Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
PLA2G4A_chr1_186823949_186993981	186866171	CCTAGTGC others(59): Show CCTAGTGCAGTCTGGACTAGTTTGAAATTGCATGTGATAGTGGCCCCAGG AAACATGGTAAGCGGTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	310	0.0032	-66	c.34- others(81): Show c.34-4261_34-4196delAGTGCAGTCTGGACTAGTTTGAAATTGCAT GTGATAGTGGCCCCAGGAAACATGGTAAGCGGTTCT	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLCH2_chr1_2471289_2510532	2483945	TGGCGCTG others(59): Show TGGCGCTGACTCCCGTGTGGGGGGGCGCTGACTCCCGTGTGGGGGGGCGC TGACTCCCGTGTGGGGG	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0065 a0001c0003t0001g0065	1	383	0.0026	-66	c.646 others(81): Show c.646-482_646-417delGGGGCGCTGACTCCCGTGTGGGGGGGCGCT GACTCCCGTGTGGGGGGGCGCTGACTCCCGTGTGGG	PLCH2	ENSG00000149527.18	transcript	ENST00000378486.8	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLCL1_chr2_197799593_198154863	197866110	ATATATAT others(59): Show ATATATATATATAAACTATATATATATATAAACTATATATATATATAAAC TATATATATATATAAAC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG06807.hp2 HG02280.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0005 a0001c0006t0016 a0001c0001t0005 a0001c0006t0016	a0001c0001t0005g0143 a0001c0006t0016g0141 a0001c0001t0005g0143 a0001c0006t0016g0141	2	204	0.0098	-66	c.240 others(85): Show c.240+60784_240+60849delAACTATATATATATATAAACTATATA TATATATAAACTATATATATATATAAACTATATATATATA	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCL1_chr2_197799593_198154863	197866127	ATATATAT others(59): Show ATATATATATATAAACTATATATATATATAAACTATATATATATATAAAC TATATATATATATAAAC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02630.hp2 HG03516.hp1 HG01175.hp2 HG02630.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0003 a0001c0004t0010 a0002c0002t0011 a0001c0004t0003 a0001c0004t0010 a0002c0002t0011	a0001c0004t0003g0128 a0001c0004t0010g0047 a0002c0002t0011g0071 a0001c0004t0003g0128 a0001c0004t0010g0047 a0002c0002t0011g0071	3	204	0.0147	-66	c.240 others(85): Show c.240+60801_240+60866delAACTATATATATATATAAACTATATA TATATATAAACTATATATATATATAAACTATATATATATA	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLEKHG4B_chr5_87168_194966	104035	CCCAGTCC others(59): Show CCCAGTCCCAGCACCGATTCCTAAACAACCTCAGCCAGTCCCAGCACCGA TTCCTAAACAACCACAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01081.hp2 others(3): Show HG00280.hp2 HG00323.hp2 HG01081.hp2 HG02004.hp2 HG04204.hp1 NA19030.hp1	a0014 a0019 a0039 others(2): Show a0014 a0019 a0039 a0040 a0041	a0014c0065 a0019c0019 a0039c0062 others(2): Show a0014c0065 a0019c0019 a0039c0062 a0040c0063 a0041c0064	a0014c0065t0038 a0019c0019t0010 a0019c0019t0062 others(3): Show a0014c0065t0038 a0019c0019t0010 a0019c0019t0062 a0039c0062t0010 a0040c0063t0063 a0041c0064t0010	a0014c0065t0038g0166 a0019c0019t0010g0164 a0019c0019t0062g0191 others(3): Show a0014c0065t0038g0166 a0019c0019t0010g0164 a0019c0019t0062g0191 a0039c0062t0010g0165 a0040c0063t0063g0189 a0041c0064t0010g0190	6	210	0.0286	-66	c.46- others(81): Show c.46-9087_46-9022delACAGCCAGTCCCAGCACCGATTCCTAAACA ACCTCAGCCAGTCCCAGCACCGATTCCTAAACAACC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLPP1_chr5_55419854_55539964	55512478	AAAAAAGA others(59): Show AAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02523.hp2 NA18941.hp1 others(2): Show HG02155.hp1 HG02523.hp2 NA18941.hp1 NA19005.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0125 a0001c0001t0001g0126 others(2): Show a0001c0001t0001g0063 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128	5	294	0.0170	-66	c.58+ others(83): Show c.58+22028_58+22093delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTCTTTTCTTTTCTTTTCTTTCTTTCTTTCTTTTT	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	1/5			chr5	TogoVar
PLPP2_chr19_276043_296403	281838	GGGGTCCA others(59): Show GGGGTCCAGGGAAGGACTGGGATTGGGGGGAAGGGGTCCCAGGGGAGGAC TTTGGGGGTAATGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19043.hp1 HG02145.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0202 a0001c0001t0001g0139 a0001c0001t0001g0202	2	354	0.0057	-66	c.717 others(81): Show c.717+230_717+295delTCTTCATTACCCCCAAAGTCCTCCCCTGGG ACCCCTTCCCCCCAATCCCAGTCCTTCCCTGGACCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding	5/5			chr19	TogoVar
