001g0207 a0004c0004t0001g0210 a0004c0004t0001g0217 others(5): Show a0004c0004t0001g0207 a0004c0004t0001g0210 a0004c0004t0001g0217 a0004c0004t0001g0219 a0005c0013t0001g0232 a0005c0013t0002g0252 a0005c0013t0002g0253 a0005c0021t0002g0282	8	376	0.0213	31	c.307 others(50): Show c.3072+2239_3072+2240insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PATJ_chr1_61737480_62168915	62144771	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18983.hp2 NA19060.hp1 HG01243.hp1 NA18983.hp2 NA19060.hp1	a0005 a0019 a0021 a0005 a0019 a0021	a0005c0050 a0019c0115 a0021c0118 a0005c0050 a0019c0115 a0021c0118	a0005c0050t0026 a0019c0115t0001 a0021c0118t0003 a0005c0050t0026 a0019c0115t0001 a0021c0118t0003	a0005c0050t0026g0082 a0019c0115t0001g0007 a0021c0118t0003g0021 a0005c0050t0026g0082 a0019c0115t0001g0007 a0021c0118t0003g0021	3	158	0.0190	31	c.527 others(50): Show c.5272-3513_5272-3512insTATATATATATATATATATATATATA TATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43			chr1	TogoVar
PATJ_chr1_61737480_62168915	62144777	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0026 a0026	a0026c0134 a0026c0134	a0026c0134t0002 a0026c0134t0002	a0026c0134t0002g0105 a0026c0134t0002g0105	1	158	0.0063	31	c.527 others(50): Show c.5272-3506_5272-3505insAAAAATATATATATATATATATATAT ATATA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAWR_chr12_79579879_79695964	79639881	T T	TATTCCTA others(24): Show TATTCCTATTCCATTCCATTCCATTCCATTCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0181 a0002c0002t0001g0181	1	256	0.0039	31	c.517 others(50): Show c.517-18675_517-18674insGGAATGGAATGGAATGGAATGGAATA GGAAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAX1_chr20_21700664_21723481	21721656	A A	ATATATGT others(24): Show ATATATGTAATACATATATAACATATATGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0074 a0001c0001t0013g0074	1	400	0.0025	31	c.70 others(42): Show c.7094_*7095insTATATGTAATACATATATAACATATATGACG	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3176		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721656	A A	ATATATGT others(24): Show ATATATGTAATACATATATAACATATATTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01109.hp1 HG01243.hp1 others(59): Show HG00597.hp2 HG01109.hp1 HG01243.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp1 HG02056.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02572.hp1 HG02615.hp1 HG02698.hp2 HG02717.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp2 NA18612.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18981.hp2 NA18983.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19043.hp1 NA19058.hp2 NA19075.hp2 NA19076.hp2 NA19078.hp1 NA19082.hp2 NA19086.hp2 NA20805.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0014 a0005c0009 a0006c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0022 a0001c0001t0025 a0001c0001t0028 a0001c0001t0035 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0002t0003 a0001c0006t0003 a0001c0006t0022 a0001c0014t0048 a0005c0009t0003 a0006c0010t0030	a0001c0001t0002g0095 a0001c0001t0003g0004 a0001c0001t0003g0007 others(35): Show a0001c0001t0002g0095 a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0022 a0001c0001t0003g0025 a0001c0001t0003g0030 a0001c0001t0003g0053 a0001c0001t0003g0076 a0001c0001t0003g0080 a0001c0001t0007g0004 a0001c0001t0007g0017 a0001c0001t0007g0019 a0001c0001t0007g0049 a0001c0001t0007g0050 a0001c0001t0008g0008 a0001c0001t0012g0004 a0001c0001t0012g0018 a0001c0001t0013g0004 a0001c0001t0018g0022 a0001c0001t0022g0004 a0001c0001t0025g0048 a0001c0001t0025g0052 a0001c0001t0028g0004 a0001c0001t0035g0017 a0001c0001t0042g0014 a0001c0001t0043g0004 a0001c0001t0044g0025 a0001c0001t0047g0054 a0001c0002t0003g0082 a0001c0002t0003g0084 a0001c0006t0003g0004 a0001c0006t0022g0004 a0001c0014t0048g0062 a0005c0009t0003g0030 a0006c0010t0030g0008	62	400	0.1550	31	c.70 others(42): Show c.7094_*7095insTATATGTAATACATATATAACATATATTACG	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3176		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721656	A A	ATATATGT others(24): Show ATATATGTATTACATATATAACATGTATTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02922.hp2 HG01884.hp1 HG02257.hp1 HG02922.