Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(302): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCCTCT CCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACT CTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	77	0.0130	309	c.-27 others(320): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LAMC1_chr1_183018420_183150592	183149589	T T	TCACATCC others(302): Show TCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCA CACACCACACAGCCCACACCCCTCCTCACACACCACACAGCTCACACCCC TCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACCACACA GCCCACACCCCTCTCCTGCTCACACACCACACAGCCCACACCCCTCTCCT CCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCCC ACACCCCTCTCCTCACACACCAGACAGCTCACACCCCTCTCCTCCTCACA CCACAGAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0020	1	296	0.0034	309	c.67 others(320): Show c.6799_*6800insCACATCCCTCTCCTCACACACCACACAGCCCACA CCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACACACCA CACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCC TCCTCACACCACACAGCCCACACCCCTCTCCTGCTCACACACCACACAGC CCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCA CACACCACACAGCCCACACCCCTCTCCTCACACACCAGACAGCTCACACC CCTCTCCTCCTCACACCACAGAGCC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3998		chr1	TogoVar
LAMC1_chr1_183018420_183150592	183149624	T T	TCCCTCTC others(302): Show TCCCTCTCCTCCTCACACCACACAGCCCACACCCCTCTCCTCACACCACA CAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTC CTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACCACACAGCCCAC ACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCAC ACACCACACAGCCCACACCCCTCTCCTCACACCACACAGCTCACACCCCT GTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACCACA GAGCCCACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	273	0.0037	309	c.68 others(320): Show c.6834_*6835insCCCTCTCCTCCTCACACCACACAGCCCACACCCC TCTCCTCACACCACACAGCTCACACCCCTCTCCTCCTCACACACCACACA GCTCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCA CACCACACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCACAC CCCTCTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCACACCAC ACAGCTCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCT CCTCCTCACACCACAGAGCCCACAC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4033		chr1	TogoVar
LIN52_chr14_74079956_74206493	74200229	T T	TATGGTGA others(302): Show TATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGG TGGCACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATC GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAATAAATAAATAA ATAAAAAAGAATCTCCTGGCCAGGCGGCTCATGCCTGTAATCCCAGCACT TTGGCAGGCTGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCGAGACCAG CCTGGCCAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(117): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp2 NA18942.hp1 NA18944.hp2 NA18947.hp2 NA18962.hp2 NA18967.hp1 NA18984.hp1 NA18988.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19043.hp2 NA19056.hp1 NA19062.hp2 NA19070.hp1 NA19072.hp1 NA19077.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0002c0003t0018 a0002c0003t0044	a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0001g0152 others(116): Show a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0191 a0001c0001t0001g0205 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0005g0295 a0001c0001t0005g0297 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0310 a0001c0001t0005g0315 a0001c0001t0005g0316 a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0328 a0001c0001t0005g0330 a0001c0001t0008g0003 a0001c0001t0008g0296 a0001c0001t0008g0307 a0001c0001t0008g0308 a0001c0001t0008g0309 a0001c0001t0008g0311 a0001c0001t0008g0312 a0001c0001t0008g0313 a0001c0001t0008g0327 a0001c0001t0008g0329 a0001c0001t0008g0331 a0001c0001t0008g0332 a0001c0001t0008g0333 a0001c0001t0008g0334 a0001c0001t0017g0314 a0001c0001t0017g0321 a0001c0001t0017g0322 a0001c0001t0018g0085 a0001c0001t0018g0271 a0001c0001t0023g0337 a0001c0001t0023g0343 a0001c0001t0041g0298 a0001c0001t0042g0302 a0001c0001t0043g0249 a0002c0003t0018g0201 a0002c0003t0044g0187	120	350	0.3429	309	c.12 others(320): Show c.1263_*1264insTCGTCTCTACTAAAAATACAAAAATTAGCTGGGC GTGGTGGCACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAATAAATAA ATAAATAAAAAAGAATCTCCTGGCCAGGCGGCTCATGCCTGTAATCCCAG CACTTTGGCAGGCTGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCGAGA CCAGCCTGGCCAACATGGTGAAACC	LIN52	ENSG00000205659.12	transcript	ENST00000555028.7	protein_coding	6/6	1264	INFO_REALIGN_3_PRIME	chr14	TogoVar
LIN52_chr14_74079956_74206493	74200229	T T	TATGGTGA others(302): Show TATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGG TGGCACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATC GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAATAAATAAATAA ATAAATAAGAATCTCCTGGCCAGGCGGCTCATGCCTGTAATCCCAGCACT TTGGCAGGCTGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCGAGACCAG CCTGGCCAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03492.hp1 HG03669.hp2 HG03492.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0229 a0001c0001t0024g0230 a0001c0001t0024g0229 a0001c0001t0024g0230	2	232	0.0086	309	c.12 others(320): Show c.1263_*1264insTCGTCTCTACTAAAAATACAAAAATTAGCTGGGC GTGGTGGCACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAATAAATAA ATAAATAAATAAGAATCTCCTGGCCAGGCGGCTCATGCCTGTAATCCCAG CACTTTGGCAGGCTGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCGAGA CCAGCCTGGCCAACATGGTGAAACC	LIN52	ENSG00000205659.12	transcript	ENST00000555028.7	protein_coding	6/6	1264	INFO_REALIGN_3_PRIME	chr14	TogoVar
