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
NUCB1_chr19_48895312_48928372	48922134	GGAGGAGG others(23): Show GGAGGAGGGGCTGGGACCCCTGGGTGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp1 HG03471.hp1 HG02615.hp2 HG02630.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0319 a0001c0001t0004g0326 a0001c0001t0016g0338 a0001c0001t0004g0319 a0001c0001t0004g0326 a0001c0001t0016g0338	3	394	0.0076	-30	c.128 others(47): Show c.1280-169_1280-140delACCCCTGGGTGTGAGTGAGGAGGGGCTG GG	NUCB1	ENSG00000104805.17	transcript	ENST00000405315.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NUDT14_chr14_105167939_105186312	105177160	TCAGATAG others(23): Show TCAGATAGGATGGCTGAGGCCCAGGCGGGAC	T T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	396	0.0025	-30	c.126 others(45): Show c.126-163_126-134delGTCCCGCCTGGGCCTCAGCCATCCTATCTG	NUDT14	ENSG00000183828.15	transcript	ENST00000392568.7	protein_coding	2/4			chr14	TogoVar
NUDT16_chr3_131376774_131393830	131392307	AACAAACT others(23): Show AACAAACTAGACACAAACTCACAAATTCAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	417	0.0024	-30	c.89 others(41): Show c.8967_*8996delACAAACTAGACACAAACTCACAAATTCAAG	NUDT16	ENSG00000198585.12	transcript	ENST00000521288.2	protein_coding		3478		chr3	TogoVar
NUDT2_chr9_34324569_34348699	34340380	AGATGGGC others(23): Show AGATGGGCAGGGCCTTCTTAGACCAGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00597.hp2 others(71): Show HG00323.hp1 HG00544.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp2 HG01109.hp1 HG01257.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01981.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp2 HG02293.hp2 HG02602.hp1 HG02647.hp2 HG02738.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18955.hp2 NA18964.hp2 NA18973.hp2 NA18974.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18993.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19030.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19088.hp1 NA19089.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 others(29): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249	74	434	0.1705	-30	c.127 others(47): Show c.127+1237_127+1266delCAGGAGGGGATGGGCAGGGCCTTCTTAG AC	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUDT2_chr9_34324569_34348699	34346359	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	354	0.0028	-30	c.29 others(41): Show c.2920_*2949delATATATATATATATATATATATATATATAT	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding		2661		chr9	TogoVar
NUDT2_chr9_34324569_34348699	34346390	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02132.hp1 HG02165.hp2 others(34): Show HG01496.hp1 HG02132.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02647.hp2 HG02965.hp1 HG03130.hp2 HG03225.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18943.hp2 NA18946.hp1 NA18955.hp2 NA18960.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18991.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19010.hp1 NA19060.hp2 NA19063.hp1 NA19077.hp2 NA19081.hp2 NA19089.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0187 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0247	37	434	0.0853	-30	c.29 others(41): Show c.2951_*2980delTATATATATATATATATATATATATATATG	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding		2692		chr9	TogoVar
NUDT3_chr6_34274679_34397669	34305278	CCAGCCTG others(23): Show CCAGCCTGAATTATTTTAAAAGTAAATTTGG	C C	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	268	0.0037	-30	c.211 others(47): Show c.211-9623_211-9594delCCAAATTTACTTTTAAAATAATTCAGGC TG	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	2/4			chr6	TogoVar
