Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	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
PGBD5_chr1_230309490_230431332	230396225	TTTTTACC others(14): Show TTTTTACCCCCACACTCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG02004.hp2 others(17): Show HG00423.hp1 HG00597.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02080.hp1 HG02155.hp1 HG02155.hp2 HG03491.hp2 HG03492.hp1 HG03834.hp2 NA18612.hp1 NA18940.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18964.hp1 NA18972.hp1 NA18975.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0025 others(11): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0025 a0001c0001t0051 a0001c0001t0058 a0001c0001t0078 a0001c0001t0111 a0001c0001t0128 a0001c0002t0001 a0001c0002t0003 a0001c0002t0015 a0001c0002t0023 a0001c0002t0027 a0001c0002t0124	a0001c0001t0002g0111 a0001c0001t0002g0225 a0001c0001t0002g0226 others(17): Show a0001c0001t0002g0111 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0005g0123 a0001c0001t0025g0257 a0001c0001t0051g0089 a0001c0001t0058g0199 a0001c0001t0078g0182 a0001c0001t0111g0062 a0001c0001t0128g0270 a0001c0002t0001g0079 a0001c0002t0001g0126 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0003g0283 a0001c0002t0015g0080 a0001c0002t0023g0065 a0001c0002t0027g0266 a0001c0002t0027g0274 a0001c0002t0124g0242	20	288	0.0694	-21	c.331 others(40): Show c.331+29352_331+29372delGGGAGGAGTGTGGGGGTAAAA		PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6						chr1	TogoVar
PGBD5_chr1_230309490_230431332	230396246	CTTTTACC others(14): Show CTTTTACCCCCACACTCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp1 NA20905.hp1 HG02559.hp1 HG02886.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0055 a0001c0002t0034 a0001c0001t0010 a0001c0001t0055 a0001c0002t0034	a0001c0001t0010g0019 a0001c0001t0055g0143 a0001c0002t0034g0178 a0001c0001t0010g0019 a0001c0001t0055g0143 a0001c0002t0034g0178	3	288	0.0104	-21	c.331 others(40): Show c.331+29331_331+29351delAGGAGGAGTGTGGGGGTAAAA		PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6						chr1	TogoVar
PGBD5_chr1_230309490_230431332	230396263	CTCCTTTT others(14): Show CTCCTTTTTACCCCCACACTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01069.hp1 others(27): Show HG00099.hp1 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01175.hp1 HG01261.hp1 HG01515.hp2 HG01928.hp1 HG01981.hp1 HG02040.hp1 HG02109.hp1 HG02257.hp1 HG02258.hp2 HG02698.hp2 HG02809.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG04184.hp1 HG06807.hp1 NA18974.hp1 NA19056.hp2 NA19090.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(20): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0026 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0059 a0001c0001t0066 a0001c0001t0074 a0001c0001t0094 a0001c0001t0117 a0001c0001t0126 a0001c0001t0131 a0001c0001t0132 a0001c0001t0136 a0001c0002t0001 a0001c0002t0003 a0001c0002t0015 a0001c0002t0023 a0001c0002t0123	a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0004g0145 others(27): Show a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0005g0011 a0001c0001t0005g0127 a0001c0001t0005g0163 a0001c0001t0009g0228 a0001c0001t0013g0066 a0001c0001t0026g0247 a0001c0001t0039g0223 a0001c0001t0040g0029 a0001c0001t0040g0129 a0001c0001t0042g0003 a0001c0001t0059g0027 a0001c0001t0066g0229 a0001c0001t0074g0148 a0001c0001t0094g0224 a0001c0001t0117g0026 a0001c0001t0126g0256 a0001c0001t0131g0269 a0001c0001t0132g0278 a0001c0001t0136g0261 a0001c0002t0001g0150 a0001c0002t0001g0220 a0001c0002t0003g0246 a0001c0002t0003g0248 a0001c0002t0015g0059 a0001c0002t0023g0194 a0001c0002t0123g0110	30	288	0.1042	-21	c.331 others(40): Show c.331+29314_331+29334delAGAGTGTGGGGGTAAAAAGGA		PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6						chr1	TogoVar
