Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FAAH2_chrX_57281706_57494193	57352046	ATGTGTAT others(85): Show ATGTGTATATATATATATATACACATATATATATGTGTATATATATGCAC ATATATATATATGTGTATATATATGCACATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	220	0.0045	-92	c.742 others(111): Show c.742+10658_742+10749delGTGTATATATATATATATACACATAT ATATATGTGTATATATATGCACATATATATATATGTGTATATATATGCAC ATATATATATATGTGT	FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAM174B_chr15_92612448_92660775	92631163	TATAATAA others(85): Show TATAATAATTTATATATTATATTATATATTATATATATTACATATATTAT ATATTATATTATATATAATATATTATATATTATATTATATATA	T T	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19006.hp2 NA19055.hp1 NA18947.hp1 NA19006.hp2 NA19055.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0002 a0001c0001t0056 a0007c0011t0025 a0001c0001t0002 a0001c0001t0056 a0007c0011t0025	a0001c0001t0002g0155 a0001c0001t0056g0207 a0007c0011t0025g0365 a0001c0001t0002g0155 a0001c0001t0056g0207 a0007c0011t0025g0365	3	380	0.0079	-92	c.345 others(107): Show c.345-910_345-819delTATATATAATATAATATATAATATATTATA TATAATATAATATATAATATATGTAATATATATAATATATAATATAATAT ATAAATTATTAT	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM210A_chr18_13658347_13731558	13675747	TGGCTTCT others(85): Show TGGCTTCTTTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCTGGC TTCATTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01891.hp1 HG01934.hp2 others(7): Show HG01169.hp2 HG01891.hp1 HG01934.hp2 HG02559.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG03209.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0026	a0001c0001t0001g0223 a0001c0001t0006g0265 a0001c0001t0006g0268 others(6): Show a0001c0001t0001g0223 a0001c0001t0006g0265 a0001c0001t0006g0268 a0001c0001t0006g0270 a0001c0001t0009g0036 a0001c0001t0009g0037 a0001c0001t0009g0039 a0001c0001t0014g0019 a0001c0001t0026g0296	10	320	0.0313	-92	c.474 others(109): Show c.474-3866_474-3775delTGGGCTCAGGAATGTTAATAATCAGGAA ACTGGAAATAATGAAGCCAGGGCTCAGGAATGTTAATAATCAGGAAACTG GAAATAAAGAAGCC	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM210A_chr18_13658347_13731558	13675800	ATTATTTC others(85): Show ATTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCAGGCTTCTTTA TTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCT	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	227	0.0044	-92	c.474 others(109): Show c.474-3918_474-3827delGAAGCCAGGGCTCAGGAATGTTAATAAT CAGGAAACTGGAAATAAAGAAGCCTGGGCTCAGGAATGTTAATAATCAGG AAACTGGAAATAAT	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FBN2_chr5_128252909_128543245	128539813	TCATATAT others(85): Show TCATATATATGATAGATCATATATGATATATCATATATATGATAGATCAT ATATATCATATATATGATATATGATATATGATATATATGATAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA19240.hp2 NA18906.hp1 NA19240.hp2	a0003 a0024 a0003 a0024	a0003c0039 a0024c0066 a0003c0039 a0024c0066	a0003c0039t0005 a0024c0066t0021 a0003c0039t0005 a0024c0066t0021	a0003c0039t0005g0032 a0024c0066t0021g0100 a0003c0039t0005g0032 a0024c0066t0021g0100	2	233	0.0086	-92	c.-23 others(103): Show c.-2302_-2211delCTATCATATATATCATATATCATATATCATATAT ATGATATATATGATCTATCATATATATGATATATCATATATGATCTATCA TATATATG	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1569		chr5	TogoVar