LOC102723971_chr9_135609183_135624893	135620055	A A	ACTCCCCC others(302): Show ACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCC CCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCC CCTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCTG TCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTCTCCCCCTACTCC TTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTACTC CCCCGTCTCCCCCGTCTCCCCCTTCTCCCCCTTTTCCCCCTACTCCCCCT TCTCCCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	427	0.0023	309	c.11 others(320): Show c.1103_*1104insCTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCA GTCTCCCCCATCTCCCCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCC CTTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCT CCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCC TTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCC CTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCTTCTCCCCCTTTT CCCCCTACTCCCCCTTCTCCCCCAT	LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding		163		chr9	TogoVar
LOC122319696_chrX_149409877_149420506	149418501	T T	TATATATA others(302): Show TATATATAATATATATTATATTATATATATATCATATATATAATATATAT TATATTATATATATATCATATATATAATATATATTATATTATATATATAT CATATATATAATATATATTATATTATATATATATCATATATATAATATAT ATTATATTATATATATATCATATATATAATATATATTATATTATATATAT ATCATATATATAATATATATTATATTATATATATATCATATATATAATAT ATATTATATTATATATATATCATATATATAATATATATTATATTATATAT ATATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	309	c.-30 others(320): Show c.-3025_-3024insTATATTATATATATATAATATAATATATATTATA TATATGATATATATATAATATAATATATATTATATATATGATATATATAT AATATAATATATATTATATATATGATATATATATAATATAATATATATTA TATATATGATATATATATAATATAATATATATTATATATATGATATATAT ATAATATAATATATATTATATATATGATATATATATAATATAATATATAT TATATATATGATATATATATAATATAATATATATTATATATATGATATAT ATATAATATAATATATATTATATAT	LOC122319696	ENSG00000287585.2	transcript	ENST00000653668.2	protein_coding		2996		chrX	TogoVar
LOC122526780_chr17_6631780_6645316	6635337	T T	TAAAAGCA others(302): Show TAAAAGCAACCACACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	325	0.0031	309	c.14 others(320): Show c.1442_*1443insTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACC ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCGTGTGGTTGCTTTT	LOC122526780	ENSG00000282936.3	transcript	ENST00000713584.1	protein_coding		1442		chr17	TogoVar
LOC122539214_chr19_52645447_52695496	52660439	T T	TGAAATCC others(302): Show TGAAATCCTGTCTCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACC ATCCCGGCCAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0006 a0004c0008t0005 a0001c0001t0006 a0004c0008t0005	a0001c0001t0006g0220 a0004c0008t0005g0164 a0004c0008t0005g0165 a0001c0001t0006g0220 a0004c0008t0005g0164 a0004c0008t0005g0165	3	440	0.0068	309	c.63+ others(322): Show c.63+322_63+323insTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTTGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTGGCCGGGATGGTCTCGATCTCTTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTAGAGACAGGATTTC	LOC122539214	ENSG00000269825.3	transcript	ENST00000598322.3	protein_coding	2/3			chr19	TogoVar
LOC122539214_chr19_52645447_52695496	52660439	T T	TGAAATCC others(302): Show TGAAATCCTGTCTCTAGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAAGAGATCGAGACC ATCCCGGCCAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAAGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0012 a0007c0006t0012	a0007c0006t0012g0055 a0007c0006t0012g0055	1	438	0.0023	309	c.63+ others(322): Show c.63+322_63+323insTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTTGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTGGCCGGGATGGTCTCGATCTCTTGACCTTGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCA CCGCGCCCGGCCTAGAGACAGGATTTC	LOC122539214	ENSG00000269825.3	transcript	ENST00000598322.3	protein_coding	2/3			chr19	TogoVar
