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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ASAP1_chr8_130047104_130448674	130049983	AGAACACA others(35): Show AGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 NA18963.hp1 HG03486.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0091 a0001c0001t0002g0180 a0001c0001t0001g0091 a0001c0001t0002g0180	2	283	0.0071	-42	c.47 others(53): Show c.4706_*4747delCCCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCC ATGTGTTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2120		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050012	TGGGGGGC others(35): Show TGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAATACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG03041.hp2 HG03579.hp2 HG02109.hp2 HG03041.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0036 a0001c0001t0001g0280 a0001c0001t0001g0281	3	259	0.0116	-42	c.46 others(53): Show c.4677_*4718delCATGTATTCCCCTCTGCCCCCATGTGTTCCCCTC TGCCCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2091		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050049	TACATGGG others(35): Show TACATGGGGGGCAGAGGAGAACACATGGAGGGCAGAGGAGAAC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0106 a0002c0002t0003g0106	1	213	0.0047	-42	c.46 others(53): Show c.4641_*4682delTTCTCCTCTGCCCTCCATGTGTTCTCCTCTGCCC CCCATGTA		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2055		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050116	TGGGGGGC others(35): Show TGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAATACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00673.hp1 HG01071.hp2 others(28): Show HG00544.hp2 HG00673.hp1 HG01071.hp2 HG01243.hp1 HG01261.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp2 HG02451.hp2 HG02523.hp1 HG02630.hp1 HG02723.hp2 HG02965.hp1 HG03239.hp2 HG03654.hp2 HG03704.hp2 HG03942.hp1 HG04204.hp1 HG04228.hp2 NA18940.hp1 NA18942.hp1 NA18952.hp1 NA18955.hp2 NA18975.hp2 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0013 a0001c0007t0007 others(6): Show a0001c0001t0001 a0001c0001t0013 a0001c0007t0007 a0002c0002t0001 a0002c0002t0003 a0002c0002t0010 a0002c0002t0016 a0002c0002t0020 a0002c0002t0022	a0001c0001t0001g0034 a0001c0001t0001g0201 a0001c0001t0001g0220 others(28): Show a0001c0001t0001g0034 a0001c0001t0001g0201 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0013g0308 a0001c0007t0007g0001 a0002c0002t0001g0061 a0002c0002t0003g0059 a0002c0002t0003g0065 a0002c0002t0003g0130 a0002c0002t0003g0131 a0002c0002t0003g0135 a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0003g0141 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0249 a0002c0002t0003g0251 a0002c0002t0003g0252 a0002c0002t0003g0259 a0002c0002t0003g0262 a0002c0002t0003g0282 a0002c0002t0003g0284 a0002c0002t0010g0050 a0002c0002t0016g0132 a0002c0002t0020g0299 a0002c0002t0020g0300 a0002c0002t0022g0242	31	274	0.1131	-42	c.45 others(53): Show c.4573_*4614delCATGTATTCCCCTCTGCCCCCATGTGTTCCCCTC TGCCCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					1987		chr8	TogoVar
ASB5_chr4_176208673_176274222	176218466	TATATATA others(35): Show TATATATATATTTGTATGATATATAAATATATATATTTGTATG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01168.hp2 HG01361.hp1 others(30): Show HG01123.hp1 HG01168.hp2 HG01361.hp1 HG02027.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02145.hp2 HG02257.hp2 HG02886.hp1 HG03130.hp1 HG03139.hp2 HG03579.hp1 HG03654.hp1 HG04228.hp1 NA18747.hp1 NA18942.hp1 NA18946.hp1 NA18952.hp1 NA18959.hp1 NA18965.hp2 NA18978.hp2 NA18981.hp2 NA18982.hp2 NA18985.hp2 NA18989.hp2 NA18992.hp1 NA19006.hp1 NA19012.hp1 NA19056.hp2 NA19058.hp2 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0081 others(28): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0106 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0312 a0001c0001t0001g0322 a0001c0001t0001g0354 a0001c0001t0001g0357	33	400	0.0825	-42	c.671 others(59): Show c.671-1499_671-1458delCATACAAATATATATATTTATATATCAT ACAAATATATATAT		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASB5_chr4_176208673_176274222	176219533	AATATATA others(35): Show AATATATATATGTATGATATATAAATATGTATATATTTGTATG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02717.hp2 NA18952.hp1 others(3): Show HG01975.hp2 HG02717.hp2 NA18952.hp1 NA18956.hp1 NA19054.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0201 others(3): Show a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0312 a0001c0001t0016g0161	6	372	0.0161	-42	c.670 others(59): Show c.670+1580_670+1621delCATACAAATATATACATATTTATATATC ATACATATATATAT		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASL_chr7_66070819_66098576	66093999	TGTCCTCC others(35): Show TGTCCTCCAGTCTGGGAAACAGAGCAAGACCCTGTCCCTAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	314	0.0032	-42	c.10 others(53): Show c.1088_*1129delGTCCTCCAGTCTGGGAAACAGAGCAAGACCCTGT CCCTAAAA		ASL	ENSG00000126522.17	transcript	ENST00000304874.14	protein_coding					424		chr7	TogoVar
