Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ASB5_chr4_176208673_176274222	176219556	AATATGTA others(44): Show AATATGTATATATTTGTATGATATATATATATATATATATATATATATAT AT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	410	0.0024	-51	c.670 others(68): Show c.670+1548_670+1598delATATATATATATATATATATATATATAT ATATCATACAAATATATACATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASMTL_chrX_1398139_1457909	1402667	TCCCCAAT others(44): Show TCCCCAATGCAGCTTCCTTCCCCCTCCCAAAATGCAGCCTCTGTCCCCAC TC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00438.hp2 others(75): Show HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG01081.hp1 HG01123.hp1 HG01192.hp2 HG01257.hp2 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03669.hp1 HG03834.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp2 NA18940.hp2 NA18950.hp1 NA18950.hp2 NA18963.hp2 NA18970.hp1 NA18973.hp1 NA18980.hp1 NA18984.hp1 NA18988.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA19007.hp1 NA19011.hp1 NA19057.hp1 NA19068.hp1 NA19074.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0016 a0019	a0001c0001 a0001c0008 a0002c0003 others(20): Show a0001c0001 a0001c0008 a0002c0003 a0002c0004 a0002c0009 a0002c0012 a0002c0015 a0002c0031 a0002c0033 a0002c0034 a0003c0002 a0003c0005 a0003c0029 a0004c0006 a0005c0037 a0005c0038 a0006c0016 a0008c0018 a0009c0020 a0010c0041 a0011c0023 a0016c0028 a0019c0021	a0001c0001t0001 a0001c0008t0001 a0002c0003t0001 others(22): Show a0001c0001t0001 a0001c0008t0001 a0002c0003t0001 a0002c0004t0001 a0002c0009t0001 a0002c0012t0001 a0002c0015t0001 a0002c0031t0001 a0002c0033t0001 a0002c0034t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0005t0001 a0003c0029t0001 a0004c0006t0001 a0005c0037t0001 a0005c0038t0001 a0006c0016t0001 a0008c0018t0001 a0009c0020t0001 a0010c0041t0001 a0011c0023t0001 a0016c0028t0001 a0019c0021t0001	a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0053 others(74): Show a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0085 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0129 a0001c0008t0001g0154 a0002c0003t0001g0009 a0002c0003t0001g0093 a0002c0003t0001g0176 a0002c0004t0001g0030 a0002c0004t0001g0038 a0002c0004t0001g0077 a0002c0004t0001g0078 a0002c0004t0001g0089 a0002c0004t0001g0096 a0002c0004t0001g0134 a0002c0004t0001g0149 a0002c0009t0001g0008 a0002c0009t0001g0072 a0002c0009t0001g0111 a0002c0012t0001g0074 a0002c0012t0001g0095 a0002c0012t0001g0103 a0002c0015t0001g0001 a0002c0031t0001g0131 a0002c0033t0001g0171 a0002c0034t0001g0136 a0003c0002t0001g0003 a0003c0002t0001g0012 a0003c0002t0001g0027 a0003c0002t0001g0028 a0003c0002t0001g0047 a0003c0002t0001g0064 a0003c0002t0001g0079 a0003c0002t0001g0080 a0003c0002t0001g0108 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0130 a0003c0002t0001g0140 a0003c0002t0001g0141 a0003c0002t0001g0142 a0003c0002t0001g0144 a0003c0002t0001g0150 a0003c0002t0001g0157 a0003c0002t0001g0158 a0003c0002t0001g0159 a0003c0002t0001g0163 a0003c0002t0001g0165 a0003c0002t0001g0170 a0003c0002t0001g0172 a0003c0002t0001g0173 a0003c0002t0002g0183 a0003c0002t0003g0100 a0003c0005t0001g0036 a0003c0005t0001g0037 a0003c0005t0001g0090 a0003c0005t0001g0097 a0003c0005t0001g0139 a0003c0005t0001g0146 a0003c0005t0001g0179 a0003c0029t0001g0151 a0004c0006t0001g0016 a0005c0037t0001g0162 a0005c0038t0001g0113 a0006c0016t0001g0166 a0006c0016t0001g0169 a0008c0018t0001g0181 a0008c0018t0001g0182 a0009c0020t0001g0063 a0010c0041t0001g0161 a0011c0023t0001g0155 a0016c0028t0001g0160 a0019c0021t0001g0101	78	185	0.4216	-51	c.55 others(60): Show c.551_*601delGAGTGGGGACAGAGGCTGCATTTTGGGAGGGGGAAG GAAGCTGCATTGGGG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		471		chrX	TogoVar
ASTN2_chr9_116418112_117420057	117016634	ATATATAT others(44): Show ATATATATATATATATATATATAACCTATATATATGTTACATATATATAG GT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02886.hp1 NA19043.hp1 HG01243.hp2 HG02886.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0008 a0001c0003 a0001c0005 a0001c0008	a0001c0003t0004 a0001c0005t0005 a0001c0008t0005 a0001c0003t0004 a0001c0005t0005 a0001c0008t0005	a0001c0003t0004g0085 a0001c0005t0005g0007 a0001c0008t0005g0073 a0001c0003t0004g0085 a0001c0005t0005g0007 a0001c0008t0005g0073	3	102	0.0294	-51	c.142 others(70): Show c.1424-8426_1424-8376delACCTATATATATGTAACATATATATA GGTTATATATATATATATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22			chr9	TogoVar