LOC128462377_chr16_89312046_89423292	89341900	A A	ACCCACAG others(302): Show ACCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGCACCTCCTCCACGAA CAGCAGCCACGGCCCATGGCAGGAGTGCTGCACCTCCACCCACAGCGGCC ACAGCCCACGGCGGGAGTGCTGCACCTCCACTGCCCACAGCGGCCACGGC CCACGGCGGGAGTGCTGCACCTCCTCCACGAACAGCAGCCACGGCCCATG GCAGGAGTGCTGCACCTCCACCCACAGCGGCCACAGCCCACGGCGGGAGT GCTGCACCTCCACTGCCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGC ACCTCCACTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	302	0.0033	309	c.10- others(326): Show c.10-24826_10-24825insCAGTGGAGGTGCAGCACTCCCGCCGTGG GCCGTGGCCGCTGTGGGCAGTGGAGGTGCAGCACTCCCGCCGTGGGCTGT GGCCGCTGTGGGTGGAGGTGCAGCACTCCTGCCATGGGCCGTGGCTGCTG TTCGTGGAGGAGGTGCAGCACTCCCGCCGTGGGCCGTGGCCGCTGTGGGC AGTGGAGGTGCAGCACTCCCGCCGTGGGCTGTGGCCGCTGTGGGTGGAGG TGCAGCACTCCTGCCATGGGCCGTGGCTGCTGTTCGTGGAGGAGGTGCAG CACTCCCGCCGTGGGCCGTGGCCGCTGTGGG	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LRBA_chr4_150259435_151020284	150372750	G G	GCAGTAAG others(302): Show GCAGTAAGTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCCCGCTGTTT AGCCCAGGCCGGATTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC CTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTTGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCAGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02523.hp2 HG02071.hp1 HG02523.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0007 a0003c0004t0001 a0003c0004t0007	a0003c0004t0001g0066 a0003c0004t0007g0161 a0003c0004t0001g0066 a0003c0004t0007g0161	2	132	0.0152	309	c.719 others(330): Show c.7195-22592_7195-22591insGCTGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAG ATCGAGACCATCTTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAATCCGGCCTGGGCTAAACAGCGGGACTC CGTCTCAAAAAAAAAAAAAAAAAAAGAACTTACTG	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	47/56			chr4	TogoVar
LRRC4C_chr11_40109209_41464652	40776000	C C	CAAAAGGA others(302): Show CAAAAGGATTTTCTGTACACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGAGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03453.hp1 NA20300.hp2 HG02965.hp1 HG03453.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0044	3	46	0.0652	309	c.-40 others(332): Show c.-406-127723_-406-127722insTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCACTCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGTACAGAAAATCCTTTT	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	2/6			chr11	TogoVar
LUC7L_chr16_183990_234449	187122	G G	GAGGAACA others(302): Show GAGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGGAACAGCGTCACGGGAGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGGAACAGCGTCACGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	283	0.0035	309	c.20 others(320): Show c.2075_*2076insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCGTGACGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTG TCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCGTGACGCTGTTCC CCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCTCCCTCCCGTGTCGCTGTTCCT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1867		chr16	TogoVar
LUC7L_chr16_183990_234449	187139	G G	GAGGAACA others(302): Show GAGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGGAACAGCGTCACGGGAGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGGAACAGCGTCACGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	286	0.0035	309	c.20 others(320): Show c.2058_*2059insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCGTGACGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTG TCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCGTGACGCTGTTCC CCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCTCCCTCCCGTGTCGCTGTTCCT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1850		chr16	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(302): Show TATATATAATTATATATAATATAATTATATAATATATAATTTATATATAA TATAATTATATAATATATAATTTATATATTATATAATTATATAATATATA ATTTATATATAATATAATTATATAATATATAATTTATATATAATATAATT ATATAATATATAATTTATATATAATATAATTATATAATATATAATTTATA TATAATATAATTATATAATATATAATTTATATATAATATAATTATATAAT ATATAATTTATATATAATATAATTATATAATATATAATTTATATATAATA TAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	108	0.0093	309	c.-31 others(320): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATAATA TATAAATTATATATTATATAATTATATTATATATAAATTATATATTATAT AATTATATTATATATAATTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MEI4_chr6_77648039_77932045	77654537	T T	TAAAAAAT others(302): Show TAAAAAATTGAAAACAATGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAG TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02970.hp2 HG03516.hp2 others(2): Show HG02572.hp1 HG02970.hp2 HG03516.hp2 NA18522.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 others(1): Show a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0032	a0001c0001t0007g0228 a0001c0001t0007g0229 a0001c0001t0012g0226 others(2): Show a0001c0001t0007g0228 a0001c0001t0007g0229 a0001c0001t0012g0226 a0001c0001t0014g0230 a0001c0001t0032g0227	5	194	0.0258	309	c.-15 others(326): Show c.-15+1462_-15+1463insGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAATTGAAAACAAT	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MELK_chr9_36567895_36682682	36645304	T T	TGAAAAAG others(302): Show TGAAAAAGTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCC CCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG04204.hp1 NA19011.hp1 HG02698.hp2 HG04204.hp1 NA19011.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0190 a0001c0006t0001g0191 a0001c0006t0001g0193 a0001c0006t0001g0190 a0001c0006t0001g0191 a0001c0006t0001g0193	3	222	0.0135	309	c.921 others(326): Show c.921+2233_921+2234insTTTTTTTTTTTTTTTTTTGAGACAGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCGAAAAAGTCTTT	MELK	ENSG00000165304.8	transcript	ENST00000298048.7	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
