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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NSUN6_chr10_18540561_18656587	18600941	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02148.hp2 NA18981.hp1 others(3): Show HG00673.hp2 HG02148.hp2 NA18981.hp1 NA18983.hp2 NA18993.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0040 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0115 a0001c0001t0010g0062	6	95	0.0632	25	c.658 others(42): Show c.658-4615_658-4614insATATATATATATATATATATATATT		NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10						chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	90	0.0111	25	c.658 others(42): Show c.658-4615_658-4614insATATATATATATATATATATATATA		NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10						chr10	TogoVar
NT5DC3_chr12_103767310_103846234	103840377	G G	GCTCATCT others(18): Show GCTCATCTCATCTCATCTCATCTCAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01978.hp1 HG06807.hp1 HG01928.hp1 HG01978.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0005 a0001c0005t0011 a0001c0001t0005 a0001c0005t0011	a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0005t0011g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0005t0011g0023	3	117	0.0256	25	c.208 others(40): Show c.208+547_208+571dupATGAGATGAGATGAGATGAGATGAG		NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding	1/13						chr12	TogoVar
NTM_chr11_131365615_132341822	131424600	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA20300.hp2 HG01496.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0042 a0001c0001t0001g0017 a0001c0001t0001g0042	2	18	0.1111	25	c.82+ others(42): Show c.82+53730_82+53731insTTTTTTTTTTTTTTTTTTTTTTTTT		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN1_chr17_9016510_9249000	9038265	C C	CTCACACA others(18): Show CTCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0121 a0001c0001t0016g0121	1	107	0.0093	25	c.101 others(46): Show c.1018+14874_1018+14875insTCACACACACACACACACACACAC A		NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6						chr17	TogoVar
NTN1_chr17_9016510_9249000	9114164	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0094 a0001c0001t0006g0094	1	117	0.0085	25	c.101 others(46): Show c.1019-48649_1019-48648insTATATATATATATATATATATATA T		NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6						chr17	TogoVar
NTN1_chr17_9016510_9249000	9193938	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18950.hp1 HG01496.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0065 a0001c0001t0011g0154 a0001c0001t0001g0065 a0001c0001t0011g0154	2	158	0.0127	25	c.141 others(46): Show c.1411+10975_1411+10976insAAAAAAAAAAAAAAAAAACAAAAA A		NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN4_chr12_95652807_95795764	95700080	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	34	0.0294	25	c.118 others(46): Show c.1180+10336_1180+10360dupAAAAAAAAAAAAAAAAAAAAAAAA A		NTN4	ENSG00000074527.13	transcript	ENST00000343702.9	protein_coding	5/9						chr12	TogoVar
NTNG2_chr9_132157058_132249526	132185820	C C	CAGGGAGG others(18): Show CAGGGAGGAGGAGGAGGAGTGGGAGG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0318 a0001c0004t0001g0318	1	356	0.0028	25	c.214 others(44): Show c.214-12142_214-12118dupGAGGAGGAGGAGGAGTGGGAGGAGG		NTNG2	ENSG00000196358.12	transcript	ENST00000393229.4	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84888982	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	32	0.0313	25	c.163 others(46): Show c.1633+21553_1633+21577dupTTTTTTTTTTTTTTTTTTTTTTTT T		NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84901194	G G	GTTTTATT others(18): Show GTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA20129.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0045 a0001c0001t0006 a0001c0001t0045	a0001c0001t0006g0053 a0001c0001t0045g0106 a0001c0001t0006g0053 a0001c0001t0045g0106	2	134	0.0149	25	c.163 others(46): Show c.1634-32964_1634-32963insATTTTATTTTATTTTATTTTATTT T		NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84901199	G G	GTTTTATT others(18): Show GTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	38	0.0263	25	c.163 others(46): Show c.1634-32959_1634-32958insATTTTATTTTATTTTATTTTATTT T		NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	85011958	A A	ATTATTTT others(18): Show ATTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01256.hp1 others(15): Show HG00642.hp1 HG00735.hp1 HG01256.