Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
NUDT21_chr16_56424133_56456332	56435743	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03453.hp1 HG02970.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	2	414	0.0048	15	c.472 others(30): Show c.472-915_472-914insTATATATATATATAT	NUDT21	ENSG00000167005.14	transcript	ENST00000300291.10	protein_coding	4/6			chr16	TogoVar
NUDT2_chr9_34324569_34348699	34338327	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	436	0.0023	15	c.-15 others(32): Show c.-151-370_-151-356dupAAAAAAAAAAAAAAA	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUDT3_chr6_34274679_34397669	34287266	A A	AAGGAGAT others(8): Show AAGGAGATGCCACTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18957.hp2 NA20905.hp1 NA18957.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0267 a0001c0001t0017g0268 a0001c0001t0017g0267 a0001c0001t0017g0268	2	270	0.0074	15	c.14 others(26): Show c.1472_*1486dupCCAGTGGCATCTCCT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	5/5	1486		chr6	TogoVar
NUDT3_chr6_34274679_34397669	34297730	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0127 a0001c0001t0039g0127	1	270	0.0037	15	c.211 others(32): Show c.211-2046_211-2045insATATATATATATTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	2/4			chr6	TogoVar
NUDT3_chr6_34274679_34397669	34342289	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	270	0.0037	15	c.100 others(30): Show c.100-332_100-318dupTTTTTTTTTTTTTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUDT3_chr6_34274679_34397669	34351198	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02071.hp2 HG03704.hp1 others(2): Show HG00735.hp1 HG02071.hp2 HG03704.hp1 HG04115.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0029	a0001c0001t0001g0053 a0001c0001t0001g0074 a0001c0001t0002g0243 others(2): Show a0001c0001t0001g0053 a0001c0001t0001g0074 a0001c0001t0002g0243 a0001c0001t0003g0236 a0001c0001t0029g0014	5	270	0.0185	15	c.100 others(32): Show c.100-9241_100-9227dupTTTTTTTTTTTTTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUDT3_chr6_34274679_34397669	34351216	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	270	0.0037	15	c.100 others(32): Show c.100-9245_100-9244insGTTTTTTTTTTTTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUDT4_chr12_93372925_93413146	93382674	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01496.hp1 HG01978.hp1 others(6): Show HG01243.hp1 HG01496.hp1 HG01978.hp1 HG01981.hp1 HG02148.hp1 HG02300.hp2 NA18946.hp2 NA19084.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0009 a0001c0001t0046 a0001c0001t0049 others(5): Show a0001c0001t0009 a0001c0001t0046 a0001c0001t0049 a0001c0001t0051 a0001c0001t0214 a0001c0001t0216 a0001c0001t0217 a0002c0003t0024	a0001c0001t0009g0208 a0001c0001t0009g0235 a0001c0001t0046g0232 others(6): Show a0001c0001t0009g0208 a0001c0001t0009g0235 a0001c0001t0046g0232 a0001c0001t0049g0230 a0001c0001t0051g0234 a0001c0001t0214g0236 a0001c0001t0216g0233 a0001c0001t0217g0231 a0002c0003t0024g0237	9	414	0.0217	15	c.99+ others(30): Show c.99+4259_99+4273dupTTTTTTTTTTTTTTT	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUDT4_chr12_93372925_93413146	93385920	A A	ATATATAG others(8): Show ATATATAGTAAATCTT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0147 a0001c0001t0147	a0001c0001t0147g0266 a0001c0001t0147g0266	1	414	0.0024	15	c.99+ others(30): Show c.99+7505_99+7506insGTAAATCTTTATATA	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUDT4_chr12_93372925_93413146	93402049	A A	AGAAACTG others(8): Show AGAAACTGTGCTGCAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0179 a0001c0001t0179	a0001c0001t0179g0274 a0001c0001t0179g0274	1	414	0.0024	15	c.26 others(26): Show c.2673_*2687dupAACTGTGCTGCATGA	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	5/5	2688	INFO_REALIGN_3_PRIME	chr12	TogoVar
