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 limited to 10,000 hits. Refine your search for more specific results.

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
PPP2R5A_chr1_212280410_212366853	212320647	GCCTCCCT others(42): Show GCCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(62): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp2 HG00741.hp2 HG01081.hp1 HG01106.hp2 HG01255.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02523.hp2 HG03831.hp1 HG04184.hp1 NA18940.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18963.hp2 NA18965.hp2 NA18970.hp1 NA18975.hp2 NA18977.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18991.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp2 NA19066.hp1 NA19081.hp2 NA19082.hp2 NA19090.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0003c0007t0003	a0001c0001t0003g0011 a0001c0001t0003g0021 a0001c0001t0003g0217 others(60): Show a0001c0001t0003g0011 a0001c0001t0003g0021 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0009g0012 a0001c0001t0009g0037 a0001c0001t0011g0235 a0003c0007t0003g0273	65	384	0.1693	-49	c.182 others(66): Show c.182-8456_182-8408delGGGGGGCTGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGC		PPP2R5A	ENSG00000066027.12	transcript	ENST00000261461.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
PPP3CA_chr4_101018418_101352526	101099659	TTCCACGA others(42): Show TTCCACGAAGTAAAAACAGTGTTTTGGGGTAGAGAATTTTCAAGGCCCAC	T T	frameshift_variant frameshift_variant	HIGH	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0152 a0002c0005t0005g0152	1	192	0.0052	-49	c.399 others(56): Show c.399_447delGTGGGCCTTGAAAATTCTCTACCCCAAAACACTGTTTT TACTTCGTGGA	p.Trp others(5): Show p.Trp134fs	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	4/14	1177/4743	399/1566	133/521			chr4	TogoVar
PPP5C_chr19_46342087_46395975	46389361	AAACACAC others(42): Show AAACACACACACACACACACACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01261.hp2 HG00544.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0305 a0001c0001t0001g0124 a0001c0001t0001g0305	2	394	0.0051	-49	c.135 others(66): Show c.1355+632_1356-640delACACACACACACACACACACACACACAC ACACACACACACACACACACA		PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP6R1_chr19_55224779_55264017	55261187	CCTGTAAT others(42): Show CCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGTGGATCACCCTGTCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	378	0.0027	-49	c.-28 others(60): Show c.-2808_-2760delTGACAGGGTGATCCACCCTCCTCGGCCTCCCAAA GTGCTGGGATTACAG		PPP6R1	ENSG00000105063.19	transcript	ENST00000412770.7	protein_coding					2171		chr19	TogoVar
PPP6R2_chr22_50338327_50450090	50339979	TATGTAGT others(42): Show TATGTAGTGTGTGTTATGTGGCGTGTGTGTGGTATGTAGTGTGTGTGTAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	340	0.0029	-49	c.-37 others(60): Show c.-3718_-3670delATGTAGTGTGTGTTATGTGGCGTGTGTGTGGTAT GTAGTGTGTGTGTAG		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding					3347		chr22	TogoVar
PRAMEF11_chr1_12819605_12836410	12830668	GTCACCAT others(42): Show GTCACCATGCTCGGCTAATTAAAAAAAAAAAAAGTAGAGGCCAAGCACCA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0028 a0028	a0028c0016 a0028c0016	a0028c0016t0005 a0028c0016t0005	a0028c0016t0005g0132 a0028c0016t0005g0132	1	404	0.0025	-49	c.-17 others(64): Show c.-17+639_-17+687delTGGTGCTTGGCCTCTACTTTTTTTTTTTTT AATTAGCCGAGCATGGTGA		PRAMEF11	ENSG00000239810.3	transcript	ENST00000619922.1	protein_coding	1/3						chr1	TogoVar
PRDM16_chr1_3064203_3443621	3287601	GCCCCTGC others(42): Show GCCCCTGCCATGCGGGCATCGAGGATTGCATTTACCGGGGCTGGAGCCGC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03579.hp2 NA21309.hp2 HG02145.hp1 HG03579.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0002c0007 a0001c0006 a0002c0003 a0002c0007	a0001c0006t0011 a0002c0003t0007 a0002c0007t0024 a0001c0006t0011 a0002c0003t0007 a0002c0007t0024	a0001c0006t0011g0039 a0002c0003t0007g0103 a0002c0007t0024g0070 a0001c0006t0011g0039 a0002c0003t0007g0103 a0002c0007t0024g0070	3	210	0.0143	-49	c.438 others(68): Show c.438+43474_438+43522delTGCGGGCATCGAGGATTGCATTTACC GGGGCTGGAGCCGCCCCCTGCCA		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDX3_chr10_119162720_119183812	119182167	CCCCCCAC others(42): Show CCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGGCTGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02976.hp2 HG03209.hp2 others(2): Show HG01884.hp2 HG02976.hp2 HG03209.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0053 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0053	5	426	0.0117	-49	c.-34 others(60): Show c.-3426_-3378delTTCAGCCCCCCCGCCCGGCCAGCTGCCCCGTCCG GGAGGGAGGTGGGGG		PRDX3	ENSG00000165672.7	transcript	ENST00000298510.4	protein_coding					3356		chr10	TogoVar
