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
NRXN1_chr2_49913503_51037132	50539069	T T	TTTGATTG others(15): Show TTTGATTGATTTAACTATTTAAC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0067 a0001c0001t0058g0067	1	116	0.0086	22	c.176 others(39): Show c.1760-434_1760-433insGTTAAATAGTTAAATCAATCAA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	9/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50610642	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp2 HG01517.hp2 others(1): Show HG00438.hp2 HG00738.hp2 HG01517.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0011 a0001c0001t0024 others(1): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0024 a0001c0002t0007	a0001c0001t0004g0011 a0001c0001t0011g0115 a0001c0001t0024g0014 others(1): Show a0001c0001t0004g0011 a0001c0001t0011g0115 a0001c0001t0024g0014 a0001c0002t0007g0089	4	116	0.0345	22	c.132 others(41): Show c.1320+9358_1320+9379dupATATATATATATATATATATAT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	8/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50658411	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02109.hp2 HG02145.hp1 others(4): Show HG02074.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02559.hp1 HG02896.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0043 a0001c0001t0052 a0001c0002t0002 others(4): Show a0001c0001t0043 a0001c0001t0052 a0001c0002t0002 a0001c0002t0008 a0001c0002t0010 a0001c0002t0054 a0001c0003t0051	a0001c0001t0043g0056 a0001c0001t0052g0043 a0001c0002t0002g0086 others(4): Show a0001c0001t0043g0056 a0001c0001t0052g0043 a0001c0002t0002g0086 a0001c0002t0008g0091 a0001c0002t0010g0095 a0001c0002t0054g0092 a0001c0003t0051g0034	7	116	0.0603	22	c.833 others(41): Show c.833-34818_833-34797dupACACACACACACACACACACAC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03195.hp1 HG03225.hp1 others(5): Show HG01109.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG06807.hp1 NA18948.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010	a0001c0001t0002 a0001c0001t0035 a0001c0001t0036 others(5): Show a0001c0001t0002 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0061 a0001c0002t0050 a0001c0004t0038 a0001c0010t0063	a0001c0001t0002g0047 a0001c0001t0035g0061 a0001c0001t0036g0062 others(5): Show a0001c0001t0002g0047 a0001c0001t0035g0061 a0001c0001t0036g0062 a0001c0001t0039g0044 a0001c0001t0061g0074 a0001c0002t0050g0107 a0001c0004t0038g0085 a0001c0010t0063g0059	8	116	0.0690	22	c.833 others(41): Show c.833-60032_833-60031insATATATATTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0081 a0001c0001t0013g0081	1	116	0.0086	22	c.833 others(41): Show c.833-60032_833-60031insATATATATATATTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50865580	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18950.hp2 HG02074.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0028 a0001c0001t0015g0037 a0001c0001t0001g0028 a0001c0001t0015g0037	2	116	0.0172	22	c.832 others(41): Show c.832+56267_832+56288dupCACACACACACACACACACACA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN3_chr14_78165373_79873291	78235000	A A	ATATATAT others(15): Show ATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0016 a0001c0002t0011g0016	1	24	0.0417	22	c.-70 others(41): Show c.-703-7372_-703-7371insGTGTATATATATATATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	78456859	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTTTCTCTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	1	24	0.0417	22	c.757 others(43): Show c.757+159000_757+159001insTTCTTTCTTTCTTTTTCTCTTT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	78510040	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19240.hp2 HG03486.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0018 a0001c0001t0010g0006 a0001c0001t0002g0018 a0001c0001t0010g0006	2	24	0.0833	22	c.758 others(43): Show c.758-135061_758-135060insATATATATATATATATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79034349	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19043.hp1 HG01884.