PGBD5_chr1_230309490_230431332	230425752	GGAGGCGG others(14): Show GGAGGCGGCCGAGGAGGAGCGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01255.hp2 HG01255.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0008 a0006c0009t0002g0008	1	288	0.0035	-21	c.156 others(28): Show c.156_176delGCGCTCCTCCTCGGCCGCCTC	p.Arg others(11): Show p.Arg53_Ser59del	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/7	580/10914	156/1575	52/524			chr1	TogoVar
PGGHG_chr11_284126_301107	286801	AGGAGTTC others(14): Show AGGAGTTCGAGATCATCCTGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0024 a0002c0003t0024	a0002c0003t0024g0003 a0002c0003t0024g0003	1	450	0.0022	-21	c.-24 others(32): Show c.-2451_-2431delGGAGTTCGAGATCATCCTGGC		PGGHG	ENSG00000142102.16	transcript	ENST00000409548.7	protein_coding					2324		chr11	TogoVar
PGLYRP2_chr19_15463645_15484501	15467837	TTTTCCTT others(14): Show TTTTCCTTCCTTCCTTCCTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	382	0.0026	-21	c.80 others(30): Show c.805_*825delGGAAGGAAGGAAGGAAGGAAA		PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding					807		chr19	TogoVar
PGLYRP4_chr1_153325120_153353841	153350639	AAGAAAGA others(14): Show AAGAAAGAAAAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	-21	c.-21 others(32): Show c.-2179_-2159delCTTTCTTTCTTTTTTCTTTCT		PGLYRP4	ENSG00000163218.15	transcript	ENST00000359650.10	protein_coding					1799		chr1	TogoVar
PGM2L1_chr11_74325316_74403433	74402828	TATATTAT others(14): Show TATATTATGTATATATATAATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0351 a0001c0004t0019g0351	1	380	0.0026	-21	c.-46 others(32): Show c.-4688_-4668delTATTATATATATACATAATAT		PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding					4396		chr11	TogoVar
PGM5_chr9_68351611_68536061	68353784	GTAATAAT others(14): Show GTAATAATGGTAAATATAATGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	246	0.0041	-21	c.-33 others(32): Show c.-3343_-3323delTAATAATGGTAAATATAATGA		PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding					2826		chr9	TogoVar
PGPEP1L_chr15_98963229_99012792	98979633	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0339 a0001c0001t0034g0339	1	398	0.0025	-21	c.-14 others(40): Show c.-141-8496_-141-8476delAAAAAAAAAAAAAAAAAAAAA		PGPEP1L	ENSG00000183571.11	transcript	ENST00000535714.2	protein_coding	2/4						chr15	TogoVar
PGR_chr11_101024624_101134813	101046292	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0027 a0002c0004t0005g0027	1	254	0.0039	-21	c.248 others(40): Show c.2488+3616_2488+3636delAAAAAAAAAAAAAAAAAAAAA		PGR	ENSG00000082175.16	transcript	ENST00000325455.10	protein_coding	6/7						chr11	TogoVar
PHACTR2_chr6_143672965_143836185	143736554	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	310	0.0032	-21	c.215 others(40): Show c.215-12413_215-12393delTTTTTTTTTTTTTTTTTTTTT		PHACTR2	ENSG00000112419.15	transcript	ENST00000440869.7	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59785875	TACTTCAT others(14): Show TACTTCATTTTGTTTTCCAACG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00597.hp1 others(91): Show HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00738.hp2 HG00741.hp2 HG01109.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01496.hp2 HG01884.hp1 HG01928.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02132.hp1 HG02165.hp2 HG02258.hp1 HG02300.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19084.