ATAD3B_chr1_1466765_1502848	1481935	TGTGGCGT others(44): Show TGTGGCGTGGGCCGGTCCGTGGTGCGGGCCTGTCCGTGGCCTTAGCCTGT TG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01516.hp1 HG01517.hp1 others(5): Show HG00642.hp2 HG01516.hp1 HG01517.hp1 HG02300.hp2 HG02647.hp2 HG03471.hp2 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0008 a0001c0011 a0001c0019 a0001c0008 a0001c0011 a0001c0019	a0001c0008t0012 a0001c0008t0027 a0001c0011t0010 others(2): Show a0001c0008t0012 a0001c0008t0027 a0001c0011t0010 a0001c0011t0024 a0001c0019t0010	a0001c0008t0012g0096 a0001c0008t0012g0098 a0001c0008t0012g0100 others(4): Show a0001c0008t0012g0096 a0001c0008t0012g0098 a0001c0008t0012g0100 a0001c0008t0027g0099 a0001c0011t0010g0097 a0001c0011t0024g0036 a0001c0019t0010g0024	8	276	0.0290	-51	c.515 others(66): Show c.515-181_515-131delTGCGGGCCTGTCCGTGGCCTTAGCCTGTTG GTGGCGTGGGCCGGTCCGTGG	ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2B2_chr3_10319023_10510586	10507910	AAGCCCAG others(44): Show AAGCCCAGGGCTGCCTGCATGCGCAGGCCATCATGAGTGTGGGCTCACTG GG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00423.hp1 others(52): Show HG00099.hp1 HG00140.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01952.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02155.hp2 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03017.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18947.hp2 NA18950.hp2 NA18961.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18979.hp2 NA19003.hp2 NA19010.hp1 NA19062.hp1 NA19062.hp2 NA19086.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0023 a0001c0028 a0001c0033 a0003c0020	a0001c0001t0001 a0001c0001t0014 a0001c0001t0015 others(31): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0039 a0001c0001t0047 a0001c0001t0055 a0001c0002t0003 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0008 a0001c0004t0001 a0001c0004t0002 a0001c0004t0040 a0001c0005t0001 a0001c0005t0002 a0001c0005t0016 a0001c0005t0032 a0001c0006t0001 a0001c0006t0003 a0001c0006t0011 a0001c0007t0001 a0001c0007t0003 a0001c0009t0001 a0001c0010t0005 a0001c0012t0022 a0001c0023t0009 a0001c0028t0006 a0001c0033t0003 a0003c0020t0015	a0001c0001t0001g0079 a0001c0001t0001g0254 a0001c0001t0001g0260 others(52): Show a0001c0001t0001g0079 a0001c0001t0001g0254 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0014g0259 a0001c0001t0015g0108 a0001c0001t0017g0278 a0001c0001t0017g0279 a0001c0001t0039g0069 a0001c0001t0047g0277 a0001c0001t0055g0207 a0001c0002t0003g0162 a0001c0002t0008g0274 a0001c0002t0012g0105 a0001c0002t0012g0107 a0001c0002t0012g0109 a0001c0002t0013g0110 a0001c0003t0001g0067 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0261 a0001c0003t0001g0263 a0001c0003t0001g0265 a0001c0003t0001g0268 a0001c0003t0002g0196 a0001c0003t0007g0192 a0001c0003t0007g0193 a0001c0003t0008g0240 a0001c0004t0001g0176 a0001c0004t0001g0239 a0001c0004t0001g0245 a0001c0004t0001g0258 a0001c0004t0002g0264 a0001c0004t0040g0282 a0001c0005t0001g0255 a0001c0005t0002g0270 a0001c0005t0016g0197 a0001c0005t0016g0253 a0001c0005t0032g0106 a0001c0006t0001g0171 a0001c0006t0003g0033 a0001c0006t0003g0071 a0001c0006t0003g0201 a0001c0006t0003g0288 a0001c0006t0011g0269 a0001c0007t0001g0285 a0001c0007t0003g0276 a0001c0009t0001g0043 a0001c0009t0001g0266 a0001c0010t0005g0161 a0001c0012t0022g0199 a0001c0023t0009g0280 a0001c0028t0006g0275 a0001c0033t0003g0273 a0003c0020t0015g0267	55	290	0.1897	-51	c.-28 others(62): Show c.-2816_-2766delCCCAGTGAGCCCACACTCATGATGGCCTGCGCAT GCAGGCAGCCCTGGGCT	ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding		2325		chr3	TogoVar
ATP9B_chr18_79064394_79383283	79145647	CGGGGGAG others(44): Show CGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCG GG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03516.hp2 HG02559.hp1 HG03516.hp2	a0001 a0014 a0001 a0014	a0001c0010 a0014c0022 a0001c0010 a0014c0022	a0001c0010t0004 a0014c0022t0004 a0001c0010t0004 a0014c0022t0004	a0001c0010t0004g0277 a0014c0022t0004g0276 a0001c0010t0004g0277 a0014c0022t0004g0276	2	298	0.0067	-51	c.726 others(68): Show c.726+1790_726+1840delGGGAGCTGGCGGTGTGCAGAGTGACTGA AGGTGCAGGCTGCATGTCGGGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79225585	CTGGGTCC others(44): Show CTGGGTCCCGCAGTCGCAGGGCGGCCACTGTCTTCAGCGTCTGAGTGACT GT	C C	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	298	0.0034	-51	c.110 others(72): Show c.1107+11612_1107+11662delCGCAGGGCGGCCACTGTCTTCAGC GTCTGAGTGACTGTTGGGTCCCGCAGT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79225686	GTTGGGTC others(44): Show GTTGGGTCCCGCAGTTGCAGGGCGGCCACTGTCTTCAGCGTCTGAGTGAC TC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02572.hp2 HG02818.hp2 others(1): Show HG01106.hp2 HG02572.hp2 HG02818.hp2 HG03239.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0003 a0002c0002t0001 a0001c0004t0003 a0002c0002t0001	a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 others(1): Show a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 a0002c0002t0001g0161	4	298	0.0134	-51	c.110 others(72): Show c.1107+11663_1107+11713delTGCAGGGCGGCCACTGTCTTCAGC GTCTGAGTGACTCTTGGGTCCCGCAGT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79236752	GCACGGTC others(44): Show GCACGGTCCGTGCACGAGTCAGTGTCCACACCTGCCCCTTCCCCACTGTG TA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0002 a0001c0039t0002	a0001c0039t0002g0266 a0001c0039t0002g0266	1	298	0.0034	-51	c.110 others(72): Show c.1108-16534_1108-16484delACTGTGTACACGGTCCGTGCACGA GTCAGTGTCCACACCTGCCCCTTCCCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79237076	AGTCCGTG others(44): Show AGTCCGTGCACGAGTCAGTGTCCACACCTGCCCCTTCCCCACTGTGTACA CG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0236 a0002c0002t0002g0236	1	298	0.0034	-51	c.110 others(72): Show c.1108-16265_1108-16215delACTGTGTACACGGTCCGTGCACGA GTCAGTGTCCACACCTGCCCCTTCCCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79320766	CTGGGAGG others(44): Show CTGGGAGGGAGCTTACATACTAGGAAACTCCGGGATGCTGTGGGTTTTAC GT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(71): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01109.hp2 HG01168.hp1 HG01346.hp2 HG01361.hp2 HG01517.hp1 HG01975.