PLXNA1_chr3_126978115_127042389	127019173	AGTGTTCC others(59): Show AGTGTTCCTGCTGCAGTGTAGGACCTTAGCCATGTGGTCCAGCATGGGGT TGTCATGAATTCCACTG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	346	0.0029	-66	c.389 others(83): Show c.3895+647_3895+712delTGTTCCTGCTGCAGTGTAGGACCTTAGC CATGTGGTCCAGCATGGGGTTGTCATGAATTCCACTGG	PLXNA1	ENSG00000114554.12	transcript	ENST00000393409.3	protein_coding	20/31		INFO_REALIGN_3_PRIME	chr3	TogoVar
PMPCA_chr9_136405658_136428761	136421129	CCCTGCGC others(59): Show CCCTGCGCCGGAGGCGTCTGGGGAAGCCCCAGAACCTGTGTTTCATTTGT TTTCCCCGATTTTGCCG	C C	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0046 a0001c0003t0002g0046	1	390	0.0026	-66	c.126 others(83): Show c.1264-702_1264-637delCCTGCGCCGGAGGCGTCTGGGGAAGCCC CAGAACCTGTGTTTCATTTGTTTTCCCCGATTTTGCCG	PMPCA	ENSG00000165688.14	transcript	ENST00000371717.8	protein_coding	11/12			chr9	TogoVar
POFUT1_chr20_32202880_32243658	32231111	GCCAGGAT others(59): Show GCCAGGATGGTCCCACTGCCCACTGCATGCTTCACGGGCTCCCCTACAAG CCTTTTGCCTGGACCTA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02015.hp1 HG02027.hp1 others(5): Show HG00438.hp1 HG02015.hp1 HG02027.hp1 NA18747.hp1 NA18952.hp1 NA19009.hp1 NA19068.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0128 a0001c0001t0004g0132 a0001c0001t0004g0008 a0001c0001t0004g0128 a0001c0001t0004g0132	8	322	0.0248	-66	c.978 others(80): Show c.978+54_978+119delGGATGGTCCCACTGCCCACTGCATGCTTCAC GGGCTCCCCTACAAGCCTTTTGCCTGGACCTACCA	POFUT1	ENSG00000101346.15	transcript	ENST00000375749.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
POLE_chr12_132618762_132692342	132684103	CTGACTGG others(59): Show CTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCTCAT TCACAGAGAGCTACCAT	C C	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	292	0.0034	-66	c.63- others(81): Show c.63-2890_63-2825delATGGTAGCTCTCTGTGAATGAGAGCCTGTG TGGAGTACTGGGACGGTGTGATACAGTAACCAGTCA	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	1/48			chr12	TogoVar
POLE_chr12_132618762_132692342	132684506	ATATCACA others(59): Show ATATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTA CCATTGACTGGTTACTG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	292	0.0034	-66	c.62+ others(81): Show c.62+2682_62+2747delCAGTAACCAGTCAATGGTAGCTCTCTGTGA ATGAGAGCCTGTGTGGAGTACTGGGACGGTGTGATA	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	1/48			chr12	TogoVar
POTEG_chr14_19397486_19439341	19432401	TATACACA others(59): Show TATACACACACATGTATATATATGTATATACGTATATATATATATACATA TATATATACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02083.hp1 HG02523.hp2 others(2): Show HG00323.hp1 HG02083.hp1 HG02523.hp2 HG03195.hp2 HG04199.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0004c0034 a0006c0005 a0004c0004 a0004c0034 a0006c0005	a0004c0004t0007 a0004c0034t0012 a0006c0005t0005 a0004c0004t0007 a0004c0034t0012 a0006c0005t0005	a0004c0004t0007g0013 a0004c0034t0012g0014 a0006c0005t0005g0021 others(2): Show a0004c0004t0007g0013 a0004c0034t0012g0014 a0006c0005t0005g0021 a0006c0005t0005g0022 a0006c0005t0005g0023	5	111	0.0451	-66	c.521 others(83): Show c.521+1302_521+1367delGTATATATGTATATATATATGTATATAT ATATATACGTATATACATATATATACATGTGTGTGTAT	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding	1/10			chr14	TogoVar
POTEJ_chr2_130606440_130663037	130613255	CACATATA others(59): Show CACATATATACATATATATACATATGTATATATACATATATATACATATG TATATATACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0103 a0009c0009t0001g0103	1	131	0.0076	-66	c.410 others(83): Show c.410+1320_410+1385delATACATATATATACATATGTATATATAC ATATATATACATATGTATATATACATATATATACATAT	POTEJ	ENSG00000222038.4	transcript	ENST00000409602.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPIAL4C_chr1_149578848_149589607	149583460	AAAAGAAG others(59): Show AAAAGAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	448	0.0022	-66	c.-43 others(75): Show c.-437_-372delAAAGAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	PPIAL4C	ENSG00000288867.1	transcript	ENST00000585245.3	protein_coding		387		chr1	TogoVar