ASPSCR1_chr17_81972629_82022406	81984955	ACCCCACA others(35): Show ACCCCACACACCTGCACACACCCACACACCTGCGTGCACACCC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG02970.hp2 others(6): Show HG02451.hp2 HG02647.hp2 HG02970.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 NA18906.hp1 NA19043.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0001c0017 a0004c0015 a0001c0004 a0001c0017 a0004c0015	a0001c0004t0001 a0001c0017t0001 a0004c0015t0001 a0001c0004t0001 a0001c0017t0001 a0004c0015t0001	a0001c0004t0001g0171 a0001c0004t0001g0172 a0001c0004t0001g0173 others(5): Show a0001c0004t0001g0171 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0174 a0001c0004t0001g0175 a0001c0004t0001g0176 a0001c0017t0001g0169 a0004c0015t0001g0024	9	364	0.0247	-42	c.274 others(57): Show c.274-530_274-489delCACACACCTGCGTGCACACCCCCCCACACA CCTGCACACACC		ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr17	TogoVar
ATAD3B_chr1_1466765_1502848	1472701	CTTCCTTT others(35): Show CTTCCTTTCCCCTGTGGCTTTAACGATTTGTAGCACGATGCAG	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0026 a0026	a0026c0023 a0026c0023	a0026c0023t0002 a0026c0023t0002	a0026c0023t0002g0040 a0026c0023t0002g0040	1	274	0.0036	-42	c.205 others(57): Show c.205+616_205+657delCTTTCCCCTGTGGCTTTAACGATTTGTAGC ACGATGCAGTTC		ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATG16L1_chr2_233246673_233300669	233296627	GTGTGTGT others(35): Show GTGTGTGTGTGTGTGTGTGTGTATGTATGTATGTATGTATGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02280.hp2 HG02886.hp2 others(3): Show HG02145.hp1 HG02280.hp2 HG02886.hp2 HG02895.hp1 NA19030.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0238 a0002c0002t0006g0239 a0002c0002t0006g0257 others(3): Show a0002c0002t0006g0238 a0002c0002t0006g0239 a0002c0002t0006g0257 a0002c0002t0006g0258 a0002c0002t0006g0260 a0002c0002t0006g0267	6	350	0.0171	-42	c.22 others(53): Show c.2278_*2319delTGTGTGTGTGTGTGTGTGTGTATGTATGTATGTA TGTATGTA		ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding					959		chr2	TogoVar
ATG2B_chr14_96274195_96368341	96308246	ATATATAC others(35): Show ATATATACACACATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0012 a0005c0008t0012	a0005c0008t0012g0102 a0005c0008t0012g0102	1	343	0.0029	-42	c.430 others(61): Show c.4303+1165_4303+1206delAAAAAATATATATATATATATATATA TATATGTGTGTATATA		ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41						chr14	TogoVar
ATG7_chr3_11267397_11562665	11487830	CTCCTCAC others(35): Show CTCCTCACTTCTCAGACGGGGCAGCCTGCCGGGCGGAGGGGCA	C C	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	290	0.0034	-42	c.207 others(63): Show c.2079+60925_2079+60966delCAGCCTGCCGGGCGGAGGGGCATC CTCACTTCTCAGACGGGG		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11537995	AGGCCAGG others(35): Show AGGCCAGGGAAAGGTGGAGGGAAGAGGGCATAGGTCCCAGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01070.hp2 others(12): Show HG00099.hp2 HG00639.hp2 HG01070.hp2 HG01192.hp2 HG01257.hp2 HG01516.hp1 HG02451.hp1 HG02486.hp2 HG02622.hp2 HG02738.hp1 HG03239.hp1 HG03831.hp1 HG03927.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0010 a0001c0002t0009 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0009 a0001c0002t0010 a0001c0002t0030 a0001c0002t0038 a0001c0002t0041	a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0169 others(12): Show a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0010g0164 a0001c0002t0009g0154 a0001c0002t0009g0155 a0001c0002t0009g0158 a0001c0002t0009g0161 a0001c0002t0009g0168 a0001c0002t0010g0163 a0001c0002t0010g0165 a0001c0002t0010g0167 a0001c0002t0030g0153 a0001c0002t0038g0166 a0001c0002t0041g0282	15	290	0.0517	-42	c.208 others(63): Show c.2080-16813_2080-16772delCCAGGGAAAGGTGGAGGGAAGAGG GCATAGGTCCCAGTGTGG		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP11A_chr13_112685038_112892168	112804226	CCCCCCAT others(35): Show CCCCCCATCCCCTCTCTGCCCTCCTTCCCTCCTTCACCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0180 a0001c0002t0001g0180	1	248	0.0040	-42	c.163 others(57): Show c.163-725_163-684delATCCCCTCTCTGCCCTCCTTCCCTCCTTCA CCTCCCTCCCCC		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145213	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01192.hp2 HG01346.hp2 others(22): Show HG00558.hp2 HG01192.hp2 HG01346.