NUDT4_chr12_93372925_93413146	93406275	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0261 a0001c0001t0261	a0001c0001t0261g0075 a0001c0001t0261g0075	1	414	0.0024	15	c.69 others(26): Show c.6912_*6926dupAAAAAAAAAAAAAAA	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	5/5	6927	INFO_REALIGN_3_PRIME	chr12	TogoVar
NUDT5_chr10_12160330_12200891	12200120	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01070.hp1 HG01255.hp1 others(48): Show HG00408.hp2 HG01070.hp1 HG01255.hp1 HG01258.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp2 HG01943.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02080.hp1 HG02132.hp2 HG02155.hp2 HG02273.hp1 HG02293.hp2 HG02896.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 NA18612.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18989.hp1 NA18990.hp2 NA18997.hp1 NA19007.hp2 NA19057.hp1 NA19075.hp1 NA19077.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0002t0001 a0001c0002t0014	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0010 others(40): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0042 a0001c0001t0002g0101 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0118 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0201 a0001c0001t0002g0272 a0001c0001t0002g0281 a0001c0001t0003g0006 a0001c0001t0003g0047 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0303 a0001c0001t0005g0004 a0001c0001t0012g0130 a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0024 a0001c0002t0001g0125 a0001c0002t0001g0240 a0001c0002t0001g0265 a0001c0002t0001g0269 a0001c0002t0001g0279 a0001c0002t0001g0307 a0001c0002t0014g0096	51	394	0.1294	15	c.-44 others(26): Show c.-4407_-4393dupAAAAAAAAAAAAAAA	NUDT5	ENSG00000165609.14	transcript	ENST00000491614.6	protein_coding		4230		chr10	TogoVar
NUDT6_chr4_122887577_122927597	122921611	A A	AAAAAAAC others(8): Show AAAAAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02896.hp1 HG02897.hp1 others(2): Show HG02145.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0001g0084 others(2): Show a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0086	5	368	0.0136	15	c.238 others(30): Show c.238+723_238+724insGTTTGTTTGTTTTTT	NUDT6	ENSG00000170917.14	transcript	ENST00000304430.10	protein_coding	1/4			chr4	TogoVar
NUDT9_chr4_87417573_87464455	87424254	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTGTTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19066.hp2 NA19075.hp2 NA18979.hp2 NA19066.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0054	3	402	0.0075	15	c.107 others(32): Show c.107+1253_107+1254insGTTTTTTTTTTTTTT	NUDT9	ENSG00000170502.13	transcript	ENST00000302174.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
NUFIP2_chr17_29250839_29299148	29272075	A A	AGAGGGGA others(8): Show AGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03927.hp1 NA18963.hp1 others(3): Show HG02071.hp2 HG03927.hp1 NA18963.hp1 NA18966.hp1 NA18970.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0005t0002 a0001c0005t0006 a0001c0005t0025	a0001c0001t0002g0144 a0001c0001t0003g0035 a0001c0001t0013g0051 others(3): Show a0001c0001t0002g0144 a0001c0001t0003g0035 a0001c0001t0013g0051 a0001c0005t0002g0186 a0001c0005t0006g0134 a0001c0005t0025g0185	6	356	0.0169	15	c.200 others(34): Show c.2003-4560_2003-4546dupCCCTCCCCTCCCCTC	NUFIP2	ENSG00000108256.9	transcript	ENST00000225388.9	protein_coding	2/3			chr17	TogoVar
NUMA1_chr11_71997864_72085542	72049560	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02897.hp2 HG02922.hp1 others(5): Show HG02622.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp2 NA18522.hp2 NA18906.hp2 NA20300.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0003 a0009c0034 a0001c0001 a0001c0003 a0009c0034	a0001c0001t0001 a0001c0003t0001 a0009c0034t0001 a0001c0001t0001 a0001c0003t0001 a0009c0034t0001	a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0223 others(5): Show a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0148 a0009c0034t0001g0227	8	244	0.0328	15	c.-32 others(34): Show c.