PPP1R12C_chr19_55085918_55122637	55097552	CCACGCAG others(59): Show CCACGCAGTTCACCACCGTCTTCACCCCTTCCCCGCGCAGTTCACCACCG TCTTCGCCCCTTCCCCG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02055.hp2 HG04204.hp2 others(1): Show HG01496.hp1 HG02055.hp2 HG04204.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0024 a0001c0004 a0001c0024	a0001c0004t0001 a0001c0024t0001 a0001c0004t0001 a0001c0024t0001	a0001c0004t0001g0213 a0001c0004t0001g0216 a0001c0004t0001g0230 others(1): Show a0001c0004t0001g0213 a0001c0004t0001g0216 a0001c0004t0001g0230 a0001c0024t0001g0206	4	390	0.0103	-66	c.951 others(83): Show c.951+1166_952-1218delCGGGGAAGGGGCGAAGACGGTGGTGAAC TGCGCGGGGAAGGGGTGAAGACGGTGGTGAACTGCGTG	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	6/21			chr19	TogoVar
PPP2R2C_chr4_6315581_6477614	6353787	CCCACACA others(59): Show CCCACACACCAACAGCGCCCCCACACCGACAGCCCCCAACACCGACAGCC CCCAACACCGACAGCCG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18747.hp1 HG02145.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0030 a0001c0002t0013 a0001c0001t0030 a0001c0002t0013	a0001c0001t0030g0002 a0001c0002t0013g0215 a0001c0001t0030g0002 a0001c0002t0013g0215	2	298	0.0067	-66	c.626 others(83): Show c.626-5843_626-5778delCGGCTGTCGGTGTTGGGGGCTGTCGGTG TTGGGGGCTGTCGGTGTGGGGGCGCTGTTGGTGTGTGG	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	5/8			chr4	TogoVar
PPP2R2D_chr10_131896008_131964834	131952623	GGGGGGTT others(59): Show GGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGGGGGTTCACTTA GTGACTTTCGGGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0071 a0001c0001t0008g0071	1	394	0.0025	-66	c.108 others(85): Show c.1083-3022_1083-2957delGGGTTCACTTAGTGACTTTCGGGTGT GTGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGG	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R5C_chr14_101756709_101932977	101918478	CCCCCCAC others(59): Show CCCCCCACCCCTCCCCCCACCCCTCAGCCTTCTCCCCTCGCCCCCCTCAT CCCCCTCGCTCCTCTCG	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03471.hp1 HG06807.hp1 HG02132.hp2 HG03471.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0013 a0002c0002t0001 a0001c0001t0001 a0001c0003t0013 a0002c0002t0001	a0001c0001t0001g0072 a0001c0003t0013g0019 a0002c0002t0001g0102 a0001c0001t0001g0072 a0001c0003t0013g0019 a0002c0002t0001g0102	3	138	0.0217	-66	c.160 others(83): Show c.1608+537_1608+602delACCCCTCCCCCCACCCCTCAGCCTTCTC CCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCC	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP5C_chr19_46342087_46395975	46389362	AACACACA others(59): Show AACACACACACACACACACACACACACACACACACACACACACACACACA CACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	394	0.0025	-66	c.135 others(83): Show c.1356-655_1356-590delCACACACACACACACACACACACACACA CACACACACACACACACACACACACACACACACACACA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP6R2_chr22_50338327_50450090	50381278	CCACACGG others(59): Show CCACACGGGCCCCACCTCAGCACCACACGGGCCCCACCTCAGCATCACAC GGGCCTCACCTCAGCAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0070 a0001c0002t0023g0070	1	340	0.0029	-66	c.-17 others(83): Show c.-17+9183_-17+9248delTCACCTCAGCATCACACGGGCCCCACCT CAGCACCACACGGGCCCCACCTCAGCATCACACGGGCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRDM15_chr21_41793225_41884344	41856136	CTTCCTTT others(59): Show CTTCCTTTCCTTCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTCCCT CCCCTCCCTCCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02818.hp2 HG03195.hp2 others(2): Show HG01243.hp1 HG02818.hp2 HG03195.hp2 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0010 a0001c0005 a0001c0010	a0001c0005t0007 a0001c0010t0012 a0001c0010t0025 a0001c0005t0007 a0001c0010t0012 a0001c0010t0025	a0001c0005t0007g0010 a0001c0010t0012g0008 a0001c0010t0012g0009 others(2): Show a0001c0005t0007g0010 a0001c0010t0012g0008 a0001c0010t0012g0009 a0001c0010t0012g0012 a0001c0010t0025g0006	5	406	0.0123	-66	c.285 others(82): Show c.285+974_285+1039delAGGAAGGGAGGGAGGGGAGGGAGGGAAGG AAGGGAGGGAGGGGAGGGAGGGAAGGAAGGAAAGGAA	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3345757	CCTCGGGT others(59): Show CCTCGGGTCCTCCCGTGCTGCCCCCTCTGTGGTCCAGGCCACCCCTTGGT TCCTCCTGTGCTGCCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00639.hp2 others(49): Show HG00140.