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0002c0015 a0003c0012 a0002c0003 a0002c0015 a0003c0012	a0002c0003t0026 a0002c0015t0026 a0003c0012t0046 a0002c0003t0026 a0002c0015t0026 a0003c0012t0046	a0002c0003t0026g0097 a0002c0015t0026g0098 a0003c0012t0046g0037 a0002c0003t0026g0097 a0002c0015t0026g0098 a0003c0012t0046g0037	3	400	0.0075	31	c.70 others(42): Show c.7094_*7095insTATATGTATTACATATATAACATGTATTACG	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3176		chr20	TogoVar
PAX9_chr14_36656860_36684362	36671478	G G	GATATTTT others(24): Show GATATTTTGCTTGTTTTGTGCAAAGCAAGTGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp1 HG02647.hp1 others(5): Show HG01109.hp2 HG02257.hp1 HG02647.hp1 HG02922.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0015 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0016 a0003c0004t0002 a0003c0004t0006	a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0015g0295 others(3): Show a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0015g0295 a0001c0001t0016g0197 a0003c0004t0002g0199 a0003c0004t0006g0027	8	446	0.0179	31	c.772 others(48): Show c.772-4720_772-4719insATATTTTGCTTGTTTTGTGCAAAGCAAG TGA	PAX9	ENSG00000198807.13	transcript	ENST00000361487.7	protein_coding	3/3			chr14	TogoVar
PBX3_chr9_125742373_125972377	125793366	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0056	1	294	0.0034	31	c.274 others(50): Show c.274+44743_274+44744insTATATATATATATATATATATATATA TATAT	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8			chr9	TogoVar
PCBP3_chr21_45638725_45947450	45892449	A A	AGTCCCGT others(24): Show AGTCCCGTCTCTGACGGGGCGTGGGGGGCGCG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG01069.hp1 others(34): Show HG00323.hp2 HG00558.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01516.hp2 HG01891.hp2 HG01975.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02523.hp2 HG02615.hp1 HG02683.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03490.hp2 HG03492.hp1 HG03942.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18959.hp1 NA18962.hp1 NA19002.hp1 NA19009.hp2 NA19065.hp2 NA19068.hp2 NA19091.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0288 a0001c0001t0002g0049 a0001c0001t0002g0050 others(34): Show a0001c0001t0001g0288 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0066 a0001c0001t0002g0218 a0001c0001t0002g0225 a0001c0001t0002g0233 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0278 a0001c0001t0002g0287 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0005g0273 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0292 a0001c0001t0007g0234 a0001c0001t0007g0238 a0001c0001t0007g0243 a0001c0001t0007g0258	37	292	0.1267	31	c.11- others(46): Show c.11-3732_11-3731insCGCGGTCCCGTCTCTGACGGGGCGTGGGGG G	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH11X_chrX_91774375_92628230	92105627	T T	TAGGAGTG others(24): Show TAGGAGTGGGGGTCGCAAGGTGCTCAGTGGGC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0065 a0001c0001t0019g0065	1	154	0.0065	31	c.303 others(52): Show c.3034-95717_3034-95687dupCAGGAGTGGGGGTCGCAAGGTGCT CAGTGGG	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11Y_chrY_4995296_5747224	5373126	C C	CCCTTCTT others(24): Show CCCTTCTTTCTTTCTTTCTTTCTTTCTTCTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	1	115	0.0087	31	c.285 others(54): Show c.2854-127930_2854-127929insCTTCTTTCTTTCTTTCTTTCTT TCTTCTTTC	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH19_chrX_100286644_100415273	100322865	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	281	0.0036	31	c.284 others(52): Show c.2848+19037_2848+19038insAAAAAAAAAAATATATATATATAT ATATATA	PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	5/5			chrX	TogoVar