MLPH_chr2_237482251_237560322	237543299	T T	TGGGCACG others(302): Show TGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTAATGAG TCGGGGGACAGTGGTGAGTGGGCATGGTAGTGAGTGGGGGGACAGTGGTG AGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGG TGAGTTGGGGGGACAGTGGTGAGTGGGGGGATGGTGAGTGGGCACGGTGG TGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAG TGGCAAGTGGGCACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACA TTGGTGAGTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0019 a0019	a0019c0025 a0019c0025	a0019c0025t0003 a0019c0025t0003	a0019c0025t0003g0267 a0019c0025t0003g0267	1	211	0.0047	309	c.153 others(326): Show c.1539+643_1539+644insCACGGTAGTGAGTGGGGGGACAGTGGTG AGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTGGGCATGGTAGTG AGTGGGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGGGACAGTGG TGAGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGGGGGAT GGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAG TGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGAGGGGA CAGTGGTGAGTGGGGACATTGGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544456	G G	GACAGTGG others(302): Show GACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGA CAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACGGTGGTGAGTGGAGG GGACAGTGGTGAGTGGGGACATTGGTGAGTGGGGGGACAGTGGTGAGTGG AGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACAGTGG TGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAG TGGTGAGTGGGTACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0086 a0002c0002t0002g0086	1	271	0.0037	309	c.153 others(328): Show c.1539+1802_1539+1803insGGCAAGTGGGCACAGTGGTGAGTGGG GACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGG CACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACATTGGTGAGTGG GGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACAGTGGT GAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGT GGTGAGTGGAGGGGACAGTGGTGAGTGGGTACAGTGGTGAGTGGGGACAG TGGTGAGTGGGGACAGTGGTGAGTGGGTACAGT	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MMD2_chr7_4900998_4964187	4959821	G G	GGGGTGTT others(302): Show GGGGTGTTGGGGGGTGGAGGGAGTGGAAAGTGGGGGGTTGGGGGGAGTGG GGGACCTGGGGGTGGAGGAAGTGGGGGGTTCGTGGGAAGAAGGGGACCTG GAGGTGGAGGGAGTGGGAAGTCGGGGTGTTGGGGGGGGAGTGAGGGGGTT AGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTT GGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTG GGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGG AGTGGGAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0317 a0001c0004t0002g0317	1	275	0.0036	309	c.-80 others(318): Show c.-805_-804insACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTC CCACTAACCCCCTCACTCCCCCCCCAACACCCCCACTTCCCACTCCCCCC ACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAA CCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAACACC CCGACTTCCCACTCCCTCCACCTCCAGGTCCCCTTCTTCCCACGAACCCC CCACTTCCTCCACCCCCAGGTCCCCCACTCCCCCCAACCCCCCACTTTCC ACTCCCTCCACCCCCCAACACCC	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		635		chr7	TogoVar
MMS22L_chr6_97137161_97288216	97220693	T T	TAAAAAGA others(302): Show TAAAAAGAAAGGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp2 HG02647.hp2 others(1): Show HG02145.hp1 HG02280.hp2 HG02647.hp2 HG02818.hp1	a0005 a0005	a0005c0008 a0005c0009 a0005c0008 a0005c0009	a0005c0008t0017 a0005c0009t0018 a0005c0008t0017 a0005c0009t0018	a0005c0008t0017g0005 a0005c0008t0017g0006 a0005c0009t0018g0007 others(1): Show a0005c0008t0017g0005 a0005c0008t0017g0006 a0005c0009t0018g0007 a0005c0009t0018g0065	4	290	0.0138	309	c.203 others(328): Show c.2039+8200_2039+8201insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTACCCTTTCTTTTT	MMS22L	ENSG00000146263.12	transcript	ENST00000683635.1	protein_coding	14/24			chr6	TogoVar
MOSPD2_chrX_14868421_14927327	14899114	T T	TGAACTAG others(302): Show TGAACTAGAAAGTCTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCCGAG TAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTA TTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCAC CGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	241	0.0083	309	c.478 others(326): Show c.478-1444_478-1443insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTC CGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTT TTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAG CCACCGCGCCCGGCGAACTAGAAAGTCTTTC	MOSPD2	ENSG00000130150.12	transcript	ENST00000380492.