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0021 a0001c0005t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0008 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0014 others(90): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0221 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0157 a0001c0001t0002g0210 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0238 a0001c0001t0002g0249 a0001c0001t0003g0010 a0001c0001t0003g0090 a0001c0001t0003g0108 a0001c0001t0003g0129 a0001c0001t0003g0137 a0001c0001t0003g0247 a0001c0001t0004g0005 a0001c0001t0004g0052 a0001c0001t0004g0083 a0001c0001t0004g0148 a0001c0001t0004g0180 a0001c0001t0005g0168 a0001c0001t0005g0219 a0001c0001t0006g0073 a0001c0001t0006g0074 a0001c0001t0006g0243 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0007g0114 a0001c0001t0009g0159 a0001c0001t0010g0064 a0001c0001t0011g0021 a0001c0001t0014g0208 a0001c0001t0021g0143 a0001c0005t0003g0035 a0002c0002t0001g0013 a0002c0002t0003g0059 a0002c0002t0008g0225 a0003c0004t0001g0096	94	250	0.3760	-21	c.117 others(42): Show c.1174+11386_1174+11406delACTTCATTTTGTTTTCCAACG		PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	7/12						chr20	TogoVar
PHC1_chr12_8909509_8946467	8927892	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0216 a0004c0008t0002g0216	1	368	0.0027	-21	c.613 others(38): Show c.613-2542_613-2522delCTTTCTTTCTTTCTTTCTTTC		PHC1	ENSG00000111752.11	transcript	ENST00000544916.6	protein_coding	6/14						chr12	TogoVar
PHEX_chrX_22027325_22256310	22204147	TAGCCTGA others(14): Show TAGCCTGAAGTGCTATTCAGTA	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02135.hp1 HG02280.hp1 others(14): Show HG02056.hp1 HG02135.hp1 HG02280.hp1 HG02523.hp1 HG02723.hp1 HG03471.hp1 NA18943.hp1 NA18960.hp1 NA18964.hp2 NA18977.hp1 NA18983.hp1 NA19010.hp2 NA19011.hp2 NA19058.hp1 NA19063.hp1 NA19070.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0013 a0001c0001t0039 others(9): Show a0001c0001t0009 a0001c0001t0013 a0001c0001t0039 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0054 a0001c0001t0055 a0001c0001t0079 a0001c0001t0093 a0001c0001t0105 a0001c0001t0150	a0001c0001t0009g0144 a0001c0001t0009g0200 a0001c0001t0009g0214 others(14): Show a0001c0001t0009g0144 a0001c0001t0009g0200 a0001c0001t0009g0214 a0001c0001t0009g0215 a0001c0001t0013g0064 a0001c0001t0013g0085 a0001c0001t0013g0096 a0001c0001t0039g0181 a0001c0001t0041g0202 a0001c0001t0043g0185 a0001c0001t0044g0224 a0001c0001t0054g0168 a0001c0001t0055g0169 a0001c0001t0079g0191 a0001c0001t0093g0044 a0001c0001t0105g0088 a0001c0001t0150g0032	17	231	0.0736	-21	c.164 others(40): Show c.1646-8756_1646-8736delAGCCTGAAGTGCTATTCAGTA		PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	15/21						chrX	TogoVar
PHEX_chrX_22027325_22256310	22232596	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03579.hp1 HG02615.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0050 a0001c0001t0025 a0001c0001t0050	a0001c0001t0025g0165 a0001c0001t0050g0128 a0001c0001t0025g0165 a0001c0001t0050g0128	2	231	0.0087	-21	c.207 others(40): Show c.2070+4995_2070+5015delTTTTTTTTTTTTTTTTTTTTT		PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	20/21					INFO_REALIGN_3_PRIME	chrX	TogoVar
PHF11_chr13_49490953_49533976	49496005	GCCCAGGC others(14): Show GCCCAGGCGTCGCCGCCCCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02109.hp2 HG02145.hp1 HG03041.hp1 others(2): Show HG02109.hp2 HG02145.hp1 HG03041.hp1 NA19030.hp2 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0015 a0002c0003t0001g0041 a0002c0003t0001g0065 others(1): Show a0002c0003t0001g0015 a0002c0003t0001g0041 a0002c0003t0001g0065 a0002c0003t0001g0067	5	414	0.0121	-21	c.7_2 others(25): Show c.7_27delCAGGCGTCGCCGCCCCGGCCC	p.Gln others(9): Show p.Gln3_Pro9del	PHF11	ENSG00000136147.18	transcript	ENST00000378319.8	protein_coding	1/10	56/1356	7/996	3/331		INFO_REALIGN_3_PRIME	chr13	TogoVar
