Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NOL4L_chr20_32438059_32590333	32471345	GGCTCAGA others(44): Show GGCTCAGAGGCAAGCTCCCGGGGAGTGAGAGCAGACACTCACCCCGGTAG AA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03225.hp2 HG02451.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0170 a0001c0001t0009g0121 a0001c0001t0006g0170 a0001c0001t0009g0121	2	194	0.0103	-51	c.841 others(68): Show c.841+3205_841+3255delTTCTACCGGGGTGAGTGTCTGCTCTCAC TCCCCGGGAGCTTGCCTCTGAGC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	5/10			chr20	TogoVar
NOTCH1_chr9_136489433_136551048	136535597	AGGGGCAA others(44): Show AGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTC CT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0064 a0001c0006t0004g0064	1	260	0.0038	-51	c.140 others(68): Show c.140+8376_140+8426delAGGAGGGATCCTGAGTGCTCCCCTCTCC ACCCACCCTGCACCCATTGCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOX4_chr11_89319353_89496375	89438816	TATTATAT others(44): Show TATTATATAATATCTTATATATTATATATATTATATAATATATTATATAT TA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG00639.hp2 others(51): Show HG00408.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01074.hp1 HG01106.hp2 HG01255.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01981.hp2 HG02015.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02300.hp1 HG02486.hp1 HG02572.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03669.hp2 HG03834.hp1 HG04199.hp1 HG04228.hp1 NA18941.hp2 NA18942.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18968.hp2 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA19003.hp2 NA19005.hp1 NA19030.hp1 NA19043.hp2 NA19070.hp1 NA19076.hp2 NA19077.hp2 NA19088.hp2 NA20752.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0022 a0001c0001t0029 a0001c0001t0064 a0001c0001t0071 a0001c0001t0081 a0001c0002t0011 a0001c0002t0012 a0001c0002t0024 a0001c0002t0028 a0001c0002t0034 a0001c0002t0035 a0001c0002t0069 a0001c0002t0084 a0001c0002t0086 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0010 a0001c0003t0013 a0001c0003t0019 a0001c0003t0021 a0001c0003t0037 a0001c0003t0073 a0001c0003t0074 a0001c0003t0079 a0001c0005t0043 a0001c0005t0070 a0001c0006t0022 a0001c0006t0030 a0006c0008t0013	a0001c0001t0001g0107 a0001c0001t0002g0260 a0001c0001t0003g0170 others(51): Show a0001c0001t0001g0107 a0001c0001t0002g0260 a0001c0001t0003g0170 a0001c0001t0003g0191 a0001c0001t0003g0205 a0001c0001t0018g0192 a0001c0001t0022g0210 a0001c0001t0029g0167 a0001c0001t0064g0088 a0001c0001t0071g0203 a0001c0001t0081g0218 a0001c0002t0011g0249 a0001c0002t0011g0263 a0001c0002t0012g0198 a0001c0002t0024g0046 a0001c0002t0028g0145 a0001c0002t0034g0285 a0001c0002t0035g0250 a0001c0002t0069g0209 a0001c0002t0084g0286 a0001c0002t0086g0276 a0001c0003t0003g0189 a0001c0003t0003g0193 a0001c0003t0003g0197 a0001c0003t0003g0201 a0001c0003t0003g0204 a0001c0003t0003g0212 a0001c0003t0003g0213 a0001c0003t0004g0037 a0001c0003t0004g0060 a0001c0003t0004g0071 a0001c0003t0004g0116 a0001c0003t0004g0117 a0001c0003t0004g0119 a0001c0003t0004g0120 a0001c0003t0005g0180 a0001c0003t0005g0190 a0001c0003t0005g0194 a0001c0003t0005g0206 a0001c0003t0005g0208 a0001c0003t0010g0084 a0001c0003t0013g0135 a0001c0003t0019g0118 a0001c0003t0019g0121 a0001c0003t0021g0202 a0001c0003t0037g0251 a0001c0003t0073g0195 a0001c0003t0074g0211 a0001c0003t0079g0196 a0001c0005t0043g0137 a0001c0005t0070g0214 a0001c0006t0022g0199 a0001c0006t0030g0200 a0006c0008t0013g0087	54	269	0.2007	-51	c.475 others(68): Show c.475+1821_475+1871delTAATATATAATATATTATATAATATATA TAATATATAAGATATTATATAAT	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	6/17			chr11	TogoVar
NPAS1_chr19_47014837_47050775	47048455	CGGACACT others(44): Show CGGACACTGGGGGCGGCGAAGCCCCGGCGCGGGGACCGTGGCCGGGGGCG AA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	416	0.0024	-51	c.28 others(62): Show c.2805_*2855delGGACACTGGGGGCGGCGAAGCCCCGGCGCGGGGA CCGTGGCCGGGGGCGAA	NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding		2681		chr19	TogoVar