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG02109.hp2 HG02257.hp2 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02922.hp2 HG02970.hp2 HG03195.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG04228.hp2 NA19030.hp1 NA19030.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0006t0001 a0002c0002t0001 a0003c0003t0001 a0005c0005t0001	a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0139 others(22): Show a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0204 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0315 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0305 a0001c0001t0002g0314 a0001c0001t0002g0334 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0003g0194 a0001c0006t0001g0326 a0002c0002t0001g0014 a0002c0002t0001g0015 a0003c0003t0001g0288 a0005c0005t0001g0142	25	358	0.0698	-42	c.639 others(59): Show c.639+2283_639+2324delGAGAGAGAGAGAGAGAGAGAGAAAGAAA GAAAGAAAGAAAGA		ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546470	ATATGTGT others(35): Show ATATGTGTATATATATATATATATATATATATATATATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01106.hp2 HG01975.hp2 others(25): Show HG01081.hp2 HG01106.hp2 HG01975.hp2 HG01993.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02257.hp2 HG02273.hp2 HG02602.hp2 HG03491.hp2 HG03540.hp1 HG04204.hp1 HG04204.hp2 NA18747.hp1 NA18951.hp2 NA18971.hp2 NA18979.hp1 NA18988.hp2 NA18993.hp1 NA18999.hp1 NA19006.hp2 NA19012.hp1 NA19057.hp2 NA19060.hp1 NA19070.hp2 NA19082.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0228 a0001c0001t0001g0279 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0020 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0179 a0001c0001t0002g0193 a0001c0001t0002g0209 a0001c0001t0002g0219 a0001c0001t0002g0240 a0001c0001t0008g0049	28	403	0.0695	-42	c.-46 others(53): Show c.-4669_-4628delCATATATATATATATATATATATATATATATATA TACACATA		ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding					3894		chr2	TogoVar
ATP8B1_chr18_57641426_57808315	57661617	ATATGTGT others(35): Show ATATGTGTGCGTGTGTATGTATATACACACGCACACATATATG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02809.hp1 HG03486.hp1 HG02451.hp2 HG02809.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0049 a0001c0001t0002 a0001c0001t0010 a0001c0001t0049	a0001c0001t0002g0276 a0001c0001t0010g0151 a0001c0001t0049g0309 a0001c0001t0002g0276 a0001c0001t0010g0151 a0001c0001t0049g0309	3	312	0.0096	-42	c.241 others(59): Show c.2419-197_2419-156delCATATATGTGTGCGTGTGTATATACATA CACACGCACACATA		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	21/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57731308	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp2 HG00741.hp1 others(44): Show HG00544.hp1 HG00735.hp2 HG00741.hp1 HG01168.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02080.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03688.hp1 HG03831.hp2 HG04115.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18974.hp2 NA18991.hp2 NA19012.hp1 NA19062.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0005 a0001c0013 others(5): Show a0001c0001 a0001c0005 a0001c0013 a0001c0019 a0002c0002 a0003c0003 a0004c0004 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0021 a0001c0001t0039 a0001c0001t0040 a0001c0001t0050 a0001c0005t0045 a0001c0013t0035 a0001c0019t0031 a0002c0002t0014 a0002c0002t0019 a0002c0002t0037 a0003c0003t0042 a0004c0004t0046 a0008c0011t0006	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0014 others(44): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0002g0203 a0001c0001t0002g0279 a0001c0001t0002g0290 a0001c0001t0002g0295 a0001c0001t0003g0195 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0273 a0001c0001t0004g0019 a0001c0001t0006g0030 a0001c0001t0006g0045 a0001c0001t0006g0095 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0010g0157 a0001c0001t0010g0162 a0001c0001t0011g0158 a0001c0001t0011g0184 a0001c0001t0012g0150 a0001c0001t0013g0268 a0001c0001t0020g0193 a0001c0001t0021g0001 a0001c0001t0021g0002 a0001c0001t0039g0149 a0001c0001t0040g0148 a0001c0001t0050g0305 a0001c0005t0045g0278 a0001c0013t0035g0008 a0001c0019t0031g0062 a0002c0002t0014g0207 a0002c0002t0014g0236 a0002c0002t0014g0293 a0002c0002t0019g0048 a0002c0002t0037g0175 a0003c0003t0042g0182 a0004c0004t0046g0291 a0008c0011t0006g0028	47	189	0.2487	-42	c.181 others(57): Show c.181+277_181+318delATATATATATATATATATATATATATATAT ATATATATATAT		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57732321	GTGTATAT others(35): Show GTGTATATATGTGTGTATATATATGTATATATGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01168.hp1 HG01256.hp2 others(18): Show HG00741.hp1 HG01168.