PRKAA1_chr5_40754389_40803374	40800547	TGGGGGGG others(42): Show TGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	402	0.0025	-49	c.-24 others(60): Show c.-2407_-2359delCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGCTGACCCCCCC		PRKAA1	ENSG00000132356.12	transcript	ENST00000397128.7	protein_coding					2174		chr5	TogoVar
PRKCA_chr17_66297613_66815743	66562105	ATTATATA others(42): Show ATTATATATATAATTAAATATATATAATTAAATTATATATATAATTAAAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG03098.hp2 HG01069.hp1 HG01071.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0016 a0001c0005t0012 a0001c0001t0016 a0001c0005t0012	a0001c0001t0016g0150 a0001c0005t0012g0047 a0001c0005t0012g0048 a0001c0001t0016g0150 a0001c0005t0012g0047 a0001c0005t0012g0048	3	178	0.0169	-49	c.288 others(68): Show c.288+65824_288+65872delTATATATATAATTAAATATATATAAT TAAATTATATATATAATTAAATT		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCB_chr16_23830983_24225611	24125044	CCAATCCC others(42): Show CCAATCCCAATCTTTTTTACCTATAATTAATCGTTACCTATAATTAATTG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0085 a0001c0003t0085	a0001c0003t0085g0073 a0001c0003t0085g0073	1	148	0.0068	-49	c.106 others(68): Show c.1065+1077_1065+1125delTTTTACCTATAATTAATCGTTACCTA TAATTAATTGCAATCCCAATCTT		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	9/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCE_chr2_45646675_46192990	45744486	TTTTTCTT others(42): Show TTTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02622.hp1 HG03209.hp2 others(1): Show HG00558.hp1 HG02622.hp1 HG03209.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0132 a0001c0001t0002g0003 a0001c0001t0004g0063 others(1): Show a0001c0001t0001g0132 a0001c0001t0002g0003 a0001c0001t0004g0063 a0001c0002t0001g0118	4	168	0.0238	-49	c.348 others(68): Show c.348+92041_348+92089delTTCTTTCTTTCTTTTCTTTCTTTCTT TCTTTCTTTCTTTTTCTTTCCTT		PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCZ_chr1_2045411_2190395	2094394	GCCCGCTG others(42): Show GCCCGCTGTGCCCGGCTCGTTGAACCTTGGGCGCTGCCCGTTCTGAGGCA	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	286	0.0035	-49	c.334 others(68): Show c.334+34852_334+34900delACCCGCTGTGCCCGGCTCGTTGAACC TTGGGCGCTGCCCGTTCTGAGGC		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2094545	TCTGTGCC others(42): Show TCTGTGCCCGGCTCGATGAACCTTGGGCGCTGCCCGTTCTGAGGCGCCCG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp1 HG01243.hp2 others(26): Show HG01109.hp2 HG01123.hp1 HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02258.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0003c0005t0016	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(26): Show a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0277 a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0017g0019 a0003c0005t0016g0180	29	286	0.1014	-49	c.334 others(68): Show c.334+35018_334+35066delATGAACCTTGGGCGCTGCCCGTTCTG AGGCGCCCGCTGTGCCCGGCTCG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	162339482	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0026 a0003c0005t0002g0026	1	32	0.0313	-49	c.172 others(68): Show c.172-76766_172-76718delGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGC		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11						chr6	TogoVar