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02647.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03834.hp2 NA18983.hp2 NA19010.hp1 NA19060.hp1 NA19066.hp2 NA19074.hp1 NA19077.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(12): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0016 a0001c0001t0025 a0001c0001t0034 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0058 a0001c0002t0004 a0001c0002t0006	a0001c0001t0003g0100 a0001c0001t0004g0045 a0001c0001t0004g0046 others(15): Show a0001c0001t0003g0100 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0006g0009 a0001c0001t0006g0170 a0001c0001t0007g0081 a0001c0001t0015g0040 a0001c0001t0016g0135 a0001c0001t0025g0076 a0001c0001t0034g0145 a0001c0001t0051g0090 a0001c0001t0052g0108 a0001c0001t0053g0110 a0001c0001t0054g0069 a0001c0001t0058g0002 a0001c0002t0004g0141 a0001c0002t0006g0156	18	30	0.6000	25	c.217 others(44): Show c.2173-8229_2173-8205dupTTTTATTTTATTTTATTTTATTTTA		NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUAK1_chr12_106058345_106143954	106143428	A A	ATATAAAT others(18): Show ATATAAATTATATACAATATATTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp2 HG02155.hp1 HG02155.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0296 a0002c0002t0001g0252 a0001c0001t0002g0296 a0002c0002t0001g0252	2	354	0.0056	25	c.-47 others(36): Show c.-4776_-4775insGACAATATATTGTATATAATTTATA		NUAK1	ENSG00000074590.14	transcript	ENST00000261402.7	protein_coding					4475		chr12	TogoVar
NUBPL_chr14_31556404_31866224	31605890	T T	TCTCCTCC others(18): Show TCTCCTCCCTTCTCCTTCCTTCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp2 HG01167.hp1 others(19): Show HG00099.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp2 HG01978.hp1 HG02109.hp1 HG02622.hp1 HG02698.hp1 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03471.hp2 HG03540.hp2 HG03831.hp2 HG04115.hp1 HG04184.hp1 NA18522.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015	a0001c0001t0001g0028 a0001c0001t0001g0066 a0001c0001t0002g0052 others(19): Show a0001c0001t0001g0028 a0001c0001t0001g0066 a0001c0001t0002g0052 a0001c0001t0002g0064 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0006g0026 a0001c0001t0006g0038 a0001c0001t0006g0065 a0001c0001t0006g0068 a0001c0001t0006g0069 a0001c0001t0010g0197 a0001c0001t0010g0226 a0001c0001t0010g0227 a0001c0001t0010g0228 a0001c0001t0012g0067 a0001c0001t0012g0070 a0001c0001t0012g0071 a0001c0001t0012g0121 a0001c0001t0014g0034 a0001c0001t0015g0161	22	266	0.0827	25	c.382 others(42): Show c.382+6526_382+6550dupTTCCTTCTCTCCTCCTCCCTTCTCC		NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31666263	A A	ATATATAT others(18): Show ATATATATATATATATATTATTATTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0142 a0001c0001t0008g0142	1	88	0.0114	25	c.383 others(42): Show c.383-7092_383-7091insTATATATATATATATATTATTATTT		NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	4/10						chr14	TogoVar
NUBPL_chr14_31556404_31866224	31831468	T T	TATACCAT others(18): Show TATACCATACCATACCATACCATACC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	41	0.0244	25	c.693 others(42): Show c.693+4779_693+4803dupCATACCATACCATACCATACCATAC		NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31831468	T T	TGTACTAT others(18): Show TGTACTATACCATACCATACCATACC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG01192.hp2 others(14): Show HG00140.hp1 HG01099.hp1 HG01192.hp2 HG01257.hp2 HG01993.hp2 HG02015.hp2 HG02080.hp2 HG02486.hp2 HG03098.hp2 HG03490.hp1 NA18522.hp1 NA18982.hp1 NA18992.hp1 NA19000.hp2 NA19002.hp1 NA19009.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0174 a0001c0001t0001g0187 a0001c0001t0001g0201 others(14): Show a0001c0001t0001g0174 a0001c0001t0001g0187 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0257 a0001c0001t0004g0239 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0010g0197 a0001c0001t0011g0255	17	57	0.2982	25	c.693 others(42): Show c.693+4754_693+4755insGTACTATACCATACCATACCATACC		NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	8/10						chr14	TogoVar