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01934.hp2 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02698.hp1 HG02738.hp2 HG02818.hp2 HG02970.hp2 HG03017.hp1 HG03540.hp2 HG03688.hp1 HG04115.hp2 HG04199.hp2 NA20752.hp1 NA20805.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0009 a0008c0011 a0001c0001 a0004c0009 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0004c0009t0004 a0008c0011t0006	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(18): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0002g0202 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0273 a0001c0001t0004g0105 a0001c0001t0006g0030 a0001c0001t0006g0045 a0001c0001t0006g0095 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0010g0162 a0001c0001t0013g0268 a0004c0009t0004g0004 a0008c0011t0006g0028	21	208	0.1010	-42	c.-25 others(57): Show c.-25-531_-25-490delTATATATACACATATATACATATATATACA CACATATATACA		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27						chr18	TogoVar
ATP8B3_chr19_1777075_1817276	1805648	AGGCCAGG others(35): Show AGGCCAGGGCCTAGGGCCTAGGGCCTCCTGCCCGTATGCACAC	A A	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	388	0.0026	-42	c.821 others(57): Show c.821+198_822-193delGTGTGCATACGGGCAGGAGGCCCTAGGCCC TAGGCCCTGGCC		ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	9/28						chr19	TogoVar
ATR_chr3_142444235_142583733	142496278	CTATATAT others(35): Show CTATATATATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0290 a0002c0002t0001g0290	1	22	0.0455	-42	c.589 others(57): Show c.5898+41_5898+82delTATATATATATATATATATATATATATATA TATATATATATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46						chr3	TogoVar
ATXN7_chr3_63858867_64008462	63896247	CTTTCTCT others(35): Show CTTTCTCTCCCACTGCTAACTGGCCATCATTTAAATACATCTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00438.hp2 others(40): Show HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00673.hp1 HG01168.hp1 HG01361.hp1 HG01515.hp2 HG02027.hp2 HG02056.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG03239.hp2 HG03669.hp1 HG04199.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18967.hp2 NA18973.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19004.hp2 NA19011.hp2 NA19054.hp1 NA19056.hp2 NA19063.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA19091.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0003c0025 a0004c0029	a0001c0001t0006 a0001c0001t0013 a0002c0002t0002 others(6): Show a0001c0001t0006 a0001c0001t0013 a0002c0002t0002 a0002c0003t0002 a0002c0003t0012 a0002c0003t0013 a0002c0003t0047 a0003c0025t0002 a0004c0029t0002	a0001c0001t0006g0214 a0001c0001t0006g0215 a0001c0001t0006g0234 others(40): Show a0001c0001t0006g0214 a0001c0001t0006g0215 a0001c0001t0006g0234 a0001c0001t0006g0235 a0001c0001t0013g0233 a0002c0002t0002g0288 a0002c0003t0002g0213 a0002c0003t0002g0217 a0002c0003t0002g0218 a0002c0003t0002g0221 a0002c0003t0002g0222 a0002c0003t0002g0232 a0002c0003t0002g0237 a0002c0003t0002g0241 a0002c0003t0002g0253 a0002c0003t0002g0254 a0002c0003t0002g0255 a0002c0003t0002g0256 a0002c0003t0002g0258 a0002c0003t0002g0259 a0002c0003t0002g0262 a0002c0003t0002g0263 a0002c0003t0002g0264 a0002c0003t0002g0273 a0002c0003t0002g0274 a0002c0003t0002g0275 a0002c0003t0002g0276 a0002c0003t0002g0278 a0002c0003t0002g0279 a0002c0003t0002g0280 a0002c0003t0002g0281 a0002c0003t0002g0282 a0002c0003t0002g0285 a0002c0003t0002g0293 a0002c0003t0002g0294 a0002c0003t0002g0296 a0002c0003t0012g0261 a0002c0003t0012g0283 a0002c0003t0012g0284 a0002c0003t0013g0238 a0002c0003t0047g0236 a0003c0025t0002g0257 a0004c0029t0002g0277	43	298	0.1443	-42	c.-11 others(61): Show c.-110-2148_-110-2107delCTCTCCCACTGCTAACTGGCCATCAT TTAAATACATCTTTTT		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
AUTS2_chr7_69593475_70798506	69876484	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01175.hp2 others(18): Show HG00099.hp2 HG01081.hp2 HG01175.hp2 HG01952.hp2 HG02055.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG04199.