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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	412	0.0024	38	c.174 others(55): Show c.174+1096_174+1097insATATATATATATATATATATATATATAT TTTTTTTTTT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 NA18948.hp2 others(2): Show HG01069.hp1 HG01071.hp2 NA18948.hp2 NA18975.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0279 a0001c0002t0001g0280 others(2): Show a0001c0002t0001g0004 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0282 a0001c0002t0001g0298	5	364	0.0137	38	c.905 others(55): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP3_chr9_112213435_112338619	112244289	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	342	0.0029	38	c.802 others(55): Show c.802+6639_802+6640insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATGTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0221 a0001c0003t0015g0221	1	380	0.0026	38	c.-20 others(49): Show c.-2010_-2009insAAAAAAAAAACATATATATATATATATATATATA TATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTDSS2_chr11_445279_496399	459095	G G	GACACACT others(31): Show GACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp1 HG02280.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0159 a0001c0001t0004g0161	2	346	0.0058	38	c.183 others(55): Show c.183-1092_183-1091insACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11			chr11	TogoVar
PTGDS_chr9_136972504_136986742	136984956	C C	CGGCCCCT others(31): Show CGGCCCCTCCCTGCCCCTCTGGCCCCTCCCTGCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	382	0.0026	38	c.33 others(49): Show c.3378_*3379insGGCCCCTCCCTGCCCCTCTGGCCCCTCCCTGCCC CTCT	PTGDS	ENSG00000107317.13	transcript	ENST00000371625.8	protein_coding		3215		chr9	TogoVar
PTGES3L_chr17_42963103_42985080	42970674	G G	GCACACAC others(31): Show GCACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0044 a0003c0003t0001g0044	1	336	0.0030	38	c.379 others(53): Show c.379-333_379-332insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding	5/6			chr17	TogoVar
PTGES3_chr12_56658349_56693284	56674825	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	372	0.0027	38	c.3-1 others(51): Show c.3-1761_3-1760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGR1_chr9_111557567_111604647	111560974	T T	TATATATA others(31): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	408	0.0025	38	c.21 others(49): Show c.2146_*2147insCTCTCTCTCTCTCTCTCTCTCTATATATATATAT ATAT	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1592		chr9	TogoVar
PTGR2_chr14_73846831_73890726	73876483	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0062 a0001c0001t0004g0062	1	420	0.0024	38	c.349 others(53): Show c.349-499_349-498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTK2B_chr8_27320552_27464386	27320980	C C	CACCAGGC others(31): Show CACCAGGCATCTCATTGGCATACAAAAGGCTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	328	0.0031	38	c.-47 others(49): Show c.-4739_-4738insACCAGGCATCTCATTGGCATACAAAAGGCTTTTT TTTT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding		4571		chr8	TogoVar
PTK2B_chr8_27320552_27464386	27350990	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	328	0.0031	38	c.-38 others(57): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAAAAAAAAAAATA TATATATATATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A2_chr1_31901421_31943368	31908140	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0170 a0001c0001t0170	a0001c0001t0170g0339 a0001c0001t0170g0339	1	354	0.0028	38	c.71 others(47): Show c.711_*712insTAATATATATATATATATATATATATATATATATAT AT	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	711		chr1	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCGCGC others(31): Show GCTCGCGCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	310	0.0032	38	c.102 others(57): Show c.1026-1230_1026-1229insGCGCGCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCTCTC others(31): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0203 a0003c0003t0001g0203	1	310	0.0032	38	c.102 others(57): Show c.1026-1219_1026-1182dupTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18995.hp2 HG02129.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0127 a0001c0001t0072 a0001c0001t0127	a0001c0001t0072g0113 a0001c0001t0127g0238 a0001c0001t0072g0113 a0001c0001t0127g0238	2	272	0.0074	38	c.-15 others(59): Show c.