NPHP3_chr3_132675609_132727409	132724978	CAGCCAAC others(44): Show CAGCCAACCTCTGCCCACATTTCTGGCCCACAAAATCATGAGATATAATA AA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	1	340	0.0029	-51	c.-26 others(62): Show c.-2674_-2624delTTTATTATATCTCATGATTTTGTGGGCCAGAAAT GTGGGCAGAGGTTGGCT	NPHP3	ENSG00000113971.21	transcript	ENST00000337331.10	protein_coding		2570		chr3	TogoVar
NTM_chr11_131365615_132341822	131598848	TCTTCCTT others(44): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTCCTTCCTTCCTTCCTTCCT TC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG03098.hp1 others(3): Show HG02055.hp2 HG02145.hp2 HG03098.hp1 HG03130.hp1 HG06807.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0004t0003	a0001c0001t0001g0060 a0001c0001t0001g0083 a0001c0001t0007g0059 others(3): Show a0001c0001t0001g0060 a0001c0001t0001g0083 a0001c0001t0007g0059 a0001c0001t0008g0045 a0001c0001t0009g0050 a0001c0004t0003g0054	6	56	0.1071	-51	c.82+ others(70): Show c.82+227985_82+228035delCTTCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	132239979	CCATCCAT others(44): Show CCATCCATCATCCATCCATCCATTCATCCATCCAACCACCCATCCATCCA TT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0019 a0001c0001t0010g0019	1	86	0.0116	-51	c.526 others(70): Show c.526+27845_526+27895delATCCATCCATTCATCCATCCAACCAC CCATCCATCCATTCATCCATCATCC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTSR1_chr20_62703836_62767771	62767631	AGAAAGAA others(44): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGTTGAAGGAAGGA AG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0236 a0001c0003t0012g0236	1	314	0.0032	-51	c.73 others(62): Show c.7365_*7415delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AGGTTGAAGGAAGGAAG	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		4861		chr20	TogoVar
NUAK2_chr1_205297063_205326745	205324392	ACTGCGCC others(44): Show ACTGCGCCCGGCTCAGATTTTCTTTAAGATATGTATCCCAGGTGGGAGGA GG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0014 a0001c0001t0008g0014	1	382	0.0026	-51	c.-28 others(62): Show c.-2815_-2765delCCTCCTCCCACCTGGGATACATATCTTAAAGAAA ATCTGAGCCGGGCGCAG	NUAK2	ENSG00000163545.11	transcript	ENST00000367157.6	protein_coding		2648		chr1	TogoVar
NUP155_chr5_37283137_37376106	37315535	AGATGCCA others(44): Show AGATGCCATTCCATGTTCATTAGGATGGCTATATATAAAAGGACAGAAAA AT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp1 HG02897.hp2 others(5): Show HG02145.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03139.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0005 a0001c0018 a0001c0005 a0001c0018	a0001c0005t0009 a0001c0018t0015 a0001c0005t0009 a0001c0018t0015	a0001c0005t0009g0054 a0001c0005t0009g0057 a0001c0005t0009g0058 others(5): Show a0001c0005t0009g0054 a0001c0005t0009g0057 a0001c0005t0009g0058 a0001c0005t0009g0061 a0001c0005t0009g0062 a0001c0005t0009g0063 a0001c0005t0009g0064 a0001c0018t0015g0050	8	298	0.0268	-51	c.230 others(70): Show c.2306-1258_2306-1208delATTTTTCTGTCCTTTTATATATAGCC ATCCTAATGAACATGGAATGGCATC	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	21/34			chr5	TogoVar
NWD1_chr19_16714847_16822953	16735815	AAGGAAGG others(44): Show AAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00639.hp2 others(13): Show HG00280.hp1 HG00323.hp1 HG00639.hp2 HG00733.hp2 HG01167.hp2 HG01496.hp2 HG02258.hp1 HG02698.hp1 HG02735.hp2 HG02886.hp2 HG03239.hp1 HG03654.hp2 HG03710.hp2 HG04184.hp1 NA18906.hp2 NA20752.hp2	a0003 a0004 a0005 others(3): Show a0003 a0004 a0005 a0031 a0038 a0044	a0003c0003 a0003c0006 a0004c0005 others(5): Show a0003c0003 a0003c0006 a0004c0005 a0004c0009 a0005c0004 a0031c0056 a0038c0052 a0044c0061	a0003c0003t0003 a0003c0006t0001 a0004c0005t0018 others(7): Show a0003c0003t0003 a0003c0006t0001 a0004c0005t0018 a0004c0009t0008 a0005c0004t0002 a0005c0004t0003 a0005c0004t0021 a0031c0056t0001 a0038c0052t0001 a0044c0061t0003	a0003c0003t0003g0288 a0003c0006t0001g0281 a0003c0006t0001g0282 others(13): Show a0003c0003t0003g0288 