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0007 a0001c0003t0009 a0001c0002t0007 a0001c0003t0009	a0001c0002t0007g0009 a0001c0003t0009g0024 a0001c0002t0007g0009 a0001c0003t0009g0024	2	24	0.0833	22	c.326 others(43): Show c.3262+46216_3262+46237dupCACACACACACACACACACACA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79560504	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0008	1	24	0.0417	22	c.344 others(43): Show c.3444+93105_3444+93126dupTTTTTTTTTTTTTTTTTTTTTT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79565212	T T	TATATATG others(15): Show TATATATGTGTGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp1 HG03486.hp2 others(1): Show HG01081.hp1 HG01884.hp1 HG03486.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0002 a0001c0003t0009 a0001c0004t0005 others(1): Show a0001c0001t0002 a0001c0003t0009 a0001c0004t0005 a0002c0005t0005	a0001c0001t0002g0018 a0001c0003t0009g0024 a0001c0004t0005g0003 others(1): Show a0001c0001t0002g0018 a0001c0003t0009g0024 a0001c0004t0005g0003 a0002c0005t0005g0002	4	24	0.1667	22	c.344 others(43): Show c.3444+97838_3444+97859dupTGTGTGTGTATATATACATATA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79637729	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0008	1	24	0.0417	22	c.344 others(43): Show c.3445-26031_3445-26030insTTTTTTTTTTTTTTTTTTTTTT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79719402	G G	GTATATAT others(15): Show GTATATATATGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	24	0.0417	22	c.401 others(43): Show c.4014+21474_4014+21475insGTGTGTATATATATATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSD1_chr5_177128773_177305213	177185880	A A	ATATATAA others(15): Show ATATATAATATATTTATATATTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG02896.hp2 others(1): Show HG02630.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0021 a0005c0008t0062 a0005c0008t0021 a0005c0008t0062	a0005c0008t0021g0142 a0005c0008t0021g0143 a0005c0008t0021g0145 others(1): Show a0005c0008t0021g0142 a0005c0008t0021g0143 a0005c0008t0021g0145 a0005c0008t0062g0144	4	298	0.0134	22	c.928 others(39): Show c.928-5995_928-5974dupATATTTATATATTTTATATAAT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177185910	T T	TTATATAT others(15): Show TTATATATATTTATATATATAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0058 a0001c0005t0058	a0001c0005t0058g0024 a0001c0005t0058g0024	1	298	0.0034	22	c.928 others(39): Show c.928-5971_928-5950dupTATATATTTATATATATAAATA	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD2_chr4_1866393_1987192	1872591	T T	TGTGAGAG others(15): Show TGTGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	130	0.0077	22	c.-30 others(39): Show c.-30+1050_-30+1051insTGAGAGAGAGAGAGAGAGAGAG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSD2_chr4_1866393_1987192	1872591	T T	TGTGTGTG others(15): Show TGTGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	130	0.0077	22	c.-30 others(39): Show c.-30+1050_-30+1051insTGTGTGTGAGAGAGAGAGAGAG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSMCE1_chr16_27219994_27273772	27251159	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18997.hp2 NA18964.hp2 NA18997.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0065 a0002c0002t0001g0042 a0002c0002t0001g0065	2	334	0.0060	22	c.136 others(39): Show c.136+6254_136+6275dupATATATATATATATATATATAT	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7			chr16	TogoVar
NSMCE1_chr16_27219994_27273772	27251189	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03209.hp1 NA18943.hp1 others(2): Show HG02080.hp2 HG03209.hp1 NA18943.hp1 NA19043.hp2 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0044 others(2): Show a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0070	5	334	0.0150	22	c.136 others(39): Show c.136+6245_136+6246insTTATATATATATATATATATAT	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7			chr16	TogoVar
NSMCE1_chr16_27219994_27273772	27271559	G G	GCGCGCGC others(15): Show GCGCGCGCACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0142 a0003c0004t0001g0142	1	334	0.0030	22	c.-28 others(33): Show c.-2866_-2865insTGTGTGTGTGTGTGTGCGCGCG	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding		2788		chr16	TogoVar
NSMCE1_chr16_27219994_27273772	27271559	G G	GCGCGCGC others(15): Show GCGCGCGCGCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0141 a0003c0004t0001g0141	1	334	0.0030	22	c.-28 others(33): Show c.-2866_-2865insTGTGTGTGTGTGTGCGCGCGCG	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding		2788		chr16	TogoVar