NUCKS1_chr1_205707822_205755182	205732779	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0051 a0001c0001t0009 a0001c0001t0051	a0001c0001t0009g0280 a0001c0001t0051g0279 a0001c0001t0009g0280 a0001c0001t0051g0279	2	168	0.0119	25	c.18- others(40): Show c.18-3159_18-3158insTTTTTTTTTTTTTTTTTTTTTTTTT		NUCKS1	ENSG00000069275.13	transcript	ENST00000367142.5	protein_coding	1/6						chr1	TogoVar
NUDT15_chr13_48032726_48052221	48037953	A A	ACTCGGGG others(18): Show ACTCGGGGCGTGCGCAGAGGGACGAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00597.hp1 others(47): Show HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00642.hp1 HG00673.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01255.hp1 HG01256.hp1 HG01884.hp1 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02055.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02622.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03453.hp1 HG03688.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp2 NA18959.hp2 NA18970.hp2 NA18979.hp1 NA18986.hp2 NA18992.hp2 NA18995.hp1 NA19007.hp2 NA19057.hp1 NA19072.hp2 NA19081.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0001 a0001c0001t0006 a0001c0001t0011	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0021 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0006g0020 a0001c0001t0011g0079	50	422	0.1185	25	c.158 others(38): Show c.158+52_158+53insGGGGCGTGCGCAGAGGGACGATCTC		NUDT15	ENSG00000136159.4	transcript	ENST00000258662.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr13	TogoVar
NUDT18_chr8_22101878_22114419	22106419	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	50	0.0200	25	c.88 others(34): Show c.880_*881insTTTTTTTTTTTTTTTTTTTTTTTTT		NUDT18	ENSG00000275074.2	transcript	ENST00000611621.2	protein_coding					458		chr8	TogoVar
NUDT21_chr16_56424133_56456332	56425452	G G	GCTGCCGC others(18): Show GCTGCCGCTGCCGCTGCCGCCGCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18979.hp2 NA18981.hp1 others(4): Show NA18959.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA19081.hp2 NA19082.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	7	412	0.0170	25	c.72 others(36): Show c.7259_*7260insGCGGCGGCGGCAGCGGCAGCGGCAG		NUDT21	ENSG00000167005.14	transcript	ENST00000300291.10	protein_coding					3680		chr16	TogoVar
NUDT2_chr9_34324569_34348699	34338327	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02738.hp1 HG03834.hp2 HG02258.hp1 HG02738.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0188 a0001c0001t0001g0202 a0001c0001t0002g0135 a0001c0001t0001g0188 a0001c0001t0001g0202 a0001c0001t0002g0135	3	31	0.0968	25	c.-15 others(42): Show c.-151-380_-151-356dupAAAAAAAAAAAAAAAAAAAAAAAAA		NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUDT3_chr6_34274679_34397669	34351198	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01257.hp1 HG01981.hp1 others(1): Show HG01074.hp1 HG01257.hp1 HG01981.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0169 a0001c0001t0002g0191 a0001c0001t0002g0255 others(1): Show a0001c0001t0002g0169 a0001c0001t0002g0191 a0001c0001t0002g0255 a0001c0001t0003g0164	4	66	0.0606	25	c.100 others(42): Show c.100-9251_100-9227dupTTTTTTTTTTTTTTTTTTTTTTTTT		NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4						chr6	TogoVar
NUDT3_chr6_34274679_34397669	34351215	A A	AAAAAAAA others(18): Show AAAAAAAAAAACAAAAAAAAAAAACC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0267 a0001c0001t0014g0267	1	259	0.0039	25	c.100 others(42): Show c.100-9244_100-9243insGGTTTTTTTTTTTTGTTTTTTTTTT		NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4						chr6	TogoVar
NUDT3_chr6_34274679_34397669	34351215	A A	AAAAAAAA others(18): Show AAAAAAAAAACCAAAAAAAAAAAACC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0268 a0001c0001t0014g0268	1	259	0.0039	25	c.100 others(42): Show c.100-9244_100-9243insGGTTTTTTTTTTTTGGTTTTTTTTT		NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4						chr6	TogoVar
NUMA1_chr11_71997864_72085542	72049560	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	72	0.0139	25	c.-32 others(44): Show c.-32-13586_-32-13585insATATATATATATATATATATATATA		NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26						chr11	TogoVar