-155+31117_-155+31118insATATATATATATATATATATATAT ATTTTTTTTTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN18_chr2_130351056_130380405	130361504	T T	TTTTCTTT others(31): Show TTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0130 a0002c0002t0002g0130	1	380	0.0026	38	c.414 others(55): Show c.414+1868_414+1905dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN18_chr2_130351056_130380405	130361512	C C	CTCTTTCT others(31): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp2 HG02717.hp1 HG02818.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0058 a0002c0004t0009g0058	2	380	0.0053	38	c.414 others(55): Show c.414+1893_414+1894insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN18_chr2_130351056_130380405	130361524	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0185 a0003c0005t0004g0185	1	380	0.0026	38	c.414 others(55): Show c.414+1880_414+1917dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN18_chr2_130351056_130380405	130361528	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02976.hp2 NA18522.hp2 HG02280.hp2 HG02976.hp2 NA18522.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0186 a0003c0005t0004g0187 a0003c0005t0004g0188 a0003c0005t0004g0186 a0003c0005t0004g0187 a0003c0005t0004g0188	3	380	0.0079	38	c.414 others(55): Show c.414+1883_414+1920dupTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN1_chr20_50505383_50590241	50534948	T T	TGAACTCC others(31): Show TGAACTCCTGCCTTCAGGCGGAACTCCTGCCTTCAGGCG	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0292 a0001c0002t0001g0292	1	336	0.0030	38	c.63+ others(55): Show c.63+24360_63+24397dupAACTCCTGCCTTCAGGCGGAACTCCTGC CTTCAGGCGG	PTPN1	ENSG00000196396.10	transcript	ENST00000371621.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN2_chr18_12787152_12889237	12807582	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	370	0.0027	38	c.859 others(55): Show c.859-5432_859-5431insATATATATATATATATATATATATATAT ATATATATAT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02293.hp2 NA18942.hp1 HG01192.hp2 HG02293.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0348 a0001c0001t0001g0360 a0001c0001t0001g0339 a0001c0001t0001g0348 a0001c0001t0001g0360	3	370	0.0081	38	c.859 others(55): Show c.859-5436_859-5435insATATATATATATATATATATTTTTTTTT TTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18961.hp1 HG02280.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0207 a0001c0001t0001g0182 a0001c0001t0001g0207	2	370	0.0054	38	c.859 others(55): Show c.859-5436_859-5435insATATATATATATATATATATATATTTTT TTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01346.hp1 HG01081.hp2 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0209 a0001c0001t0001g0169 a0001c0001t0001g0209	2	370	0.0054	38	c.859 others(55): Show c.859-5436_859-5435insATATATATATATATATATATATATATTT TTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	370	0.0027	38	c.859 others(55): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT TTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN9_chr15_75458251_75584315	75537753	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	326	0.0031	38	c.64- others(55): Show c.64-10493_64-10492insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPRD_chr9_8309246_10618002	8557455	T T	TATATATA others(31): Show TATATATATATATATATATATATACACACATACACATAC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0023 a0001c0001t0019g0023	1	34	0.0294	38	c.353 others(57): Show c.353-28677_353-28676insGTATGTGTATGTGTGTATATATATAT ATATATATATAT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	14/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	8557455	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0031 a0001c0003t0023g0031	1	34	0.0294	38	c.353 others(57): Show c.353-28677_353-28676insGTATATATATATATATATATATATAT ATATATATATAT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	14/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	8934480	T T	TATATATA others(31): Show TATATATATATAAATATATATATAAATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0023 a0001c0001t0019g0023	1	34	0.0294	38	c.-10 others(59): Show c.-104+84216_-104+84217insTTATATATATATATTTATATATAT ATTTATATATATAT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	8948543	T T	TTATATAT others(31): Show TTATATATATATTTATATATATATTTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03834.hp1 HG02683.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0016 a0001c0001t0001 a0001c0012t0016	a0001c0001t0001g0006 a0001c0012t0016g0028 a0001c0001t0001g0006 a0001c0012t0016g0028	2	34	0.0588	38	c.-10 others(59): Show c.-104+70153_-104+70154insTATAAATATATATAAATATATATA TAAATATATATATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45			chr9	TogoVar