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(302): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCAGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCGCCC CATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0134 a0001c0027t0001g0134	1	59	0.0169	309	c.241 others(328): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGGC GGGGGGGCTGACCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSLN_chr16_755734_773862	767540	G G	GCGTGGAG others(302): Show GCGTGGAGGGGGGGGGCGAGTGGAGGAGCCCCGGTGGAGGGGCGCGTGGA GGAGGGGCGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCACGTGGAGGAG GGGCGAGCGGGAGGAGGGGCGCGTGGAGGAGGGGCGAGCGGGAGGAGGGG CGCGTGGAGGGGGTGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCGCGTG GAGGGGGTGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGC GCGTGGAGGGGGCACGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGCG TGGGGGGGCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	380	0.0026	309	c.159 others(324): Show c.1596+83_1596+84insGGCGAGTGGAGGAGCCCCGGTGGAGGGGCG CGTGGAGGAGGGGCGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCACGTG GAGGAGGGGCGAGCGGGAGGAGGGGCGCGTGGAGGAGGGGCGAGCGGGAG GAGGGGCGCGTGGAGGGGGTGCGTGGAGGAGGGGCGAGCGGGAGGAGGGG CGCGTGGAGGGGGTGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAG GGGGGCGCGTGGAGGGGGCACGTGGGGGGGTGTGGAGGGGGGCGCGTGGG GGTGCGTGGGGGGGCACGTGGAGGGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTRR_chr5_7864148_7906113	7864812	G G	GAAAAAAA others(302): Show GAAAAAAAATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG03130.hp2 HG02109.hp1 HG03130.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0004 a0011c0013t0004	a0011c0013t0004g0056 a0011c0013t0004g0284 a0011c0013t0004g0056 a0011c0013t0004g0284	2	419	0.0048	309	c.-44 others(320): Show c.-4429_-4428insAAAAAAAATCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAA	MTRR	ENSG00000124275.15	transcript	ENST00000440940.7	protein_coding		4335		chr5	TogoVar
MTRR_chr5_7864148_7906113	7864812	G G	GAAAAAAA others(302): Show GAAAAAAAATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0005 a0010c0012t0005	a0010c0012t0005g0283 a0010c0012t0005g0283	1	418	0.0024	309	c.-44 others(320): Show c.-4429_-4428insAAAAAAAATCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAA	MTRR	ENSG00000124275.15	transcript	ENST00000440940.7	protein_coding		4335		chr5	TogoVar
MYO10_chr5_16656907_16941288	16716504	T T	TAAGAAGT others(302): Show TAAGAAGTATGACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACAAAAAATACAAAAATTAGC CGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0147 a0004c0004t0147	a0004c0004t0147g0014 a0004c0004t0147g0014	1	141	0.0071	309	c.193 others(328): Show c.1930-5260_1930-5259insTTTTTTTTTTTTTTTTGAGACGGAGT TTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTT TTTGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTGTCATACTTCTT	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	19/40			chr5	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(302): Show TCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCT CTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTT CCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCC TCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCC CTCCCTTTCTTTCCTTCCCTCCTTCCTTTCCTTCCCTTCTTTCCCTCCTT CCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03942.hp2 NA18969.hp1 others(1): Show HG02572.hp2 HG03942.hp2 NA18969.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0017 a0001c0003 a0001c0006 a0001c0017	a0001c0003t0001 a0001c0006t0002 a0001c0006t0007 others(1): Show a0001c0003t0001 a0001c0006t0002 a0001c0006t0007 a0001c0017t0004	a0001c0003t0001g0094 a0001c0006t0002g0029 a0001c0006t0007g0098 others(1): Show a0001c0003t0001g0094 a0001c0006t0002g0029 a0001c0006t0007g0098 a0001c0017t0004g0097	4	21	0.1905	309	c.153 others(326): Show c.153-9384_153-9383insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAG GGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGA GAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAG AGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGG GAGGAAGGGGGAGGGAGGGAGGGAAGGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64173646	T T	TAGTTGTG others(302): Show TAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCCTTCC CTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTT TCCCTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCAT CTTTCCTTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAG CATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAG CATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAG CATCTTTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp2 HG02622.hp1 others(5): Show HG00099.hp2 HG00673.hp2 HG02622.hp1 HG02886.hp2 HG02922.hp1 HG03225.hp2 HG03516.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0003t0022	a0001c0001t0001g0088 a0001c0001t0003g0087 a0001c0001t0003g0089 others(5): Show a0001c0001t0001g0088 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0002t0002g0092 a0001c0002t0002g0108 a0001c0002t0005g0090 a0001c0002t0006g0136 a0001c0003t0022g0115	8	159	0.0503	309	c.-99 others(326): Show c.-99+8907_-99+8908insAGTTGTGTCCATTTCCCCTCCCTGACTT CTCCTCCTGCAGCATCCTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGA CTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCC TGACTTCTCCTCCTGCAGCATCTTTCCTTGTAGTTGTGTCCATTTCCCCT CCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCC CCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCC CCTCCCTGGCTTCTCCTGCAGCATCTTTCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