PRLR_chr5_35050702_35235487	35083783	ACTGGCAT others(42): Show ACTGGCATTACAGGCGTGAGGCACCGCGCCCAGCCTACATTCTTTATTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp1 HG01109.hp1 others(20): Show HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01346.hp2 HG01952.hp1 HG02055.hp1 HG02258.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp1 HG02735.hp1 HG02965.hp2 HG03017.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp2 HG03688.hp1 NA18942.hp2 NA18968.hp2 NA19005.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 others(8): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0011 a0002c0002t0018 a0002c0002t0024 a0002c0002t0028 a0002c0002t0033 a0002c0002t0055 a0002c0002t0059 a0002c0005t0027	a0002c0002t0001g0051 a0002c0002t0001g0111 a0002c0002t0003g0022 others(20): Show a0002c0002t0001g0051 a0002c0002t0001g0111 a0002c0002t0003g0022 a0002c0002t0003g0023 a0002c0002t0003g0097 a0002c0002t0003g0123 a0002c0002t0003g0143 a0002c0002t0003g0168 a0002c0002t0003g0180 a0002c0002t0007g0115 a0002c0002t0007g0116 a0002c0002t0007g0120 a0002c0002t0007g0173 a0002c0002t0011g0014 a0002c0002t0011g0015 a0002c0002t0011g0117 a0002c0002t0018g0158 a0002c0002t0024g0002 a0002c0002t0028g0102 a0002c0002t0033g0081 a0002c0002t0055g0205 a0002c0002t0059g0211 a0002c0005t0027g0101	23	214	0.1075	-49	c.373 others(64): Show c.373+638_373+686delAAAATAAAGAATGTAGGCTGGGCGCGGTGC CTCACGCCTGTAATGCCAG		PRLR	ENSG00000113494.17	transcript	ENST00000618457.5	protein_coding	5/9						chr5	TogoVar
PRPF31_chr19_54110754_54136713	54131050	TGTCCTCA others(42): Show TGTCCTCAAGCATTGGTTGTTTTTAGCACCCCTGAGGAACTTCGTACAAA	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	227	0.0044	-49	c.137 others(66): Show c.1375-256_1375-208delGTCCTCAAGCATTGGTTGTTTTTAGCAC CCCTGAGGAACTTCGTACAAA		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding	13/13						chr19	TogoVar
PRPF8_chr17_1645629_1689867	1689300	CTCCCGGA others(42): Show CTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0134 a0001c0002t0004g0134	1	291	0.0034	-49	c.-45 others(60): Show c.-4581_-4533delTGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCATCCGGGA		PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding					4434		chr17	TogoVar
PRPF8_chr17_1645629_1689867	1689649	CACCTCCC others(42): Show CACCTCCCTCCTGGATGGGGCGGCTGGCCGGGCGGGGGGCTGATGCCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 NA18979.hp1 HG03942.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0162 a0001c0001t0001g0029 a0001c0001t0001g0162	2	291	0.0069	-49	c.-49 others(60): Show c.-4930_-4882delCGGGGCATCAGCCCCCCGCCCGGCCAGCCGCCCC ATCCAGGAGGGAGGT		PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding					4783		chr17	TogoVar
PRPF8_chr17_1645629_1689867	1689779	AGGGGGCT others(42): Show AGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGTGGGGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02083.hp1 HG02015.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0054 a0001c0001t0001g0004 a0001c0001t0001g0054	2	291	0.0069	-49	c.-50 others(60): Show c.-5060_-5012delCGCCCCACCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGTCAGCCCCC		PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding					4913		chr17	TogoVar
PRR32_chrX_126814729_126826786	126821612	TTGTACCC others(42): Show TTGTACCCTCCCACACTCTGTTTAGCACTAATGTGCCCTACTTGAAACCA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0001 a0001c0002t0007g0001	1	334	0.0030	-49	c.78 others(57): Show c.78_*126delTGTACCCTCCCACACTCTGTTTAGCACTAATGTGCCC TACTTGAAACCA		PRR32	ENSG00000183631.5	transcript	ENST00000371125.4	protein_coding	2/2				78		chrX	TogoVar
PRR32_chrX_126814729_126826786	126821613	TGTACCCT others(42): Show TGTACCCTCCCACACTCTGTTTAGCACTAATGTGCCCTACTTGAAACCAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03516.hp2 HG06807.hp2 HG03516.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0001 a0001c0002t0005g0001	2	334	0.0060	-49	c.11 others(58): Show c.117_*165delCTTGAAACCACGTACCCTCCCACACTCTGTTTAGCA CTAATGTGCCCTA		PRR32	ENSG00000183631.5	transcript	ENST00000371125.4	protein_coding	2/2				117	INFO_REALIGN_3_PRIME	chrX	TogoVar