a0003c0006t0001g0281 a0003c0006t0001g0282 a0004c0005t0018g0256 a0004c0009t0008g0286 a0005c0004t0002g0039 a0005c0004t0003g0248 a0005c0004t0003g0266 a0005c0004t0003g0272 a0005c0004t0003g0273 a0005c0004t0003g0280 a0005c0004t0003g0284 a0005c0004t0021g0277 a0031c0056t0001g0279 a0038c0052t0001g0254 a0044c0061t0003g0285	16	298	0.0537	-51	c.82- others(64): Show c.82-805_82-755delAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAGGAAGGAAGGAA	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NXF2_chrX_102242167_102331722	102274532	CTTCCTCT others(44): Show CTTCCTCTTCCTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	34	0.0294	-51	c.-54 others(70): Show c.-54+25975_-54+26025delTTCCTCTTCCTCTTCTTCCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTT	NXF2	ENSG00000269405.7	transcript	ENST00000625106.4	protein_coding	2/22			chrX	TogoVar
NXF2_chrX_102242167_102331722	102274550	CCTTCTTC others(44): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	28	0.0357	-51	c.-54 others(70): Show c.-54+26029_-54+26079delCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTT	NXF2	ENSG00000269405.7	transcript	ENST00000625106.4	protein_coding	2/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
OGFOD3_chr17_82384210_82423586	82388792	ACCCTCCC others(44): Show ACCCTCCCCGGAACCCCTCCCCGGAACCCTCCCCGGAACCCCTCCCCGGA GC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp2 others(85): Show HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG02523.hp1 HG02602.hp2 HG02922.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp2 HG03704.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18970.hp1 NA18974.hp1 NA18980.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18995.hp2 NA19004.hp2 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19089.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0002c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0017 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0017 a0001c0002t0020 a0001c0002t0021 a0001c0002t0023 a0001c0013t0001 a0002c0007t0034	a0001c0001t0001g0144 a0001c0001t0001g0164 a0001c0001t0001g0209 others(68): Show a0001c0001t0001g0144 a0001c0001t0001g0164 a0001c0001t0001g0209 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0064 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0074 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0111 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0132 a0001c0002t0001g0147 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0184 a0001c0002t0001g0265 a0001c0002t0001g0292 a0001c0002t0017g0112 a0001c0002t0020g0154 a0001c0002t0021g0131 a0001c0002t0023g0149 a0001c0013t0001g0106 a0002c0007t0034g0139	88	346	0.2543	-51	c.35 others(62): Show c.3555_*3605delGCTCCGGGGAGGGGTTCCGGGGAGGGTTCCGGGG AGGGGTTCCGGGGAGGG	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding		417		chr17	TogoVar
OLFM1_chr9_135082668_135126180	135124528	GAAGGAAA others(44): Show GAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGGGCAGGGGAAGGGAAGA AA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02922.hp2 HG02451.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0012 a0001c0003t0002 a0001c0001t0012 a0001c0003t0002	a0001c0001t0012g0186 a0001c0003t0002g0324 a0001c0001t0012g0186 a0001c0003t0002g0324	2	333	0.0060	-51	c.43 others(62): Show c.4351_*4401delAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGGG CAGGGGAAGGGAAGAAA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3349		chr9	TogoVar