MYT1_chr20_64159452_64247253	64173646	T T	TAGTTGTG others(302): Show TAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCCTTCC CTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTT TCCCTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCAT CTTTCCTTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAG CATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAG CATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAG CATCTTTCCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	152	0.0066	309	c.-99 others(326): Show c.-99+8907_-99+8908insAGTTGTGTCCATTTCCCCTCCCTGACTT CTCCTCCTGCAGCATCCTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGA CTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCC TGACTTCTCCTCCTGCAGCATCTTTCCTTGTAGTTGTGTCCATTTCCCCT CCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCC CCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCC CCTCCCTGGCTTCTCCTGCAGCATCTTTCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(302): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGAGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGAGAGAG GAGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGG AGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGGAGGGAGGAGGGAG GGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18950.hp2 NA18999.hp1 HG04199.hp1 NA18950.hp2 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0015 a0001c0002t0003 a0001c0002t0015	a0001c0002t0003g0126 a0001c0002t0003g0188 a0001c0002t0015g0111 a0001c0002t0003g0126 a0001c0002t0003g0188 a0001c0002t0015g0111	3	9	0.3333	309	c.887 others(326): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCT CCTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCT CTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCC GCCCTCCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCC CTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCTCTCTT CCCTCCCTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(302): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGCAGGA GGGCGGGAGGAGGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGA GGAGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAG GAGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGAGGGAGGAGGGAG GAGGAGGGAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp2 HG02109.hp2 others(5): Show HG01261.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02976.hp1 HG03041.hp1 HG03225.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0007 a0001c0023 a0003c0013 others(2): Show a0001c0007 a0001c0023 a0003c0013 a0003c0015 a0004c0032	a0001c0007t0020 a0001c0007t0049 a0001c0023t0014 others(4): Show a0001c0007t0020 a0001c0007t0049 a0001c0023t0014 a0003c0013t0010 a0003c0013t0077 a0003c0015t0010 a0004c0032t0010	a0001c0007t0020g0206 a0001c0007t0020g0346 a0001c0007t0049g0246 others(5): Show a0001c0007t0020g0206 a0001c0007t0020g0346 a0001c0007t0049g0246 a0001c0023t0014g0072 a0003c0013t0010g0016 a0003c0013t0077g0035 a0003c0015t0010g0122 a0004c0032t0010g0040	8	14	0.5714	309	c.887 others(326): Show c.887-6680_887-6679insGTCCCTCCTCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCTGCCTCCCTCCTCCC GCCCTCCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCC CTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCCCTCTT CCCTCCCTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NCAM2_chr21_20993409_21548329	21265029	G G	GTGTATAT others(302): Show GTGTATATATACACATATATATTATATATGTGTATGTGTATATATACACA TATATATTATATATGTGTATGTGTATATATACACATATATATTATATATG TGTATGTGTATATATATACACATATATATTATATATGTGTATGTGTATAT ATACACATATATATTATATATGTGTATGTGTATATATATACACATATATA TTATATATGTGTATATGTATATATACACATATATATATGTGTCTGTATAT ATATACACATATATATTATATATATGTGTCTGTGTATATATATACACATA TATATGTGTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19240.hp1 HG02976.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0027 a0001c0001t0002 a0001c0001t0027	a0001c0001t0002g0004 a0001c0001t0027g0066 a0001c0001t0002g0004 a0001c0001t0027g0066	2	130	0.0154	309	c.56- others(326): Show c.56-15540_56-15539insACACATATATATTATATATGTGTATGTG TATATATACACATATATATTATATATGTGTATGTGTATATATACACATAT ATATTATATATGTGTATGTGTATATATATACACATATATATTATATATGT GTATGTGTATATATACACATATATATTATATATGTGTATGTGTATATATA TACACATATATATTATATATGTGTATATGTATATATACACATATATATAT GTGTCTGTATATATATACACATATATATTATATATATGTGTCTGTGTATA TATATACACATATATATGTGTCTGTATATAT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NDUFA5_chr7_123531997_123562818	123554488	A A	ACAATTTA others(302): Show ACAATTTATAAGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	398	0.0025	309	c.66+ others(324): Show c.66+2915_66+2916insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAACTTATAAATTG	NDUFA5	ENSG00000128609.16	transcript	ENST00000355749.7	protein_coding	2/4			chr7	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(302): Show CAAAAAGTATAACTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00609.hp1 others(46): Show HG00140.