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG03239.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18970.hp1 NA18971.hp2 NA18977.hp1 NA18980.hp2 NA18990.hp1 NA18998.hp2 NA19001.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0009 a0011 a0017	a0001c0003 a0001c0004 a0002c0002 others(6): Show a0001c0003 a0001c0004 a0002c0002 a0002c0005 a0002c0033 a0007c0031 a0009c0034 a0011c0035 a0017c0019	a0001c0003t0002 a0001c0004t0002 a0002c0002t0002 others(7): Show a0001c0003t0002 a0001c0004t0002 a0002c0002t0002 a0002c0002t0003 a0002c0005t0002 a0002c0033t0002 a0007c0031t0002 a0009c0034t0002 a0011c0035t0002 a0017c0019t0002	a0001c0003t0002g0135 a0001c0003t0002g0149 a0001c0004t0002g0109 others(71): Show a0001c0003t0002g0135 a0001c0003t0002g0149 a0001c0004t0002g0109 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0185 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0196 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0210 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0252 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0003g0204 a0002c0005t0002g0207 a0002c0005t0002g0208 a0002c0005t0002g0209 a0002c0005t0002g0211 a0002c0033t0002g0214 a0007c0031t0002g0251 a0009c0034t0002g0186 a0011c0035t0002g0201 a0017c0019t0002g0076	74	298	0.2483	-51	c.177 others(70): Show c.1774-8347_1774-8297delTCCGGGATGCTGTGGGTTTTACGTTG GGAGGGAGCTTACATACTAGGAAAC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AXIN1_chr16_282440_357723	321213	CTTCCATA others(44): Show CTTCCATACCCAGGCAGGAGCCGCCACCCTCCCTGGTAGTAAGGCACCAC AT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01261.hp2 HG01361.hp1 others(6): Show HG00738.hp1 HG01261.hp2 HG01361.hp1 HG01934.hp1 HG02145.hp2 HG02559.hp1 HG03195.hp2 HG03927.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0014	a0001c0001t0005 a0001c0003t0001 a0001c0004t0026 others(3): Show a0001c0001t0005 a0001c0003t0001 a0001c0004t0026 a0001c0005t0003 a0001c0009t0038 a0001c0014t0020	a0001c0001t0005g0327 a0001c0003t0001g0362 a0001c0003t0001g0363 others(6): Show a0001c0001t0005g0327 a0001c0003t0001g0362 a0001c0003t0001g0363 a0001c0004t0026g0335 a0001c0004t0026g0348 a0001c0005t0003g0105 a0001c0009t0038g0275 a0001c0014t0020g0070 a0001c0014t0020g0071	9	378	0.0238	-51	c.879 others(68): Show c.879-6581_879-6531delATGTGGTGCCTTACTACCAGGGAGGGTG GCGGCTCCTGCCTGGGTATGGAA	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
B3GNTL1_chr17_82937149_83056770	83003337	CTCCCGCC others(44): Show CTCCCGCCCTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGC AG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0235 a0002c0005t0007g0235	1	266	0.0038	-51	c.459 others(68): Show c.459+1727_459+1777delCTGCAGAGAGTGGGAGGGCGAGCTCAGG AATCCCACACGCGGAGGGCGGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83052555	GGAGGTCC others(44): Show GGAGGTCCTCCAGGAGGAGGGGTGCCCAGGAGTGAGGCCCTCACCCCACC GT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00609.hp1 others(45): Show HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01496.hp2 HG02056.hp2 HG02132.hp1 HG02155.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG03130.hp1 HG03225.hp1 HG03579.hp1 HG06807.hp2 NA18612.hp1 NA18945.hp1 NA18947.hp2 NA18964.hp1 NA18966.hp2 NA18973.hp1 NA18983.hp2 NA18986.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0001c0013 others(4): Show a0001c0004 a0001c0006 a0001c0013 a0001c0014 a0001c0016 a0002c0015 a0002c0022	a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 others(18): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0026 a0001c0004t0031 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0006t0008 a0001c0006t0010 a0001c0006t0011 a0001c0006t0018 a0001c0006t0023 a0001c0006t0033 a0001c0013t0012 a0001c0014t0001 a0001c0014t0002 a0001c0014t0018 a0001c0016t0001 a0002c0015t0003 a0002c0022t0003	a0001c0004t0001g0002 a0001c0004t0001g0021 a0001c0004t0001g0025 others(43): Show a0001c0004t0001g0002 a0001c0004t0001g0021 a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0028 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0036 a0001c0004t0001g0037 a0001c0004t0001g0039 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0045 a0001c0004t0001g0048 a0001c0004t0002g0050 a0001c0004t0010g0034 a0001c0004t0026g0046 a0001c0004t0031g0035 a0001c0006t0001g0016 a0001c0006t0001g0017 a0001c0006t0001g0022 a0001c0006t0002g0007 a0001c0006t0002g0024 a0001c0006t0002g0031 a0001c0006t0002g0040 a0001c0006t0006g0006 a0001c0006t0006g0038 a0001c0006t0006g0047 a0001c0006t0008g0020 a0001c0006t0010g0010 a0001c0006t0011g0018 a0001c0006t0011g0027 a0001c0006t0018g0015 a0001c0006t0023g0030 a0001c0006t0033g0044 a0001c0013t0012g0001 a0001c0013t0012g0013 a0001c0013t0012g0014 a0001c0014t0001g0012 a0001c0014t0002g0011 a0001c0014t0018g0049 a0001c0016t0001g0008 a0001c0016t0001g0009 a0002c0015t0003g0023 a0002c0015t0003g0043 a0002c0022t0003g0029	48	266	0.1805	-51	c.