NUMBL_chr19_40660905_40695651	40667996	C C	CTGTTGCT others(18): Show CTGTTGCTGCTGCTGCTGCTGCTGGG	frameshift_variant frameshift_variant	HIGH	NA19072.hp1 NA19072.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0002 a0009c0010t0002	a0009c0010t0002g0094 a0009c0010t0002g0094	1	412	0.0024	25	c.127 others(34): Show c.1277_1301dupCCCAGCAGCAGCAGCAGCAGCAACA	p.Gln others(5): Show p.Gln434fs	NUMBL	ENSG00000105245.9	transcript	ENST00000252891.8	protein_coding	10/10	1469/3561	1301/1830	434/609			chr19	TogoVar
NUP133_chr1_229435259_229513341	229439673	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0116 a0003c0003t0002g0116	1	255	0.0039	25	c.22 others(36): Show c.2230_*2231insTATATATATATATATATATATATAT		NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding					585		chr1	TogoVar
NUP153_chr6_17610037_17711925	17678352	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02896.hp1 HG02897.hp1 HG02559.hp1 HG02896.hp1 HG02897.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0003c0004t0001 a0001c0001t0001 a0001c0001t0003 a0003c0004t0001	a0001c0001t0001g0153 a0001c0001t0003g0033 a0003c0004t0001g0296 a0001c0001t0001g0153 a0001c0001t0003g0033 a0003c0004t0001g0296	3	122	0.0246	25	c.335 others(42): Show c.335-2583_335-2582insTTTTTTTTTTTTTTTTTTTTTTTTT		NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	2/21						chr6	TogoVar
NUP155_chr5_37283137_37376106	37294005	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02004.hp2 NA19067.hp2 HG00673.hp1 HG02004.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0025g0173 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0025g0173	3	130	0.0231	25	c.393 others(42): Show c.3930+323_3930+324insTTTTTTTTTTTTTTTTTTTTTTTTT		NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	33/34						chr5	TogoVar
NUP188_chr9_128942699_129012096	128943405	G G	GACAACAC others(18): Show GACAACACGGGGCCTACACTCTAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	294	0.0034	25	c.-43 others(36): Show c.-4315_-4314insACAACACGGGGCCTACACTCTAGCA		NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding					4293		chr9	TogoVar
NUP188_chr9_128942699_129012096	128984124	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02523.hp1 NA18999.hp1 HG01255.hp2 HG02523.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0021 a0001c0002t0001g0027 a0001c0002t0001g0011 a0001c0002t0001g0021 a0001c0002t0001g0027	3	176	0.0170	25	c.196 others(42): Show c.1961+593_1961+594insTTTTTTTTTTTTTTTTTTTTTTTTT		NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	19/43					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP205_chr7_135552917_135653753	135651808	G G	GCCTGGGC others(18): Show GCCTGGGCAACAGAGCAAGAGTCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(343): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013	a0001c0001 a0001c0002 a0001c0003 others(33): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0020 a0001c0021 a0001c0023 a0001c0025 a0001c0026 a0001c0027 a0001c0029 a0001c0030 a0001c0031 a0001c0034 a0001c0037 a0002c0005 a0002c0006 a0002c0019 a0004c0017 a0005c0012 a0006c0022 a0007c0033 a0008c0028 a0009c0036 a0010c0018 a0011c0024 a0012c0035 a0013c0032	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(36): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0005 a0001c0004t0002 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0013t0001 a0001c0014t0001 a0001c0015t0004 a0001c0016t0001 a0001c0020t0001 a0001c0021t0001 a0001c0023t0001 a0001c0025t0001 a0001c0026t0001 a0001c0027t0001 a0001c0029t0001 a0001c0030t0001 a0001c0031t0001 a0001c0034t0001 a0001c0037t0002 a0002c0005t0001 a0002c0005t0003 a0002c0006t0001 a0002c0019t0001 a0004c0017t0001 a0005c0012t0001 a0006c0022t0001 a0007c0033t0001 a0008c0028t0001 a0009c0036t0001 a0010c0018t0001 a0011c0024t0001 a0012c0035t0001 a0013c0032t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(336): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0001g0234 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0333 a0001c0001t0003g0150 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0046 a0001c0002t0001g0087 a0001c0002t0001g0135 a0001c0002t0001g0149 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0268 a0001c0002t0001g0270 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0291 a0001c0002t0001g0295 a0001c0002t0001g0344 a0001c0002t0001g0345 a0001c0003t0001g0029 a0001c0003t0001g0038 a0001c0003t0001g0041 a0001c0003t0001g0058 a0001c0003t0001g0100 a0001c0003t0001g0124 a0001c0003t0001g0128 a0001c0003t0001g0166 a0001c0003t0001g0206 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0283 