Joint Open Genome and Omics Platform (JoGo)

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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
NR3C2_chr4_148073764_148447414	148186986	GTGTATGT others(43): Show GTGTATGTATGTATATATATATATATATATATATATATATATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	36	0.0278	-50	c.201 others(69): Show c.2014+7710_2014+7759delTATATATATATATATATATATATATA TATATATATATATACATACATACA	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	4/8			chr4	TogoVar
NR5A2_chr1_200022710_200182415	200113188	TATATGTT others(43): Show TATATGTTTCCTGCAGCCTGGATTCTTCCAGCTCCCCTCCCCACTCTTTA A	T T	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	284	0.0035	-50	c.123 others(69): Show c.1230+1911_1230+1960delTCTTTAAATATGTTTCCTGCAGCCTG GATTCTTCCAGCTCCCCTCCCCAC	NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
NRBF2_chr10_63128328_63160024	63135758	TGCCTCAG others(43): Show TGCCTCAGCCTTCTGAGTAGCTGGGATTTCAGGCACGCGCCGCCACGCCC A	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	390	0.0026	-50	c.30+ others(65): Show c.30+2261_30+2310delCTCAGCCTTCTGAGTAGCTGGGATTTCAGG CACGCGCCGCCACGCCCAGC	NRBF2	ENSG00000148572.16	transcript	ENST00000277746.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRIP1_chr21_14956235_15070000	15031053	TACATTCC others(43): Show TACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGATCAC C	T T	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0116 a0001c0001t0007g0116	1	164	0.0061	-50	c.-45 others(71): Show c.-458+12392_-458+12441delGGTGATCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031193	AGAGGTTC others(43): Show AGAGGTTCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGGTT G	A A	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18963.hp2 NA18984.hp2 others(3): Show NA18940.hp2 NA18963.hp2 NA18984.hp2 NA18989.hp2 NA19009.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 others(3): Show a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0351	6	358	0.0168	-50	c.-45 others(71): Show c.-458+12252_-458+12301delCAACCACCTTCCAGAGTGTATACA CATAGAAAGGGAATGTGGTGAACCTC	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031238	TGGTTGGA others(43): Show TGGTTGGAGGTTCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGG C	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00609.hp1 others(43): Show HG00408.hp1 HG00438.hp2 HG00609.hp1 HG00673.hp1 HG00741.hp1 HG01175.hp1 HG02129.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02293.hp2 HG02602.hp2 HG03942.hp2 HG04199.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18953.hp2 NA18956.hp2 NA18960.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18983.hp2 NA18988.hp2 NA18990.hp1 NA18994.hp2 NA19002.hp2 NA19011.hp2 NA19054.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19076.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0002 a0001c0011 others(2): Show a0001c0001 a0001c0002 a0001c0011 a0002c0003 a0014c0020	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0002t0006 a0001c0011t0022 a0002c0003t0003 a0002c0003t0045 a0014c0020t0002	a0001c0001t0001g0058 a0001c0001t0001g0090 a0001c0001t0004g0001 others(40): Show a0001c0001t0001g0058 a0001c0001t0001g0090 a0001c0001t0004g0001 a0001c0001t0004g0081 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0088 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0111 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0132 a0001c0001t0004g0359 a0001c0001t0007g0005 a0001c0001t0007g0113 a0001c0001t0007g0116 a0001c0001t0007g0117 a0001c0001t0007g0118 a0001c0001t0007g0119 a0001c0001t0007g0120 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0156 a0001c0001t0007g0157 a0001c0001t0032g0087 a0001c0001t0033g0121 a0001c0001t0034g0094 a0001c0002t0006g0029 a0001c0011t0022g0101 a0001c0011t0022g0103 a0002c0003t0003g0079 a0002c0003t0045g0114 a0014c0020t0002g0102	46	312	0.1474	-50	c.-45 others(71): Show c.-458+12207_-458+12256delGCCTTCCAGAGTGTATACACATAG AAAGGGAATGTGGTGAACCTCCAACC	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP3_chr11_8975576_9009001	8978674	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG02630.hp1 others(1): Show HG00140.hp2 HG00323.hp1 HG02630.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0029 others(1): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0029 a0001c0001t0055	a0001c0001t0001g0222 a0001c0001t0018g0162 a0001c0001t0029g0254 others(1): Show a0001c0001t0001g0222 a0001c0001t0018g0162 a0001c0001t0029g0254 a0001c0001t0055g0155	4	401	0.0100	-50	c.48 others(61): Show c.4821_*4870delCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCC	NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding		1901		chr11	TogoVar