-85 others(60): Show c.-855_-805delACGGTGGGGTGAGGGCCTCACTCCTGGGCACCCCTC CTCCTGGAGGACCTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		786		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83052861	GGAGGTCC others(44): Show GGAGGTCCCCCAGGAGGAGGGGTGCCCGGGAGTGAGGCCCTGACCCCACC GC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02148.hp1 HG00741.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0172 a0001c0001t0001g0173	2	266	0.0075	-51	c.-11 others(62): Show c.-1161_-1111delGCGGTGGGGTCAGGGCCTCACTCCCGGGCACCCC TCCTCCTGGGGGACCTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		1092		chr17	TogoVar
B4GALNT2_chr17_49127769_49181840	49150257	GCCCCCCG others(44): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCA GC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02083.hp1 HG00639.hp2 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0104 a0001c0001t0001g0082 a0001c0001t0001g0104	2	380	0.0053	-51	c.354 others(68): Show c.354-2536_354-2486delGCCCGGCCAGCCGCCCCGTCTGGGAGGG AGGTGGGGGGGGTCAGCCCCCCC	B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
B4GALNT3_chr12_454939_568509	545657	GTGGGGAG others(44): Show GTGGGGAGGAGCGAGGTGTGGGGAGGAGCGAGGTGTGGGGAGGAGTGAGG AA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0174 a0003c0004t0005g0174	1	394	0.0025	-51	c.639 others(66): Show c.639+221_639+271delTGTGGGGAGGAGTGAGGAATGGGGAGGAGC GAGGTGTGGGGAGGAGCGAGG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	545953	CGAGGAGT others(44): Show CGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGATGAGAGGAGTGGGGAGGT GA	C C	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	394	0.0025	-51	c.639 others(66): Show c.639+497_639+547delGGTGAGAGGAGTGGGGAGATGAGAGGAGTG GGGAGGTGAGAGGAGTGGGGA	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BACE2_chr21_41163160_41287530	41244527	TAATGTCA others(44): Show TAATGTCATCAGTTAAGGCAGGGACTGGCCATTTTCACTTCTTTTGTGGT GG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01099.hp2 others(67): Show HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0005	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(29): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0053 a0001c0001t0054 a0001c0001t0061 a0001c0001t0063 a0001c0002t0001 a0001c0002t0013 a0001c0003t0005 a0001c0006t0052 a0002c0005t0041	a0001c0001t0004g0023 a0001c0001t0004g0072 a0001c0001t0004g0074 others(67): Show a0001c0001t0004g0023 a0001c0001t0004g0072 a0001c0001t0004g0074 a0001c0001t0004g0141 a0001c0001t0004g0202 a0001c0001t0004g0214 a0001c0001t0004g0228 a0001c0001t0004g0241 a0001c0001t0005g0005 a0001c0001t0005g0008 a0001c0001t0005g0024 a0001c0001t0005g0030 a0001c0001t0005g0058 a0001c0001t0005g0140 a0001c0001t0005g0147 a0001c0001t0005g0162 a0001c0001t0005g0240 a0001c0001t0005g0243 a0001c0001t0005g0246 a0001c0001t0006g0171 a0001c0001t0006g0254 a0001c0001t0007g0002 a0001c0001t0007g0050 a0001c0001t0007g0075 a0001c0001t0007g0078 a0001c0001t0007g0089 a0001c0001t0007g0113 a0001c0001t0007g0210 a0001c0001t0007g0244 a0001c0001t0007g0271 a0001c0001t0008g0080 a0001c0001t0008g0086 a0001c0001t0008g0255 a0001c0001t0008g0257 a0001c0001t0009g0229 a0001c0001t0011g0063 a0001c0001t0011g0088 a0001c0001t0011g0092 a0001c0001t0011g0264 a0001c0001t0012g0152 a0001c0001t0014g0003 a0001c0001t0014g0177 a0001c0001t0014g0250 a0001c0001t0017g0146 a0001c0001t0017g0270 a0001c0001t0019g0009 a0001c0001t0019g0211 a0001c0001t0020g0150 a0001c0001t0020g0266 a0001c0001t0021g0027 a0001c0001t0021g0085 a0001c0001t0029g0145 a0001c0001t0031g0239 a0001c0001t0033g0037 a0001c0001t0034g0077 a0001c0001t0035g0112 a0001c0001t0037g0163 a0001c0001t0038g0103 a0001c0001t0039g0004 a0001c0001t0040g0084 a0001c0001t0042g0248 a0001c0001t0053g0076 a0001c0001t0054g0170 a0001c0001t0061g0098 a0001c0001t0063g0174 a0001c0002t0001g0159 a0001c0002t0013g0068 a0001c0003t0005g0051 a0001c0006t0052g0263 a0002c0005t0041g0138	70	272	0.2574	-51	c.882 others(68): Show c.882+1039_882+1089delGACTGGCCATTTTCACTTCTTTTGTGGT GGAATGTCATCAGTTAAGGCAGG	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