FHOD3_chr18_36292713_36785220	36353894	TTGCATTT others(85): Show TTGCATTTGGGGCTCTGCTTTTTTCTAGGTTTCAAGGTCTCCTCTGGCTC CTCTGCATCTGGCCATAGGCAAGAAAAGAAAAGTGGACAGTTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01192.hp1 HG01358.hp1 others(8): Show HG00408.hp1 HG01192.hp1 HG01358.hp1 HG01891.hp2 HG02132.hp1 HG02809.hp1 HG03098.hp1 HG03516.hp1 HG03579.hp2 NA18982.hp2 NA19091.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0012 a0013	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0005c0010 a0012c0016 a0013c0042	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0002c0002t0005 a0005c0010t0002 a0012c0016t0001 a0013c0042t0002	a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0028 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0002g0085 a0001c0001t0002g0114 a0001c0004t0001g0075 a0001c0004t0002g0105 a0002c0002t0005g0007 a0005c0010t0002g0107 a0012c0016t0001g0025 a0013c0042t0002g0106	11	166	0.0663	-92	c.166 others(109): Show c.166-1640_166-1549delTTTGGGGCTCTGCTTTTTTCTAGGTTTC AAGGTCTCCTCTGGCTCCTCTGCATCTGGCCATAGGCAAGAAAAGAAAAG TGGACAGTTGTGCA	FHOD3	ENSG00000134775.16	transcript	ENST00000590592.6	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
FLNB_chr3_58003422_58177251	58132977	GTCCACCC others(85): Show GTCCACCCATCCATTCCTCCATCAGTCCATCCACCCATCCGTTCCTCCAT CATTCCATCCATCCACTCATCCATTCCTCCATCAGTCCATCCA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03831.hp2 HG02602.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0134 a0001c0001t0001g0046 a0001c0001t0001g0134	2	178	0.0112	-92	c.451 others(108): Show c.4514+79_4514+170delCCCATCCGTTCCTCCATCATTCCATCCAT CCACTCATCCATTCCTCCATCAGTCCATCCATCCACCCATCCATTCCTCC ATCAGTCCATCCA	FLNB	ENSG00000136068.16	transcript	ENST00000295956.9	protein_coding	26/45		INFO_REALIGN_3_PRIME	chr3	TogoVar
FLT4_chr5_180596506_180654600	180635085	GGTGGATG others(85): Show GGTGGATGGATGGATGGATGGAAGTATGGGTGGAGGGGTGGGTGGATGGA TGCATGGATGGATGGAAGGGTGGGTGGATGGATGGATGGAAGT	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03471.hp2 HG02717.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0307 a0002c0003t0007g0308 a0002c0003t0007g0307 a0002c0003t0007g0308	2	388	0.0052	-92	c.59- others(107): Show c.59-3399_59-3308delACTTCCATCCATCCATCCACCCACCCTTCC ATCCATCCATGCATCCATCCACCCACCCCTCCACCCATACTTCCATCCAT CCATCCATCCAC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FMN1_chr15_32760544_33199714	32949962	TATACACA others(85): Show TATACACACATATATATACACACACATATATATACACATACACATATATA TATACACATATATATATATATACACATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02257.hp2 HG02280.hp1	a0001 a0040 a0001 a0040	a0001c0002 a0040c0077 a0001c0002 a0040c0077	a0001c0002t0007 a0040c0077t0003 a0001c0002t0007 a0040c0077t0003	a0001c0002t0007g0187 a0040c0077t0003g0033 a0001c0002t0007g0187 a0040c0077t0003g0033	2	192	0.0104	-92	c.313 others(113): Show c.3138+14053_3138+14144delGTGTATATATATATATATGTGTAT ATATATATATATGTGTATATATATATGTGTATGTGTATATATATGTGTGT GTATATATATGTGTGTAT	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	9/20			chr15	TogoVar
FNDC10_chr1_1593012_1605135	1595970	GAGACAGA others(85): Show GAGACAGACACAGAGAGAGCAGAACAGGGAGAAACAGAGACAGAGAGCGA GAGAGACAGACACAGAGAGAGGCAGACAGAGACAGAGAGAGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0000 a0001c0001t0006g0000	1	402	0.0025	-92	c.32 others(103): Show c.3273_*3364delGTCTCTCTCTGTCTCTGTCTGCCTCTCTCTGTGT CTGTCTCTCTCGCTCTCTGTCTCTGTTTCTCCCTGTTCTGCTCTCTCTGT GTCTGTCT	FNDC10	ENSG00000228594.4	transcript	ENST00000422725.4	protein_coding		2041		chr1	TogoVar