NRXN2_chr11_64601174_64728197	64701887	TGTCCGGG others(43): Show TGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC C	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	306	0.0033	-50	c.731 others(67): Show c.731-4145_731-4096delGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGAC	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NRXN3_chr14_78165373_79873291	78314876	CCGTTCTT others(43): Show CCGTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT T	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	22	0.0455	-50	c.757 others(69): Show c.757+17018_757+17067delGTTCTTTCTTTCTTTCTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTC	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSDHL_chrX_152826063_152874729	152872646	GTGTTTGT others(43): Show GTGTTTGTGGGTGTGCGGGTGTGTGTGTGGGTGGGTGTGGGTGTGTGTGT T	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG03540.hp2 HG03669.hp2 others(2): Show HG00558.hp2 HG03540.hp2 HG03669.hp2 HG03710.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0081 a0001c0001t0001g0168 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0081 a0001c0001t0001g0168 a0001c0001t0004g0047	5	322	0.0155	-50	c.35 others(61): Show c.3531_*3580delTGTTTGTGGGTGTGCGGGTGTGTGTGTGGGTGGG TGTGGGTGTGTGTGTT	NSDHL	ENSG00000147383.11	transcript	ENST00000370274.8	protein_coding		2918		chrX	TogoVar
NSDHL_chrX_152826063_152874729	152872649	TTTGTGGG others(43): Show TTTGTGGGTGTGCGGGTGTGTGTGTGGGTGGGTGTGGGTGTGTGTGTTTG T	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(99): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG01070.hp1 HG01071.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01928.hp1 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02451.hp1 HG02622.hp2 HG02647.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03239.hp1 HG03491.hp2 HG03834.hp2 HG04184.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18987.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18997.hp1 NA19000.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19076.hp1 NA19079.hp1 NA19083.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0006 others(1): Show a0001c0001 a0001c0002 a0003c0006 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0003c0006t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0002g0010 a0001c0001t0002g0086 a0001c0001t0002g0106 a0001c0001t0002g0138 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0008g0088 a0001c0002t0001g0005 a0003c0006t0001g0036 a0004c0005t0001g0082 a0004c0005t0001g0083	102	266	0.3835	-50	c.35 others(61): Show c.3534_*3583delTTGTGGGTGTGCGGGTGTGTGTGTGGGTGGGTGT GGGTGTGTGTGTTTGT	NSDHL	ENSG00000147383.11	transcript	ENST00000370274.8	protein_coding		2921		chrX	TogoVar
NTM_chr11_131365615_132341822	131401799	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	33	0.0303	-50	c.82+ others(67): Show c.82+30924_82+30973delATATATATATATATATATATATATATAT ATATATATATATATATATATAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131873537	TGTATATA others(43): Show TGTATATATATACATATATATATACCGTATATATATACATATATATATAC C	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02922.hp2 HG03471.hp1 others(2): Show HG01243.hp1 HG02922.hp2 HG03471.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0023 a0001c0001t0003g0049 a0001c0001t0003g0051 others(2): Show a0001c0001t0001g0023 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0004g0005 a0001c0001t0004g0029	5	81	0.0617	-50	c.83- others(67): Show c.83-37977_83-37928delCGTATATATATACATATATATATACCGT ATATATATACATATATATATAC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTNG2_chr9_132157058_132249526	132174294	CACCATGC others(43): Show CACCATGCTGCGGATGAGACGGACGGACGGACGGACAGACAGACAGGTCG A	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp2 HG03041.hp1 HG02895.hp1 HG02922.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0041 a0001c0001t0043 a0001c0002t0042 a0001c0001t0041 a0001c0001t0043 a0001c0002t0042	a0001c0001t0041g0213 a0001c0001t0043g0212 a0001c0002t0042g0240 a0001c0001t0041g0213 a0001c0001t0043g0212 a0001c0002t0042g0240	3	321	0.0093	-50	c.213 others(67): Show c.213+7261_213+7310delGGATGAGACGGACGGACGGACGGACAGA CAGACAGGTCGAACCATGCTGC	NTNG2	ENSG00000196358.12	transcript	ENST00000393229.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUDT19_chr19_32686821_32718792	32704419	GCCCAGCT others(43): Show GCCCAGCTAAGTTTTGCATTTTTAGTAGAGACGGGGTTTCGCCATGTTGG T	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	404	0.0025	-50	c.715 others(67): Show c.715-4764_715-4715delCCAGCTAAGTTTTGCATTTTTAGTAGAG ACGGGGTTTCGCCATGTTGGTC	NUDT19	ENSG00000213965.4	transcript	ENST00000397061.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