BACE2_chr21_41163160_41287530	41244549	GACTGGCC others(44): Show GACTGGCCATTTTCACTTCTTTTGTGGTGGAATGTCATCAGTTAAGGCAG GA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00738.hp2 HG01074.hp2 others(56): Show HG00408.hp1 HG00738.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02257.hp2 HG02602.hp1 HG02622.hp2 HG02895.hp2 HG03453.hp2 HG03490.hp1 HG03654.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18950.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18988.hp1 NA18993.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19063.hp1 NA19063.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0002t0001 a0001c0002t0056	a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0226 others(55): Show a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0226 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0002g0001 a0001c0001t0003g0013 a0001c0001t0003g0015 a0001c0001t0003g0041 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0083 a0001c0001t0003g0099 a0001c0001t0003g0109 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0153 a0001c0001t0003g0186 a0001c0001t0003g0191 a0001c0001t0003g0224 a0001c0001t0003g0230 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0038 a0001c0001t0004g0044 a0001c0001t0004g0095 a0001c0001t0004g0104 a0001c0001t0004g0129 a0001c0001t0004g0158 a0001c0001t0004g0172 a0001c0001t0004g0200 a0001c0001t0006g0169 a0001c0001t0009g0119 a0001c0001t0015g0067 a0001c0001t0015g0090 a0001c0001t0015g0133 a0001c0001t0048g0130 a0001c0001t0049g0032 a0001c0001t0050g0195 a0001c0002t0001g0025 a0001c0002t0001g0043 a0001c0002t0001g0048 a0001c0002t0001g0061 a0001c0002t0001g0111 a0001c0002t0001g0115 a0001c0002t0001g0118 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0001g0151 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0225 a0001c0002t0001g0237 a0001c0002t0001g0242 a0001c0002t0001g0256 a0001c0002t0001g0259 a0001c0002t0056g0192	59	272	0.2169	-51	c.882 others(68): Show c.882+1042_882+1092delTGGCCATTTTCACTTCTTTTGTGGTGGA ATGTCATCAGTTAAGGCAGGAAC	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
BACE2_chr21_41163160_41287530	41244552	TGGCCATT others(44): Show TGGCCATTTTCACTTCTTTTGTGGTGGAATGTCATCAGTTAAGGCAGGAA CC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02451.hp1 HG02572.hp1 others(2): Show HG00741.hp2 HG02451.hp1 HG02572.hp1 HG02965.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0001t0012 a0001c0001t0030 others(1): Show a0001c0001t0011 a0001c0001t0012 a0001c0001t0030 a0001c0003t0012	a0001c0001t0011g0071 a0001c0001t0012g0137 a0001c0001t0012g0142 others(2): Show a0001c0001t0011g0071 a0001c0001t0012g0137 a0001c0001t0012g0142 a0001c0001t0030g0208 a0001c0003t0012g0207	5	272	0.0184	-51	c.882 others(68): Show c.882+1065_882+1115delGTGGAATGTCATCAGTTAAGGCAGGAAC CGGCCATTTTCACTTCTTTTGTG	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
BAZ2B_chr2_159313979_159621548	159325032	TTATATAT others(44): Show TTATATATATATTATATATATATATATATTATATATATATATATATTATA TA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00642.hp1 others(34): Show HG00140.hp1 HG00140.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01978.hp1 HG02109.hp2 HG02135.hp2 HG02572.hp2 HG02630.hp2 HG02717.hp1 HG03017.hp1 HG03098.hp2 HG03942.hp1 HG04184.hp2 HG06807.hp2 NA18906.hp2 NA18942.hp2 NA18961.hp2 NA18963.hp1 NA18974.hp1 NA18980.hp2 NA18983.hp2 NA18999.hp2 NA19057.hp2 NA19070.hp1 NA19079.hp2 NA19081.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0014	a0001c0001 a0001c0008 a0002c0002 others(5): Show a0001c0001 a0001c0008 a0002c0002 a0002c0007 a0003c0003 a0004c0004 a0004c0009 a0014c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0008t0002 a0002c0002t0001 a0002c0002t0002 a0002c0007t0002 a0003c0003t0001 a0004c0004t0001 a0004c0004t0002 a0004c0009t0001 a0014c0024t0001	a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0057 others(34): Show a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0002g0158 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0191 a0001c0001t0002g0197 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0004g0003 a0001c0001t0004g0110 a0001c0001t0005g0130 a0001c0008t0002g0159 a0002c0002t0001g0043 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0098 a0002c0002t0002g0143 a0002c0002t0002g0201 a0002c0007t0002g0185 a0003c0003t0001g0009 a0003c0003t0001g0063 a0003c0003t0001g0065 a0003c0003t0001g0082 a0004c0004t0001g0070 a0004c0004t0002g0203 a0004c0009t0001g0010 a0014c0024t0001g0088	37	216	0.1713	-51	c.621 others(67): Show c.6210-129_6210-79delTATATAATATATATATATATATAATATAT ATATATATATAATATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159325066	ATATATAT others(44): Show ATATATATATATTATATATATATATATTATATATATATATATATATATAT TT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0031 a0003c0003t0001g0031	1	216	0.0046	-51	c.621 others(68): Show c.6210-163_6210-113delAAATATATATATATATATATATATAATA TATATATATATAATATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467267	ATGGTGGT others(44): Show ATGGTGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTGAT GG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01192.hp2 HG02027.hp2 others(20): Show HG00597.hp1 HG01192.hp2 HG02027.hp2 HG02055.hp2 HG02129.hp2 HG02135.hp2 HG02486.hp2 HG02572.hp2 HG02630.hp2 HG02809.hp2 HG03130.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 NA18944.hp2 NA18962.hp2 NA18983.hp2 NA18988.hp2 NA18990.hp1 NA19084.