NUDT7_chr16_77717514_77747260	77737030	CTAGACCA others(23): Show CTAGACCATAGGAAACTAGACTATAGGAAAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG02886.hp1 others(5): Show HG02615.hp2 HG02630.hp2 HG02886.hp1 HG02895.hp2 HG02976.hp1 HG03453.hp1 HG03540.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0011t0006 a0001c0001t0002 a0001c0011t0006	a0001c0001t0002g0062 a0001c0001t0002g0193 a0001c0001t0002g0206 others(4): Show a0001c0001t0002g0062 a0001c0001t0002g0193 a0001c0001t0002g0206 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0011t0006g0290	8	460	0.0174	-30	c.348 others(47): Show c.348+1055_348+1084delGAAACTAGACTATAGGAAATTAGACCAT AG	NUDT7	ENSG00000140876.11	transcript	ENST00000268533.9	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUMA1_chr11_71997864_72085542	72040445	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 NA18981.hp1 HG02280.hp2 HG02559.hp1 NA18981.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0020 a0002c0002 a0003c0004 a0001c0020 a0002c0002 a0003c0004	a0001c0020t0003 a0002c0002t0001 a0003c0004t0001 a0001c0020t0003 a0002c0002t0001 a0003c0004t0001	a0001c0020t0003g0003 a0002c0002t0001g0083 a0003c0004t0001g0027 a0001c0020t0003g0003 a0002c0002t0001g0083 a0003c0004t0001g0027	3	8	0.3750	-30	c.-32 others(47): Show c.-32-4500_-32-4471delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMB_chr14_73270216_73463546	73352455	CACATACA others(23): Show CACATACACACACACACACACACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02148.hp2 NA18939.hp1 HG01978.hp1 HG02148.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0070 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0070	3	285	0.0105	-30	c.126 others(47): Show c.126+3141_126+3170delATATATATGTGTGTGTGTGTGTGTGTAT GT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352457	CATACACA others(23): Show CATACACACACACACACACACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18955.hp2 HG02300.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0056 a0001c0001t0003g0039 a0001c0001t0003g0056	2	312	0.0064	-30	c.126 others(47): Show c.126+3139_126+3168delATATATATATGTGTGTGTGTGTGTGTGT AT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352473	CACACATA others(23): Show CACACATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp2 HG01099.hp2 others(8): Show HG00738.hp2 HG01074.hp2 HG01099.hp2 HG02083.hp2 HG02132.hp2 HG02647.hp2 HG02886.hp1 HG03831.hp1 NA18942.hp1 NA18989.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0006t0002	a0001c0001t0001g0282 a0001c0001t0002g0175 a0001c0001t0002g0179 others(8): Show a0001c0001t0001g0282 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0198 a0001c0001t0002g0210 a0001c0004t0002g0168 a0001c0004t0002g0169 a0001c0004t0002g0207 a0001c0006t0002g0258	11	240	0.0458	-30	c.126 others(47): Show c.126+3123_126+3152delATATATATATATATATATATATATATGT GT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUP133_chr1_229435259_229513341	229435455	CCTGTCCC others(23): Show CCTGTCCCTCTCTCTCTCTCTCTCTCTCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02451.hp1 HG01106.hp2 HG02451.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0009 a0003c0011t0009	a0003c0011t0009g0136 a0003c0011t0009g0137 a0003c0011t0009g0136 a0003c0011t0009g0137	2	274	0.0073	-30	c.64 others(41): Show c.6419_*6448delAGAGAGAGAGAGAGAGAGAGAGAGGGACAG	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding		4803		chr1	TogoVar
NUP133_chr1_229435259_229513341	229435461	CCTCTCTC others(23): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0113 a0003c0003t0003g0113	1	56	0.0179	-30	c.64 others(41): Show c.6413_*6442delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding		4797		chr1	TogoVar
NUP160_chr11_47773118_47853350	47850823	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	59	0.0169	-30	c.-25 others(41): Show c.-2535_-2506delATATATATATATATATATATATATATATAT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2474		chr11	TogoVar