NUDT2_chr9_34324569_34348699	34346370	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	433	0.0023	-50	c.29 others(61): Show c.2931_*2980delTATATATATATATATATATATATATATATATATA TATATATATATATATG	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding		2672		chr9	TogoVar
NUP155_chr5_37283137_37376106	37295970	TGCCCGGC others(43): Show TGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGAGGGGGGGGTCAGCCCCC C	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG04199.hp2 HG03017.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0038 a0001c0003t0001 a0001c0003t0038	a0001c0003t0001g0242 a0001c0003t0038g0283 a0001c0003t0001g0242 a0001c0003t0038g0283	2	298	0.0067	-50	c.379 others(69): Show c.3794-1555_3794-1506delGGGGGGCTGACCCCCCCCTCCTCCCT CCCGGATGGGGCGGCTGGCCGGGC	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	32/34			chr5	TogoVar
NUP54_chr4_76109664_76153397	76125276	TCTCACAG others(43): Show TCTCACAGAAACAAAAAACAAAAAACAGAGTGAGACTCCATCACACACAC A	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0064 a0002c0002t0003g0064	1	366	0.0027	-50	c.105 others(67): Show c.1057-570_1057-521delTGTGTGTGTGATGGAGTCTCACTCTGTT TTTTGTTTTTTGTTTCTGTGAG	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUSAP1_chr15_41327881_41386046	41382480	GCAGCCAC others(43): Show GCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGG C	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02257.hp1 others(13): Show HG01884.hp2 HG02055.hp2 HG02257.hp1 HG02280.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03471.hp2 HG03516.hp1 NA18522.hp1 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0171 a0002c0002t0001g0010 a0002c0002t0001g0237 others(12): Show a0001c0001t0001g0171 a0002c0002t0001g0010 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0268 a0002c0002t0001g0276 a0002c0002t0001g0277	16	290	0.0552	-50	c.22 others(61): Show c.2295_*2344delCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCGCCCGGC	NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding		1435		chr15	TogoVar
NWD2_chr4_37239743_37454463	37405421	TAATAGAA others(43): Show TAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA G	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	30	0.0333	-50	c.358 others(69): Show c.358-25128_358-25079delTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAA	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NXF2B_chrX_102355395_102445008	102412526	AAGAAGAA others(43): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGA G	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	54	0.0185	-50	c.-54 others(69): Show c.-54+25977_-54+26026delCTCTTCTTCCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCT	NXF2B	ENSG00000269437.8	transcript	ENST00000602195.6	protein_coding	2/22			chrX	TogoVar
OCA2_chr15_27749875_28104315	28070438	ATGGGGGG others(43): Show ATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCAGTCCGGGAGGGAG G	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0040 a0004c0040	a0004c0040t0001 a0004c0040t0001	a0004c0040t0001g0081 a0004c0040t0001g0081	1	108	0.0093	-50	c.227 others(69): Show c.227+11160_227+11209delCCTCCCTCCCGGACTGGGCGGCTGGC CGGGTGGGGGGGCTGACCCCCCCA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	2/23			chr15	TogoVar
ODAD3_chr19_11415605_11440121	11425022	CATATGTG others(43): Show CATATGTGCATATATACATATGTGTATATATGTGTATATGTGTATATATG T	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02280.hp2 others(6): Show HG01884.hp1 HG01891.hp2 HG02280.hp2 HG02486.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 others(6): Show a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0142	9	382	0.0236	-50	c.964 others(66): Show c.964-1043_964-994delACATATATACACATATACACATATATACA CATATGTATATATGCACATAT	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODF2L_chr1_86341837_86401323	86371612	CAAATATT others(43): Show CAAATATTCAGGGTTCATTATAGTGTTATCAGTAATACATTTCAAATAAT A	C C	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19006.hp1 NA19079.hp1 NA18961.hp1 NA19006.hp1 NA19079.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0160 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0160	3	404	0.0074	-50	c.921 others(65): Show c.921-509_921-460delTATTATTTGAAATGTATTACTGATAACACT ATAATGAACCCTGAATATTT	ODF2L	ENSG00000122417.16	transcript	ENST00000460698.7	protein_coding	9/16			chr1	TogoVar