OPCML_chr11_132409981_133537501	133140835	AGAAGACG others(44): Show AGAAGACGACGACGACGACGAAGAAGACGACGACGACGAAGAAGACGACG AC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01258.hp1 HG01884.hp1 others(2): Show HG01109.hp1 HG01258.hp1 HG01884.hp1 HG02976.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0016 a0001c0001t0023	a0001c0001t0003g0031 a0001c0001t0005g0020 a0001c0001t0011g0057 others(2): Show a0001c0001t0003g0031 a0001c0001t0005g0020 a0001c0001t0011g0057 a0001c0001t0016g0012 a0001c0001t0023g0039	5	42	0.1190	-51	c.62- others(70): Show c.62-197876_62-197826delGTCGTCGTCTTCTTCGTCGTCGTCGT CTTCTTCGTCGTCGTCGTCGTCTTC	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133140997	AGACGACG others(44): Show AGACGACGACGACGACGACGACGACGACGACGACGACGACGACGACGACG AC	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01884.hp1 HG03209.hp2 others(4): Show HG01071.hp2 HG01884.hp1 HG03209.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0014	a0001c0001t0001g0028 a0001c0001t0002g0002 a0001c0001t0002g0022 others(4): Show a0001c0001t0001g0028 a0001c0001t0002g0002 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0003g0031 a0001c0001t0010g0061 a0001c0001t0014g0017	7	59	0.1186	-51	c.62- others(70): Show c.62-198038_62-197988delGTCGTCGTCGTCGTCGTCGTCGTCGT CGTCGTCGTCGTCGTCGTCGTCGTC	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPTN_chr10_13095163_13143308	13139818	AGTATGTC others(44): Show AGTATGTCTTATTTGGCAGTTTGTCCCCTTCTGCACTGTGAATATATTAT GT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	416	0.0024	-51	c.29 others(62): Show c.2953_*3003delGTATGTCTTATTTGGCAGTTTGTCCCCTTCTGCA CTGTGAATATATTATGT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding		1511		chr10	TogoVar
OR2A12_chr7_144081278_144103953	144085769	GGCTGGTC others(44): Show GGCTGGTCTTGAACTCCTGACCTTGTGATCCCCTGCCTTGGCCTCCCAAA GT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	388	0.0026	-51	c.-82 others(60): Show c.-825_-775delGCTGGTCTTGAACTCCTGACCTTGTGATCCCCTGCC TTGGCCTCCCAAAGT	OR2A12	ENSG00000221858.3	transcript	ENST00000641592.1	protein_coding		508		chr7	TogoVar
OR2AG1_chr11_6778020_6796558	6779180	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT TT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0073 a0011c0015t0073	a0011c0015t0073g0001 a0011c0015t0073g0001	1	466	0.0021	-51	c.-43 others(62): Show c.-4311_-4261delTATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTT	OR2AG1	ENSG00000279486.6	transcript	ENST00000641258.1	protein_coding		3839		chr11	TogoVar
OR4F5_chr1_60419_76585	66224	TATTATAT others(44): Show TATTATATAATATATATTATATTATATAATATATAATATAAATATAATAT AA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01515.hp1 HG01106.hp1 HG01515.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0004 a0004c0003t0002g0004	2	214	0.0093	-51	c.9+6 others(62): Show c.9+659_9+709delAATATATATTATATTATATAATATATAATATAAA TATAATATAAATTATAT	OR4F5	ENSG00000186092.7	transcript	ENST00000641515.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR56A4_chr11_5994445_6011946	6000543	ACATGGCA others(44): Show ACATGGCACATGTATACATATGTAACAAACCTGCACATTGTGCACATGTA CT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0144 a0001c0001t0031g0144	1	438	0.0023	-51	c.14 others(62): Show c.1457_*1507delAGTACATGTGCACAATGTGCAGGTTTGTTACATA TGTATACATGTGCCATG	OR56A4	ENSG00000183389.5	transcript	ENST00000641156.1	protein_coding	3/3	1457		chr11	TogoVar
OR8G1_chr11_124236095_124259364	124256247	CCAACAGT others(44): Show CCAACAGTAATTGCTTCTTTTCTCAGGAGCTTGTGTTCCCAGAGAAATGG AA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0006 a0002c0001t0001g0006	1	428	0.0023	-51	c.56 others(62): Show c.5637_*5687delCAACAGTAATTGCTTCTTTTCTCAGGAGCTTGTG TTCCCAGAGAAATGGAA	OR8G1	ENSG00000197849.7	transcript	ENST00000641972.1	protein_coding		1884		chr11	TogoVar
OR8G5_chr11_124251376_124271224	124256247	CCAACAGT others(44): Show CCAACAGTAATTGCTTCTTTTCTCAGGAGCTTGTGTTCCCAGAGAAATGG AA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	430	0.0023	-51	c.-40 others(60): Show c.-401_-351delCAACAGTAATTGCTTCTTTTCTCAGGAGCTTGTGTT CCCAGAGAAATGGAA	OR8G5	ENSG00000255298.5	transcript	ENST00000641992.2	protein_coding		128		chr11	TogoVar