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG01074.hp2 HG01361.hp2 HG01515.hp2 HG02015.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02155.hp2 HG02723.hp2 HG03492.hp1 HG03669.hp1 HG03688.hp2 HG03942.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18953.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18977.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18992.hp2 NA18998.hp2 NA19004.hp2 NA19010.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19074.hp2 NA19080.hp2 NA19081.hp1 NA19089.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0006 a0002c0008 a0002c0009 a0002c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0033 a0001c0002t0003 a0001c0002t0012 a0001c0003t0005 a0001c0004t0004 a0001c0005t0006 a0001c0005t0007 a0001c0007t0001 a0002c0006t0001 a0002c0006t0006 a0002c0006t0007 a0002c0006t0008 a0002c0008t0004 a0002c0009t0005 a0002c0015t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 others(46): Show a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0005g0333 a0001c0001t0006g0131 a0001c0001t0006g0145 a0001c0001t0006g0169 a0001c0001t0006g0350 a0001c0001t0007g0155 a0001c0001t0008g0115 a0001c0001t0008g0116 a0001c0001t0008g0170 a0001c0001t0033g0171 a0001c0002t0003g0210 a0001c0002t0012g0299 a0001c0003t0005g0176 a0001c0004t0004g0130 a0001c0004t0004g0139 a0001c0004t0004g0153 a0001c0004t0004g0162 a0001c0004t0004g0214 a0001c0004t0004g0301 a0001c0005t0006g0158 a0001c0005t0007g0300 a0001c0007t0001g0157 a0002c0006t0001g0144 a0002c0006t0001g0166 a0002c0006t0006g0013 a0002c0006t0006g0137 a0002c0006t0006g0142 a0002c0006t0006g0163 a0002c0006t0007g0026 a0002c0006t0008g0156 a0002c0006t0008g0174 a0002c0006t0008g0188 a0002c0008t0004g0127 a0002c0008t0004g0134 a0002c0008t0004g0135 a0002c0008t0004g0136 a0002c0008t0004g0138 a0002c0008t0004g0141 a0002c0008t0004g0154 a0002c0009t0005g0143 a0002c0015t0001g0173	49	210	0.2333	309	c.-74 others(326): Show c.-74-6203_-74-6202insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGTGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(302): Show CAAAAAGTATAACTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02615.hp1 others(6): Show HG02055.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02818.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0009 a0001c0002t0011 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0011 a0001c0003t0010	a0001c0001t0002g0228 a0001c0001t0009g0319 a0001c0002t0011g0208 others(6): Show a0001c0001t0002g0228 a0001c0001t0009g0319 a0001c0002t0011g0208 a0001c0003t0010g0017 a0001c0003t0010g0045 a0001c0003t0010g0222 a0001c0003t0010g0223 a0001c0003t0010g0224 a0001c0003t0010g0225	9	170	0.0529	309	c.-74 others(326): Show c.-74-6203_-74-6202insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGTGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(302): Show CAAAAAGTATAACTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA21309.hp1 HG02717.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0034 a0001c0005t0001 a0001c0002t0034 a0001c0005t0001	a0001c0002t0034g0359 a0001c0005t0001g0047 a0001c0002t0034g0359 a0001c0005t0001g0047	2	163	0.0123	309	c.-74 others(326): Show c.-74-6203_-74-6202insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGTGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(302): Show CAAAAAGTATAACTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA20300.hp1 HG02818.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0007 a0001c0005t0016 a0001c0001t0007 a0001c0005t0016	a0001c0001t0007g0322 a0001c0005t0016g0323 a0001c0001t0007g0322 a0001c0005t0016g0323	2	163	0.0123	309	c.-74 others(326): Show c.-74-6203_-74-6202insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGTGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(302): Show CAAAAAGTATAACTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03486.hp1 HG02257.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0005t0001 a0001c0001t0006 a0001c0005t0001	a0001c0001t0006g0324 a0001c0005t0001g0180 a0001c0001t0006g0324 a0001c0005t0001g0180	2	163	0.0123	309	c.-74 others(326): Show c.-74-6203_-74-6202insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGTGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(302): Show CAAAAAGTATAACTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0072 a0001c0001t0006g0072	1	162	0.0062	309	c.-74 others(326): Show c.