PRSS41_chr16_2793470_2810304	2801936	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18955.hp2 NA18960.hp1 others(3): Show NA18947.hp1 NA18955.hp2 NA18960.hp1 NA18986.hp2 NA18995.hp1 NA19011.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0009 a0001c0001 a0011c0009	a0001c0001t0001 a0011c0009t0001 a0001c0001t0001 a0011c0009t0001	a0001c0001t0001g0010 a0011c0009t0001g0068 a0001c0001t0001g0010 a0011c0009t0001g0068	6	426	0.0141	-49	c.541 others(66): Show c.541+2396_542-2376delGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCG		PRSS41	ENSG00000215148.11	transcript	ENST00000399677.5	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRSS41_chr16_2793470_2810304	2801965	GGGGGCTG others(42): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGT	G G	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	426	0.0024	-49	c.542 others(66): Show c.542-2408_542-2360delACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGTGGGGCTGACCCCCCC		PRSS41	ENSG00000215148.11	transcript	ENST00000399677.5	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRTN3_chr19_835999_853175	844220	CCGCCTCT others(42): Show CCGCCTCTCCCCCGCCCGCGCCTCTCCCCCGCCCGCGCCTCTCCCCTGCG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG01243.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0246 a0001c0001t0001g0131 a0001c0001t0001g0246	2	415	0.0048	-49	c.369 others(64): Show c.369+232_369+280delTGCGCGCCTCTCCCCCGCCCGCGCCTCTCC CCCGCCCGCGCCTCTCCCC		PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
PRTN3_chr19_835999_853175	844321	CGCCTCTC others(42): Show CGCCTCTCCCTTGCCCGCCCCTCTCCCCTGCCCGCGCCTCTCCCCTGCAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp1 NA19030.hp1 HG02559.hp1 HG02622.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0256 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0256	3	415	0.0072	-49	c.369 others(64): Show c.369+335_369+383delATGCCTCTCCCTTGCCCGCCCCTCTCCCCT GCCCGCGCCTCTCCCCTGC		PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
PSD3_chr8_18522303_19018703	18752481	ATTATATA others(42): Show ATTATATATATAATATATATAATATATATAATATATGTAATATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA18963.hp1 NA19081.hp2 HG01975.hp2 NA18963.hp1 NA19081.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0034 a0001c0001 a0010c0034	a0001c0001t0016 a0001c0001t0024 a0010c0034t0001 a0001c0001t0016 a0001c0001t0024 a0010c0034t0001	a0001c0001t0016g0078 a0001c0001t0024g0027 a0010c0034t0001g0058 a0001c0001t0016g0078 a0001c0001t0024g0027 a0010c0034t0001g0058	3	228	0.0132	-49	c.217 others(70): Show c.2172+12919_2172+12967delATTATATATATTACATATATTATA TATATTATATATATTATATATATAA		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15						chr8	TogoVar
PSD3_chr8_18522303_19018703	18865246	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02486.hp2 HG03195.hp2 others(1): Show HG01496.hp2 HG02486.hp2 HG03195.hp2 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0013 a0004c0010 a0001c0013 a0004c0010	a0001c0013t0001 a0004c0010t0002 a0004c0010t0012 a0001c0013t0001 a0004c0010t0002 a0004c0010t0012	a0001c0013t0001g0007 a0004c0010t0002g0134 a0004c0010t0002g0145 others(1): Show a0001c0013t0001g0007 a0004c0010t0002g0134 a0004c0010t0002g0145 a0004c0010t0012g0118	4	228	0.0175	-49	c.163 others(68): Show c.1634+2379_1634+2427delAAAAAAAAATATATATATATATATAT ATATATATATATATATATATATA		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15						chr8	TogoVar
PSEN1_chr14_73131507_73228691	73184020	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	378	0.0027	-49	c.481 others(66): Show c.481-2826_481-2778delGGACGGGGCGGCTGGCCAGGCGGGGGGC TGATCCCCCCACCTCCCTCCC		PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73184108	CCCCCCCC others(42): Show CCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGCCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02976.hp2 HG03195.hp1 others(1): Show HG02647.hp1 HG02976.hp2 HG03195.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0004 a0003c0003t0003 a0001c0001t0003 a0001c0001t0004 a0003c0003t0003	a0001c0001t0003g0151 a0001c0001t0003g0305 a0001c0001t0004g0304 others(1): Show a0001c0001t0003g0151 a0001c0001t0003g0305 a0001c0001t0004g0304 a0003c0003t0003g0366	4	378	0.0106	-49	c.481 others(66): Show c.481-2722_481-2674delAGGGCGGCTGGCCGGCCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGAC		PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73184131	AGGGCGGC others(42): Show AGGGCGGCTGGCCGGCCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	378	0.0027	-49	c.481 others(66): Show c.481-2707_481-2659delCCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGG		PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73184146	CCGGGGGG others(42): Show CCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00639.hp2 others(46): Show HG00140.hp2 HG00423.hp1 HG00639.hp2 HG00733.hp2 HG01070.hp1 HG01346.hp2 HG01433.hp2 HG01891.hp1 HG02015.hp1 HG02040.