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0032 a0001c0001t0053 a0001c0001t0064 a0001c0001t0066 a0001c0003t0003	a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0036 others(20): Show a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0065 a0001c0001t0002g0097 a0001c0001t0002g0125 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0157 a0001c0001t0003g0160 a0001c0001t0005g0227 a0001c0001t0013g0250 a0001c0001t0015g0190 a0001c0001t0018g0207 a0001c0001t0018g0211 a0001c0001t0019g0012 a0001c0001t0021g0093 a0001c0001t0023g0200 a0001c0001t0032g0037 a0001c0001t0053g0191 a0001c0001t0064g0247 a0001c0001t0066g0258 a0001c0003t0003g0178	23	262	0.0878	-51	c.487 others(68): Show c.487+1414_487+1464delCCATCACCACCACCACCATTACCACCAC CATCACTACCACCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL9_chr1_147536501_147631216	147541070	TGAGAGAG others(44): Show TGAGAGAGAGAGAGAAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAG GA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01256.hp1 HG01261.hp1 others(27): Show HG00558.hp1 HG01256.hp1 HG01261.hp1 HG01433.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02572.hp2 HG02723.hp1 HG02735.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03225.hp2 HG03486.hp2 HG03579.hp1 NA18906.hp1 NA18944.hp1 NA18945.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18969.hp1 NA18969.hp2 NA18977.hp1 NA19007.hp1 NA19012.hp2 NA19090.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0024 a0002c0003t0001	a0001c0001t0001g0015 a0001c0001t0001g0064 a0001c0001t0001g0071 others(27): Show a0001c0001t0001g0015 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0121 a0001c0001t0002g0188 a0001c0001t0002g0206 a0001c0001t0003g0003 a0001c0001t0003g0024 a0001c0001t0003g0029 a0001c0001t0003g0165 a0001c0001t0003g0173 a0001c0001t0004g0043 a0001c0001t0004g0069 a0001c0001t0004g0122 a0001c0001t0004g0136 a0001c0001t0005g0041 a0001c0001t0005g0089 a0001c0001t0005g0152 a0001c0001t0006g0282 a0001c0001t0007g0103 a0001c0001t0007g0191 a0001c0001t0008g0008 a0001c0001t0008g0207 a0001c0001t0008g0210 a0001c0001t0008g0214 a0001c0001t0010g0016 a0001c0001t0010g0209 a0001c0001t0017g0244 a0001c0001t0024g0194 a0002c0003t0001g0011	30	316	0.0949	-51	c.-10 others(62): Show c.-1081_-1031delGAGAGAGAGAGAGAAGAGAGAGAGAGAGAAGAGA GAGAGAGAGAGAGAGGA	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		430		chr1	TogoVar
BCLAF3_chrX_19907860_19996061	19913483	AAAGGGAT others(44): Show AAAGGGATAAATAAGCCAGTTATTCTCAAACTCAAGTATGTGCCAGAATC CC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0089 a0001c0001t0047g0089	1	207	0.0048	-51	c.37 others(62): Show c.3771_*3821delGGGATTCTGGCACATACTTGAGTTTGAGAATAAC TGGCTTATTTATCCCTT	BCLAF3	ENSG00000173681.17	transcript	ENST00000379682.9	protein_coding	12/12	3771		chrX	TogoVar
BDH1_chr3_197504783_197560968	197510633	TGTGTGTG others(44): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTACATGTGTGTA AG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0068 a0001c0001t0053g0068	1	319	0.0031	-51	c.12 others(62): Show c.1211_*1261delCTTACACACATGTACACACACACACACACACACA CACACACACACACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1211		chr3	TogoVar
BEGAIN_chr14_100532147_100592417	100546339	ACCCCGGC others(44): Show ACCCCGGCCCTCGCCCCGCCCCGGCCCTCGCCCCGCCCCGGCCCTCGCCC CG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG01069.hp1 others(35): Show HG00408.hp1 HG00639.hp1 HG01069.hp1 HG01106.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01884.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG02109.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02615.hp2 HG02630.hp1 HG02818.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0037 others(30): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0137 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0002t0001g0220 a0001c0002t0001g0240 a0001c0003t0001g0003 a0001c0003t0001g0013 a0001c0003t0001g0064 a0001c0003t0001g0067 a0001c0003t0001g0141 a0001c0003t0001g0172 a0001c0003t0001g0272 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0279 a0001c0009t0001g0136	38	326	0.1166	-51	c.233 others(66): Show c.233+111_233+161delCGGGGCGAGGGCCGGGGCGGGGCGAGGGCC GGGGCGGGGCGAGGGCCGGGG	BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	3/6			chr14	TogoVar
BHMT_chr5_79106809_79137288	79137077	TTATATAC others(44): Show TTATATACGAATATATATATGAATATATACGAATATATATACGAATATAT AA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 NA20905.hp1 HG03491.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0044 a0001c0001t0001g0045	2	432	0.0046	-51	c.59 others(62): Show c.5962_*6012delTATATACGAATATATATATGAATATATACGAATA TATATACGAATATATAA	BHMT	ENSG00000145692.15	transcript	ENST00000274353.10	protein_coding		4790		chr5	TogoVar
BLOC1S2_chr10_100268293_100291680	100277556	GGGGGGTC others(44): Show GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGG GA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	378	0.0053	-51	c.398 others(68): Show c.398-2114_398-2064delTCCCACCTCCCTCCCGGACGGAGCGGCT GGCCGGGCGGGGGGCTGACCCCC	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BMPER_chr7_33900539_34161427	34132317	CCCAGTTC others(44): Show CCCAGTTCTGCCCTGCTCTCCCCACCACACCCCAAAGGCCCCAGGATCGA AG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02895.hp2 HG03540.hp2 HG02615.hp2 HG02895.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006	a0001c0002t0001g0087 a0001c0002t0003g0088 a0001c0002t0006g0024 a0001c0002t0001g0087 a0001c0002t0003g0088 a0001c0002t0006g0024	3	232	0.0129	-51	c.174 others(72): Show c.1746-10840_1746-10790delCACCACACCCCAAAGGCCCCAGGA TCGAAGCCAGTTCTGCCCTGCTCTCCC	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BPHL_chr6_3113711_3158578	3156322	GAGGGGCT others(44): Show GAGGGGCTTGAAAATCCGCAGAGCATCGGCCATATTATGGGGATAGACTG AA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	350	0.0029	-51	c.37 others(62): Show c.3748_*3798delAGGGGCTTGAAAATCCGCAGAGCATCGGCCATAT TATGGGGATAGACTGAA	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding		2745		chr6	TogoVar