PTPRG_chr3_61556571_62302609	61621051	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	94	0.0106	38	c.85+ others(55): Show c.85+58680_85+58681insATATATATATATATATATATATATATGT GTGTGTGTGT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61621051	A A	ATATATAT others(31): Show ATATATATATATATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0002 a0005c0011t0002	a0005c0011t0002g0080 a0005c0011t0002g0080	1	94	0.0106	38	c.85+ others(55): Show c.85+58680_85+58681insATATATATATATATATATGTGTGTGTGT GTGTGTGTGT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61672739	A A	AGGGAGAG others(31): Show AGGGAGAGGGAGAGGGAGAAGAGGGAGAGGGAGACTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp1 HG02896.hp1 others(3): Show HG00735.hp2 HG01071.hp1 HG02896.hp1 NA18522.hp1 NA18998.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0002c0003t0002	a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0002g0062 others(3): Show a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0002g0062 a0001c0001t0016g0029 a0002c0003t0002g0052 a0002c0003t0002g0061	6	94	0.0638	38	c.86- others(55): Show c.86-76121_86-76120insAGAGGGAGAGGGAGACTGTGGGGAGAGG GAGAGGGAGA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRH_chr19_55176247_55214501	55186564	C C	CCAGGCAG others(31): Show CCAGGCAGAGAGACCCAGAGAGGCACAGAGACAAGACCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG00741.hp1 others(47): Show HG00323.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01175.hp1 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG02004.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03654.hp1 HG03927.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0004 others(15): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0012 a0013 a0014 a0017 a0018 a0022 a0028 a0030 a0035 a0038 a0039	a0001c0014 a0002c0002 a0002c0013 others(26): Show a0001c0014 a0002c0002 a0002c0013 a0002c0028 a0002c0036 a0002c0104 a0004c0078 a0004c0107 a0005c0006 a0005c0098 a0006c0010 a0006c0060 a0007c0011 a0007c0012 a0007c0073 a0008c0027 a0012c0068 a0013c0034 a0014c0099 a0017c0031 a0017c0088 a0018c0055 a0022c0049 a0022c0050 a0028c0058 a0030c0065 a0035c0077 a0038c0084 a0039c0119	a0001c0014t0001 a0002c0002t0002 a0002c0013t0001 others(26): Show a0001c0014t0001 a0002c0002t0002 a0002c0013t0001 a0002c0028t0006 a0002c0036t0001 a0002c0104t0001 a0004c0078t0001 a0004c0107t0001 a0005c0006t0001 a0005c0098t0001 a0006c0010t0001 a0006c0060t0001 a0007c0011t0001 a0007c0012t0001 a0007c0073t0001 a0008c0027t0001 a0012c0068t0001 a0013c0034t0001 a0014c0099t0001 a0017c0031t0001 a0017c0088t0001 a0018c0055t0001 a0022c0049t0001 a0022c0050t0001 a0028c0058t0001 a0030c0065t0001 a0035c0077t0001 a0038c0084t0001 a0039c0119t0001	a0001c0014t0001g0092 a0001c0014t0001g0132 a0002c0002t0002g0278 others(43): Show a0001c0014t0001g0092 a0001c0014t0001g0132 a0002c0002t0002g0278 a0002c0013t0001g0017 a0002c0013t0001g0030 a0002c0013t0001g0141 a0002c0028t0006g0317 a0002c0036t0001g0095 a0002c0104t0001g0303 a0004c0078t0001g0097 a0004c0107t0001g0311 a0005c0006t0001g0053 a0005c0006t0001g0054 a0005c0006t0001g0071 a0005c0006t0001g0102 a0005c0098t0001g0306 a0006c0010t0001g0019 a0006c0060t0001g0119 a0007c0011t0001g0018 a0007c0011t0001g0048 a0007c0011t0001g0087 a0007c0011t0001g0088 a0007c0011t0001g0140 a0007c0012t0001g0147 a0007c0012t0001g0166 a0007c0012t0001g0221 a0007c0012t0001g0222 a0007c0012t0001g0225 a0007c0012t0001g0301 a0007c0073t0001g0072 a0008c0027t0001g0261 a0012c0068t0001g0098 a0013c0034t0001g0089 a0013c0034t0001g0118 a0014c0099t0001g0042 a0017c0031t0001g0052 a0017c0031t0001g0312 a0017c0088t0001g0185 a0018c0055t0001g0148 a0022c0049t0001g0157 a0022c0050t0001g0156 a0028c0058t0001g0109 a0030c0065t0001g0308 a0035c0077t0001g0112 a0038c0084t0001g0120 a0039c0119t0001g0177	50	378	0.1323	38	c.256 others(53): Show c.2567-62_2567-25dupTGGTCTTGTCTCTGTGCCTCTCTGGGTCTC TCTGCCTG	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	14/19			chr19	TogoVar
PTPRH_chr19_55176247_55214501	55208577	T T	TCCTGGGT others(31): Show TCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGATTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0160 a0009c0009t0001g0160	1	378	0.0027	38	c.51+ others(51): Show c.51+805_51+806insGAATCCAGACCCCCAGCCCCTCCTCCCTCAGA CCCAGG	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRM_chr18_7562316_8411856	8054297	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0044 a0001c0005t0002g0044	1	80	0.0125	38	c.113 others(59): Show c.1133-15389_1133-15388insTATATATATATATATATATATATA TATATATATATATA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32			chr18	TogoVar