ODF3_chr11_191761_205258	191841	AACCCTAA others(43): Show AACCCTAACCCTAACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCC T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01192.hp1 HG01106.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	386	0.0052	-50	c.-52 others(61): Show c.-5213_-5164delACCCTAACCCTAACCCCTAACCCCTAACCCTAAC CCTAACCCTAACCCCT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		4919		chr11	TogoVar
OGFOD3_chr17_82384210_82423586	82388826	GGAACCCC others(43): Show GGAACCCCTCCCCGGAGCCCCTCCCCGGAGCCCTCCCCGGAACCCTCCCC A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG04199.hp1 HG02976.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0027 a0001c0001t0003 a0001c0002t0027	a0001c0001t0003g0232 a0001c0002t0027g0097 a0001c0001t0003g0232 a0001c0002t0027g0097	2	345	0.0058	-50	c.35 others(61): Show c.3522_*3571delTGGGGAGGGTTCCGGGGAGGGCTCCGGGGAGGGG CTCCGGGGAGGGGTTC	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding		383		chr17	TogoVar
OIP5_chr15_41304273_41337591	41321208	TCAGCCCC others(43): Show TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTGGT C	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	354	0.0056	-50	c.390 others(67): Show c.390-1478_390-1429delGACCACCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTG	OIP5	ENSG00000104147.9	transcript	ENST00000220514.8	protein_coding	2/4			chr15	TogoVar
OIP5_chr15_41304273_41337591	41321239	GGGAGGGA others(43): Show GGGAGGGAGGTGGGGTGGTCCAGCCCCCCGCCCGGCCAGCCGTCCCGTCC T	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03239.hp1 HG03831.hp2 others(2): Show HG03017.hp2 HG03239.hp1 HG03831.hp2 HG03834.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0079 a0001c0001t0001g0082 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0006t0001g0078	5	354	0.0141	-50	c.390 others(67): Show c.390-1509_390-1460delAGGACGGGACGGCTGGCCGGGCGGGGGG CTGGACCACCCCACCTCCCTCC	OIP5	ENSG00000104147.9	transcript	ENST00000220514.8	protein_coding	2/4			chr15	TogoVar
OMP_chr11_77097840_77108331	77098782	ACCCCCCA others(43): Show ACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC C	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0000 a0006c0006t0001g0000	1	433	0.0023	-50	c.-40 others(61): Show c.-4057_-4008delCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACC	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4057		chr11	TogoVar
OR11G2_chr14_20185896_20206075	20187168	GACAGAGC others(43): Show GACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAGAAAAAAAAAGAGAA A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	480	0.0021	-50	c.-45 others(61): Show c.-4502_-4453delACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAA GAAAAAAAAAGAGAAA	OR11G2	ENSG00000196832.5	transcript	ENST00000641879.2	protein_coding		3727		chr14	TogoVar
OR6J1_chr14_22625929_22649352	22636345	TCCCTCTC others(43): Show TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC C	T T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	354	0.0028	-50	c.-27 others(67): Show c.-27-1557_-27-1508delGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR8S1_chr12_48520632_48531570	48521340	GTGGAAAG others(43): Show GTGGAAAGAGAGGGAGAGGGAGACGGTGGAAAGAGAGGGAGAGGGAGACC A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01943.hp1 HG03225.hp1 HG01884.hp1 HG01943.hp1 HG03225.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0007 a0002c0002 a0006c0007	a0002c0002t0001 a0006c0007t0001 a0002c0002t0001 a0006c0007t0001	a0002c0002t0001g0000 a0006c0007t0001g0000 a0002c0002t0001g0000 a0006c0007t0001g0000	3	320	0.0094	-50	c.-42 others(61): Show c.-4291_-4242delTGGAAAGAGAGGGAGAGGGAGACGGTGGAAAGAG AGGGAGAGGGAGACCA	OR8S1	ENSG00000284723.2	transcript	ENST00000641651.1	protein_coding		4291		chr12	TogoVar
OR8S1_chr12_48520632_48531570	48521364	GGTGGAAA others(43): Show GGTGGAAAGAGAGGGAGAGGGAGACCATGGAAAGAGAGGGAGAGGGAGAC C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA19005.hp2 NA19009.hp1 NA18966.hp2 NA19005.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	315	0.0095	-50	c.-42 others(61): Show c.-4267_-4218delGTGGAAAGAGAGGGAGAGGGAGACCATGGAAAGA GAGGGAGAGGGAGACC	OR8S1	ENSG00000284723.2	transcript	ENST00000641651.1	protein_coding		4267		chr12	TogoVar