PHF3_chr6_63630802_63731011	63723788	CATTATTA others(14): Show CATTATTATTATTATTATTATT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02615.hp1 others(1): Show HG02145.hp2 HG02258.hp1 HG02615.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0121 a0001c0001t0015g0122 a0001c0001t0015g0178 others(1): Show a0001c0001t0015g0121 a0001c0001t0015g0122 a0001c0001t0015g0178 a0001c0001t0015g0179	4	320	0.0125	-21	c.10 others(34): Show c.10108_*10128delATTATTATTATTATTATTATT		PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	16/16				10108	INFO_REALIGN_3_PRIME	chr6	TogoVar
PHKG2_chr16_30743425_30766176	30748999	GGGTGGTG others(14): Show GGGTGGTGGTGGTGGTGGTGGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02735.hp2 HG02965.hp1 others(4): Show HG01884.hp1 HG02735.hp2 HG02965.hp1 HG03490.hp1 HG03688.hp1 HG03704.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0014 a0001c0001t0001g0095 a0001c0001t0005g0102 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0095 a0001c0001t0005g0102 a0001c0001t0006g0094 a0001c0001t0008g0100	7	264	0.0265	-21	c.95+ others(34): Show c.95+155_95+175delGTGGTGGTGGTGGTGGTGGTG		PHKG2	ENSG00000156873.16	transcript	ENST00000563588.6	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr16	TogoVar
PHKG2_chr16_30743425_30766176	30749085	GTGGTGCT others(14): Show GTGGTGCTGCTGCTGCTGCTGC	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0046 a0001c0001t0022g0046	1	264	0.0038	-21	c.95+ others(34): Show c.95+173_95+193delGTGCTGCTGCTGCTGCTGCTG		PHKG2	ENSG00000156873.16	transcript	ENST00000563588.6	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr16	TogoVar
PHLDB1_chr11_118602615_118663028	118607329	TGTGGTGG others(14): Show TGTGGTGGTGGTGGTGGTGGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG02523.hp2 HG02622.hp2 others(3): Show HG01943.hp2 HG02523.hp2 HG02622.hp2 HG02723.hp1 NA18943.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0010 a0001c0002t0013 a0001c0003t0008 others(1): Show a0001c0001t0010 a0001c0002t0013 a0001c0003t0008 a0001c0003t0011	a0001c0001t0010g0026 a0001c0002t0013g0219 a0001c0003t0008g0012 others(2): Show a0001c0001t0010g0026 a0001c0002t0013g0219 a0001c0003t0008g0012 a0001c0003t0008g0196 a0001c0003t0011g0173	6	356	0.0169	-21	c.-39 others(30): Show c.-391_-371delGTGGTGGTGGTGGTGGTGGTG		PHLDB1	ENSG00000019144.20	transcript	ENST00000600882.6	protein_coding					285		chr11	TogoVar
PHOX2B_chr4_41739082_41753725	41745975	TGCCGCCG others(14): Show TGCCGCCGCTGCCGCTGCCGCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02602.hp1 NA18941.hp2 NA18952.hp2 HG02602.hp1 NA18941.hp2 NA18952.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0002 a0003c0004t0001 a0003c0004t0002	a0003c0004t0001g0034 a0003c0004t0002g0017 a0003c0004t0001g0034 a0003c0004t0002g0017	3	382	0.0079	-21	c.756 others(28): Show c.756_776delGGCGGCAGCGGCAGCGGCGGC	p.Ala others(13): Show p.Ala253_Ala259del	PHOX2B	ENSG00000109132.7	transcript	ENST00000226382.4	protein_coding	3/3	891/2785	756/945	252/314			chr4	TogoVar
PHTF2_chr7_77793773_77962225	77912710	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	314	0.0032	-21	c.674 others(38): Show c.674+2320_674+2340delTTTTTTTTTTTTTTTTTTTTT		PHTF2	ENSG00000006576.17	transcript	ENST00000422959.8	protein_coding	8/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