PTPRM_chr18_7562316_8411856	8054298	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0012 a0001c0006t0002g0012	1	80	0.0125	38	c.113 others(59): Show c.1133-15364_1133-15363insATATATATATATATATATATATAT ATATATATATATAT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRO_chr12_15317508_15603331	15360875	T T	TATGTGTG others(31): Show TATGTGTGTATATACATATATACACACGTGTATATACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0084 a0001c0002t0012g0084	1	164	0.0061	38	c.75+ others(55): Show c.75+38075_75+38076insTGTGTGTATATACATATATACACACGTG TATATACACA	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRQ_chr12_80439235_80685273	80558119	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0052 a0052	a0052c0041 a0052c0041	a0052c0041t0007 a0052c0041t0007	a0052c0041t0007g0055 a0052c0041t0007g0055	1	178	0.0056	38	c.428 others(57): Show c.4285+8392_4285+8393insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTTTCTTT	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRT_chr20_42067756_43194906	43083320	G G	GTGTATAT others(31): Show GTGTATATATATATATATATACATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0011 a0002c0001t0002g0011	1	62	0.0161	38	c.88+ others(57): Show c.88+106325_88+106326insTATATATATATATATATGTATATATA TATATATATACA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PUM1_chr1_30926506_31070717	30933428	T T	TCACACAC others(31): Show TCACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0197 a0001c0001t0007g0197	1	334	0.0030	38	c.343 others(53): Show c.3436-87_3436-86insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	21/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972447	G G	GGGAGGGG others(31): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0231 a0001c0002t0004g0231	1	334	0.0030	38	c.150 others(57): Show c.1506+2203_1506+2204insTCTTCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCC	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972447	G G	GGGAGGGG others(31): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0203 a0001c0002t0004g0203	1	334	0.0030	38	c.150 others(57): Show c.1506+2203_1506+2204insTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCC	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA19065.hp2 HG01256.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0069 a0001c0001t0002g0039 a0001c0001t0002g0069	2	334	0.0060	38	c.364 others(57): Show c.364-10121_364-10120insAAAAAAAATATATATATATATATATA TATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp2 NA18968.hp1 HG01261.hp1 HG02055.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0001 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0124 a0001c0001t0003g0207 a0001c0001t0011g0356 a0001c0001t0001g0124 a0001c0001t0003g0207 a0001c0001t0011g0356	3	358	0.0084	38	c.195 others(57): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUS7_chr7_105451503_105527271	105455576	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01884.hp2 HG02886.hp1 others(4): Show HG01074.hp1 HG01884.hp2 HG02886.hp1 HG03491.hp2 HG03942.hp1 HG04199.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0051 a0001c0001t0001g0169 a0001c0001t0001g0186 others(4): Show a0001c0001t0001g0051 a0001c0001t0001g0169 a0001c0001t0001g0186 a0001c0001t0001g0201 a0001c0001t0001g0287 a0001c0001t0002g0321 a0001c0001t0002g0325	7	350	0.0200	38	c.22 others(49): Show c.2213_*2214insATATATATATATATATATATATATATATATATAT ATAT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		926		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456102	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATAAATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0315	1	350	0.0029	38	c.16 others(49): Show c.1687_*1688insTTATATTTATATATATATATATATATATATATAT ATAT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		400		chr7	TogoVar
PWWP2A_chr5_160086339_160124450	160109783	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATAAAATAATATAAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01123.hp1 HG00738.hp2 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0099 a0001c0001t0001g0082 a0001c0001t0001g0099	2	384	0.0052	38	c.584 others(55): Show c.584+8984_584+9021dupATTATATTATTTTATATATATATATATA TATATATATA	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109788	T T	TATATATA others(31): Show TATATATATATATATATATATATATAAAATAATATAATA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	384	0.0026	38	c.584 others(55): Show c.584+9016_584+9017insTATTATATTATTTTATATATATATATAT ATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar

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