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02145.hp1 HG02155.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02976.hp1 HG03139.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03579.hp1 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18946.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18960.hp2 NA18962.hp2 NA18969.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19056.hp1 NA19066.hp2 NA19074.hp2 NA19082.hp2 NA19087.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0031	a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 others(45): Show a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0355 a0001c0001t0002g0369 a0001c0001t0003g0002 a0001c0001t0003g0108 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0004g0101 a0001c0001t0004g0116 a0001c0001t0004g0376 a0001c0001t0009g0197 a0001c0001t0009g0198 a0001c0001t0009g0201 a0001c0001t0031g0222	49	378	0.1296	-49	c.481 others(66): Show c.481-2558_481-2510delGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGC		PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA1_chr11_14499876_14525386	14509561	CGGCTGAT others(42): Show CGGCTGATTTTTGTATTTTTAATAGAGACAGGGTTTCATCGTGTTGGCCA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	412	0.0024	-49	c.624 others(66): Show c.624+1262_624+1310delTGGCCAACACGATGAAACCCTGTCTCTA TTAAAAATACAAAAATCAGCC		PSMA1	ENSG00000129084.18	transcript	ENST00000396394.7	protein_coding	8/9						chr11	TogoVar
PSPC1_chr13_19697500_19787945	19779340	CCCCCCCG others(42): Show CCCCCCCGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	258	0.0039	-49	c.372 others(66): Show c.372+2997_372+3045delCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCGGGCGGGGGG		PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8						chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779846	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02109.hp1 HG02559.hp1 others(3): Show HG00735.hp1 HG02109.hp1 HG02559.hp1 HG02647.hp1 HG02723.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 others(3): Show a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0109 a0001c0001t0002g0120	6	258	0.0233	-49	c.372 others(66): Show c.372+2491_372+2539delCGGGGCGGCTGGCCGGGCGGGGGGCCGA CCCCCCCACCTCCCTCCCGGA		PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8						chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779866	GGTCGGCC others(42): Show GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp1 HG02809.hp2 others(3): Show HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG03195.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 others(3): Show a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0117	6	258	0.0233	-49	c.372 others(66): Show c.372+2471_372+2519delACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGAC		PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8						chr13	TogoVar
PSPC1_chr13_19697500_19787945	19780104	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(128): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02698.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18940.hp1 NA18961.hp1 NA18969.hp1 NA18969.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18987.hp1 NA18991.hp1 NA18995.hp1 NA19000.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0001 a0001c0001t0007 a0001c0001t0013	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 others(128): Show a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0007g0138 a0001c0001t0007g0255 a0001c0001t0013g0121	131	258	0.5078	-49	c.372 others(66): Show c.372+2233_372+2281delGGGGGGCTGATCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGC		PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8						chr13	TogoVar