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0010	a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 others(13): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0003t0027 a0001c0005t0030 a0002c0002t0026 a0002c0002t0031 a0002c0002t0036 a0002c0010t0033	a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 others(18): Show a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0001t0015g0002 a0001c0001t0016g0003 a0001c0001t0018g0001 a0001c0001t0028g0021 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0027g0009 a0001c0005t0030g0013 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0002t0036g0017 a0002c0010t0033g0014	21	26	0.8077	-42	c.310 others(61): Show c.310-22782_310-22741delATATATATATATATATATATATATAT ATATATATATATATAT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70092071	TCCTAAGT others(35): Show TCCTAAGTATTATTTTTAATACTTAGGAGTATTTTAATACTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00597.hp1 others(46): Show HG00099.hp2 HG00280.hp1 HG00597.hp1 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01433.hp1 HG01884.hp1 HG01934.hp2 HG01952.hp2 HG02055.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG04199.hp1 HG04199.hp2 NA18612.hp2 NA18952.hp2 NA19030.hp2 NA19240.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0002 a0002c0010 a0003c0011 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(29): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0003t0008 a0001c0003t0027 a0001c0004t0012 a0001c0004t0013 a0001c0005t0030 a0001c0007t0006 a0002c0002t0024 a0002c0002t0026 a0002c0002t0031 a0002c0002t0036 a0002c0010t0033 a0003c0011t0007 a0004c0006t0003	a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 others(46): Show a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0006g0010 a0001c0001t0006g0038 a0001c0001t0007g0040 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0001t0014g0070 a0001c0001t0015g0002 a0001c0001t0016g0003 a0001c0001t0018g0001 a0001c0001t0019g0076 a0001c0001t0020g0029 a0001c0001t0022g0031 a0001c0001t0023g0075 a0001c0001t0028g0021 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0008g0039 a0001c0003t0008g0069 a0001c0003t0027g0009 a0001c0004t0012g0025 a0001c0004t0013g0024 a0001c0005t0030g0013 a0001c0007t0006g0027 a0002c0002t0024g0059 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0002t0036g0017 a0002c0010t0033g0014 a0003c0011t0007g0004 a0004c0006t0003g0030	49	76	0.6447	-42	c.523 others(61): Show c.523-26060_523-26019delCCTAAGTATTATTTTTAATACTTAGG AGTATTTTAATACTCC		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18						chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	GGTGTGTG others(35): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03098.hp2 HG03491.hp2 others(4): Show HG00423.hp2 HG03098.hp2 HG03491.hp2 HG03834.hp2 NA18906.hp1 NA18906.hp2 NA19078.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0022 a0002c0002t0001g0017 a0002c0002t0001g0042 others(2): Show a0001c0001t0001g0022 a0002c0002t0001g0017 a0002c0002t0001g0042 a0002c0002t0002g0001 a0002c0002t0002g0035	7	177	0.0395	-42	c.287 others(57): Show c.287+697_287+738delACACACACACACACACACACACACACACAC ACACACACACAC		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2						chr10	TogoVar
AZGP1_chr7_99961730_99981031	99971409	GGACAGGG others(35): Show GGACAGGGGTGAGTCTGATGCCTTCTCACGGGGGTATCAGCCT	G G	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0087	1	430	0.0023	-42	c.337 others(57): Show c.337+295_337+336delAGGCTGATACCCCCGTGAGAAGGCATCAGA CTCACCCCTGTC		AZGP1	ENSG00000160862.13	transcript	ENST00000292401.9	protein_coding	2/3						chr7	TogoVar
B3GNT6_chr11_77029398_77046973	77032666	TATATATA others(35): Show TATATATATATATACACATACATACATACATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02922.hp1 HG02258.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0020 a0001c0002t0005g0005 a0001c0002t0003g0020 a0001c0002t0005g0005	2	369	0.0054	-42	c.-18 others(53): Show c.-1812_-1771delATATATATATATACACATACATACATACATATAT ATATATAC		B3GNT6	ENSG00000198488.10	transcript	ENST00000622824.1	protein_coding					1731		chr11	TogoVar
B4GALNT2_chr17_49127769_49181840	49172198	TGGGGTCC others(35): Show TGGGGTCCTCCTCAGCATCAGTCTTGACATGGCTGCAACCAGG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0288 a0001c0001t0056g0288	1	378	0.0026	-42	c.24 others(53): Show c.2473_*2514delGGTCCTCCTCAGCATCAGTCTTGACATGGCTGCA ACCAGGGG		B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding	11/11				2473	INFO_REALIGN_3_PRIME	chr17	TogoVar