-32-13586_-32-13585insATATATATATATATA	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMA1_chr11_71997864_72085542	72049583	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01106.hp2 HG02559.hp1 others(4): Show HG00544.hp1 HG01106.hp2 HG02559.hp1 HG02723.hp2 HG04115.hp2 NA18980.hp1 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0035 a0003c0004 a0001c0001 a0001c0035 a0003c0004	a0001c0001t0001 a0001c0035t0001 a0003c0004t0001 a0001c0001t0001 a0001c0035t0001 a0003c0004t0001	a0001c0001t0001g0091 a0001c0001t0001g0107 a0001c0001t0001g0118 others(4): Show a0001c0001t0001g0091 a0001c0001t0001g0107 a0001c0001t0001g0118 a0001c0001t0001g0177 a0001c0001t0001g0196 a0001c0035t0001g0128 a0003c0004t0001g0027	7	244	0.0287	15	c.-32 others(34): Show c.-32-13609_-32-13608insATATATATATATATA	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMA1_chr11_71997864_72085542	72049587	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02132.hp1 HG02056.hp1 HG02132.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0023 a0001c0001 a0013c0023	a0001c0001t0001 a0013c0023t0001 a0001c0001t0001 a0013c0023t0001	a0001c0001t0001g0124 a0013c0023t0001g0102 a0001c0001t0001g0124 a0013c0023t0001g0102	2	244	0.0082	15	c.-32 others(34): Show c.-32-13613_-32-13612insTATATATATATATAT	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMA1_chr11_71997864_72085542	72056635	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0219 a0001c0013t0001g0219	1	244	0.0041	15	c.-33 others(34): Show c.-33+13192_-33+13206dupTTTTTTTTTTTTTTT	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMA1_chr11_71997864_72085542	72073048	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	244	0.0041	15	c.-10 others(34): Show c.-102-3152_-102-3138dupTTTTTTTTTTTTTTT	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	1/26			chr11	TogoVar
NUMBL_chr19_40660905_40695651	40695326	A A	AAAAAAAA others(8): Show AAAAAAAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00597.hp1 others(167): Show HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01258.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp2 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19043.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19067.hp1 NA19074.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0003 a0001c0009 others(3): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0003c0004 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0003t0003 a0001c0003t0014 a0001c0003t0018 a0001c0009t0001 a0002c0002t0002 a0002c0002t0003 a0003c0004t0006 a0007c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0022 others(125): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0129 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0003g0245 a0001c0001t0004g0039 a0001c0001t0004g0048 a0001c0001t0004g0054 a0001c0001t0004g0061 a0001c0001t0004g0128 a0001c0001t0004g0178 a0001c0001t0004g0180 a0001c0001t0004g0232 a0001c0001t0004g0234 a0001c0001t0004g0250 a0001c0001t0004g0276 a0001c0001t0005g0059 a0001c0001t0005g0268 a0001c0001t0006g0236 a0001c0001t0008g0015 a0001c0001t0008g0130 a0001c0001t0008g0265 a0001c0001t0008g0266 a0001c0001t0010g0046 a0001c0001t0010g0224 a0001c0001t0012g0246 a0001c0001t0012g0247 a0001c0001t0016g0283 a0001c0001t0024g0237 a0001c0001t0026g0218 a0001c0001t0027g0240 a0001c0003t0003g0008 a0001c0003t0003g0010 a0001c0003t0003g0016 a0001c0003t0003g0017 a0001c0003t0003g0018 a0001c0003t0003g0019 a0001c0003t0003g0034 a0001c0003t0003g0035 a0001c0003t0003g0131 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0003g0135 a0001c0003t0003g0137 a0001c0003t0003g0138 a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0003t0003g0142 a0001c0003t0003g0143 a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 a0001c0003t0003g0148 a0001c0003t0003g0149 a0001c0003t0003g0150 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0159 a0001c0003t0003g0160 a0001c0003t0003g0161 a0001c0003t0003g0163 a0001c0003t0003g0168 a0001c0003t0003g0282 a0001c0003t0014g0156 a0001c0003t0014g0162 a0001c0003t0018g0158 a0001c0009t0001g0285 a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0009 a0002c0002t0002g0031 a0002c0002t0002g0079 a0002c0002t0002g0107 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0258 a0002c0002t0002g0263 a0002c0002t0003g0058 a0003c0004t0006g0205 a0007c0014t0001g0238	170	414	0.4106	15	c.-48 others(26): Show c.-4858_-4844dupCTTTTCTTTTTTTTT	NUMBL	ENSG00000105245.9	transcript	ENST00000252891.8	protein_coding		4676		chr19	TogoVar