PTBP2_chr1_96716784_96820049	96762378	GGCTGGCC others(42): Show GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02280.hp2 HG02630.hp2 HG00735.hp2 HG02280.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0010 a0001c0001t0007g0016 a0001c0001t0007g0009 a0001c0001t0007g0010 a0001c0001t0007g0016	3	364	0.0082	-49	c.116 others(66): Show c.116-7282_116-7234delTGGGGCAGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGA		PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP2_chr1_96716784_96820049	96762439	GGGGGGCT others(42): Show GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCT	G G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18954.hp1 NA18964.hp2 others(1): Show NA18942.hp1 NA18954.hp1 NA18964.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0093 others(1): Show a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0093 a0001c0001t0003g0094	4	364	0.0110	-49	c.116 others(66): Show c.116-7249_116-7201delCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCTGGGGGCTGACCCCC		PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
PTGER3_chr1_70965782_71052816	71046878	AGGCAGAG others(42): Show AGGCAGAGGCGAAGAAAAGGTTGCCCCAGTTATGCGAAGAGCTAGTCCCG	A A	frameshift_variant frameshift_variant	HIGH	HG02145.hp1 HG02145.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0353 a0005c0010t0002g0353	1	372	0.0027	-49	c.651 others(56): Show c.651_699delCGGGACTAGCTCTTCGCATAACTGGGGCAACCTTTTCT TCGCCTCTGCC	p.Gly others(5): Show p.Gly218fs	PTGER3	ENSG00000050628.21	transcript	ENST00000306666.10	protein_coding	1/4	938/2360	651/1173	217/390			chr1	TogoVar
PTPN2_chr18_12787152_12889237	12874209	GTCAGCCC others(42): Show GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG02615.hp2 others(6): Show HG01243.hp1 HG02145.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02970.hp2 HG04115.hp1 HG04228.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0017 a0001c0001t0020	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0004g0153 others(6): Show a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0004g0153 a0001c0001t0005g0094 a0001c0001t0012g0001 a0001c0001t0012g0002 a0001c0001t0012g0004 a0001c0001t0017g0003 a0001c0001t0020g0165	9	370	0.0243	-49	c.69+ others(64): Show c.69+9815_69+9863delACCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGA		PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8						chr18	TogoVar
PTPN2_chr18_12787152_12889237	12874591	TTCAGCCC others(42): Show TTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0285 a0001c0001t0006g0285	1	370	0.0027	-49	c.69+ others(64): Show c.69+9433_69+9481delCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGA		PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8						chr18	TogoVar
PTPN9_chr15_75458251_75584315	75504363	CCCCGTCC others(42): Show CCCCGTCCGGGAGGGAGGTGGGGGGCTCAGCCCCCCGCCCGGCCAGCCGA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	326	0.0031	-49	c.968 others(66): Show c.968+1263_968+1311delTCGGCTGGCCGGGCGGGGGGCTGAGCCC CCCACCTCCCTCCCGGACGGG		PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12						chr15	TogoVar
PTPN9_chr15_75458251_75584315	75504770	CGGCCAGC others(42): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp1 HG02965.hp2 others(4): Show HG02257.hp2 HG02630.hp1 HG02965.hp2 NA18939.hp2 NA18944.hp1 NA18970.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0034	a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0004g0122 others(4): Show a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0004g0122 a0001c0001t0004g0126 a0001c0001t0004g0137 a0001c0001t0005g0148 a0001c0001t0034g0191	7	326	0.0215	-49	c.968 others(64): Show c.968+856_968+904delAGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCC		PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12						chr15	TogoVar