BPIFC_chr22_32408845_32469446	32424596	TTCTTCTC others(44): Show TTCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTCTTCTTCTCT TC	T T	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	422	0.0024	-51	c.121 others(70): Show c.1218-5243_1218-5193delGAAGAGAAGAAGAAGAAGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGAAGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BTBD2_chr19_1980448_2020714	1987348	GTCCCTGA others(44): Show GTCCCTGAGTCCTCCACCCCCATGCCCGGCGGCCCCCCCGCCGTCTTCAT CA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp1 others(28): Show HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00738.hp1 HG01361.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18952.hp2 NA18953.hp1 NA18960.hp1 NA18964.hp1 NA18971.hp2 NA18986.hp2 NA19000.hp1 NA19007.hp1 NA19010.hp2 NA19012.hp2 NA19056.hp2 NA19058.hp1 NA19064.hp2 NA19070.hp1 NA19090.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0002c0028 others(3): Show a0001c0001 a0002c0002 a0002c0028 a0003c0004 a0003c0006 a0005c0010	a0001c0001t0002 a0002c0002t0002 a0002c0028t0002 others(3): Show a0001c0001t0002 a0002c0002t0002 a0002c0028t0002 a0003c0004t0002 a0003c0006t0002 a0005c0010t0002	a0001c0001t0002g0006 a0001c0001t0002g0217 a0001c0001t0002g0225 others(27): Show a0001c0001t0002g0006 a0001c0001t0002g0217 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0236 a0001c0001t0002g0241 a0001c0001t0002g0265 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0296 a0002c0002t0002g0050 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0077 a0002c0002t0002g0084 a0002c0002t0002g0099 a0002c0028t0002g0068 a0003c0004t0002g0146 a0003c0006t0002g0136 a0003c0006t0002g0164 a0003c0006t0002g0168 a0003c0006t0002g0172 a0003c0006t0002g0174 a0003c0006t0002g0188 a0003c0006t0002g0195 a0003c0006t0002g0209 a0005c0010t0002g0127	31	364	0.0852	-51	c.118 others(67): Show c.1181+101_1182-96delTGATGAAGACGGCGGGGGGGCCGCCGGGC ATGGGGGTGGAGGACTCAGGGA	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	6/8			chr19	TogoVar
BTBD9_chr6_38163451_38644929	38266627	AAAGAAAG others(44): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18522.hp1 HG01884.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0171 a0001c0001t0054 a0001c0001t0171	a0001c0001t0054g0084 a0001c0001t0171g0188 a0001c0001t0054g0084 a0001c0001t0171g0188	2	224	0.0089	-51	c.145 others(72): Show c.1455-10162_1455-10112delCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	8/10			chr6	TogoVar
BTNL9_chr5_181035266_181066521	181060711	AGTTTGAA others(44): Show AGTTTGAAAGGGGAAAGGTTACCTTTACAATGGAGACATCTACCAGATCA TC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0167 a0001c0001t0021g0167	1	390	0.0026	-51	c.85 others(60): Show c.850_*900delGTTTGAAAGGGGAAAGGTTACCTTTACAATGGAGAC ATCTACCAGATCATC	BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	11/11	850		chr5	TogoVar
C11orf21_chr11_2290628_2306918	2291601	ACAGAGGC others(44): Show ACAGAGGCGTGCCACCCGCAGCACCCCCAAAAACAACTCCCCACTTTATT CG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	426	0.0024	-51	c.62 others(62): Show c.6298_*6348delCGAATAAAGTGGGGAGTTGTTTTTGGGGGTGCTG CGGGTGGCACGCCTCTG	C11orf21	ENSG00000110665.12	transcript	ENST00000381153.8	protein_coding		4026		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394178	CGTTTCTT others(44): Show CGTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	422	0.0024	-51	c.57 others(62): Show c.5731_*5781delAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAC	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4353		chr11	TogoVar
C14orf39_chr14_60430956_60491063	60434372	TTATAATG others(44): Show TTATAATGTTATATTATTATAGTTATATTATAATGTTATATTATTATAGT TA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0171 a0003c0004t0002g0171	1	294	0.0034	-51	c.24 others(62): Show c.2422_*2472delTAACTATAATAATATAACATTATAATATAACTAT AATAATATAACATTATA	C14orf39	ENSG00000179008.9	transcript	ENST00000321731.8	protein_coding		1583		chr14	TogoVar
C15orf40_chr15_82989817_83016639	82998243	TGGGGTGG others(44): Show TGGGGTGGCTGGCCGGGCGGGGGACTGACCCCCCCCCACCTCCCTCCCGG AC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02615.hp2 others(7): Show HG01884.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp1 HG03098.hp1 HG03453.hp2 HG03471.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0021 a0001c0001t0031 a0001c0001t0051 others(4): Show a0001c0001t0021 a0001c0001t0031 a0001c0001t0051 a0001c0001t0064 a0001c0001t0127 a0001c0001t0150 a0003c0003t0021	a0001c0001t0021g0023 a0001c0001t0031g0035 a0001c0001t0051g0080 others(4): Show a0001c0001t0021g0023 a0001c0001t0031g0035 a0001c0001t0051g0080 a0001c0001t0064g0081 a0001c0001t0127g0110 a0001c0001t0150g0117 a0003c0003t0021g0194	10	406	0.0246	-51	c.73 others(62): Show c.7303_*7353delGTCCGGGAGGGAGGTGGGGGGGGGTCAGTCCCCC GCCCGGCCAGCCACCCC	C15orf40	ENSG00000169609.14	transcript	ENST00000304177.10	protein_coding	4/4	7303		chr15	TogoVar