PHYHIPL_chr10_59171643_59252770	59173921	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02280.hp2 NA21309.hp2 HG02258.hp2 HG02280.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0080 a0001c0001t0001g0093 a0001c0001t0001g0094	3	202	0.0149	-21	c.-29 others(32): Show c.-2932_-2912delTTTTTTTTTTTTTTTTTTTTT		PHYHIPL	ENSG00000165443.12	transcript	ENST00000373880.9	protein_coding					2721		chr10	TogoVar
PHYHIP_chr8_22214703_22237099	22236057	CTTCACTG others(14): Show CTTCACTGCACTCCAGTCTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	436	0.0023	-21	c.-43 others(32): Show c.-4312_-4292delCCCAGACTGGAGTGCAGTGAA		PHYHIP	ENSG00000168490.14	transcript	ENST00000454243.7	protein_coding					3959		chr8	TogoVar
PI4KA_chr22_20702691_20863811	20767936	AATTATTA others(14): Show AATTATTATTATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG02056.hp2 others(9): Show HG00423.hp2 HG00609.hp1 HG02056.hp2 NA18747.hp2 NA18966.hp2 NA18992.hp2 NA18994.hp1 NA19000.hp1 NA19003.hp2 NA19060.hp2 NA19066.hp1 NA19088.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0288 a0001c0005t0001g0291 a0001c0005t0001g0292 others(9): Show a0001c0005t0001g0288 a0001c0005t0001g0291 a0001c0005t0001g0292 a0001c0005t0001g0293 a0001c0005t0001g0294 a0001c0005t0001g0295 a0001c0005t0001g0296 a0001c0005t0001g0297 a0001c0005t0001g0298 a0001c0005t0001g0299 a0001c0005t0001g0300 a0001c0005t0001g0303	12	334	0.0359	-21	c.232 others(40): Show c.2329-2264_2329-2244delAATAATAATAATAATAATAAT		PI4KA	ENSG00000241973.11	transcript	ENST00000255882.11	protein_coding	19/54						chr22	TogoVar
PI4KA_chr22_20702691_20863811	20840531	ACAGGTGA others(14): Show ACAGGTGAGGAGACTCCTGCAG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0159 a0001c0029t0001g0159	1	334	0.0030	-21	c.157 others(38): Show c.157-1821_157-1801delCTGCAGGAGTCTCCTCACCTG		PI4KA	ENSG00000241973.11	transcript	ENST00000255882.11	protein_coding	1/54						chr22	TogoVar
PI4KA_chr22_20702691_20863811	20840535	GTGAGGAG others(14): Show GTGAGGAGACTCCTGCAGCAGC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	334	0.0030	-21	c.157 others(38): Show c.157-1825_157-1805delGCTGCTGCAGGAGTCTCCTCA		PI4KA	ENSG00000241973.11	transcript	ENST00000255882.11	protein_coding	1/54						chr22	TogoVar
PIAS2_chr18_46798218_46922507	46803044	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG02257.hp1 HG02897.hp2 others(2): Show HG01192.hp1 HG02257.hp1 HG02897.hp2 NA19070.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0054 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0054 a0001c0001t0147 a0001c0001t0148	a0001c0001t0002g0022 a0001c0001t0005g0002 a0001c0001t0054g0131 others(2): Show a0001c0001t0002g0022 a0001c0001t0005g0002 a0001c0001t0054g0131 a0001c0001t0147g0018 a0001c0001t0148g0145	5	322	0.0155	-21	c.93 others(32): Show c.9368_*9388delTTTTTTTTTTTTTTTTTTTTT		PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding					173		chr18	TogoVar
PIBF1_chr13_72777133_73021461	72790455	ACACACAC others(14): Show ACACACACACTTATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0316 a0001c0001t0005g0316	1	346	0.0029	-21	c.253 others(38): Show c.253-1982_253-1962delTTATAGATAGATCACACACAC		PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr13	TogoVar
PID1_chr2_229018973_229276287	229183894	ATATATAT others(14): Show ATATATATATATATATATCCCC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0253 a0001c0002t0025g0253	1	256	0.0039	-21	c.31- others(38): Show c.31-27951_31-27931delGGGGATATATATATATATATA		PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2						chr2	TogoVar