NSMCE1_chr16_27219994_27273772	27271559	G G	GCGCGCGC others(15): Show GCGCGCGCGCGCACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0149 a0003c0004t0002g0149	1	334	0.0030	22	c.-28 others(33): Show c.-2866_-2865insTGTGTGTGTGTGCGCGCGCGCG	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding		2788		chr16	TogoVar
NSMCE2_chr8_125086860_125372120	125183634	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp2 HG03209.hp1 HG02622.hp2 HG02922.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0016 a0001c0001t0001g0050 a0001c0001t0001g0051	3	244	0.0123	22	c.418 others(39): Show c.418+1385_418+1406dupGTGTGTGTGTGTGTGTGTGTGT	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125367509	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	244	0.0041	22	c.62 others(31): Show c.624_*625insAAAAAAAAAAAAAAAAAAAAAA	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding		390		chr8	TogoVar
NSRP1_chr17_30111816_30191475	30122385	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	282	0.0036	22	c.114 others(39): Show c.114+4213_114+4214insATATATATATATATATATATTT	NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NSUN2_chr5_6594239_6638044	6611448	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0123 a0001c0003t0001g0123	1	438	0.0023	22	c.109 others(39): Show c.1095+276_1095+277insTTTTTTTTTTTTTTTTTTTTTT	NSUN2	ENSG00000037474.15	transcript	ENST00000264670.11	protein_coding	10/18			chr5	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03490.hp2 HG03942.hp2 HG00140.hp2 HG03490.hp2 HG03942.hp2	a0003 a0008 a0003 a0008	a0003c0003 a0008c0009 a0003c0003 a0008c0009	a0003c0003t0006 a0008c0009t0014 a0003c0003t0006 a0008c0009t0014	a0003c0003t0006g0083 a0003c0003t0006g0159 a0008c0009t0014g0079 a0003c0003t0006g0083 a0003c0003t0006g0159 a0008c0009t0014g0079	3	388	0.0077	22	c.754 others(37): Show c.754-454_754-453insAAAAAAAAAAAATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02738.hp1 HG00735.hp2 HG02738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0014 a0003c0003t0003 a0003c0003t0014	a0003c0003t0003g0171 a0003c0003t0014g0149 a0003c0003t0003g0171 a0003c0003t0014g0149	2	388	0.0052	22	c.754 others(37): Show c.754-454_754-453insAAAAAAAAAATATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02109.hp1 NA19043.hp2 HG01069.hp2 HG02109.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0029 a0001c0001t0030 a0001c0001t0021 a0001c0001t0029 a0001c0001t0030	a0001c0001t0021g0140 a0001c0001t0029g0128 a0001c0001t0030g0127 a0001c0001t0021g0140 a0001c0001t0029g0128 a0001c0001t0030g0127	3	388	0.0077	22	c.754 others(37): Show c.754-454_754-453insAAAAAAAATATATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	346	0.0029	22	c.658 others(39): Show c.658-4615_658-4614insATATATATATATATATATTTTT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600959	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	346	0.0029	22	c.658 others(39): Show c.658-4633_658-4632insGTGTATATATATATATATATAT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600959	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	346	0.0029	22	c.658 others(39): Show c.658-4633_658-4632insGTATATATATATATATATATAT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NT5C2_chr10_103083038_103198272	103183262	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03098.hp2 HG03225.hp1 others(1): Show HG03041.hp2 HG03098.hp2 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0309 a0001c0002t0005g0311 a0001c0002t0005g0312 others(1): Show a0001c0002t0005g0309 a0001c0002t0005g0311 a0001c0002t0005g0312 a0001c0002t0005g0313	4	340	0.0118	22	c.-16 others(41): Show c.-168-1956_-168-1935dupATATATATATATATATATATAT	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	1/18			chr10	TogoVar
NT5DC1_chr6_116095853_116254497	116163141	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	300	0.0033	22	c.529 others(41): Show c.529+45197_529+45218dupATATATATATATATATATATAT	NT5DC1	ENSG00000178425.14	transcript	ENST00000319550.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