NUMBL_chr19_40660905_40695651	40695326	A A	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01175.hp1 HG01496.hp1 others(1): Show HG00639.hp2 HG01175.hp1 HG01496.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0241 a0001c0001t0004g0223 a0001c0001t0007g0043 others(1): Show a0001c0001t0001g0241 a0001c0001t0004g0223 a0001c0001t0007g0043 a0001c0001t0007g0200	4	414	0.0097	15	c.-48 others(26): Show c.-4844_-4843insCTTTTCTTTTCTTTT	NUMBL	ENSG00000105245.9	transcript	ENST00000252891.8	protein_coding		4676		chr19	TogoVar
NUMB_chr14_73270216_73463546	73313668	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03195.hp1 HG03098.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0010 a0001c0001t0006g0011 a0001c0001t0001g0010 a0001c0001t0006g0011	2	322	0.0062	15	c.234 others(32): Show c.234+2707_234+2721dupTTTTTTTTTTTTTTT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	6/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73353072	G G	GTTTTTCT others(8): Show GTTTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00597.hp2 others(25): Show HG00423.hp1 HG00597.hp1 HG00597.hp2 HG01081.hp1 HG01261.hp2 HG01934.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02148.hp1 HG02647.hp2 HG03927.hp2 NA18939.hp2 NA18955.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18971.hp2 NA18978.hp1 NA18980.hp1 NA18999.hp1 NA19002.hp2 NA19009.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0004t0002 a0001c0001t0002 a0001c0001t0004 a0001c0004t0002	a0001c0001t0002g0145 a0001c0001t0002g0150 a0001c0001t0002g0161 others(25): Show a0001c0001t0002g0145 a0001c0001t0002g0150 a0001c0001t0002g0161 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0184 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0221 a0001c0001t0002g0227 a0001c0001t0002g0232 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0004g0165 a0001c0001t0004g0195 a0001c0001t0004g0200 a0001c0001t0004g0208 a0001c0001t0004g0222 a0001c0004t0002g0163	28	322	0.0870	15	c.126 others(32): Show c.126+2553_126+2554insAAAAAAAAAGAAAAA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73353072	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	322	0.0031	15	c.126 others(32): Show c.126+2539_126+2553dupAAAAAAAAAAAAAAA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73354827	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00438.hp1 others(94): Show HG00140.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01175.hp2 HG01256.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp2 HG02683.hp1 HG02738.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG03225.hp1 HG03239.hp1 HG03492.hp2 HG03540.hp2 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18954.hp1 NA18955.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19078.hp1 NA19081.hp2 NA19082.hp2 NA19086.hp1 NA19240.hp2 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003 a0001c0002t0009 a0001c0004t0002 a0001c0005t0002 a0001c0006t0002	a0001c0001t0001g0198 a0001c0001t0001g0224 a0001c0001t0001g0257 others(94): Show a0001c0001t0001g0198 a0001c0001t0001g0224 a0001c0001t0001g0257 a0001c0001t0001g0266 a0001c0001t0001g0306 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0243 a0001c0001t0002g0254 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0003g0002 a0001c0001t0003g0030 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0052 a0001c0001t0003g0057 a0001c0001t0003g0068 a0001c0001t0003g0083 a0001c0001t0003g0238 a0001c0001t0003g0261 a0001c0001t0004g0165 a0001c0001t0004g0195 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0208 a0001c0001t0004g0217 a0001c0001t0004g0222 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0239 a0001c0002t0003g0251 a0001c0002t0009g0252 a0001c0004t0002g0157 a0001c0004t0002g0158 a0001c0004t0002g0163 a0001c0005t0002g0194 a0001c0005t0002g0234 a0001c0006t0002g0258	97	322	0.3012	15	c.126 others(30): Show c.126+798_126+799insTTTTTTTTTTTTTTT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73389272	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	322	0.0031	15	c.