-74-6203_-74-6202insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(302): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	157	0.0064	309	c.91+ others(322): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(302): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	157	0.0064	309	c.91+ others(322): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397726	C C	CGGGGGGT others(302): Show CGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGT GTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	313	0.0032	309	c.91+ others(322): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGGGTGGGGGTGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOP14_chr4_2932936_2968406	2961329	T T	TGATCCAC others(302): Show TGATCCACACTCTAGCCTCACAACCATCACACTAACTATCAGAAACCTCT CACTACCACACAACCACCTCTCTAACTACTCAAGCTCACACTCTTCACTA TCCGTTACCTCTATTACTACTATAGTCCACACACTACCCACTCAACCACC ACATATAACTGACACAACCACACACTACCCACACTACCACCACACGTAAC TATCTAAGAACACTCACGACCCACACTACCACCACACGTAACTACTCTAC CTACTATCGTACCCTCTACTAACCTACTAGTAACCAGTCTAAACCTCCCA CCCTACCTAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0014 a0009c0008t0014	a0009c0008t0014g0054 a0009c0008t0014g0054	1	420	0.0024	309	c.195 others(326): Show c.195+1795_195+1796insGTAGGTAGGGTGGGAGGTTTAGACTGGT TACTAGTAGGTTAGTAGAGGGTACGATAGTAGGTAGAGTAGTTACGTGTG GTGGTAGTGTGGGTCGTGAGTGTTCTTAGATAGTTACGTGTGGTGGTAGT GTGGGTAGTGTGTGGTTGTGTCAGTTATATGTGGTGGTTGAGTGGGTAGT GTGTGGACTATAGTAGTAATAGAGGTAACGGATAGTGAAGAGTGTGAGCT TGAGTAGTTAGAGAGGTGGTTGTGTGGTAGTGAGAGGTTTCTGATAGTTA GTGTGATGGTTGTGAGGCTAGAGTGTGGATC	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOTCH1_chr9_136489433_136551048	136535597	A A	AGGGGCAA others(302): Show AGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCC CGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTC CCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGATCACTCAGGATCCCT CCCGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGAGGGGAGCACTCAG GATCCCTCCC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0100 a0001c0002t0005g0100	1	260	0.0038	309	c.140 others(326): Show c.140+8426_140+8427insGGGAGGGATCCTGAGTGCTCCCCTCTCC ACCCACTCCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGATCC CCCCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTC CCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCT CCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCT CCCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGC TCCCCCCGACCCACCCTGCACCCATTGCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535645	T T	TCCCAGGG others(302): Show TCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATC CCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGAT CCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGG ATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCA GGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTC AGGATCCCTCCCAGGAGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTC AGGATCCCTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18522.hp2 HG03130.hp1 NA18522.hp2	a0015 a0020 a0015 a0020	a0015c0033 a0020c0039 a0015c0033 a0020c0039	a0015c0033t0003 a0020c0039t0001 a0015c0033t0003 a0020c0039t0001	a0015c0033t0003g0263 a0020c0039t0001g0264 a0015c0033t0003g0263 a0020c0039t0001g0264	2	125	0.0160	309	c.140 others(326): Show c.140+8378_140+8379insGAGGGATCCTGAGTGCTCCCCCCGACCC ACCCTGCACCCATTGCTCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC CCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCA CCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTC CACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCC TCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCC CTCCACCCACCCTGCACCCATTGCCCCTGGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRF1_chr7_129606720_129762076	129642756	A A	ACTTTTTT others(302): Show ACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCTTTTT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	290	0.0034	309	c.-6- others(326): Show c.-6-14590_-6-14589insCTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTTTTT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	1/10			chr7	TogoVar
NRG3_chr10_81870194_82992178	82525436	T T	TAAAAATC others(302): Show TAAAAATCAGCTTTCGTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp2 HG02572.hp2 HG02896.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0004 a0001c0002t0002 a0002c0003t0004	a0001c0002t0002g0038 a0002c0003t0004g0019 a0001c0002t0002g0038 a0002c0003t0004g0019	2	66	0.0303	309	c.953 others(330): Show c.953+166584_953+166585insCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAATCAGCTTTCGT	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(302): Show ATATATAATATATATTATATATAAAGTATATATATAATATATATAATATA TATTATATATAAAGTATATATATAATATATATAATATATATTATATATAT AAAGTATATATATAATATATATAATATATATTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT ATAATATATATTATATATAAAGTATATATATAATATATATTATATATAAA GTATATATATAATATATATTATATATATATAAAATATATAATATATATTA TATATATAAG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18971.hp1 NA19002.hp2 NA18954.hp2 NA18971.hp1 NA19002.hp2	a0002 a0008 a0002 a0008	a0002c0004 a0008c0014 a0002c0004 a0008c0014	a0002c0004t0001 a0008c0014t0001 a0002c0004t0001 a0008c0014t0001	a0002c0004t0001g0128 a0002c0004t0001g0129 a0008c0014t0001g0127 a0002c0004t0001g0128 a0002c0004t0001g0129 a0008c0014t0001g0127	3	4	0.7500	309	c.730 others(326): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATATTATATATATACT TTATATATATAATATATATTATATATATTATATATATACTTTATATATAT AATATATATTATATATATTATATATATACTTTATATATATAATATATATT ATATATATTATATATATACTTTATATATAATATATATTATATATATTATA TATATACTTTATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar

Search by Variant

Search

Search Results