B4GALNT3_chr12_454939_568509	543476	GCTGAGGA others(35): Show GCTGAGGAGCTGGGACGGGCATGGGGTGCTCATCCTCCTGGAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp2 others(90): Show HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01106.hp1 HG01167.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01516.hp1 HG01517.hp1 HG01952.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02523.hp1 HG02523.hp2 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG03209.hp2 HG03491.hp2 HG03579.hp1 HG03654.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18957.hp1 NA18963.hp1 NA18963.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA20805.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0008 a0009 a0010 a0012 a0015 a0019 a0025	a0001c0001 a0001c0002 a0001c0010 others(11): Show a0001c0001 a0001c0002 a0001c0010 a0001c0041 a0002c0003 a0003c0004 a0004c0005 a0008c0012 a0009c0018 a0010c0011 a0012c0022 a0015c0043 a0019c0040 a0025c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0036 a0001c0001t0054 a0001c0001t0062 a0001c0001t0069 a0001c0001t0070 a0001c0001t0077 a0001c0001t0084 a0001c0002t0001 a0001c0002t0002 a0001c0002t0073 a0001c0010t0002 a0001c0041t0012 a0002c0003t0001 a0002c0003t0004 a0002c0003t0025 a0002c0003t0034 a0003c0004t0003 a0003c0004t0008 a0003c0004t0016 a0003c0004t0024 a0003c0004t0048 a0003c0004t0066 a0004c0005t0001 a0004c0005t0003 a0004c0005t0014 a0004c0005t0015 a0004c0005t0034 a0004c0005t0051 a0004c0005t0085 a0008c0012t0010 a0009c0018t0002 a0009c0018t0005 a0010c0011t0005 a0010c0011t0018 a0012c0022t0010 a0015c0043t0004 a0019c0040t0001 a0025c0029t0003	a0001c0001t0001g0008 a0001c0001t0001g0069 a0001c0001t0001g0116 others(90): Show a0001c0001t0001g0008 a0001c0001t0001g0069 a0001c0001t0001g0116 a0001c0001t0001g0164 a0001c0001t0001g0223 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0351 a0001c0001t0001g0358 a0001c0001t0001g0373 a0001c0001t0002g0054 a0001c0001t0002g0073 a0001c0001t0002g0082 a0001c0001t0002g0352 a0001c0001t0003g0010 a0001c0001t0003g0135 a0001c0001t0003g0246 a0001c0001t0003g0344 a0001c0001t0003g0350 a0001c0001t0004g0265 a0001c0001t0005g0326 a0001c0001t0006g0051 a0001c0001t0007g0083 a0001c0001t0008g0011 a0001c0001t0008g0244 a0001c0001t0008g0270 a0001c0001t0009g0355 a0001c0001t0011g0107 a0001c0001t0011g0218 a0001c0001t0011g0263 a0001c0001t0011g0370 a0001c0001t0012g0260 a0001c0001t0014g0104 a0001c0001t0014g0247 a0001c0001t0014g0255 a0001c0001t0015g0224 a0001c0001t0019g0258 a0001c0001t0020g0212 a0001c0001t0021g0325 a0001c0001t0021g0349 a0001c0001t0023g0168 a0001c0001t0025g0338 a0001c0001t0036g0213 a0001c0001t0054g0019 a0001c0001t0062g0382 a0001c0001t0069g0339 a0001c0001t0070g0343 a0001c0001t0077g0337 a0001c0001t0084g0162 a0001c0002t0001g0271 a0001c0002t0002g0064 a0001c0002t0073g0063 a0001c0010t0002g0151 a0001c0041t0012g0317 a0002c0003t0001g0058 a0002c0003t0001g0249 a0002c0003t0004g0348 a0002c0003t0025g0061 a0002c0003t0034g0056 a0003c0004t0003g0134 a0003c0004t0008g0070 a0003c0004t0016g0313 a0003c0004t0024g0171 a0003c0004t0048g0047 a0003c0004t0066g0309 a0004c0005t0001g0367 a0004c0005t0003g0094 a0004c0005t0003g0122 a0004c0005t0003g0124 a0004c0005t0014g0290 a0004c0005t0015g0060 a0004c0005t0034g0371 a0004c0005t0051g0123 a0004c0005t0085g0081 a0008c0012t0010g0389 a0009c0018t0002g0132 a0009c0018t0005g0170 a0010c0011t0005g0169 a0010c0011t0018g0009 a0010c0011t0018g0165 a0010c0011t0018g0334 a0012c0022t0010g0086 a0012c0022t0010g0192 a0015c0043t0004g0119 a0019c0040t0001g0268 a0025c0029t0003g0365	93	358	0.2598	-42	c.352 others(57): Show c.352-806_352-765delCGGGCATGGGGTGCTCATCCTCCTGGAACT GAGGAGCTGGGA		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	543678	TTCCTGGA others(35): Show TTCCTGGAGCTGAGGAGCTGGGACGGGCATGGGGTGCTCATCC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0023 a0023	a0023c0032 a0023c0032	a0023c0032t0002 a0023c0032t0002	a0023c0032t0002g0006 a0023c0032t0002g0006	1	392	0.0026	-42	c.352 others(57): Show c.352-653_352-612delGCTGAGGAGCTGGGACGGGCATGGGGTGCT CATCCTCCTGGA		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	543976	TGGAGCTG others(35): Show TGGAGCTGAGGAGCTGGGGCGGGCATGGGGTGCTCATCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp1 HG01517.hp1 HG00140.hp2 HG01106.hp1 HG01517.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0001c0002t0073 a0002c0003t0004 a0001c0002t0002 a0001c0002t0073 a0002c0003t0004	a0001c0002t0002g0064 a0001c0002t0073g0063 a0002c0003t0004g0348 a0001c0002t0002g0064 a0001c0002t0073g0063 a0002c0003t0004g0348	3	373	0.0080	-42	c.352 others(57): Show c.352-320_352-279delGGAGCTGAGGAGCTGGGGCGGGCATGGGGT GCTCATCTTCCC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALT4_chr3_119206742_119245878	119242788	GGGGGGGC others(35): Show GGGGGGGCAGCCCCCGCCTGGCCAGCCGCCCCGCCCGGCAAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0066 a0002c0002t0006g0066	1	434	0.0023	-42	c.-23 others(53): Show c.-2344_-2303delACTTGCCGGGCGGGGCGGCTGGCCAGGCGGGGGC TGCCCCCC		B4GALT4	ENSG00000121578.13	transcript	ENST00000393765.7	protein_coding					1911		chr3	TogoVar