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03209.hp1 HG03239.hp1 HG03540.hp2 HG03579.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(12): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0012 a0001c0013 a0001c0017 a0001c0021 a0001c0029 a0001c0031 a0002c0003 a0002c0007 a0002c0015 a0003c0005 a0003c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(38): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0022 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0070 a0001c0001t0072 a0001c0001t0077 a0001c0001t0083 a0001c0002t0001 a0001c0002t0002 a0001c0002t0071 a0001c0004t0007 a0001c0004t0010 a0001c0004t0029 a0001c0004t0055 a0001c0008t0001 a0001c0008t0002 a0001c0008t0040 a0001c0012t0009 a0001c0013t0001 a0001c0017t0054 a0001c0021t0049 a0001c0029t0065 a0001c0031t0037 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0059 a0002c0007t0002 a0002c0007t0019 a0002c0015t0014 a0003c0005t0001 a0003c0005t0006 a0003c0011t0001	a0001c0001t0001g0029 a0001c0001t0001g0125 a0001c0001t0001g0189 others(49): Show a0001c0001t0001g0029 a0001c0001t0001g0125 a0001c0001t0001g0189 a0001c0001t0004g0046 a0001c0001t0008g0097 a0001c0001t0011g0022 a0001c0001t0013g0002 a0001c0001t0014g0069 a0001c0001t0020g0105 a0001c0001t0022g0040 a0001c0001t0042g0124 a0001c0001t0045g0024 a0001c0001t0046g0042 a0001c0001t0070g0100 a0001c0001t0072g0008 a0001c0001t0077g0036 a0001c0001t0083g0027 a0001c0002t0001g0019 a0001c0002t0001g0080 a0001c0002t0002g0091 a0001c0002t0002g0135 a0001c0002t0071g0099 a0001c0004t0007g0038 a0001c0004t0007g0063 a0001c0004t0007g0071 a0001c0004t0010g0034 a0001c0004t0010g0130 a0001c0004t0029g0044 a0001c0004t0055g0004 a0001c0008t0001g0005 a0001c0008t0002g0059 a0001c0008t0040g0021 a0001c0012t0009g0113 a0001c0012t0009g0193 a0001c0013t0001g0104 a0001c0017t0054g0134 a0001c0021t0049g0023 a0001c0029t0065g0131 a0001c0031t0037g0156 a0002c0003t0001g0142 a0002c0003t0002g0102 a0002c0003t0004g0048 a0002c0003t0004g0068 a0002c0003t0059g0037 a0002c0007t0002g0045 a0002c0007t0019g0020 a0002c0015t0014g0073 a0003c0005t0001g0171 a0003c0005t0006g0053 a0003c0011t0001g0056 a0003c0011t0001g0057 a0003c0011t0001g0185	52	210	0.2476	-66	c.439 others(85): Show c.439-39372_439-39307delCCTCTGTGGTCCAGGCCACCCCTTGG TTCCTCCTGTGCTGCCCTCTCGGGTCCTCCCGTGCTGCCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRIM1_chr12_56726580_56757323	56733460	GGGATTAG others(59): Show GGGATTAGAATTCTTACAGCAGCTACACTGAAAGGAGTTCAGATACCACC ATTTTCATATGAAATCT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03225.hp1 HG03516.hp2 HG02055.hp2 HG03225.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0144 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0144	3	336	0.0089	-66	c.124 others(83): Show c.1243+621_1243+686delAGATTTCATATGAAAATGGTGGTATCTG AACTCCTTTCAGTGTAGCTGCTGTAAGAATTCTAATCC	PRIM1	ENSG00000198056.16	transcript	ENST00000338193.11	protein_coding	12/12			chr12	TogoVar
PRKCA_chr17_66297613_66815743	66798512	GTGGTGAC others(59): Show GTGGTGACGGTGGTGGTGATGGTGGTGACGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19240.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0057 a0001c0001t0015 a0001c0001t0057	a0001c0001t0015g0100 a0001c0001t0057g0054 a0001c0001t0015g0100 a0001c0001t0057g0054	2	178	0.0112	-66	c.185 others(85): Show c.1855-5355_1855-5290delACGGTGGTGGTGATGGTGGTGACGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799564	GGTGATGG others(59): Show GGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGGTGATGGTA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02895.hp1 HG02896.hp1 HG02572.hp2 HG02895.