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0299 a0001c0003t0001g0300 a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0003t0001g0304 a0001c0003t0001g0305 a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0003t0001g0308 a0001c0003t0001g0309 a0001c0003t0001g0310 a0001c0003t0001g0311 a0001c0003t0001g0312 a0001c0003t0001g0314 a0001c0003t0001g0316 a0001c0003t0001g0317 a0001c0003t0001g0319 a0001c0003t0001g0320 a0001c0003t0001g0321 a0001c0003t0001g0322 a0001c0003t0001g0324 a0001c0003t0001g0326 a0001c0003t0001g0327 a0001c0003t0001g0328 a0001c0003t0001g0329 a0001c0003t0001g0330 a0001c0003t0001g0331 a0001c0003t0001g0332 a0001c0003t0001g0334 a0001c0003t0001g0335 a0001c0003t0001g0336 a0001c0003t0001g0337 a0001c0003t0001g0338 a0001c0003t0001g0341 a0001c0003t0001g0342 a0001c0003t0001g0343 a0001c0003t0005g0178 a0001c0004t0002g0002 a0001c0004t0002g0043 a0001c0004t0002g0044 a0001c0004t0002g0134 a0001c0004t0002g0136 a0001c0004t0002g0137 a0001c0004t0002g0138 a0001c0004t0002g0140 a0001c0004t0002g0142 a0001c0004t0002g0143 a0001c0004t0002g0167 a0001c0004t0002g0184 a0001c0004t0002g0189 a0001c0004t0002g0191 a0001c0004t0002g0194 a0001c0004t0002g0318 a0001c0004t0002g0325 a0001c0004t0002g0340 a0001c0008t0001g0175 a0001c0008t0001g0298 a0001c0008t0001g0301 a0001c0008t0001g0313 a0001c0009t0001g0102 a0001c0009t0001g0111 a0001c0009t0001g0112 a0001c0009t0001g0114 a0001c0010t0001g0004 a0001c0010t0001g0187 a0001c0011t0001g0125 a0001c0011t0001g0131 a0001c0013t0001g0269 a0001c0013t0001g0271 a0001c0014t0001g0227 a0001c0014t0001g0272 a0001c0015t0004g0147 a0001c0015t0004g0148 a0001c0016t0001g0176 a0001c0016t0001g0177 a0001c0020t0001g0118 a0001c0021t0001g0139 a0001c0023t0001g0077 a0001c0025t0001g0282 a0001c0026t0001g0323 a0001c0027t0001g0052 a0001c0029t0001g0161 a0001c0030t0001g0165 a0001c0031t0001g0208 a0001c0034t0001g0133 a0001c0037t0002g0339 a0002c0005t0001g0018 a0002c0005t0001g0019 a0002c0005t0001g0025 a0002c0005t0001g0157 a0002c0005t0003g0151 a0002c0005t0003g0152 a0002c0005t0003g0153 a0002c0005t0003g0154 a0002c0005t0003g0155 a0002c0005t0003g0156 a0002c0005t0003g0158 a0002c0005t0003g0159 a0002c0005t0003g0168 a0002c0006t0001g0010 a0002c0006t0001g0013 a0002c0006t0001g0014 a0002c0006t0001g0015 a0002c0006t0001g0016 a0002c0006t0001g0024 a0002c0006t0001g0086 a0002c0006t0001g0093 a0002c0006t0001g0094 a0002c0006t0001g0095 a0002c0006t0001g0141 a0002c0006t0001g0249 a0002c0019t0001g0020 a0004c0017t0001g0266 a0004c0017t0001g0267 a0005c0012t0001g0059 a0005c0012t0001g0071 a0006c0022t0001g0042 a0007c0033t0001g0257 a0008c0028t0001g0265 a0009c0036t0001g0122 a0010c0018t0001g0101 a0011c0024t0001g0315 a0012c0035t0001g0240 a0013c0032t0001g0022	346	350	0.9886	25	c.32 others(36): Show c.3252_*3253insCCTGGGCAACAGAGCAAGAGTCTGT		NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding					3056		chr7	TogoVar
NUP210L_chr1_153987690_154160073	154032950	G G	GAAGAAAA others(18): Show GAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp2 HG03041.hp2 others(2): Show HG02647.hp2 HG02723.hp2 HG03041.hp2 HG03516.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0079 others(2): Show a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0079 a0001c0001t0001g0094 a0001c0001t0001g0105	5	85	0.0588	25	c.369 others(44): Show c.3697-2921_3697-2897dupTTCTTTTCTTTTCTTTTCTTTTCTT		NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	27/39						chr1	TogoVar
NUP210L_chr1_153987690_154160073	154055123	T T	TTTTCTTT others(18): Show TTTTCTTTCTCTTTCTTTCTTTTCTC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	179	0.0056	25	c.324 others(42): Show c.3241-292_3241-291insGAGAAAAGAAAGAAAGAGAAAGAAA		NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	23/39						chr1	TogoVar