OSBPL10_chr3_31655825_31986262	31898904	ATATTCAA others(44): Show ATATTCAACTGGGTTTGGGAGAAAGTTTAAGACAGTTAACTTTAAACCTT TT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0168 a0001c0009t0005g0168	1	176	0.0057	-51	c.282 others(70): Show c.282-19125_282-19075delAAAAGGTTTAAAGTTAACTGTCTTAA ACTTTCTCCCAAACCCAGTTGAATA	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	1/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31965525	TTATATTA others(44): Show TTATATTATATAAATTATATATTATATATTATATAAATTATATATTATAT AA	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02895.hp2 HG03453.hp1 others(1): Show HG02015.hp2 HG02895.hp2 HG03453.hp1 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 others(1): Show a0001c0001 a0001c0006 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0006t0002 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0006t0002 a0002c0003t0001 a0002c0005t0002	a0001c0001t0001g0018 a0001c0006t0002g0017 a0002c0003t0001g0119 others(1): Show a0001c0001t0001g0018 a0001c0006t0002g0017 a0002c0003t0001g0119 a0002c0005t0002g0123	4	126	0.0317	-51	c.281 others(70): Show c.281+15323_281+15373delTTATATAATATATAATTTATATAATA TATAATATATAATTTATATAATATA	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	1/11			chr3	TogoVar
OVOL3_chr19_36106143_36118711	36108517	TTTTGCAG others(44): Show TTTTGCAGATGACCCACCTGAGGCCTGGATGTTTGCCCAGAGGAGGGATT CC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01884.hp1 HG02257.hp1 others(7): Show HG01256.hp2 HG01884.hp1 HG02257.hp1 HG02809.hp2 HG02965.hp1 HG03209.hp2 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0003 a0001c0004t0001g0002 a0001c0004t0001g0007 a0001c0001t0001g0003 a0001c0004t0001g0002 a0001c0004t0001g0007	10	448	0.0223	-51	c.-26 others(62): Show c.-2685_-2635delTTTGCAGATGACCCACCTGAGGCCTGGATGTTTG CCCAGAGGAGGGATTCC	OVOL3	ENSG00000105261.8	transcript	ENST00000633214.2	protein_coding		2625		chr19	TogoVar
PAAF1_chr11_73871999_73936114	73896900	GGACGGGG others(44): Show GGACGGGGCGGCTGGCCGGACGGGGGGGCTGACCCCCCAGACCTCCCTCC CC	G G	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	342	0.0029	-51	c.283 others(68): Show c.283-2227_283-2177delACGGGGGGGCTGACCCCCCAGACCTCCC TCCCCGACGGGGCGGCTGGCCGG	PAAF1	ENSG00000175575.13	transcript	ENST00000310571.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172366	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT TT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0019 a0001c0001t0076g0019	1	423	0.0024	-51	c.46 others(62): Show c.4668_*4718delTATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1322		chr11	TogoVar
PALMD_chr1_99641113_99699535	99683040	GAAAGAAA others(44): Show GAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	G G	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	378	0.0026	-51	c.252 others(68): Show c.252-3633_252-3583delAGAAAGAAAGAAAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAN3_chr13_28133545_28300335	28257727	ATTATATA others(44): Show ATTATATATAAATTATATATAATATATAATTAATTATATATTATATATAA AT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03942.hp2 HG03831.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0182 a0001c0001t0007g0180 a0001c0001t0005g0182 a0001c0001t0007g0180	2	250	0.0080	-51	c.124 others(70): Show c.1248+1190_1248+1240delTATATATAAATTATATATAATATATA ATTAATTATATATTATATATAAATT	PAN3	ENSG00000152520.14	transcript	ENST00000380958.8	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
PANK1_chr10_89577988_89650242	89581069	ATGGTGGA others(44): Show ATGGTGGATCTTTGTTCTGTTTACTGCTGTGAATGTGAATGAATAAATGA TT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03195.hp1 HG02976.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0200 a0001c0001t0001g0201	2	364	0.0055	-51	c.32 others(62): Show c.3286_*3336delAATCATTTATTCATTCACATTCACAGCAGTAAAC AGAACAAAGATCCACCA	PANK1	ENSG00000152782.19	transcript	ENST00000307534.10	protein_coding		1918		chr10	TogoVar
PAPPA_chr9_116148791_116407321	116289135	TATATATA others(44): Show TATATATATATATATATATATATATAGCATATATATATAGCATATATGTA GC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0161 a0001c0001t0012g0161	1	229	0.0044	-51	c.295 others(72): Show c.2954-13612_2954-13562delTATATATATATATATAGCATATAT ATATAGCATATATGTAGCATATATATA	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAPSS1_chr4_107608666_107725234	107721701	TGCTGCTG others(44): Show TGCTGCTGCCTGTTAGTGACTAGCAAATCAGCCCCCATCACCAAGACCTG AG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	274	0.0036	-51	c.-15 others(62): Show c.-1573_-1523delCTCAGGTCTTGGTGATGGGGGCTGATTTGCTAGT CACTAACAGGCAGCAGC	PAPSS1	ENSG00000138801.9	transcript	ENST00000265174.5	protein_coding		1468		chr4	TogoVar