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0075 a0001c0001t0087 a0001c0001t0054 a0001c0001t0075 a0001c0001t0087	a0001c0001t0054g0044 a0001c0001t0075g0033 a0001c0001t0087g0112 a0001c0001t0054g0044 a0001c0001t0075g0033 a0001c0001t0087g0112	3	178	0.0169	-66	c.185 others(85): Show c.1855-4308_1855-4243delGTGATGGTGGTGGTGGTGATGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTA	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16			chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2060449	TGAGAAGT others(59): Show TGAGAAGTGGGGCTGAATAGAGGTTTGGCAGTGCTTAGCATAGGGGGCGA GAGTCTCGGCTTCCAGC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00639.hp1 others(47): Show HG00408.hp2 HG00438.hp2 HG00639.hp1 HG00642.hp1 HG01069.hp2 HG01070.hp2 HG01109.hp1 HG01192.hp1 HG01256.hp2 HG01261.hp1 HG01433.hp1 HG01517.hp1 HG02027.hp1 HG02080.hp2 HG02148.hp1 HG02273.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02895.hp2 HG02896.hp1 HG02970.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18612.hp1 NA18943.hp1 NA18964.hp2 NA18969.hp2 NA18975.hp1 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19055.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19082.hp2 NA19087.hp2 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004	a0001c0002t0001g0013 a0001c0002t0001g0070 a0001c0002t0001g0095 others(47): Show a0001c0002t0001g0013 a0001c0002t0001g0070 a0001c0002t0001g0095 a0001c0002t0001g0103 a0001c0002t0001g0148 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0233 a0001c0002t0001g0238 a0001c0002t0001g0243 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0267 a0001c0002t0001g0276 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0035 a0001c0002t0002g0041 a0001c0002t0004g0149 a0001c0002t0004g0215	50	286	0.1748	-66	c.334 others(81): Show c.334+889_334+954delTGCTTAGCATAGGGGGCGAGAGTCTCGGCT TCCAGCGAGAAGTGGGGCTGAATAGAGGTTTGGCAG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PROZ_chr13_113153648_113177386	113154253	TGGGGGGC others(59): Show TGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGG GGAGGCGGGGCGCGGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG03195.hp1 others(1): Show HG02280.hp1 HG02559.hp2 HG03195.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0003 a0001c0001t0002 a0001c0004t0003	a0001c0001t0002g0217 a0001c0004t0003g0198 a0001c0004t0003g0200 others(1): Show a0001c0001t0002g0217 a0001c0004t0003g0198 a0001c0004t0003g0200 a0001c0004t0003g0211	4	378	0.0106	-66	c.-44 others(77): Show c.-4407_-4342delGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGT GACGCAGGGCGCGGGGGAGGCGGGGCGCGGGG	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4394		chr13	TogoVar
PRR12_chr19_49586182_49631439	49623729	ATAGATGG others(59): Show ATAGATGGTTAGGATGGGGCCGAGAATTCTGGGGTAGGTGGTTAGGATGG GGCCGAGAATTCTGGGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01433.hp1 HG02055.hp1 others(1): Show HG01109.hp1 HG01433.hp1 HG02055.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0157 a0001c0002t0001g0052 a0001c0002t0001g0054 others(1): Show a0001c0001t0001g0157 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0056	4	322	0.0124	-66	c.572 others(85): Show c.5722-1095_5722-1030delCGAGAATTCTGGGGTAGGTGGTTAGG ATGGGGCCGAGAATTCTGGGGTAGATGGTTAGGATGGGGC	PRR12	ENSG00000126464.15	transcript	ENST00000418929.7	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRR12_chr19_49586182_49631439	49623799	ATGGTTAG others(59): Show ATGGTTAGGATGGGGCTGGGAATTCTGGGATAGCTGGTTAGGATGGGGCT GGGAATTCTGGGGTAGG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01175.hp2 others(14): Show HG01070.hp1 HG01071.hp1 HG01175.hp2 HG02258.hp2 HG02451.hp1 HG02896.hp2 HG02897.hp1 HG03225.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG04199.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0009 a0001c0016 a0001c0020 others(3): Show a0001c0009 a0001c0016 a0001c0020 a0002c0004 a0002c0035 a0010c0032	a0001c0009t0002 a0001c0016t0001 a0001c0020t0002 others(4): Show a0001c0009t0002 a0001c0016t0001 a0001c0020t0002 a0002c0004t0004 a0002c0004t0007 a0002c0035t0004 a0010c0032t0004	a0001c0009t0002g0144 a0001c0009t0002g0145 a0001c0009t0002g0146 others(14): Show a0001c0009t0002g0144 a0001c0009t0002g0145 a0001c0009t0002g0146 a0001c0016t0001g0155 a0001c0016t0001g0156 a0001c0020t0002g0147 a0001c0020t0002g0148 a0002c0004t0004g0040 a0002c0004t0004g0041 a0002c0004t0004g0043 a0002c0004t0004g0044 a0002c0004t0004g0045 a0002c0004t0007g0034 a0002c0004t0007g0035 a0002c0004t0007g0036 a0002c0035t0004g0042 a0010c0032t0004g0046	17	322	0.0528	-66	c.572 others(83): Show c.5722-950_5722-885delATAGCTGGTTAGGATGGGGCTGGGAATT CTGGGGTAGGTGGTTAGGATGGGGCTGGGAATTCTGGG	PRR12	ENSG00000126464.15	transcript	ENST00000418929.7	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PSORS1C1_chr6_31109800_31145092	31111507	CCCCCAGC others(59): Show CCCCCAGCTGCCTCCTGGATACCGATTAATATTCCCCCAGCTGCCTCCTG GATACCGATTAATATTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0165 a0004c0005t0006g0165	1	449	0.0022	-66	c.