PIERCE2_chr15_55403495_55423798	55421899	TATAATAA others(14): Show TATAATAATAATAATAATAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG02129.hp2 others(2): Show HG00558.hp2 HG00621.hp1 HG02129.hp2 HG03834.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	416	0.0120	-21	c.33 others(32): Show c.3330_*3350delATAATAATAATAATAATAATA		PIERCE2	ENSG00000261652.3	transcript	ENST00000569691.2	protein_coding					3102		chr15	TogoVar
PIEZO2_chr18_10665247_11154569	10731175	GATTATAT others(14): Show GATTATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0093 a0001c0021t0002g0093	1	158	0.0063	-21	c.502 others(38): Show c.5029+211_5029+231delATATATATATATATATATAAT		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55						chr18	TogoVar
PIFO_chr1_111341622_111358013	111355194	CTTCTCTC others(14): Show CTTCTCTCAAAATTGGAGTCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00438.hp2 others(203): Show HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01192.hp2 HG01243.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18985.hp2 NA18988.hp2 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0002c0002t0025 a0003c0003t0002 a0004c0005t0021	a0001c0001t0001g0009 a0001c0001t0001g0063 a0001c0001t0002g0001 others(49): Show a0001c0001t0001g0009 a0001c0001t0001g0063 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0003g0002 a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0006g0002 a0001c0001t0006g0025 a0001c0001t0006g0057 a0001c0001t0006g0059 a0001c0001t0010g0023 a0001c0001t0011g0020 a0001c0001t0013g0048 a0001c0001t0013g0049 a0001c0001t0014g0002 a0001c0001t0017g0013 a0001c0001t0019g0028 a0001c0001t0022g0018 a0001c0001t0023g0009 a0001c0001t0024g0002 a0002c0002t0025g0005 a0003c0003t0002g0007 a0003c0003t0002g0042 a0004c0005t0021g0007	206	440	0.4682	-21	c.38 others(32): Show c.3868_*3888delTTCTCTCAAAATTGGAGTCAG		PIFO	ENSG00000173947.14	transcript	ENST00000369738.9	protein_coding					2182		chr1	TogoVar
PIGG_chr4_494210_545200	542644	TCTTTCTT others(14): Show TCTTTCTTGCCTTCCTGTCTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG02559.hp2 others(3): Show HG02055.hp2 HG02258.hp1 HG02559.hp2 HG02965.hp1 HG03209.hp2 HG03516.hp1	a0005 a0005	a0005c0008 a0005c0021 a0005c0008 a0005c0021	a0005c0008t0004 a0005c0021t0004 a0005c0008t0004 a0005c0021t0004	a0005c0008t0004g0037 a0005c0008t0004g0250 a0005c0008t0004g0276 others(3): Show a0005c0008t0004g0037 a0005c0008t0004g0250 a0005c0008t0004g0276 a0005c0008t0004g0296 a0005c0008t0004g0298 a0005c0021t0004g0227	6	362	0.0166	-21	c.32 others(32): Show c.3276_*3296delCTTTCTTGCCTTCCTGTCTTC		PIGG	ENSG00000174227.16	transcript	ENST00000453061.7	protein_coding					2445		chr4	TogoVar
PIGN_chr18_62036164_62192056	62038919	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG03704.hp2 NA18944.hp2 others(12): Show HG02165.hp2 HG03704.hp2 NA18944.hp2 NA18946.hp1 NA18951.hp1 NA18957.hp2 NA18966.hp1 NA18970.hp2 NA18986.hp2 NA18991.hp2 NA18994.hp1 NA19005.hp1 NA19007.hp2 NA19081.hp2 NA19088.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0008 a0001c0020 a0002c0002 others(1): Show a0001c0008 a0001c0020 a0002c0002 a0005c0012	a0001c0008t0032 a0001c0008t0033 a0001c0008t0058 others(8): Show a0001c0008t0032 a0001c0008t0033 a0001c0008t0058 a0001c0008t0139 a0001c0008t0140 a0001c0008t0141 a0001c0008t0142 a0001c0008t0143 a0001c0020t0123 a0002c0002t0124 a0005c0012t0033	a0001c0008t0032g0291 a0001c0008t0032g0293 a0001c0008t0032g0295 others(12): Show a0001c0008t0032g0291 a0001c0008t0032g0293 a0001c0008t0032g0295 a0001c0008t0033g0307 a0001c0008t0033g0309 a0001c0008t0058g0296 a0001c0008t0058g0308 a0001c0008t0139g0302 a0001c0008t0140g0290 a0001c0008t0141g0306 a0001c0008t0142g0294 a0001c0008t0143g0305 a0001c0020t0123g0184 a0002c0002t0124g0289 a0005c0012t0033g0292	15	342	0.0439	-21	c.69 others(32): Show c.6916_*6936delATTATTATTATTATTATTATT		PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding					2244		chr18	TogoVar