-10 others(36): Show c.-101+20650_-101+20664dupTTTTTTTTTTTTTTT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUP133_chr1_229435259_229513341	229439672	A A	ATATATAT others(8): Show ATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0216 a0002c0002t0002g0216	1	276	0.0036	15	c.22 others(26): Show c.2231_*2232insAAAAATATATATATA	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding		586		chr1	TogoVar
NUP133_chr1_229435259_229513341	229449873	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0108 a0003c0003t0004g0108	1	276	0.0036	15	c.318 others(32): Show c.3180+651_3180+652insAAAAATATATATATA	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	23/25			chr1	TogoVar
NUP133_chr1_229435259_229513341	229449873	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02717.hp1 HG01243.hp1 HG02717.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0111 a0003c0003t0004g0112 a0003c0003t0004g0111 a0003c0003t0004g0112	2	276	0.0073	15	c.318 others(32): Show c.3180+651_3180+652insAAAAAAATATATATA	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	23/25			chr1	TogoVar
NUP153_chr6_17610037_17711925	17665052	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(79): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01255.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp2 HG02486.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03654.hp1 HG03927.hp1 HG04184.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18945.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18956.hp2 NA18957.hp1 NA18962.hp2 NA18965.hp1 NA18968.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18994.hp1 NA19002.hp1 NA19062.hp2 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19085.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(6): Show a0001 a0003 a0005 a0006 a0013 a0016 a0017 a0018 a0019	a0001c0001 a0001c0003 a0001c0009 others(12): Show a0001c0001 a0001c0003 a0001c0009 a0001c0011 a0001c0016 a0001c0021 a0003c0004 a0005c0006 a0006c0007 a0006c0022 a0013c0030 a0016c0020 a0017c0031 a0018c0019 a0019c0018	a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 others(22): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0003t0022 a0001c0009t0001 a0001c0009t0011 a0001c0011t0003 a0001c0016t0001 a0001c0016t0003 a0001c0021t0001 a0003c0004t0001 a0005c0006t0001 a0005c0006t0003 a0005c0006t0006 a0005c0006t0010 a0006c0007t0001 a0006c0022t0001 a0013c0030t0001 a0016c0020t0001 a0017c0031t0001 a0018c0019t0003 a0019c0018t0001	a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0174 others(79): Show a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0007g0182 a0001c0001t0017g0120 a0001c0003t0001g0108 a0001c0003t0001g0118 a0001c0003t0001g0123 a0001c0003t0001g0126 a0001c0003t0001g0128 a0001c0003t0001g0130 a0001c0003t0001g0135 a0001c0003t0001g0137 a0001c0003t0001g0139 a0001c0003t0001g0141 a0001c0003t0001g0148 a0001c0003t0001g0150 a0001c0003t0001g0154 a0001c0003t0001g0209 a0001c0003t0001g0259 a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0270 a0001c0003t0003g0024 a0001c0003t0003g0025 a0001c0003t0003g0032 a0001c0003t0008g0132 a0001c0003t0008g0133 a0001c0003t0022g0316 a0001c0009t0001g0143 a0001c0009t0001g0153 a0001c0009t0001g0165 a0001c0009t0001g0168 a0001c0009t0011g0001 a0001c0011t0003g0003 a0001c0016t0001g0208 a0001c0016t0003g0034 a0001c0021t0001g0102 a0003c0004t0001g0084 a0003c0004t0001g0256 a0003c0004t0001g0294 a0005c0006t0001g0279 a0005c0006t0001g0280 a0005c0006t0001g0282 a0005c0006t0001g0286 a0005c0006t0001g0287 a0005c0006t0001g0288 a0005c0006t0001g0289 a0005c0006t0001g0290 a0005c0006t0001g0291 a0005c0006t0001g0292 a0005c0006t0001g0304 a0005c0006t0003g0037 