OSBPL10_chr3_31655825_31986262	31812768	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG02647.hp2 others(1): Show HG01891.hp2 HG02559.hp2 HG02647.hp2 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0028 others(1): Show a0001c0001 a0001c0002 a0001c0028 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0028t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0028t0001 a0002c0003t0001	a0001c0001t0001g0066 a0001c0002t0001g0133 a0001c0028t0001g0093 others(1): Show a0001c0001t0001g0066 a0001c0002t0001g0133 a0001c0028t0001g0093 a0002c0003t0001g0139	4	184	0.0217	-50	c.729 others(69): Show c.729+17222_729+17271delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31812797	AGAAAGAA others(43): Show AGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA C	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0003 a0002c0014t0003	a0002c0014t0003g0164 a0002c0014t0003g0164	1	184	0.0054	-50	c.729 others(69): Show c.729+17193_729+17242delGTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTTTCTTTCTTTCTTTCTTTC	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSBPL6_chr2_178189512_178407893	178226268	GGGATGCT others(43): Show GGGATGCTGGGTGGTGCAGTCACCTTCCATGCTGGTAGCACAGTGGGCAA A	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01496.hp2 HG01515.hp1 others(4): Show HG01169.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG04228.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0022	a0001c0001t0001g0051 a0001c0001t0005g0039 a0001c0001t0005g0065 others(4): Show a0001c0001t0001g0051 a0001c0001t0005g0039 a0001c0001t0005g0065 a0001c0001t0007g0064 a0001c0001t0007g0199 a0001c0001t0007g0200 a0001c0001t0022g0066	7	198	0.0354	-50	c.-35 others(71): Show c.-351+31630_-351+31679delAGCACAGTGGGCAAAGGATGCTGG GTGGTGCAGTCACCTTCCATGCTGGT	OSBPL6	ENSG00000079156.17	transcript	ENST00000190611.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
OSTF1_chr9_75083514_75152265	75128456	CATATATA others(43): Show CATATATATATATATTTTGTCCATATATATATATATATATTTTGTCCATA T	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0299 a0001c0001t0023g0299	1	264	0.0038	-50	c.132 others(65): Show c.132+902_132+951delTTTGTCCATATATATATATATATATTTTGT CCATATATATATATATATAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTUD7A_chr15_31470398_31875673	31510505	TACATATA others(43): Show TACATATATATGTATATCTATATGTAACATACATATGTATATCTATATGT A	T T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0044 a0006c0019t0044	a0006c0019t0044g0056 a0006c0019t0044g0056	1	241	0.0041	-50	c.894 others(67): Show c.894-6737_894-6688delTACATATAGATATACATATGTATGTTAC ATATAGATATACATATATATGT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31510511	TATATGTA others(43): Show TATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATA C	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18962.hp2 NA19065.hp2 HG02572.hp2 NA18962.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0007 a0001c0004 a0002c0007	a0001c0004t0050 a0002c0007t0003 a0001c0004t0050 a0002c0007t0003	a0001c0004t0050g0010 a0002c0007t0003g0158 a0002c0007t0003g0159 a0001c0004t0050g0010 a0002c0007t0003g0158 a0002c0007t0003g0159	3	224	0.0134	-50	c.894 others(67): Show c.894-6743_894-6694delGTATGTTACATATAGATATACATATGTA TGTTACATATAGATATACATAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31511068	TATATGTA others(43): Show TATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATA C	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04115.hp2 HG03942.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0069 a0002c0003t0003g0076 a0002c0003t0003g0069 a0002c0003t0003g0076	2	238	0.0084	-50	c.894 others(67): Show c.894-7300_894-7251delGTATGTTACATATAGATATACATATGTA TGTTACATATAGATATACATAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
P2RY12_chr3_151331843_151389753	151368604	TATTTTAT others(43): Show TATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTCATTTCATTT C	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp1 HG02809.hp2 others(6): Show HG02257.hp2 HG02630.hp1 HG02809.hp2 HG02895.hp2 HG03098.hp2 HG03209.hp1 HG03516.hp2 NA18906.hp1 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0003 a0001c0002t0002 a0001c0002t0008 others(1): Show a0001c0001t0003 a0001c0002t0002 a0001c0002t0008 a0004c0006t0003	a0001c0001t0003g0044 a0001c0001t0003g0057 a0001c0001t0003g0178 others(5): Show a0001c0001t0003g0044 a0001c0001t0003g0057 a0001c0001t0003g0178 a0001c0001t0003g0226 a0001c0001t0003g0272 a0001c0002t0002g0055 a0001c0002t0008g0054 a0004c0006t0003g0053	9	352	0.0256	-50	c.