NUP205_chr7_135552917_135653753	135567120	CTATGTGT others(23): Show CTATGTGTGTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA19030.hp2 NA18978.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0003 a0001c0002t0001 a0002c0005t0003	a0001c0002t0001g0223 a0002c0005t0003g0156 a0001c0002t0001g0223 a0002c0005t0003g0156	2	126	0.0159	-30	c.29- others(45): Show c.29-3981_29-3952delGTGTGTATATATATATATATATATATATAT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP214_chr9_131120586_131239663	131123944	ATATGTGT others(23): Show ATATGTGTGTGTGTGTATATATATATGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0012 a0002c0020t0012	a0002c0020t0012g0132 a0002c0020t0012g0132	1	232	0.0043	-30	c.-17 others(41): Show c.-1760_-1731delTATGTGTGTGTGTGTATATATATATGTGTG	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding		1641		chr9	TogoVar
NUP54_chr4_76109664_76153397	76125286	ACAAAAAA others(23): Show ACAAAAAACAAAAAACAGAGTGAGACTCCAT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18989.hp2 HG04199.hp2 NA18989.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0044 a0002c0002t0003g0072 a0002c0002t0003g0044 a0002c0002t0003g0072	2	368	0.0054	-30	c.105 others(47): Show c.1057-560_1057-531delATGGAGTCTCACTCTGTTTTTTGTTTTT TG	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUP62CL_chrX_107118427_107211433	107152031	AATATATA others(23): Show AATATATATATATATTCAGATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0246 a0002c0002t0001g0246	1	278	0.0036	-30	c.530 others(47): Show c.530+1111_530+1140delATATATATATATCTGAATATATATATAT AT	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	7/8			chrX	TogoVar
NUP85_chr17_75200679_75240758	75212228	GGTTTTTT others(23): Show GGTTTTTTTTTTTGTTGTTGTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	60	0.0167	-30	c.361 others(45): Show c.361+167_361+196delGTTTTTTTTTTTGTTGTTGTTTTTTTTTTT	NUP85	ENSG00000125450.11	transcript	ENST00000245544.9	protein_coding	4/18			chr17	TogoVar
NUP98_chr11_3670019_3802554	3702309	ACACACTC others(23): Show ACACACTCTCTCTCTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	330	0.0030	-30	c.351 others(47): Show c.3512+124_3512+153delAGAGAGAGAGAGAGAGAGAGAGAGAGTG TG	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	23/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3702313	ACTCTCTC others(23): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03195.hp1 HG03130.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0074 a0001c0002t0001g0075	2	109	0.0183	-30	c.351 others(47): Show c.3512+120_3512+149delAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	23/32			chr11	TogoVar
NUTF2_chr16_67841933_67877567	67842893	ACAGCAGC others(23): Show ACAGCAGCAACAGCAGCAGCAGCAGCAACAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	242	0.0041	-30	c.-41 others(41): Show c.-4121_-4092delCAGCAGCAACAGCAGCAGCAGCAGCAACAG	NUTF2	ENSG00000102898.13	transcript	ENST00000219169.9	protein_coding		4039		chr16	TogoVar
NWD1_chr19_16714847_16822953	16777910	GGGGAAGG others(23): Show GGGGAAGGAAAGGAAAGGGAGGGAAGGGAAA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03453.hp1 HG03041.hp1 HG03453.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0005 a0004c0009t0005	a0004c0009t0005g0140 a0004c0009t0005g0224 a0004c0009t0005g0140 a0004c0009t0005g0224	2	290	0.0069	-30	c.260 others(49): Show c.2609-1392_2609-1363delGGAAAGGGAGGGAAGGGAAAGGGAAG GAAA	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16819407	TACACATA others(23): Show TACACATACATATGTATATATGTATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01884.hp1 HG02293.hp1 HG01361.hp2 HG01884.hp1 HG02293.hp1	a0006 a0018 a0006 a0018	a0006c0015 a0018c0026 a0006c0015 a0018c0026	a0006c0015t0028 a0018c0026t0002 a0018c0026t0015 a0006c0015t0028 a0018c0026t0002 a0018c0026t0015	a0006c0015t0028g0204 a0018c0026t0002g0083 a0018c0026t0015g0078 a0006c0015t0028g0204 a0018c0026t0002g0083 a0018c0026t0015g0078	3	294	0.0102	-30	c.43 others(41): Show c.4369_*4398delACACATACATATGTATATATGTATATATAC	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding		1455		chr19	TogoVar