a0005c0006t0006g0312 a0005c0006t0006g0313 a0005c0006t0006g0314 a0005c0006t0010g0310 a0005c0006t0010g0311 a0006c0007t0001g0107 a0006c0007t0001g0110 a0006c0007t0001g0111 a0006c0007t0001g0112 a0006c0007t0001g0113 a0006c0007t0001g0114 a0006c0007t0001g0116 a0006c0007t0001g0117 a0006c0007t0001g0119 a0006c0007t0001g0121 a0006c0007t0001g0124 a0006c0007t0001g0127 a0006c0007t0001g0129 a0006c0007t0001g0193 a0006c0007t0001g0258 a0006c0022t0001g0163 a0013c0030t0001g0142 a0016c0020t0001g0195 a0017c0031t0001g0104 a0018c0019t0003g0035 a0019c0018t0001g0281	82	316	0.2595	15	c.121 others(32): Show c.1215+186_1215+187insTTTTTTTTTTTTTTT	NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	9/21			chr6	TogoVar
NUP153_chr6_17610037_17711925	17678352	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp2 HG03516.hp2 others(1): Show HG02451.hp2 HG02717.hp2 HG03516.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0003 a0001c0009t0011 a0001c0001t0001 a0001c0009t0003 a0001c0009t0011	a0001c0001t0001g0155 a0001c0001t0001g0166 a0001c0009t0003g0018 others(1): Show a0001c0001t0001g0155 a0001c0001t0001g0166 a0001c0009t0003g0018 a0001c0009t0011g0001	4	316	0.0127	15	c.335 others(32): Show c.335-2597_335-2583dupTTTTTTTTTTTTTTT	NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	2/21			chr6	TogoVar
NUP153_chr6_17610037_17711925	17701832	C C	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0003 a0001c0011t0003g0003	1	316	0.0032	15	c.111 others(32): Show c.111+4444_111+4445insCCCCCCCCCCCCCCC	NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	1/21			chr6	TogoVar
NUP155_chr5_37283137_37376106	37294005	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01167.hp2 HG01515.hp1 HG00642.hp1 HG01167.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0012g0092 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0012g0092	3	300	0.0100	15	c.393 others(32): Show c.3930+309_3930+323dupTTTTTTTTTTTTTTT	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	33/34			chr5	TogoVar
NUP160_chr11_47773118_47853350	47782289	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	338	0.0030	15	c.401 others(32): Show c.4014+769_4014+783dupTTTTTTTTTTTTTTT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47803142	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02083.hp1 HG02257.hp2 others(5): Show HG01433.hp2 HG02083.hp1 HG02257.hp2 HG03491.hp1 HG03492.hp2 HG04204.hp2 NA19088.hp1 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0001 a0002c0002t0001g0026 a0002c0002t0001g0083 others(4): Show a0002c0002t0001g0001 a0002c0002t0001g0026 a0002c0002t0001g0083 a0002c0002t0001g0096 a0002c0002t0001g0117 a0003c0003t0001g0006 a0003c0003t0001g0013	8	338	0.0237	15	c.267 others(32): Show c.2673+281_2673+295dupATTATTATTATTATT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	22/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47831894	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03130.hp1 HG02723.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0336 a0001c0001t0001g0337	2	338	0.0059	15	c.999 others(32): Show c.999+3742_999+3756dupAAAAAAAAAAAAAAA	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	7/35			chr11	TogoVar
NUP188_chr9_128942699_129012096	128959527	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0287 a0001c0001t0004g0287	1	296	0.0034	15	c.585 others(30): Show c.585+399_585+413dupTTTTTTTTTTTTTTT	NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	8/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP188_chr9_128942699_129012096	128984124	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18979.hp2 HG02040.