PTPRA_chr20_2868481_3043669	3019164	AACCTCCC others(42): Show AACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGTGGGGCTGACCCCCCC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG03130.hp2 others(3): Show HG02280.hp1 HG02559.hp2 HG03130.hp2 HG03516.hp2 NA20129.hp2 NA21309.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0139 a0002c0005t0001g0140 a0002c0005t0001g0141 others(3): Show a0002c0005t0001g0139 a0002c0005t0001g0140 a0002c0005t0001g0141 a0002c0005t0001g0142 a0002c0005t0001g0143 a0002c0005t0001g0144	6	356	0.0169	-49	c.104 others(68): Show c.1041+1275_1041+1323delCGGCCGGGCGTGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGC		PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	13/23					INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRR_chr12_70633079_70925738	70666907	CCATTTTT others(42): Show CCATTTTTGATTAACTGTGTGTTTTTCTGTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02735.hp1 HG03490.hp1 HG01361.hp1 HG02735.hp1 HG03490.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0083 a0006c0007t0001g0084 a0006c0007t0001g0090 a0006c0007t0001g0083 a0006c0007t0001g0084 a0006c0007t0001g0090	3	204	0.0147	-49	c.149 others(68): Show c.1498-4351_1498-4303delAAAAAAAAAAAAAAAAAAAAACAGAA AAACACACAGTTAATCAAAAATG		PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	10/13						chr12	TogoVar
PTRH1_chr9_127708807_127720663	127717847	AGCTCTGT others(42): Show AGCTCTGTCTCCTTAGATTCCTCCTTGTCCCTGTGTCTGGGTCCCCCCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	348	0.0029	-49	c.-22 others(60): Show c.-2257_-2209delCGGGGGGGACCCAGACACAGGGACAAGGAGGAAT CTAAGGAGACAGAGC		PTRH1	ENSG00000187024.15	transcript	ENST00000543175.5	protein_coding					2185		chr9	TogoVar
PXMP2_chr12_132682587_132709985	132692556	TAGTGAGC others(42): Show TAGTGAGCACCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG00735.hp1 others(80): Show HG00438.hp1 HG00642.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp2 HG02056.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG02523.hp2 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp2 NA18979.hp2 NA18989.hp2 NA18993.hp1 NA18998.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0004 a0003c0009 others(1): Show a0001c0002 a0001c0004 a0003c0009 a0004c0006	a0001c0002t0002 a0001c0002t0006 a0001c0004t0002 others(2): Show a0001c0002t0002 a0001c0002t0006 a0001c0004t0002 a0003c0009t0002 a0004c0006t0002	a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0023 others(35): Show a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0153 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0006g0002 a0001c0004t0002g0080 a0003c0009t0002g0062 a0004c0006t0002g0051	83	350	0.2371	-49	c.236 others(66): Show c.236+2188_236+2236delACCCTTGCCAGTTAGTTAGTGAGCGCCC TTGCCAGTTAGTTAAGTGAGC		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP2_chr12_132682587_132709985	132694921	CAGTTAGT others(42): Show CAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00438.hp1 others(116): Show HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02293.hp1 HG02523.hp2 HG02615.hp2 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19078.hp2 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0003 a0001c0008 others(2): Show a0001c0002 a0001c0003 a0001c0008 a0003c0009 a0004c0006	a0001c0002t0002 a0001c0002t0006 a0001c0003t0003 others(4): Show a0001c0002t0002 a0001c0002t0006 a0001c0003t0003 a0001c0003t0008 a0001c0008t0003 a0003c0009t0002 a0004c0006t0002	a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0006 others(58): Show a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0153 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0006g0002 a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0044 a0001c0003t0003g0046 a0001c0003t0003g0047 a0001c0003t0003g0147 a0001c0003t0003g0148 a0001c0003t0003g0149 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0154 a0001c0003t0003g0156 a0001c0003t0003g0157 a0001c0003t0003g0158 a0001c0003t0003g0169 a0001c0003t0003g0170 a0001c0003t0008g0155 a0001c0008t0003g0095 a0003c0009t0002g0062 a0004c0006t0002g0051	119	350	0.3400	-49	c.237 others(64): Show c.237-920_237-872delGCCAGTTAGTTAGTGAGCTCCCTTAGCCAG TTAGTTAGTGAGCTCCCTT		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP4_chr20_33697758_33725310	33699417	GTCAGCCC others(42): Show GTCAGCCCCCCGCCCGGCCAGCCTCCCTGTCCGGGAGGGAGGTGGGGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0033	a0002c0002t0033g0193 a0002c0002t0033g0193	1	388	0.0026	-49	c.82 others(60): Show c.8240_*8288delACCCCCCACCTCCCTCCCGGACAGGGAGGCTGGC CGGGCGGGGGGCTGA		PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding					3340		chr20	TogoVar

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