NWD2_chr4_37239743_37454463	37405421	TAATAGAA others(23): Show TAATAGAATAGAATAGAATAGAATAGAATAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02080.hp1 HG02145.hp1 others(4): Show HG01243.hp2 HG02080.hp1 HG02145.hp1 HG02622.hp1 HG03041.hp1 HG03209.hp2 NA20300.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0015 a0008c0032 a0001c0001 a0001c0015 a0008c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0015t0003 a0008c0032t0002	a0001c0001t0001g0055 a0001c0001t0002g0034 a0001c0001t0002g0061 others(4): Show a0001c0001t0001g0055 a0001c0001t0002g0034 a0001c0001t0002g0061 a0001c0001t0002g0177 a0001c0001t0005g0258 a0001c0015t0003g0057 a0008c0032t0002g0054	7	36	0.1944	-30	c.358 others(49): Show c.358-25108_358-25079delTAGAATAGAATAGAATAGAATAGAAT AGAA	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NXF2B_chrX_102355395_102445008	102412477	AAAGAAGA others(23): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18989.hp1 HG04199.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0049 a0001c0001t0001g0024 a0001c0001t0001g0049	2	33	0.0606	-30	c.-54 others(49): Show c.-54+26046_-54+26075delCTTCTTCTTCTTCTTCTTCTTCTTCT TCTT	NXF2B	ENSG00000269437.8	transcript	ENST00000602195.6	protein_coding	2/22			chrX	TogoVar
NXNL1_chr19_17450425_17465926	17463783	AAGAAGAA others(23): Show AAGAAGAAGAAGAAGAAGGAGAAGGAGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA19064.hp1 NA18999.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0006	2	347	0.0058	-30	c.-29 others(41): Show c.-2944_-2915delCCTTCTCCTTCTCCTTCTTCTTCTTCTTCT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2858		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17463789	AAGAAGAA others(23): Show AAGAAGAAGAAGGAGAAGGAGAAGGAGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 NA18952.hp1 NA18963.hp1 others(1): Show HG03942.hp1 NA18952.hp1 NA18963.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0001 a0001c0001t0001g0010	4	295	0.0136	-30	c.-29 others(41): Show c.-2950_-2921delCCTTCTCCTTCTCCTTCTCCTTCTTCTTCT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2864		chr19	TogoVar
NXN_chr17_794310_984776	810167	GAGTCTGT others(23): Show GAGTCTGTGACTGGCGTGCATGTTACGAGTC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0154 a0001c0001t0004g0154	1	240	0.0042	-30	c.821 others(47): Show c.821-4950_821-4921delGACTCGTAACATGCACGCCAGTCACAGA CT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	894110	TCCCTGGA others(23): Show TCCCTGGAAGCCAGAGGAAGCATCTCAAACG	T T	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	192	0.0052	-30	c.361 others(49): Show c.361-68062_361-68033delCGTTTGAGATGCTTCCTCTGGCTTCC AGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXPE1_chr11_114513934_114564881	114540837	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03540.hp2 HG02717.hp1 HG03540.hp2	a0002 a0012 a0002 a0012	a0002c0021 a0012c0019 a0002c0021 a0012c0019	a0002c0021t0004 a0012c0019t0004 a0002c0021t0004 a0012c0019t0004	a0002c0021t0004g0137 a0012c0019t0004g0136 a0002c0021t0004g0137 a0012c0019t0004g0136	2	57	0.0351	-30	c.100 others(47): Show c.100-9959_100-9930delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	NXPE1	ENSG00000095110.9	transcript	ENST00000534921.3	protein_coding	5/8			chr11	TogoVar
NXPH1_chr7_8428609_8757961	8571018	TATCTAAT others(23): Show TATCTAATCTAATCTAATCTAATCTAATCTA	T T	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	4	0.2500	-30	c.54+ others(49): Show c.54+135283_54+135312delTCTAATCTAATCTAATCTAATCTAAT CTAA	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8655396	GTCTTTCT others(23): Show GTCTTTCTCTCTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA19091.hp1 HG03831.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0158 a0001c0001t0001g0101 a0001c0001t0001g0158	2	101	0.0198	-30	c.55- others(47): Show c.55-95608_55-95579delTTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