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0038 a0001c0002t0001g0020 a0001c0001t0001g0038 a0001c0002t0001g0020	2	296	0.0068	15	c.196 others(32): Show c.1961+579_1961+593dupTTTTTTTTTTTTTTT	NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	19/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP205_chr7_135552917_135653753	135570756	T T	TTATATAT others(8): Show TTATATATTATATTAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	352	0.0028	15	c.29- others(28): Show c.29-339_29-325dupTATTAATATATATTA	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP210L_chr1_153987690_154160073	154032950	G G	GAAGAAAA others(8): Show GAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02647.hp1 HG02886.hp1 others(7): Show HG00673.hp2 HG02647.hp1 HG02886.hp1 HG03098.hp2 HG03834.hp2 HG04199.hp1 NA18942.hp1 NA18977.hp1 NA19043.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0083 others(7): Show a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0285	10	290	0.0345	15	c.369 others(34): Show c.3697-2911_3697-2897dupTTCTTTTCTTTTCTT	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	27/39			chr1	TogoVar
NUP210L_chr1_153987690_154160073	154055176	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02895.hp2 HG03942.hp2 others(2): Show HG01123.hp1 HG02895.hp2 HG03942.hp2 NA19064.hp1 NA19090.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0018 a0002c0002 a0008c0018	a0002c0002t0001 a0008c0018t0001 a0002c0002t0001 a0008c0018t0001	a0002c0002t0001g0130 a0002c0002t0001g0184 a0002c0002t0001g0187 others(2): Show a0002c0002t0001g0130 a0002c0002t0001g0184 a0002c0002t0001g0187 a0002c0002t0001g0190 a0008c0018t0001g0280	5	290	0.0172	15	c.324 others(32): Show c.3241-345_3241-344insGAAAGAAAGAAAGAA	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	23/39			chr1	TogoVar
NUP210L_chr1_153987690_154160073	154140666	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	290	0.0035	15	c.567 others(30): Show c.567-715_567-714insTTTTTTTTTTTTTTT	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	4/39			chr1	TogoVar
NUP210L_chr1_153987690_154160073	154149087	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp1 others(73): Show HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01106.hp2 HG01256.hp1 HG01257.hp2 HG01346.hp1 HG01517.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02809.hp1 HG02895.hp2 HG03098.hp1 HG03130.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18906.hp2 NA18952.hp1 NA18957.hp2 NA18960.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18981.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19007.hp1 NA19011.hp1 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2	a0001 a0002 a0006 others(5): Show a0001 a0002 a0006 a0007 a0008 a0009 a0013 a0014	a0001c0001 a0002c0002 a0002c0013 others(6): Show a0001c0001 a0002c0002 a0002c0013 a0006c0007 a0007c0019 a0008c0018 a0009c0010 a0013c0015 a0014c0020	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(7): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0013t0001 a0006c0007t0001 a0007c0019t0001 a0008c0018t0001 a0009c0010t0001 a0013c0015t0001 a0014c0020t0001	a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0078 others(73): Show a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0172 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0279 a0002c0002t0001g0001 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0173 a0002c0002t0001g0182 a0002c0002t0001g0185 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0195 a0002c0002t0002g0126 a0002c0013t0001g0147 a0006c0007t0001g0157 a0006c0007t0001g0158 a0007c0019t0001g0281 a0008c0018t0001g0280 a0009c0010t0001g0146 a0013c0015t0001g0163 a0014c0020t0001g0290	76	290	0.2621	15	c.340 others(32): Show c.340+3648_340+3649insAAAAAAAAAAAAAAA	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	2/39			chr1	TogoVar