PAQR5_chr15_69293912_69412780	69355337	TTTCTTTT others(44): Show TTTCTTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0192 a0001c0001t0006g0192	1	282	0.0035	-51	c.-11 others(70): Show c.-115-4627_-115-4577delTCTTTTTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARP12_chr7_140018749_140067951	140035996	GAGGAGAA others(44): Show GAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGA GA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0179 a0001c0003t0003g0179	1	195	0.0051	-51	c.132 others(70): Show c.1324+1668_1325-1666delTCTCCTCCTTCTCCTCCTTCTCCTCC TTCTCCTCCTTCTCCTCCTTCTCCT	PARP12	ENSG00000059378.13	transcript	ENST00000263549.8	protein_coding	7/11			chr7	TogoVar
PARP1_chr1_226355691_226413093	226356303	TATTCAAA others(44): Show TATTCAAATCTAAAAAGCCCAGCCTGGTCCCTGGGTGAGTACCACATGGC TA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01167.hp1 HG01261.hp2 others(17): Show HG01106.hp2 HG01167.hp1 HG01261.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 NA20129.hp2 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0013 a0001c0001 a0001c0002 a0007c0013	a0001c0001t0006 a0001c0002t0001 a0007c0013t0001 a0001c0001t0006 a0001c0002t0001 a0007c0013t0001	a0001c0001t0006g0045 a0001c0001t0006g0178 a0001c0001t0006g0184 others(10): Show a0001c0001t0006g0045 a0001c0001t0006g0178 a0001c0001t0006g0184 a0001c0002t0001g0009 a0001c0002t0001g0031 a0001c0002t0001g0036 a0001c0002t0001g0097 a0001c0002t0001g0129 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0139 a0007c0013t0001g0134	20	356	0.0562	-51	c.51 others(62): Show c.5106_*5156delTAGCCATGTGGTACTCACCCAGGGACCAGGCTGG GCTTTTTAGATTTGAAT	PARP1	ENSG00000143799.14	transcript	ENST00000366794.10	protein_coding		4387		chr1	TogoVar
PATJ_chr1_61737480_62168915	62123776	CAAATGTG others(44): Show CAAATGTGCTATAAGTTTCTTAACCAGTTTCCTATTATTGAACAATTAGC AT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01109.hp1 others(38): Show HG00639.hp1 HG00735.hp2 HG01109.hp1 HG01192.hp1 HG01243.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01978.hp1 HG02040.hp2 HG02109.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02809.hp1 HG02895.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03471.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp1 NA18983.hp1 NA18983.hp2 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19030.hp1 NA19056.hp2 NA19060.hp1	a0001 a0002 a0004 others(20): Show a0001 a0002 a0004 a0005 a0007 a0010 a0011 a0012 a0013 a0018 a0019 a0023 a0024 a0025 a0034 a0037 a0038 a0039 a0041 a0046 a0050 a0055 a0061	a0001c0092 a0002c0029 a0002c0061 others(33): Show a0001c0092 a0002c0029 a0002c0061 a0004c0011 a0004c0045 a0004c0056 a0004c0091 a0005c0123 a0007c0006 a0007c0013 a0007c0031 a0007c0050 a0010c0125 a0011c0084 a0012c0005 a0012c0023 a0012c0025 a0013c0004 a0013c0062 a0018c0112 a0018c0118 a0019c0043 a0019c0076 a0023c0082 a0024c0039 a0024c0064 a0025c0115 a0034c0109 a0037c0130 a0038c0087 a0039c0108 a0041c0060 a0046c0035 a0050c0085 a0055c0066 a0061c0053	a0001c0092t0003 a0002c0029t0002 a0002c0061t0003 others(35): Show a0001c0092t0003 a0002c0029t0002 a0002c0061t0003 a0004c0011t0002 a0004c0045t0003 a0004c0056t0003 a0004c0091t0002 a0005c0123t0002 a0007c0006t0002 a0007c0013t0002 a0007c0013t0014 a0007c0031t0014 a0007c0050t0021 a0010c0125t0002 a0011c0084t0003 a0012c0005t0002 a0012c0005t0012 a0012c0023t0007 a0012c0025t0002 a0013c0004t0002 a0013c0062t0002 a0018c0112t0002 a0018c0118t0001 a0019c0043t0002 a0019c0076t0002 a0023c0082t0002 a0024c0039t0003 a0024c0064t0002 a0025c0115t0002 a0034c0109t0002 a0037c0130t0002 a0038c0087t0007 a0039c0108t0002 a0041c0060t0002 a0046c0035t0009 a0050c0085t0007 