OBI1_chr13_78609289_78664155	78656780	CTTTTATT others(23): Show CTTTTATTTTTAATTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	294	0.0034	-30	c.72+ others(45): Show c.72+2239_72+2268delAAAAAAAAAAAAAAAAAATTAAAAATAAAA	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding	1/5			chr13	TogoVar
OCA2_chr15_27749875_28104315	27972820	GTTATTTT others(23): Show GTTATTTTATTTTATTTTATTTTATTTTATT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02922.hp1 HG02647.hp2 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0024 a0001c0007t0001g0090 a0001c0007t0001g0024 a0001c0007t0001g0090	2	30	0.0667	-30	c.150 others(49): Show c.1504-6028_1504-5999delAATAAAATAAAATAAAATAAAATAAA ATAA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	14/23			chr15	TogoVar
ODAD2_chr10_27807168_28004079	27885525	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	246	0.0041	-30	c.261 others(51): Show c.2610+22108_2610+22137delATATATTTATATATATATATATTT TTTTTT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	17/19			chr10	TogoVar
ODAD2_chr10_27807168_28004079	27885529	AAAAAATA others(23): Show AAAAAATATATATATATATAAATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02109.hp2 HG00735.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0248 a0001c0001t0004g0249	2	147	0.0136	-30	c.261 others(51): Show c.2610+22104_2610+22133delATTTATATATTTATATATATATAT ATTTTT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	17/19			chr10	TogoVar
ODAD3_chr19_11415605_11440121	11425130	TATATGTG others(23): Show TATATGTGTATATGTACATATGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	369	0.0027	-30	c.963 others(46): Show c.963+984_963+1013delGTATATATACATATGTACATATACACATA T	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODC1_chr2_10434968_10453327	10448557	GCCCCGCC others(23): Show GCCCCGCCCTCCCCGCCCTGCGGCCGCCTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 NA19030.hp2 HG02818.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0018 a0001c0004t0001g0013 a0001c0001t0001g0018 a0001c0004t0001g0013	2	429	0.0047	-30	c.-59 others(39): Show c.-594_-565delAGAGGCGGCCGCAGGGCGGGGAGGGCGGGG	ODC1	ENSG00000115758.14	transcript	ENST00000234111.9	protein_coding		231		chr2	TogoVar
OGFRL1_chr6_71283811_71314059	71287930	CAACAGAA others(23): Show CAACAGAACAGAACAGAACAGAACAGAACAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 NA18975.hp1 NA18999.hp1 others(1): Show HG00733.hp2 NA18975.hp1 NA18999.hp1 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0044 a0002c0002t0047 a0002c0002t0023 a0002c0002t0044 a0002c0002t0047	a0002c0002t0023g0049 a0002c0002t0023g0120 a0002c0002t0044g0121 others(1): Show a0002c0002t0023g0049 a0002c0002t0023g0120 a0002c0002t0044g0121 a0002c0002t0047g0049	4	70	0.0571	-30	c.-10 others(40): Show c.-1006_-977delAACAGAACAGAACAGAACAGAACAGAACAG	OGFRL1	ENSG00000119900.9	transcript	ENST00000370435.5	protein_coding		880		chr6	TogoVar
OLA1_chr2_174067447_174253532	174163711	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01255.hp1 HG02630.hp1 others(2): Show HG01081.hp2 HG01255.hp1 HG02630.hp1 HG02698.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0007 a0001c0001t0011	a0001c0001t0007g0011 a0001c0001t0007g0232 a0001c0001t0007g0233 others(2): Show a0001c0001t0007g0011 a0001c0001t0007g0232 a0001c0001t0007g0233 a0001c0001t0007g0238 a0001c0001t0011g0242	5	200	0.0250	-30	c.374 others(49): Show c.374-21741_374-21712delATATATATATATATATATATATATAT ATAT	OLA1	ENSG00000138430.16	transcript	ENST00000284719.8	protein_coding	4/10			chr2	TogoVar
OLFM1_chr9_135082668_135126180	135124524	GAAGGAAG others(23): Show GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG02738.hp2 others(4): Show HG00099.hp2 HG00738.hp2 HG02738.hp2 HG03239.hp2 HG03490.hp2 HG03669.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0005	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0002g0133 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0002g0133 a0001c0001t0007g0304 a0001c0001t0007g0305 a0001c0001t0007g0306 a0001c0002t0005g0226	7	308	0.0227	-30	c.43 others(41): Show c.4347_*4376delAAGGAAGGAAAGAAGGAAGGAAGGAAGGAA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3345		chr9	TogoVar