PCDH19_chrX_100286644_100415273	100322865	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp2 HG01891.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0263 a0001c0001t0008g0264 a0001c0001t0008g0263 a0001c0001t0008g0264	2	281	0.0071	31	c.284 others(52): Show c.2848+19037_2848+19038insAAAAAAAAAAAAATATATATATAT ATATATA	PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	5/5			chrX	TogoVar
PCDH7_chr4_30715369_31151800	31074784	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18906.hp1 HG02886.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0047 a0001c0010t0002 a0001c0003t0047 a0001c0010t0002	a0001c0003t0047g0005 a0001c0010t0002g0106 a0001c0003t0047g0005 a0001c0010t0002g0106	2	214	0.0094	31	c.339 others(52): Show c.3392-67666_3392-67665insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	31150365	A A	ATTTTTCT others(24): Show ATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02258.hp2 others(3): Show HG01891.hp1 HG02109.hp1 HG02258.hp2 HG02486.hp2 HG02976.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0002c0007	a0001c0001t0001 a0001c0001t0042 a0001c0003t0012 others(3): Show a0001c0001t0001 a0001c0001t0042 a0001c0003t0012 a0001c0004t0001 a0001c0005t0001 a0002c0007t0001	a0001c0001t0001g0020 a0001c0001t0042g0117 a0001c0003t0012g0004 others(3): Show a0001c0001t0001g0020 a0001c0001t0042g0117 a0001c0003t0012g0004 a0001c0004t0001g0015 a0001c0005t0001g0103 a0002c0007t0001g0111	6	214	0.0280	31	c.75 others(42): Show c.7516_*7517insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding		3566		chr4	TogoVar
PCDHB12_chr5_141203719_141217571	141204212	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0006 a0002c0014t0006	a0002c0014t0006g0000 a0002c0014t0006g0000	1	432	0.0023	31	c.-46 others(42): Show c.-4696_-4695insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PCDHB12	ENSG00000120328.6	transcript	ENST00000239450.4	protein_coding		4506		chr5	TogoVar
PCED1B_chr12_47074621_47241660	47217470	G G	GAAAAAGA others(24): Show GAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01106.hp1 HG02080.hp1 others(7): Show HG01071.hp2 HG01106.hp1 HG02080.hp1 HG02083.hp1 HG02165.hp2 NA18954.hp2 NA18974.hp1 NA18979.hp1 NA18986.hp1 NA19063.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0003c0006t0001	a0001c0001t0001g0028 a0001c0001t0001g0076 a0001c0001t0001g0089 others(7): Show a0001c0001t0001g0028 a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0151 a0001c0001t0001g0309 a0001c0001t0002g0126 a0001c0001t0002g0179 a0001c0002t0002g0127 a0003c0006t0001g0092	10	322	0.0311	31	c.-58 others(46): Show c.-58+782_-58+783insAAAAGAAAGAAAGAAAAAGAAAGAAAAAGA A	PCED1B	ENSG00000179715.13	transcript	ENST00000546455.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
PCGF5_chr10_91215663_91289337	91238602	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0195 a0001c0001t0008g0195	1	318	0.0031	31	c.113 others(48): Show c.113-1880_113-1879insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	PCGF5	ENSG00000180628.15	transcript	ENST00000336126.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PCLO_chr7_82749012_83167884	82999269	C C	CATATTAA others(24): Show CATATTAAATATATATGGATATATAATATTAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02976.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0018c0034 a0001c0001 a0018c0034	a0001c0001t0005 a0018c0034t0005 a0001c0001t0005 a0018c0034t0005	a0001c0001t0005g0109 a0001c0001t0005g0125 a0018c0034t0005g0059 a0001c0001t0005g0109 a0001c0001t0005g0125 a0018c0034t0005g0059	3	188	0.0160	31	c.330 others(52): Show c.3301-32813_3301-32783dupATAATATTATATATCCATATATAT TTAATAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCMTD2_chr20_64250748_64281226	64268150	C C	CCTTTCTG others(24): Show CCTTTCTGACTTTGGTAATAAACGTTGTTTTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG00741.hp2 others(44): Show HG00280.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01928.hp1 HG01934.hp1 HG02083.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02965.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0019 a0001c0001t0022 a0001c0003t0001	a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0022 others(26): Show a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0128 a0001c0001t0006g0064 a0001c0001t0006g0127 a0001c0001t0019g0079 a0001c0001t0022g0075 a0001c0003t0001g0009 a0001c0003t0001g0022	47	332	0.1416	31	c.706 others(46): Show c.706+140_706+141insCTTTCTGACTTTGGTAATAAACGTTGTTTT A	PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5			chr20	TogoVar