-18 others(71): Show c.-180+16038_-180+16087delGAAATGAAATGAAATGAAATGAAA TAAAATAAAATAAAATAAAATAAAAT	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368629	TATTTCAT others(43): Show TATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATGT C	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01943.hp2 HG04204.hp1 others(2): Show HG01346.hp1 HG01943.hp2 HG04204.hp1 NA18975.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 others(2): Show a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120	5	151	0.0331	-50	c.-18 others(71): Show c.-180+16013_-180+16062delGACATGAAATGAAATGAAATGAAA TGAAATGAAATGAAATGAAATGAAAT	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
PA2G4_chr12_56099559_56118910	56116455	AAAACCAA others(43): Show AAAACCAAATACTCGGTCTTCCGAAAGAACTAACTCAACCTACCCTTCTA C	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	350	0.0029	-50	c.35 others(61): Show c.3568_*3617delAAACCAAATACTCGGTCTTCCGAAAGAACTAACT CAACCTACCCTTCTAC	PA2G4	ENSG00000170515.14	transcript	ENST00000303305.11	protein_coding		2546		chr12	TogoVar
PAAF1_chr11_73871999_73936114	73897187	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA C	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02630.hp1 others(2): Show HG01891.hp2 HG02145.hp1 HG02630.hp1 HG03130.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0005 a0002c0002t0002 a0003c0003t0002 a0001c0001t0005 a0002c0002t0002 a0003c0003t0002	a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 others(2): Show a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 a0002c0002t0002g0077 a0003c0003t0002g0301	5	366	0.0137	-50	c.283 others(67): Show c.283-1922_283-1873delGGCGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCG	PAAF1	ENSG00000175575.13	transcript	ENST00000310571.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PABIR2_chrX_134764566_134802205	134788222	TTATATAT others(43): Show TTATATATGTGTAATATATACACGTTATATATGTGTAATATATACACGTT A	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA21309.hp1 HG02572.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	204	0.0098	-50	c.435 others(65): Show c.435+458_435+507delTAACGTGTATATATTACACATATATAACGT GTATATATTACACATATATA	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9			chrX	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172362	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATTTTTTT T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02559.hp1 others(3): Show HG02145.hp2 HG02257.hp2 HG02559.hp1 HG02647.hp2 HG03516.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0032 a0001c0001t0043 a0001c0001t0023 a0001c0001t0032 a0001c0001t0043	a0001c0001t0023g0020 a0001c0001t0032g0121 a0001c0001t0032g0123 others(1): Show a0001c0001t0023g0020 a0001c0001t0032g0121 a0001c0001t0032g0123 a0001c0001t0043g0120	6	430	0.0140	-50	c.46 others(61): Show c.4664_*4713delTATATATATATATATATATATATATATATATATA TATATATATTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1318		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172366	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG03579.hp1 HG01074.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0124 a0001c0001t0028g0126 a0001c0001t0028g0124 a0001c0001t0028g0126	2	424	0.0047	-50	c.46 others(61): Show c.4668_*4717delTATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1322		chr11	TogoVar
PAH_chr12_102831889_102922244	102868038	ACCTATAT others(43): Show ACCTATATATATGTATATATATACACATATATATACATATATGTGTGTGT G	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	312	0.0032	-50	c.442 others(67): Show c.442-1425_442-1376delCACACACACATATATGTATATATATGTG TATATATATACATATATATAGG	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102868088	GTATATAT others(43): Show GTATATATATATATATACACATATATATACATATATGTGTATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0255 a0001c0003t0005g0255	1	242	0.0041	-50	c.442 others(67): Show c.442-1475_442-1426delTATATATATATACACATATATGTATATA TATGTGTATATATATATATATA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PALD1_chr10_70473767_70573450	70508793	GTGTGTGT others(43): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGCAGGCCTGTGGGAGCTGCGGAAC C	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0229 a0001c0001t0015g0229	1	306	0.0033	-50	c.-29 others(69): Show c.-29-17115_-29-17066delTGTGTGTGTGTGCAGGCCTGTGGGAG CTGCGGAACCTGTGTGTGTGTGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar

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