ONECUT3_chr19_1748506_1785988	1768899	GAGGTGGT others(23): Show GAGGTGGTGGAGGTGGAGGTGGTGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02109.hp2 HG01496.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0098 a0001c0001t0096 a0001c0001t0098	a0001c0001t0096g0133 a0001c0001t0098g0132 a0001c0001t0096g0133 a0001c0001t0098g0132	2	368	0.0054	-30	c.119 others(49): Show c.1193-6247_1193-6218delTGGAGGTGGAGGTGGTGGAGGTGAAG GTGG	ONECUT3	ENSG00000205922.5	transcript	ENST00000382349.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
OPALIN_chr10_96338221_96364002	96361936	ATACAATA others(23): Show ATACAATACAATACAGTACAGTACAGTACAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG03209.hp2 others(2): Show HG02258.hp2 HG02280.hp1 HG03209.hp2 HG03486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0019 a0001c0001t0003 a0001c0001t0007 a0001c0001t0019	a0001c0001t0003g0205 a0001c0001t0007g0206 a0001c0001t0007g0207 others(2): Show a0001c0001t0003g0205 a0001c0001t0007g0206 a0001c0001t0007g0207 a0001c0001t0007g0219 a0001c0001t0019g0068	5	388	0.0129	-30	c.-30 others(41): Show c.-3070_-3041delCTGTACTGTACTGTACTGTATTGTATTGTA	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding		2935		chr10	TogoVar
OPCML_chr11_132409981_133537501	132599366	GAGGAGGA others(23): Show GAGGAGGAAGAAGGAGGAAGAAGGAGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02258.hp2 HG02647.hp2 others(9): Show HG01255.hp1 HG02258.hp2 HG02647.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0029 a0001c0001t0031	a0001c0001t0001g0011 a0001c0001t0002g0026 a0001c0001t0003g0016 others(9): Show a0001c0001t0001g0011 a0001c0001t0002g0026 a0001c0001t0003g0016 a0001c0001t0003g0050 a0001c0001t0004g0048 a0001c0001t0007g0029 a0001c0001t0007g0040 a0001c0001t0017g0052 a0001c0001t0019g0051 a0001c0001t0021g0036 a0001c0001t0029g0058 a0001c0001t0031g0062	12	27	0.4444	-30	c.379 others(49): Show c.379+57691_379+57720delTCTTCCTCCTTCTTCCTCCTTCTTCC TCCT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	3/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	132687369	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0012 a0001c0001t0016g0012	1	4	0.2500	-30	c.147 others(49): Show c.147-30080_147-30051delATATATATATATATATATATATATAT ATAT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	2/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	132975529	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG03098.hp2 HG02258.hp1 HG02647.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0019 a0001c0001t0020 a0001c0001t0005 a0001c0001t0019 a0001c0001t0020	a0001c0001t0005g0038 a0001c0001t0019g0051 a0001c0001t0020g0033 a0001c0001t0005g0038 a0001c0001t0019g0051 a0001c0001t0020g0033	3	4	0.7500	-30	c.62- others(47): Show c.62-32549_62-32520delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	132989602	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0053 a0001c0001t0026g0053	1	13	0.0769	-30	c.62- others(47): Show c.62-46622_62-46593delACACACACACACACACACACACACACAC AC	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133458275	CACACATA others(23): Show CACACATATATACACGTGTGTGTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp1 HG03041.hp2 HG02145.hp1 HG02615.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0001 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0034 a0001c0001t0005g0023 a0001c0001t0011g0056 a0001c0001t0001g0034 a0001c0001t0005g0023 a0001c0001t0011g0056	3	37	0.0811	-30	c.61+ others(47): Show c.61+73959_61+73988delATATATATACACACACGTGTATATATGT GT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar

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