PIGR_chr1_206923522_206951466	206935120	CACCATGA others(14): Show CACCATGATCAATCCAGAGTCT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0033 a0003c0014t0033	a0003c0014t0033g0098 a0003c0014t0033g0098	1	402	0.0025	-21	c.137 others(38): Show c.1378+345_1378+365delAGACTCTGGATTGATCATGGT		PIGR	ENSG00000162896.6	transcript	ENST00000356495.5	protein_coding	5/10						chr1	TogoVar
PIGU_chr20_34555542_34682092	34631762	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	320	0.0031	-21	c.529 others(38): Show c.529+2832_529+2852delTATATATATATATATATATAT		PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11						chr20	TogoVar
PIGU_chr20_34555542_34682092	34631764	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG01070.hp1 others(4): Show HG00642.hp2 HG00733.hp1 HG01070.hp1 HG01071.hp1 HG02886.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0159 a0001c0001t0001g0166 others(4): Show a0001c0001t0001g0137 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0001g0195 a0001c0001t0001g0254 a0001c0001t0001g0269	7	320	0.0219	-21	c.529 others(38): Show c.529+2830_529+2850delTATATATATATATATATATAT		PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11						chr20	TogoVar
PIGU_chr20_34555542_34682092	34631767	ATATATAT others(14): Show ATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02155.hp1 HG02698.hp2 others(2): Show HG02040.hp1 HG02155.hp1 HG02698.hp2 NA18991.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0162 a0001c0001t0001g0169 others(2): Show a0001c0001t0001g0138 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0301 a0001c0001t0001g0318	5	320	0.0156	-21	c.529 others(38): Show c.529+2827_529+2847delAAATATATATATATATATATA		PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11						chr20	TogoVar
PIGU_chr20_34555542_34682092	34631769	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	320	0.0031	-21	c.529 others(38): Show c.529+2825_529+2845delAAAAATATATATATATATATA		PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11						chr20	TogoVar
PIGU_chr20_34555542_34682092	34631781	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	320	0.0031	-21	c.529 others(38): Show c.529+2813_529+2833delAAAAAAAAAAAAAAAAATATA		PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11						chr20	TogoVar
PIGU_chr20_34555542_34682092	34631783	ATATTTTT others(14): Show ATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01123.hp1 NA18945.hp2 others(3): Show HG00423.hp2 HG01123.hp1 NA18945.hp2 NA18967.hp2 NA18992.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0074 a0001c0001t0001g0083 others(3): Show a0001c0001t0001g0060 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0112 a0001c0001t0001g0131	6	320	0.0188	-21	c.529 others(38): Show c.529+2811_529+2831delAAAAAAAAAAAAAAAAAAATA		PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11						chr20	TogoVar
PIGX_chr3_196707377_196741007	196732238	ATATATAT others(14): Show ATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18940.hp1 HG03942.hp2 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0043 a0001c0001t0007 a0001c0001t0043	a0001c0001t0007g0190 a0001c0001t0043g0141 a0001c0001t0007g0190 a0001c0001t0043g0141	2	416	0.0048	-21	c.633 others(38): Show c.633+1150_633+1170delATATATATATATATATTTTAT		PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PIGX_chr3_196707377_196741007	196732242	ATATATAT others(14): Show ATATATATATATATATTTTATT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02074.hp2 HG02698.hp2 HG01358.hp2 HG02074.