BAIAP2L2_chr22_38079900_38115684	38086345	GTGCGGGA others(35): Show GTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG01071.hp1 NA19077.hp2 others(1): Show HG00099.hp1 HG01071.hp1 NA19077.hp2 NA20905.hp2	a0003 a0008 a0003 a0008	a0003c0003 a0008c0005 a0003c0003 a0008c0005	a0003c0003t0001 a0003c0003t0002 a0008c0005t0002 a0003c0003t0001 a0003c0003t0002 a0008c0005t0002	a0003c0003t0001g0004 a0003c0003t0002g0017 a0003c0003t0002g0018 others(1): Show a0003c0003t0001g0004 a0003c0003t0002g0017 a0003c0003t0002g0018 a0008c0005t0002g0016	4	16	0.2500	-42	c.132 others(51): Show c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCT CCCGCA	p.Ile others(13): Show p.Ile441_Arg454del	BAIAP2L2	ENSG00000128298.18	transcript	ENST00000381669.8	protein_coding	12/14	1522/2149	1322/1590	441/529			chr22	TogoVar
BAIAP2_chr17_81030151_81122434	81101085	TGTCCCCC others(35): Show TGTCCCCCGGCACAGTCCTGCGGCCCTGTGTCTCCCGCTAGGC	T T	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0245 a0001c0003t0001g0245	1	374	0.0027	-42	c.642 others(59): Show c.642+1013_642+1054delGGCACAGTCCTGCGGCCCTGTGTCTCCC GCTAGGCGTCCCCC		BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
BBS4_chr15_72681207_72743473	72725798	CCCCCATC others(35): Show CCCCCATCCCCCTTCCCCCATCCCCCTTTCCCCATCCCCCTTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0351 a0001c0001t0003g0351	1	222	0.0045	-42	c.587 others(59): Show c.587+1157_587+1198delCCCCCATCCCCCTTTCCCCATCCCCCTT TCCCCATCCCCCTT		BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72725812	CCCCCATC others(35): Show CCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0016 a0001c0003t0001g0016	1	251	0.0040	-42	c.587 others(59): Show c.587+1227_587+1268delTCCCCATCCCCCTTTCCCCATCCCCCTT TCCCCATCCCCCTT		BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72738980	ATTTAGGA others(35): Show ATTTAGGAGCTAATATCAACAGGAATTGGGGATTGATTGGATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0340 a0001c0001t0002g0340	1	396	0.0025	-42	c.13 others(53): Show c.1394_*1435delTTTAGGAGCTAATATCAACAGGAATTGGGGATTG ATTGGATG		BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding					508		chr15	TogoVar
BBS5_chr2_169474494_169511655	169504747	TTTTCGGC others(35): Show TTTTCGGCCAGCGCGTCGAGGGAGGGGCCAGCGACACATGGCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0073 a0001c0001t0027g0073	1	396	0.0025	-42	c.16 others(51): Show c.167_*208delTTCGGCCAGCGCGTCGAGGGAGGGGCCAGCGACACA TGGCCT		BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	12/12				167	INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL11B_chr14_99164287_99277197	99170997	TCTCTCGC others(35): Show TCTCTCGCTCTCTCTCCTCTACATCTGACATCTTAGAGATGGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0038 a0001c0001t0038g0038	1	348	0.0029	-42	c.31 others(53): Show c.3112_*3153delGCCATCTCTAAGATGTCAGATGTAGAGGAGAGAG AGCGAGAG		BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	4/4				3112		chr14	TogoVar
BCOR_chrX_40046251_40102958	40046522	TTATATAT others(35): Show TTATATATATAAATATATATATATATATGTATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02451.hp2 others(9): Show HG01891.hp1 HG02109.hp1 HG02451.hp2 HG02572.hp1 HG02698.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03139.hp1 HG03225.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0006t0002	a0001c0001t0001g0011 a0001c0001t0001g0192 a0001c0001t0001g0235 others(8): Show a0001c0001t0001g0011 a0001c0001t0001g0192 a0001c0001t0001g0235 a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0006t0001g0147 a0001c0006t0002g0037	12	192	0.0625	-42	c.55 others(53): Show c.5545_*5586delTATATATATATATACATATATATATATATATTTA TATATATA		BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding					4728		chrX	TogoVar
BDP1_chr5_71450651_71572820	71555959	CAGCATAA others(35): Show CAGCATAATTATAATATTGAATCTTCCTATTCAAAAACATGGT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01496.hp2 HG02300.hp1 others(1): Show HG00738.hp1 HG01496.hp2 HG02300.hp1 NA19006.hp2	a0002 a0028 a0002 a0028	a0002c0002 a0028c0037 a0002c0002 a0028c0037	a0002c0002t0003 a0002c0002t0012 a0028c0037t0003 a0002c0002t0003 a0002c0002t0012 a0028c0037t0003	a0002c0002t0003g0136 a0002c0002t0003g0177 a0002c0002t0012g0158 others(1): Show a0002c0002t0003g0136 a0002c0002t0003g0177 a0002c0002t0012g0158 a0028c0037t0003g0206	4	324	0.0123	-42	c.720 others(59): Show c.7201-925_7201-884delGCATAATTATAATATTGAATCTTCCTAT TCAAAAACATGGTA		BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	35/38					INFO_REALIGN_3_PRIME	chr5	TogoVar