-36 others(77): Show c.-3612_-3547delCCCCAGCTGCCTCCTGGATACCGATTAATATTCC CCCAGCTGCCTCCTGGATACCGATTAATATTT	PSORS1C1	ENSG00000204540.11	transcript	ENST00000259881.10	protein_coding		3292		chr6	TogoVar
PTGDS_chr9_136972504_136986742	136978711	GGATGTGA others(59): Show GGATGTGAGGGGCGGGGTCATCTCCTGGGGCGGGGATGTGAGGGGCGTGG TCAGCTCCTGGGGCGGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03453.hp2 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0040 a0001c0001t0001g0041	2	382	0.0052	-66	c.115 others(81): Show c.115-245_115-180delGTGAGGGGCGTGGTCAGCTCCTGGGGCGGA GATGTGAGGGGCGGGGTCATCTCCTGGGGCGGGGAT	PTGDS	ENSG00000107317.13	transcript	ENST00000371625.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
PTGFR_chr1_78485974_78545701	78532416	ATGTGTGT others(59): Show ATGTGTGTATATATGTGTATATATTTGTGTGTGTATATGTGTATATATTT GTGTGTGTATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp1 HG03453.hp1 others(1): Show HG01891.hp2 HG02809.hp1 HG03453.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0232 a0001c0001t0002g0077 a0001c0001t0002g0078 others(1): Show a0001c0001t0001g0232 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0009g0088	4	386	0.0104	-66	c.799 others(83): Show c.799-3986_799-3921delGTGTATATATGTGTATATATTTGTGTGT GTATATGTGTATATATTTGTGTGTGTATATATGTGTGT	PTGFR	ENSG00000122420.10	transcript	ENST00000370757.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTP4A2_chr1_31901421_31943368	31908111	AAAATATA others(59): Show AAAATATATATATATATATATATATTATATTATATATATATATATATATA TATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02809.hp2 HG02486.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0140 a0001c0001t0029g0141 a0001c0001t0029g0140 a0001c0001t0029g0141	2	354	0.0057	-66	c.67 others(75): Show c.675_*740delATATATATATATATATATATATATATATATATATAT AATATAATATATATATATATATATATATTT	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	675		chr1	TogoVar
PTPRT_chr20_42067756_43194906	42509006	TATATAAT others(59): Show TATATAATTTATATTTAATTTATAGATATAAATTATATAATTTATATTTA ATTTATAGATATAAATC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG00741.hp1 others(7): Show HG00140.hp1 HG00738.hp1 HG00741.hp1 HG02622.hp1 HG02622.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp2 NA19030.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0002 a0001c0003 a0001c0021 others(7): Show a0001c0002 a0001c0003 a0001c0021 a0001c0031 a0002c0001 a0002c0004 a0002c0005 a0002c0013 a0008c0012 a0009c0017	a0001c0002t0003 a0001c0003t0004 a0001c0021t0001 others(7): Show a0001c0002t0003 a0001c0003t0004 a0001c0021t0001 a0001c0031t0001 a0002c0001t0010 a0002c0004t0010 a0002c0005t0012 a0002c0013t0001 a0008c0012t0005 a0009c0017t0017	a0001c0002t0003g0040 a0001c0003t0004g0041 a0001c0021t0001g0053 others(7): Show a0001c0002t0003g0040 a0001c0003t0004g0041 a0001c0021t0001g0053 a0001c0031t0001g0056 a0002c0001t0010g0024 a0002c0004t0010g0027 a0002c0005t0012g0010 a0002c0013t0001g0016 a0008c0012t0005g0017 a0009c0017t0017g0022	10	62	0.1613	-66	c.115 others(87): Show c.1154-36510_1154-36445delGATTTATATCTATAAATTAAATAT AAATTATATAATTTATATCTATAAATTAAATATAAATTATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42509072	CATATAAT others(59): Show CATATAATTTATATTTAATTTATAGATATAAATTATATAATTTATATTTA ATTTATAGATATAAATT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01261.hp1 HG01496.hp1 HG00438.hp2 HG01261.hp1 HG01496.hp1	a0002 a0002	a0002c0001 a0002c0004 a0002c0001 a0002c0004	a0002c0001t0003 a0002c0004t0002 a0002c0001t0003 a0002c0004t0002	a0002c0001t0003g0008 a0002c0004t0002g0001 a0002c0004t0002g0007 a0002c0001t0003g0008 a0002c0004t0002g0001 a0002c0004t0002g0007	3	62	0.0484	-66	c.115 others(87): Show c.1154-36576_1154-36511delAATTTATATCTATAAATTAAATAT AAATTATATAATTTATATCTATAAATTAAATATAAATTATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PUM1_chr1_30926506_31070717	30972260	AAAGAAAA others(59): Show AAAGAAAAGAAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp2 HG01358.hp2 others(8): Show HG01109.hp2 HG01123.hp2 HG01358.hp2 HG01943.hp2 HG02148.hp2 HG02300.