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0140 a0001c0001t0005g0173 a0001c0001t0005g0242 a0001c0001t0005g0140 a0001c0001t0005g0173 a0001c0001t0005g0242	3	416	0.0072	-21	c.633 others(38): Show c.633+1152_633+1172delATATATATATATATTTTATTT		PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PIGY_chr4_88515998_88528776	88516483	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	446	0.0022	-21	c.50 others(32): Show c.5070_*5090delTTTTTTTTTTTTTTTTTTTTT		PIGY	ENSG00000255072.2	transcript	ENST00000527353.2	protein_coding					4514		chr4	TogoVar
PIK3AP1_chr10_96588315_96725514	96612976	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01069.hp2 others(12): Show HG00642.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01346.hp2 HG01361.hp2 HG02148.hp1 HG02148.hp2 HG03017.hp1 HG03516.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0002c0008 others(3): Show a0001c0001 a0002c0002 a0002c0008 a0002c0028 a0003c0003 a0006c0016	a0001c0001t0001 a0002c0002t0001 a0002c0002t0014 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0014 a0002c0008t0001 a0002c0028t0001 a0003c0003t0001 a0006c0016t0010	a0001c0001t0001g0019 a0001c0001t0001g0041 a0002c0002t0001g0074 others(12): Show a0001c0001t0001g0019 a0001c0001t0001g0041 a0002c0002t0001g0074 a0002c0002t0001g0154 a0002c0002t0001g0156 a0002c0002t0001g0176 a0002c0002t0001g0179 a0002c0002t0014g0256 a0002c0008t0001g0147 a0002c0028t0001g0174 a0003c0003t0001g0001 a0003c0003t0001g0108 a0003c0003t0001g0127 a0006c0016t0010g0103 a0006c0016t0010g0111	15	256	0.0586	-21	c.201 others(40): Show c.2015-3130_2015-3110delAAAAAAAAAAAAAAATATATA		PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	13/16						chr10	TogoVar
PIK3AP1_chr10_96588315_96725514	96612978	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01169.hp2 others(9): Show HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01978.hp2 HG02486.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18968.hp1 NA19056.hp2 NA19058.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0017 a0002c0002 a0001c0001 a0001c0017 a0002c0002	a0001c0001t0001 a0001c0017t0001 a0002c0002t0001 a0001c0001t0001 a0001c0017t0001 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0204 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0204 a0001c0001t0001g0253 a0001c0017t0001g0197 a0002c0002t0001g0068 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0188	12	256	0.0469	-21	c.201 others(40): Show c.2015-3132_2015-3112delAAAAAAAAAAAAAAAAATATA		PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	13/16						chr10	TogoVar
PIK3AP1_chr10_96588315_96725514	96612980	ATATTTTT others(14): Show ATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02155.hp1 NA19012.hp2 HG02132.hp2 HG02155.hp1 NA19012.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0025 a0001c0001 a0008c0025	a0001c0001t0001 a0008c0025t0001 a0001c0001t0001 a0008c0025t0001	a0001c0001t0001g0046 a0001c0001t0001g0211 a0008c0025t0001g0173 a0001c0001t0001g0046 a0001c0001t0001g0211 a0008c0025t0001g0173	3	256	0.0117	-21	c.201 others(40): Show c.2015-3134_2015-3114delAAAAAAAAAAAAAAAAAAATA		PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	13/16						chr10	TogoVar
PIK3C2A_chr11_17081575_17212986	17108242	AAAGTAGT others(14): Show AAAGTAGTGTATCAAATATAAC	A A	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0107 a0001c0001t0009g0107	1	342	0.0029	-21	c.354 others(40): Show c.3544+2169_3544+2189delGTTATATTTGATACACTACTT		PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	22/32						chr11	TogoVar

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