C19orf38_chr19_10843415_10874790	10857961	GTGGCTTG others(44): Show GTGGCTTGCCTGTAATCCCAGCACTTTGAAAGGCCGAGGCAAGTGGATCA CT	G G	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0058 a0003c0003t0001g0058	1	384	0.0026	-51	c.434 others(66): Show c.434-352_434-302delGCTTGCCTGTAATCCCAGCACTTTGAAAGG CCGAGGCAAGTGGATCACTTG	C19orf38	ENSG00000214212.9	transcript	ENST00000397820.5	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
C1D_chr2_68036130_68068004	68041987	TAACTTAA others(44): Show TAACTTAAGAAGTTGTTCCAAAACACTTGTATGTACTTGATACAGCCTCA AA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0111 a0001c0001t0030g0111	1	368	0.0027	-51	c.85 others(60): Show c.851_*901delTTTGAGGCTGTATCAAGTACATACAAGTGTTTTGGA ACAACTTCTTAAGTT	C1D	ENSG00000197223.12	transcript	ENST00000410067.8	protein_coding	5/5	851		chr2	TogoVar
C5_chr9_120947335_121055275	121024268	GGGGGAGG others(44): Show GGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGCGGGAGGGGGGAGGGG GA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0001 a0018c0023t0001	a0018c0023t0001g0205 a0018c0023t0001g0205	1	276	0.0036	-51	c.100 others(68): Show c.1001-800_1001-750delTCCCCCTCCCCCCTCCCGCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCC	C5	ENSG00000106804.10	transcript	ENST00000223642.3	protein_coding	9/40			chr9	TogoVar
C7orf50_chr7_992006_1143247	1066816	GCACCCCA others(44): Show GCACCCCAGAGGTGAGGGTTTGGGGCACAGTCTGTTGGCGGAGGCAGGAG TA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp2 HG01074.hp2 others(15): Show HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01515.hp2 HG01884.hp2 HG01978.hp1 HG01981.hp2 HG02280.hp1 HG02602.hp1 HG02615.hp1 HG02735.hp2 HG03098.hp2 HG03710.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0026 a0001c0001t0007 a0001c0001t0010 a0001c0001t0026	a0001c0001t0007g0118 a0001c0001t0007g0124 a0001c0001t0007g0126 others(15): Show a0001c0001t0007g0118 a0001c0001t0007g0124 a0001c0001t0007g0126 a0001c0001t0007g0127 a0001c0001t0007g0129 a0001c0001t0007g0135 a0001c0001t0007g0146 a0001c0001t0010g0119 a0001c0001t0010g0120 a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0010g0123 a0001c0001t0010g0125 a0001c0001t0010g0134 a0001c0001t0010g0136 a0001c0001t0010g0138 a0001c0001t0010g0149 a0001c0001t0026g0175	18	326	0.0552	-51	c.130 others(70): Show c.130-56724_130-56674delTACTCCTGCCTCCGCCAACAGACTGT GCCCCAAACCCTCACCTCTGGGGTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C9orf152_chr9_110194561_110213159	110208799	TCTTCACT others(44): Show TCTTCACTGGGTAGTATATGTTAGTTTTGCTAGGGCTGCCATAACGAAAT CC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	466	0.0022	-51	c.-12 others(62): Show c.-1271_-1221delGGATTTCGTTATGGCAGCCCTAGCAAAACTAACA TATACTACCCAGTGAAG	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		641		chr9	TogoVar
CAB39L_chr13_49303650_49449064	49318514	GGGAAAGG others(44): Show GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG GA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0065 a0001c0004t0004g0065	1	324	0.0031	-51	c.835 others(68): Show c.835-7572_835-7522delTCCCTTTCCCTTTCCCTTTCCCTTTCCC TTTCCCTTTCCCTTTCCCTTTCC	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CABLES2_chr20_62383634_62412285	62398080	TGGTGGTG others(44): Show TGGTGGTGACGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTTATG AC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02080.hp1 HG00673.hp1 HG02080.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0036 a0002c0003t0001g0036	2	400	0.0050	-51	c.363 others(68): Show c.363-1539_363-1489delGTCATAACCACCACCACCACCACCATCA CCACCACCACCACCGTCACCACC	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CACNA1C_chr12_2047987_2702950	2520129	GTGACAGT others(44): Show GTGACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCAGAGGAGGGAAGC CA	G G	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0017 a0001c0002t0001g0018	2	104	0.0192	-51	c.139 others(70): Show c.1390+7214_1390+7264delACCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520403	CCAATGGC others(44): Show CCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTG CA	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0017 a0001c0002t0001g0018	2	104	0.0192	-51	c.139 others(70): Show c.1390+7470_1390+7520delACAATGGCCGTGTGCTTCAGAGGAGG GAAGCCATGACAGTCTTCTCATTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520677	GAGGAGGG others(44): Show GAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTTC AT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	104	0.0096	-51	c.139 others(70): Show c.1390+7775_1390+7825delACCAATGGCCGTGTGCTTCATAGGAG GGAAGCCATGACAGTCTTCTCATTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar

Search by Variant

Search

Search Results