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03704.hp2 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0051 a0001c0002t0001g0053 others(7): Show a0001c0002t0001g0001 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0087 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0247 a0001c0002t0001g0254 a0001c0002t0001g0258 a0001c0002t0001g0259	11	334	0.0329	-66	c.150 others(85): Show c.1506+2325_1506+2390delCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTTCCCTTCCCTTCCCTTCTTTTCTT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PVR_chr19_44638910_44671162	44668310	ATATTATT others(59): Show ATATTATTATATTTATATAATATGTTTATAATATATATAATATATTTATA TAATATGTTTATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0007 a0002c0002t0006g0007	1	412	0.0024	-66	c.65 others(77): Show c.6500_*6565delTATTATTATATTTATATAATATGTTTATAATATA TATAATATATTTATATAATATGTTTATATATT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		2149		chr19	TogoVar
PXMP2_chr12_132682587_132709985	132684103	CTGACTGG others(59): Show CTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCTCAT TCACAGAGAGCTACCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	350	0.0029	-66	c.-35 others(77): Show c.-3567_-3502delTGACTGGTTACTGTATCACACCGTCCCAGTACTC CACACAGGCTCTCATTCACAGAGAGCTACCAT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding		3483		chr12	TogoVar
PXMP2_chr12_132682587_132709985	132684506	ATATCACA others(59): Show ATATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTA CCATTGACTGGTTACTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 NA20129.hp1 HG02258.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0127 a0001c0001t0001g0015 a0001c0001t0001g0127	2	350	0.0057	-66	c.-31 others(77): Show c.-3164_-3099delTATCACACCGTCCCAGTACTCCACACAGGCTCTC ATTCACAGAGAGCTACCATTGACTGGTTACTG	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding		3080		chr12	TogoVar
PXMP2_chr12_132682587_132709985	132693344	CAGTTAGT others(59): Show CAGTTAGTTAGTGAGCACCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCC AGTTAGTGAGCTCCCTT	C C	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0157 a0001c0003t0003g0157	1	350	0.0029	-66	c.237 others(83): Show c.237-2524_237-2459delACCCTTGCCAGTTAGTTAGTGAGCTCCC TTAGCCAGTTAGTGAGCTCCCTTAGTTAGTTAGTGAGC	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP2_chr12_132682587_132709985	132694392	TAGTTAGT others(59): Show TAGTTAGTGAGCGCCCTTGCCAGTTAGTGAGCTCCCTTAGCCAGTTAGTT AGTGAGCTCCCTTAGCC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03139.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0002 a0001c0005t0005 a0001c0004t0002 a0001c0005t0005	a0001c0004t0002g0080 a0001c0005t0005g0070 a0001c0004t0002g0080 a0001c0005t0005g0070	2	350	0.0057	-66	c.237 others(83): Show c.237-1480_237-1415delGCCCTTGCCAGTTAGTGAGCTCCCTTAG CCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGC	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP2_chr12_132682587_132709985	132694419	TGAGCTCC others(59): Show TGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAG CTCCCTTAGCCAGTTAG	T T	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0157 a0001c0003t0003g0157	1	350	0.0029	-66	c.237 others(83): Show c.237-1464_237-1399delGAGCTCCCTTAGCCAGTTAGTTAGTGAG CTCCCTTAGCCAGTTAGTGAGCTCCCTTAGCCAGTTAG	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4			chr12	TogoVar
RABEP1_chr17_5277284_5391340	5282096	GCCGCGCT others(59): Show GCCGCGCTCCCTCCGCGCTCCCTCCGCGCTCCCTCCGCGCTCCCTCCGCG CTCCCTCCGCGCTCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0327 a0001c0003t0014g0327	1	352	0.0028	-66	c.-39 others(75): Show c.-390_-325delCCGCGCTCCCTCCGCGCTCCCTCCGCGCTCCCTCCG CGCTCCCTCCGCGCTCCCTCCGCGCTCCCT	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding		187		chr17	TogoVar