a0055c0066t0002 a0061c0053t0003	a0001c0092t0003g0158 a0002c0029t0002g0132 a0002c0061t0003g0099 others(38): Show a0001c0092t0003g0158 a0002c0029t0002g0132 a0002c0061t0003g0099 a0004c0011t0002g0011 a0004c0011t0002g0152 a0004c0045t0003g0038 a0004c0056t0003g0117 a0004c0091t0002g0110 a0005c0123t0002g0018 a0007c0006t0002g0036 a0007c0006t0002g0097 a0007c0013t0002g0061 a0007c0013t0014g0156 a0007c0031t0014g0079 a0007c0050t0021g0039 a0010c0125t0002g0002 a0011c0084t0003g0088 a0012c0005t0002g0121 a0012c0005t0012g0064 a0012c0023t0007g0024 a0012c0025t0002g0140 a0013c0004t0002g0072 a0013c0004t0002g0075 a0013c0062t0002g0059 a0018c0112t0002g0007 a0018c0118t0001g0022 a0019c0043t0002g0040 a0019c0076t0002g0101 a0023c0082t0002g0090 a0024c0039t0003g0066 a0024c0064t0002g0142 a0025c0115t0002g0008 a0034c0109t0002g0125 a0037c0130t0002g0109 a0038c0087t0007g0027 a0039c0108t0002g0124 a0041c0060t0002g0120 a0046c0035t0009g0077 a0050c0085t0007g0042 a0055c0066t0002g0123 a0061c0053t0003g0111	41	156	0.2628	-51	c.504 others(68): Show c.5043+720_5043+770delAATGTGCTATAAGTTTCTTAACCAGTTT CCTATTATTGAACAATTAGCATA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	39/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAWR_chr12_79579879_79695964	79613949	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT TT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19240.hp2 HG02922.hp2 NA19240.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0163 a0003c0005t0007g0164 a0003c0005t0007g0163 a0003c0005t0007g0164	2	252	0.0079	-51	c.649 others(66): Show c.649-391_649-341delAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAX2_chr10_100740582_100834944	100807391	CTCCCTCA others(44): Show CTCCCTCACCCACAGCCCACGGTACTGTGCTCACACACCACCGCCCACCT GT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19068.hp1 HG02155.hp1 NA19068.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0067 a0001c0003t0003g0076 a0001c0003t0003g0067 a0001c0003t0003g0076	2	230	0.0087	-51	c.792 others(66): Show c.792+827_792+877delCGCCCACCTGTTCCCTCACCCACAGCCCAC GGTACTGTGCTCACACACCAC	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PBX3_chr9_125742373_125972377	125780417	CCCCCCCC others(44): Show CCCCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCT GA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG03225.hp1 others(1): Show HG01884.hp1 HG02486.hp2 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0005g0009 others(1): Show a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0010	4	292	0.0137	-51	c.274 others(70): Show c.274+31803_274+31853delCACCTCCCTCCCAGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCC	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCBP3_chr21_45638725_45947450	45738867	AGCCCCCC others(44): Show AGCCCCCCTATCTTCATCAGCCCACCCCTTCCTGTCCACGATCCTCTGGG TG	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0285 a0001c0001t0005g0285	1	290	0.0034	-51	c.-16 others(70): Show c.-162+3446_-162+3496delTATCTTCATCAGCCCACCCCTTCCTG TCCACGATCCTCTGGGTGGCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45739593	CCCATCTT others(44): Show CCCATCTTCATCAGCCCACCCCTTCCTGTCCATTGTCCTCTGGGTGGCCC CT	C C	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0269	1	239	0.0042	-51	c.-16 others(70): Show c.-162+4167_-162+4217delATCTTCATCAGCCCACCCCTTCCTGT CCATTGTCCTCTGGGTGGCCCCTCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCGF3_chr4_700832_775089	736620	CCCTGAGC others(44): Show CCCTGAGCACACAGGATGCAGGGAACCCGTGGTGTCCACAGGGACGGTGT CT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0010 a0001c0001t0060g0010	1	364	0.0027	-51	c.207 others(66): Show c.207-838_207-788delACACAGGATGCAGGGAACCCGTGGTGTCCA CAGGGACGGTGTCTCCTGAGC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	736850	GCGGTGTC others(44): Show GCGGTGTCCCCTGAGCGCACGGGACGCGGGGAACCTGGGGTGTCTGCAGG GA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(84): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00544.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01517.