NT5DC1_chr6_116095853_116254497	116182222	A A	AGAGAGAG others(15): Show AGAGAGAGAGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0232 a0001c0001t0020g0232	1	300	0.0033	22	c.530 others(41): Show c.530-38831_530-38830insAGAGAGAGTGTGTGTGTGTGTG	NT5DC1	ENSG00000178425.14	transcript	ENST00000319550.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
NT5DC1_chr6_116095853_116254497	116246468	T T	TACACACA others(15): Show TACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0115 a0001c0001t0025g0115	1	300	0.0033	22	c.24 others(33): Show c.2449_*2470dupACACACACACACACACACACAC	NT5DC1	ENSG00000178425.14	transcript	ENST00000319550.9	protein_coding	12/12	2471	INFO_REALIGN_3_PRIME	chr6	TogoVar
NT5DC4_chr2_112716020_112744095	112719988	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0273 a0007c0008t0001g0273	1	364	0.0028	22	c.-10 others(33): Show c.-1092_-1091insTCTTTCTTTCTTTCTTTCTTTC	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding		1031		chr2	TogoVar
NT5DC4_chr2_112716020_112744095	112720010	T T	TCCTTCCT others(15): Show TCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0001 a0003c0003t0002g0001	1	364	0.0028	22	c.-10 others(33): Show c.-1070_-1069insCCTTCCTTCCTTCCTTCCTTCC	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding		1009		chr2	TogoVar
NT5DC4_chr2_112716020_112744095	112723361	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18939.hp1 NA18952.hp1 HG00621.hp1 NA18939.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206	3	364	0.0082	22	c.622 others(35): Show c.622-44_622-23dupCACACACACACACACACACACA	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NTM_chr11_131365615_132341822	131401808	A A	ATATATAT others(15): Show ATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0073 a0001c0002t0003g0073	1	86	0.0116	22	c.82+ others(39): Show c.82+30939_82+30940insGTGTATATATATATATATATAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131401810	A A	ATATATAT others(15): Show ATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	86	0.0116	22	c.82+ others(39): Show c.82+30941_82+30942insGTGTATATATATATATATATAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131401812	A A	ATATATAT others(15): Show ATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	86	0.0116	22	c.82+ others(39): Show c.82+30943_82+30944insGTGTATATATATATATATATAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131424600	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG04184.hp2 HG02615.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0035 a0001c0001t0004g0072 a0001c0001t0002g0035 a0001c0001t0004g0072	2	86	0.0233	22	c.82+ others(39): Show c.82+53730_82+53731insTTTTTTTTTTTTTTTTTTTTTT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131589167	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	86	0.0116	22	c.82+ others(41): Show c.82+218293_82+218314dupGTGTGTGTGTGTGTGTGTGTGT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131812183	C C	CCTCTCTC others(15): Show CCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02922.hp2 HG03471.hp1 HG01074.hp1 HG02922.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0064 a0001c0001t0003g0049 a0001c0001t0004g0029 a0001c0001t0002g0064 a0001c0001t0003g0049 a0001c0001t0004g0029	3	86	0.0349	22	c.83- others(39): Show c.83-99364_83-99343dupCTCTCTCTCTCTCTCTCTCTCT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131834625	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	86	0.0116	22	c.83- others(39): Show c.83-76919_83-76918insATATATATATATATATATATAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN1_chr17_9016510_9249000	9114162	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	258	0.0039	22	c.101 others(43): Show c.1019-48650_1019-48649insTATATATATATATATATATATA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN1_chr17_9016510_9249000	9114164	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0238 a0001c0001t0056g0238	1	258	0.0039	22	c.101 others(43): Show c.1019-48648_1019-48647insTATATATATATATATATATATA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN1_chr17_9016510_9249000	9202055	C C	CACACACA others(15): Show CACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0245 a0001c0001t0022g0245	1	258	0.0039	22	c.141 others(43): Show c.1411+19087_1411+19088insCACACACACACACACACACAAA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr17	TogoVar

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