NUP210_chr3_13311235_13425322	13401259	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(43): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00621.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01169.hp2 HG01257.hp2 HG01261.hp2 HG01433.hp1 HG01517.hp2 HG01934.hp1 HG02004.hp1 HG02015.hp1 HG02523.hp2 HG02976.hp2 HG03017.hp1 HG03195.hp2 HG03491.hp2 HG03710.hp1 HG03834.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp2 NA18953.hp2 NA18954.hp2 NA18962.hp1 NA18964.hp1 NA18969.hp2 NA18973.hp1 NA18984.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18999.hp2 NA19012.hp1 NA19074.hp1 NA19090.hp1 NA20905.hp1	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0016 a0023	a0002c0002 a0003c0005 a0005c0003 others(2): Show a0002c0002 a0003c0005 a0005c0003 a0016c0025 a0023c0026	a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 others(4): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0003c0005t0005 a0005c0003t0001 a0016c0025t0001 a0023c0026t0011	a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0214 others(43): Show a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0214 a0002c0002t0001g0217 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0228 a0002c0002t0001g0230 a0002c0002t0001g0246 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0255 a0002c0002t0001g0282 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0004g0205 a0002c0002t0004g0250 a0002c0002t0004g0251 a0002c0002t0004g0252 a0002c0002t0004g0253 a0002c0002t0004g0254 a0002c0002t0004g0285 a0002c0002t0004g0289 a0002c0002t0004g0320 a0002c0002t0007g0209 a0002c0002t0007g0236 a0002c0002t0007g0309 a0002c0002t0007g0314 a0003c0005t0005g0278 a0005c0003t0001g0215 a0005c0003t0001g0234 a0005c0003t0001g0242 a0005c0003t0001g0245 a0005c0003t0001g0247 a0005c0003t0001g0281 a0005c0003t0001g0292 a0005c0003t0001g0293 a0005c0003t0001g0294 a0005c0003t0001g0295 a0005c0003t0001g0296 a0005c0003t0001g0297 a0005c0003t0001g0301 a0005c0003t0001g0313 a0016c0025t0001g0232 a0023c0026t0011g0290	46	326	0.1411	15	c.168 others(32): Show c.168-1413_168-1399dupTTTTTTTTTTTTTTT	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding	1/39			chr3	TogoVar
NUP214_chr9_131120586_131239663	131130137	G G	GTTTTGTT others(8): Show GTTTTGTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0134 a0002c0002t0001g0134	1	234	0.0043	15	c.593 others(30): Show c.593-625_593-624insGTTTTGTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	4/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131130137	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG01361.hp1 others(13): Show HG00408.hp2 HG00544.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02922.hp1 HG03017.hp2 HG03491.hp1 HG03927.hp2 NA18969.hp2 NA19000.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 a0002c0002t0001	a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0004t0001g0131 others(13): Show a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0004t0001g0131 a0001c0004t0001g0165 a0001c0006t0001g0168 a0001c0006t0001g0169 a0002c0002t0001g0133 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0172 a0002c0002t0001g0222 a0002c0002t0001g0223	16	234	0.0684	15	c.593 others(30): Show c.593-616_593-615insTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	4/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131193629	C C	CTTTTTTT others(8): Show CTTTTTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0186 a0003c0011t0001g0186	1	234	0.0043	15	c.365 others(34): Show c.3659+1344_3659+1345insCTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	27/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131193629	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG01891.hp1 others(3): Show HG00558.hp2 HG00609.hp2 HG01891.hp1 HG01993.hp1 HG02723.hp1 NA18953.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0002c0003t0001	a0001c0001t0001g0090 a0001c0004t0001g0140 a0002c0002t0001g0135 others(3): Show a0001c0001t0001g0090 a0001c0004t0001g0140 a0002c0002t0001g0135 a0002c0002t0001g0142 a0002c0002t0001g0178 a0002c0003t0001g0075	6	234	0.0256	15	c.365 others(34): Show c.3659+1356_3659+1370dupTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	27/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131196025	T T	TCCCCCCC others(8): Show TCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0005 a0006c0012t0001g0005	1	234	0.0043	15	c.372 others(32): Show c.3721+745_3721+746insCCCCCCCCCCCCCCC	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	28/35		INFO_REALIGN_3_PRIME	chr9	TogoVar

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