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02523.hp1 HG02559.hp2 HG02630.hp1 HG02735.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03130.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18951.hp1 NA18954.hp1 NA18962.hp1 NA18963.hp1 NA18967.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19003.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19074.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0021 a0001c0001t0039 a0001c0001t0041 a0001c0003t0005 a0001c0003t0010 a0001c0004t0020 a0002c0002t0001 a0002c0002t0007 a0002c0002t0013 a0002c0002t0018 a0002c0002t0037 a0002c0002t0043	a0001c0001t0001g0003 a0001c0001t0001g0193 a0001c0001t0001g0198 others(81): Show a0001c0001t0001g0003 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0003g0196 a0001c0001t0003g0305 a0001c0001t0004g0121 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0007g0122 a0001c0001t0007g0226 a0001c0001t0007g0295 a0001c0001t0007g0298 a0001c0001t0007g0299 a0001c0001t0007g0301 a0001c0001t0007g0304 a0001c0001t0007g0311 a0001c0001t0007g0360 a0001c0001t0008g0251 a0001c0001t0021g0220 a0001c0001t0039g0003 a0001c0001t0041g0204 a0001c0003t0005g0002 a0001c0003t0005g0303 a0001c0003t0005g0307 a0001c0003t0010g0306 a0001c0003t0010g0308 a0001c0003t0010g0309 a0001c0004t0020g0120 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0202 a0002c0002t0001g0210 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0249 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0007g0296 a0002c0002t0007g0300 a0002c0002t0007g0310 a0002c0002t0013g0297 a0002c0002t0018g0230 a0002c0002t0037g0315 a0002c0002t0043g0302	87	113	0.7699	-51	c.207 others(66): Show c.207-335_207-285delCGGGGAACCTGGGGTGTCTGCAGGGACGGT GTCCCCTGAGCGCACGGGACG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCSK1N_chrX_48826096_48840610	48837550	TCCCCACC others(44): Show TCCCCACCATGCCCAGCTAATTTTTGCATTTTTCTGTAGAGATGGGTTTC AC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	312	0.0032	-51	c.-20 others(62): Show c.-2069_-2019delGTGAAACCCATCTCTACAGAAAAATGCAAAAATT AGCTGGGCATGGTGGGG	PCSK1N	ENSG00000102109.9	transcript	ENST00000218230.6	protein_coding		1941		chrX	TogoVar
PCSK5_chr9_75885673_76367975	76064483	TGGGGCGG others(44): Show TGGGGCGGCTGGCCGGGCGGGGGGCTGAACCCCCCCAACCTCCCTCCCGG AC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0014 a0014	a0014c0032 a0014c0032	a0014c0032t0009 a0014c0032t0009	a0014c0032t0009g0132 a0014c0032t0009g0132	1	164	0.0061	-51	c.633 others(68): Show c.633-3467_633-3417delCGGCTGGCCGGGCGGGGGGCTGAACCCC CCCAACCTCCCTCCCGGACGGGG	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101311886	CCCCTCAC others(44): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	310	0.0032	-51	c.269 others(70): Show c.2699+1439_2699+1489delTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311937	ACCCTCAC others(44): Show ACCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGTC AC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0291 a0001c0001t0009g0291	1	327	0.0031	-51	c.269 others(70): Show c.2699+1388_2699+1438delGTGACGATGGGGTGGGCTGTGAGGGT GTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312038	CCCCTCAC others(44): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG02970.hp2 others(2): Show HG01891.hp1 HG02257.hp2 HG02970.hp2 HG03139.hp2 NA19240.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0013	a0001c0006 a0002c0008 a0006c0021 others(2): Show a0001c0006 a0002c0008 a0006c0021 a0006c0029 a0013c0043	a0001c0006t0002 a0002c0008t0002 a0006c0021t0002 others(2): Show a0001c0006t0002 a0002c0008t0002 a0006c0021t0002 a0006c0029t0001 a0013c0043t0009	a0001c0006t0002g0038 a0002c0008t0002g0027 a0006c0021t0002g0004 others(2): Show a0001c0006t0002g0038 a0002c0008t0002g0027 a0006c0021t0002g0004 a0006c0029t0001g0006 a0013c0043t0009g0036	5	332	0.0151	-51	c.269 others(70): Show c.2699+1287_2699+1337delTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar

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