NUP214_chr9_131120586_131239663	131130137	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0195	1	37	0.0270	25	c.593 others(40): Show c.593-616_593-615insTTTTTTTTTTTTTTTTTTTTTTTTT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	4/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131196025	T T	TCCCTCTC others(18): Show TCCCTCTCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0045 a0002c0003t0001g0045	1	26	0.0385	25	c.372 others(42): Show c.3721+734_3721+735insTCTCCCCCCCCCCCCCCCCCCCCCC		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	28/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(18): Show ATTTATTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	21	0.0476	25	c.590 others(42): Show c.5902+800_5902+801insATTTATTTATTTATTTATTTATTTT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(18): Show ATTTATTTATTTATTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	21	0.0476	25	c.590 others(42): Show c.5902+800_5902+801insATTTATTTATTTATTTTATTTTTTT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(18): Show ATTTATTTATTTATTTATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp1 HG00597.hp2 HG00642.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0009 a0002c0002 a0004c0009	a0002c0002t0001 a0004c0009t0001 a0002c0002t0001 a0004c0009t0001	a0002c0002t0001g0078 a0004c0009t0001g0030 a0002c0002t0001g0078 a0004c0009t0001g0030	2	22	0.0909	25	c.590 others(42): Show c.5902+800_5902+801insATTTATTTATTTATTTTTTTTTTTT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(18): Show ATTTATTTATTTATTTTTATTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0041 a0003c0013t0001g0041	1	21	0.0476	25	c.590 others(42): Show c.5902+800_5902+801insATTTATTTATTTTTATTTTTTTTTT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(18): Show ATTTATTTATTTATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01981.hp1 HG02615.hp1 others(3): Show HG01515.hp1 HG01981.hp1 HG02615.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0013 a0001c0001 a0002c0002 a0003c0013	a0001c0001t0001 a0002c0002t0001 a0003c0013t0001 a0001c0001t0001 a0002c0002t0001 a0003c0013t0001	a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0076 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0076 a0001c0001t0001g0102 a0002c0002t0001g0166 a0003c0013t0001g0070	6	26	0.2308	25	c.590 others(42): Show c.5902+800_5902+801insATTTATTTATTTTTTTTTTTTTTTT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(18): Show ATTTATTTATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01433.hp1 HG02135.hp1 others(3): Show HG01081.hp2 HG01433.hp1 HG02135.hp1 HG02293.hp1 NA18983.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0001c0001t0001 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0082 others(3): Show a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0082 a0001c0004t0001g0137 a0001c0004t0001g0197 a0002c0002t0001g0192	6	26	0.2308	25	c.590 others(42): Show c.5902+800_5902+801insATTTATTTTTTTTTTTTTTTTTTTT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(18): Show ATTTATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01993.hp1 HG02056.hp1 others(2): Show HG01516.hp2 HG01993.hp1 HG02056.hp1 NA18944.hp2 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0001 a0002c0002t0001 a0001c0004t0001 a0002c0002t0001	a0001c0004t0001g0201 a0002c0002t0001g0115 a0002c0002t0001g0133 others(2): Show a0001c0004t0001g0201 a0002c0002t0001g0115 a0002c0002t0001g0133 a0002c0002t0001g0145 a0002c0002t0001g0180	5	25	0.2000	25	c.590 others(42): Show c.5902+800_5902+801insATTTTTTTTTTTTTTTTTTTTTTTT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTTTTT others(18): Show ATTTTTTTATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	21	0.0476	25	c.590 others(42): Show c.5902+804_5902+805insATTTTTTTTTTTTTTTTTTTTTTTT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	21	0.0476	25	c.590 others(42): Show c.5902+798_5902+822dupTTTTTTTTTTTTTTTTTTTTTTTTT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP35_chr2_183119443_183166680	183121915	T T	TATTATTA others(18): Show TATTATTATTATTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	72	0.0139	25	c.-25 others(36): Show c.-2543_-2542insATTATTATTATTATTATTATTATTA		NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding					2527		chr2	TogoVar
NUP35_chr2_183119443_183166680	183138269	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	160	0.0063	25	c.397 others(42): Show c.397+4647_397+4648insATATATATATATATATATATATTTT		NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
NUP54_chr4_76109664_76153397	76125827	G G	GGGGAGAG others(18): Show GGGGAGAGAGGGAGAAGGGGAGGAGA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0112 a0001c0001t0004g0112	1	265	0.0038	25	c.105 others(44): Show c.1057-1072_1057-1071insTCTCCTCCCCTTCTCCCTCTCTCCC		NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11						chr4	TogoVar

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