PCNX1_chr14_70902459_71120382	71119428	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG03579.hp1 HG03688.hp2 others(2): Show HG01516.hp2 HG03579.hp1 HG03688.hp2 NA18969.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0006 a0001c0002t0012 a0001c0002t0021 others(1): Show a0001c0002t0006 a0001c0002t0012 a0001c0002t0021 a0001c0004t0005	a0001c0002t0006g0291 a0001c0002t0012g0299 a0001c0002t0012g0312 others(2): Show a0001c0002t0006g0291 a0001c0002t0012g0299 a0001c0002t0012g0312 a0001c0002t0021g0268 a0001c0004t0005g0082	5	352	0.0142	31	c.94 others(42): Show c.9493_*9494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding		4047		chr14	TogoVar
PCOLCE2_chr3_142812874_142894083	142893993	A A	ATTATTAT others(24): Show ATTATTATTATTATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18962.hp1 NA18980.hp2 NA18960.hp2 NA18962.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0085 a0001c0001t0004g0090 a0001c0001t0006g0089 a0001c0001t0004g0085 a0001c0001t0004g0090 a0001c0001t0006g0089	3	342	0.0088	31	c.-50 others(42): Show c.-5098_-5097insAAAAAAAAAAAAAAAAAAATAATAATAATAA	PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding		4911		chr3	TogoVar
PCOLCE2_chr3_142812874_142894083	142893993	A A	ATTATTAT others(24): Show ATTATTATTATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG04199.hp2 NA18960.hp1 others(1): Show HG00673.hp1 HG04199.hp2 NA18960.hp1 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0006 a0002c0002t0004 a0001c0001t0004 a0001c0001t0006 a0002c0002t0004	a0001c0001t0004g0065 a0001c0001t0004g0097 a0001c0001t0006g0077 others(1): Show a0001c0001t0004g0065 a0001c0001t0004g0097 a0001c0001t0006g0077 a0002c0002t0004g0098	4	342	0.0117	31	c.-50 others(42): Show c.-5098_-5097insAAAAAAAAAAAAAAAAAAAAAATAATAATAA	PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding		4911		chr3	TogoVar
PCOLCE2_chr3_142812874_142894083	142893993	A A	ATTATTAT others(24): Show ATTATTATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	342	0.0029	31	c.-50 others(42): Show c.-5098_-5097insAAAAAAAAAAAAAAAAAAAAAAAAATAATAA	PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding		4911		chr3	TogoVar
PCOLCE2_chr3_142812874_142894083	142893993	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	342	0.0029	31	c.-50 others(42): Show c.-5098_-5097insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding		4911		chr3	TogoVar
PCSK5_chr9_75885673_76367975	76273596	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0039 a0039	a0039c0064 a0039c0064	a0039c0064t0001 a0039c0064t0001	a0039c0064t0001g0061 a0039c0064t0001g0061	1	166	0.0060	31	c.314 others(52): Show c.3143-18637_3143-18636insATATATATATATATATATATATAT ATATATA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	24/37			chr9	TogoVar
PCSK5_chr9_75885673_76367975	76351447	G G	GAAAGGAA others(24): Show GAAAGGAAAGAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01256.hp2 HG01258.hp1 others(1): Show HG01109.hp1 HG01256.hp2 HG01258.hp1 NA21309.hp2	a0005 a0019 a0032 a0005 a0019 a0032	a0005c0002 a0019c0025 a0032c0088 a0005c0002 a0019c0025 a0032c0088	a0005c0002t0001 a0019c0025t0005 a0032c0088t0001 a0005c0002t0001 a0019c0025t0005 a0032c0088t0001	a0005c0002t0001g0078 a0005c0002t0001g0079 a0019c0025t0005g0032 others(1): Show a0005c0002t0001g0078 a0005c0002t0001g0079 a0019c0025t0005g0032 a0032c0088t0001g0110	4	166	0.0241	31	c.506 others(48): Show c.5067+519_5067+520insAAAGGAAAGAAGAAAGAAAGAAAGAAAG AAA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	36/37			chr9	TogoVar