RABL6_chr9_136802948_136846187	136825448	GGGGAGGG others(59): Show GGGGAGGGAGGGGCCGTGCCCAGGATCGGGGCCCTGGAGGGAGGGGCCGT GCCCAGGATCGGGGCCC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp2 HG03579.hp2 HG02559.hp2 HG03139.hp2 HG03579.hp2	a0002 a0002	a0002c0004 a0002c0016 a0002c0004 a0002c0016	a0002c0004t0001 a0002c0016t0001 a0002c0004t0001 a0002c0016t0001	a0002c0004t0001g0114 a0002c0016t0001g0112 a0002c0016t0001g0113 a0002c0004t0001g0114 a0002c0016t0001g0112 a0002c0016t0001g0113	3	330	0.0091	-66	c.266 others(81): Show c.266-305_266-240delCGGGGCCCTGGAGGGAGGGGCCGTGCCCAG GATCGGGGCCCGGGAGGGAGGGGCCGTGCCCAGGAT	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
RASA3_chr13_113972783_114137623	114077421	CGATGCCC others(59): Show CGATGCCCAGTCCCCCCACACTGGCACCAACACACCGGATTCATCCCTTC CTCCCTCCCCACTCAAT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01993.hp1 HG01993.hp2 others(3): Show HG01361.hp2 HG01993.hp1 HG01993.hp2 HG02148.hp2 NA18954.hp2 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0003t0003g0020 others(3): Show a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0030	6	67	0.0896	-66	c.56- others(81): Show c.56-3650_56-3585delATTGAGTGGGGAGGGAGGAAGGGATGAATC CGGTGTGTTGGTGCCAGTGTGGGGGGACTGGGCATC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBFOX1_chr16_6014024_7718340	6256235	GTATATAT others(59): Show GTATATATATATGTATATATATGTGTATATATATATGTATATATATATGT GTGTATATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0003 a0001c0001t0043g0003	1	68	0.0147	-66	c.-12 others(87): Show c.-126-60738_-126-60673delGTGTATATATATATGTATATATAT ATGTGTGTATATATATATGTATATATATATATGTATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6779775	TTATATAT others(59): Show TTATATATATTTTTATATATACTTTTATATATTTATATATATATTTATAT ATATTTTTATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03098.hp1 HG03098.hp2 others(2): Show HG01192.hp1 HG03098.hp1 HG03098.hp2 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0043 a0001c0002t0038	a0001c0001t0003g0049 a0001c0001t0004g0040 a0001c0001t0009g0036 others(2): Show a0001c0001t0003g0049 a0001c0001t0004g0040 a0001c0001t0009g0036 a0001c0001t0043g0003 a0001c0002t0038g0023	5	68	0.0735	-66	c.-16 others(87): Show c.-16+125137_-16+125202delTTATATATACTTTTATATATTTAT ATATATATTTATATATATTTTTATATATTTATATATATATTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6859119	ATATATAT others(59): Show ATATATATATACATATATATACGTATATATATATGTATATATATACGTAT ATATATGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG02622.hp1 others(6): Show HG00140.hp1 HG00609.hp1 HG02622.hp1 HG02630.hp2 HG02738.hp1 HG02965.hp2 HG03195.hp2 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 a0001c0001t0022 a0001c0001t0027	a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0003g0041 others(6): Show a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0003g0041 a0001c0001t0004g0033 a0001c0001t0011g0035 a0001c0001t0014g0046 a0001c0001t0020g0002 a0001c0001t0022g0009 a0001c0001t0027g0042	9	68	0.1324	-66	c.-15 others(87): Show c.-15-192927_-15-192862delCATATATATACGTATATATATATG TATATATATACGTATATATATGTATATATATGTATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBM20_chr10_110639336_110844468	110747786	AAAGAGAA others(59): Show AAAGAGAAAGCCTTTTAGAAAGTTTTCTTTCTGAAAGAGAAAACTTTTTA GAAAGTTTTCTTTCTGC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19011.hp1 NA19060.hp2 others(2): Show HG02572.hp2 NA19011.hp1 NA19060.hp2 NA19082.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0003 a0002c0004t0001	a0001c0001t0001g0233 a0001c0001t0002g0155 a0001c0003t0001g0015 others(2): Show a0001c0001t0001g0233 a0001c0001t0002g0155 a0001c0003t0001g0015 a0002c0002t0003g0221 a0002c0004t0001g0032	5	268	0.0187	-66	c.192 others(85): Show c.192-32949_192-32884delCAAGAGAAAGCCTTTTAGAAAGTTTT CTTTCTGAAAGAGAAAACTTTTTAGAAAGTTTTCTTTCTG	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar

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