BEND3_chr6_107060182_107120515	107073197	GTATGTAT others(35): Show GTATGTATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01255.hp2 HG01515.hp1 others(18): Show HG01175.hp1 HG01255.hp2 HG01515.hp1 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG02886.hp2 HG03130.hp2 HG03239.hp2 HG03831.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp1 NA18951.hp2 NA18988.hp1 NA19030.hp2 NA19066.hp1 NA19074.hp1 NA19081.hp1 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0005c0016	a0001c0001t0002 a0001c0001t0005 a0001c0001t0020 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0020 a0001c0002t0001 a0001c0004t0046 a0005c0016t0002	a0001c0001t0002g0013 a0001c0001t0002g0086 a0001c0001t0002g0098 others(18): Show a0001c0001t0002g0013 a0001c0001t0002g0086 a0001c0001t0002g0098 a0001c0001t0002g0122 a0001c0001t0002g0162 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0278 a0001c0001t0002g0295 a0001c0001t0002g0313 a0001c0001t0005g0022 a0001c0001t0005g0288 a0001c0001t0005g0309 a0001c0001t0005g0328 a0001c0001t0005g0331 a0001c0001t0005g0334 a0001c0001t0020g0169 a0001c0002t0001g0139 a0001c0002t0001g0198 a0001c0004t0046g0219 a0005c0016t0002g0108	21	189	0.1111	-42	c.241 others(59): Show c.241-2289_241-2248delTATATATATATATATATATATATATATA TATATATATACATA		BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3						chr6	TogoVar
BEND3_chr6_107060182_107120515	107073201	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02965.hp2 HG03098.hp2 HG02257.hp1 HG02965.hp2 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0049 a0001c0005t0007g0062 a0001c0005t0007g0070 a0001c0005t0007g0049 a0001c0005t0007g0062 a0001c0005t0007g0070	3	225	0.0133	-42	c.241 others(59): Show c.241-2293_241-2252delTATATATATATATATATATATATATATA TATATATATATATA		BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3						chr6	TogoVar
BEND3_chr6_107060182_107120515	107073223	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0105 a0001c0001t0012g0105	1	364	0.0027	-42	c.241 others(59): Show c.241-2315_241-2274delCATATATATATATATATATATATATATA TATATATATATATA		BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3						chr6	TogoVar
BEX5_chrX_102148712_102160977	102158138	CTTCTTCT others(35): Show CTTCTTCTTCTTCTTCTTATTATTATTATTATTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	312	0.0032	-42	c.-24 others(53): Show c.-2426_-2385delTAATAATAATAATAATAATAATAATAAGAAGAAG AAGAAGAA		BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding					2162		chrX	TogoVar
BFSP2_chr3_133395056_133480208	133446570	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01257.hp1 HG02055.hp1 others(3): Show HG01243.hp2 HG01257.hp1 HG02055.hp1 HG03471.hp2 NA18522.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 others(3): Show a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0002t0001g0059	6	35	0.1714	-42	c.490 others(57): Show c.490-718_490-677delTATATATATATATATATATATATATATATA TATATATATATA		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
BMAL1_chr11_13272790_13392266	13284198	GTATATAT others(35): Show GTATATATATATGTGTATATATATATATATGTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	178	0.0056	-42	c.-26 others(61): Show c.-263+6287_-263+6328delGTGTATATATATATATATGTGTGTGT ATATATATATATATAT		BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BMP5_chr6_55748653_55880590	55853172	TAAAATAA others(35): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0122 a0001c0002t0003g0122	1	318	0.0031	-42	c.490 others(61): Show c.490+21162_490+21203delTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTT		BMP5	ENSG00000112175.8	transcript	ENST00000370830.4	protein_coding	1/6						chr6	TogoVar
BNIP5_chr6_36310761_36341888	36324575	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01515.hp1 HG02615.hp2 others(4): Show HG00438.hp1 HG01515.hp1 HG02615.hp2 HG02895.hp2 HG03139.hp2 HG03225.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0038 a0001c0001t0001g0159 a0001c0001t0001g0190 others(4): Show a0001c0001t0001g0038 a0001c0001t0001g0159 a0001c0001t0001g0190 a0001c0001t0001g0235 a0001c0001t0002g0003 a0001c0001t0002g0063 a0001c0001t0002g0065	7	48	0.1458	-42	c.116 others(59): Show c.1169-427_1169-386delTATATATATATATATATATATATATATA TATATATATATATA		BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11						chr6	TogoVar
BRF1_chr14_105204286_105306001	105267940	AGAGGCCT others(35): Show AGAGGCCTTGCTCCCACGCGTGGCCAGGCACGCCATGGAGGCT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp1 HG00639.hp2 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0008 a0001c0001t0013	a0001c0001t0008g0070 a0001c0001t0013g0072 a0001c0001t0008g0070 a0001c0001t0013g0072	2	70	0.0286	-42	c.439 others(59): Show c.439+4739_439+4780delAGCCTCCATGGCGTGCCTGGCCACGCGT GGGAGCAAGGCCTC		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	3/17						chr14	TogoVar

Search by Variant

Search

Search Results