PCSK5_chr9_75885673_76367975	76351447	G G	GAAAGGAA others(24): Show GAAAGGAAAGAAGAAAGAAAGAAAGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0107 a0001c0001t0008g0107	1	166	0.0060	31	c.506 others(48): Show c.5067+519_5067+520insAAAGGAAAGAAGAAAGAAAGAAAGAAGG AAA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	36/37			chr9	TogoVar
PCYOX1_chr2_70253137_70286185	70283096	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0006 a0001c0003t0006g0006	1	424	0.0024	31	c.57 others(42): Show c.5704_*5705insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PCYOX1	ENSG00000116005.12	transcript	ENST00000433351.7	protein_coding		1912		chr2	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	260	0.0039	31	c.117 others(48): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT TTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02080.hp2 NA18943.hp1 others(3): Show HG02055.hp1 HG02080.hp2 NA18943.hp1 NA18946.hp1 NA18956.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0036 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0078 a0001c0001t0001g0108 a0001c0001t0013g0253	6	260	0.0231	31	c.117 others(48): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19006.hp1 HG02572.hp1 NA19006.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0054 a0002c0004t0002 a0001c0001t0054 a0002c0004t0002	a0001c0001t0054g0020 a0002c0004t0002g0075 a0001c0001t0054g0020 a0002c0004t0002g0075	2	260	0.0077	31	c.117 others(48): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATA	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PC_chr11_66843420_66963383	66959935	A A	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	274	0.0037	31	c.-18 others(42): Show c.-1842_-1841insAAAAAAAAAAAAAAAAATATATATATATATA	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding		1553		chr11	TogoVar
PDCD1_chr2_241844884_241863894	241861756	C C	CCCAACTC others(24): Show CCCAACTCACACACAACTCCCAACATGCACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	407	0.0025	31	c.-29 others(42): Show c.-2919_-2918insCTGTGCATGTTGGGAGTTGTGTGTGAGTTGG	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		2863		chr2	TogoVar
PDE11A_chr2_177618244_178077777	177946744	C C	CTCTGCCC others(24): Show CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03486.hp1 NA19010.hp2 HG02809.hp2 HG03486.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0023 a0001c0003t0051 a0001c0001t0002 a0001c0003t0023 a0001c0003t0051	a0001c0001t0002g0079 a0001c0003t0023g0091 a0001c0003t0051g0092 a0001c0001t0002g0079 a0001c0003t0023g0091 a0001c0003t0051g0092	3	170	0.0177	31	c.107 others(52): Show c.1072-41558_1072-41557insCCTCACTTCCCAGTAGGGGCGGCC GGGCAGA	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDE5A_chr4_119489403_119633804	119632100	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	336	0.0030	31	c.-34 others(42): Show c.-3430_-3429insATATATATATATATATATATATATATATATA	PDE5A	ENSG00000138735.16	transcript	ENST00000354960.8	protein_coding		3297		chr4	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18984.hp2 NA18947.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0265 a0001c0002t0002g0308 a0001c0002t0001g0265 a0001c0002t0002g0308	2	328	0.0061	31	c.858 others(48): Show c.858+2796_858+2797insAAAAAAAAATATATATATATATATATAT ATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0264 a0001c0002t0001g0264	1	328	0.0031	31	c.858 others(48): Show c.858+2796_858+2797insAAAAAAAAAAATATATATATATATATAT ATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0243 a0001c0002t0010g0243	1	328	0.0031	31	c.858 others(48): Show c.858+2796_858+2797insAAAAAAAAAAAAATATATATATATATAT ATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0054 a0002c0015t0054	a0002c0015t0054g0223 a0002c0015t0054g0223	1	328	0.0031	31	c.858 others(48): Show c.858+2796_858+2797insAAAAAAAAAAAAAAATATATATATATAT ATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0256 a0001c0002t0006g0256	1	328	0.0031	31	c.858 others(48): Show c.858+2796_858+2797insAAAAAAAAAAAAAAAAATATATATATAT ATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar

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