FRK_chr6_115926149_116065891	115958634	GGAAAGAA others(85): Show GGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG01074.hp1 others(34): Show HG00438.hp2 HG00621.hp2 HG01074.hp1 HG01106.hp2 HG01123.hp1 HG01192.hp2 HG01515.hp2 HG01517.hp1 HG02004.hp1 HG02109.hp1 HG02273.hp2 HG02300.hp2 HG02683.hp1 HG02818.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp1 NA18942.hp2 NA18954.hp1 NA18962.hp1 NA18970.hp1 NA18973.hp2 NA18986.hp1 NA18986.hp2 NA19030.hp1 NA19062.hp2 NA19065.hp2 NA19078.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 others(12): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0001t0058 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0071 a0002c0002t0002 a0002c0002t0005 a0002c0002t0019 a0002c0002t0033 a0002c0002t0053 a0002c0002t0057	a0001c0001t0006g0002 a0001c0001t0006g0215 a0001c0001t0006g0217 others(33): Show a0001c0001t0006g0002 a0001c0001t0006g0215 a0001c0001t0006g0217 a0001c0001t0006g0220 a0001c0001t0006g0232 a0001c0001t0008g0203 a0001c0001t0008g0204 a0001c0001t0013g0222 a0001c0001t0013g0227 a0001c0001t0013g0228 a0001c0001t0013g0229 a0001c0001t0016g0114 a0001c0001t0016g0131 a0001c0001t0016g0181 a0001c0001t0058g0199 a0001c0001t0062g0218 a0001c0001t0063g0223 a0001c0001t0064g0219 a0001c0001t0071g0272 a0002c0002t0002g0032 a0002c0002t0002g0060 a0002c0002t0002g0065 a0002c0002t0002g0093 a0002c0002t0005g0016 a0002c0002t0005g0017 a0002c0002t0005g0018 a0002c0002t0005g0019 a0002c0002t0005g0038 a0002c0002t0005g0039 a0002c0002t0005g0055 a0002c0002t0005g0128 a0002c0002t0019g0054 a0002c0002t0019g0174 a0002c0002t0033g0062 a0002c0002t0053g0061 a0002c0002t0057g0126	37	171	0.2164	-92	c.800 others(109): Show c.800-2116_800-2025delTTTCTTTCTTTCTTTCTTTCTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTCTTTCTTTC	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	4/7			chr6	TogoVar
GABRG3_chr15_26966181_27546984	27308103	TATGTTTA others(85): Show TATGTTTATACATCCAAACATATATAAACATATATGTTTATACATCCAAA CATATATAAACATATATGTTTATATATCCAAACATATATAAAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18906.hp2 NA19240.hp1 HG03098.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0009 a0001c0003t0001 a0001c0003t0009 a0001c0002t0009 a0001c0003t0001 a0001c0003t0009	a0001c0002t0009g0022 a0001c0003t0001g0066 a0001c0003t0009g0059 a0001c0002t0009g0022 a0001c0003t0001g0066 a0001c0003t0009g0059	3	92	0.0326	-92	c.271 others(111): Show c.271-18696_271-18605delCATCCAAACATATATAAACATATATG TTTATACATCCAAACATATATAAACATATATGTTTATATATCCAAACATA TATAAACATGTTTATA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNT17_chr7_71127144_71718599	71680228	CTCCCTTC others(85): Show CTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTTCCTCCCT CCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCTA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0017 a0001c0002t0019g0017	1	76	0.0132	-92	c.150 others(111): Show c.1500+2945_1500+3036delCCTTCCTCCCTCCCTCCCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCTATCCCTT CCTCCCTCCCTCTCTC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71680251	CCTTCCTC others(85): Show CCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCC TCTCTCCCTTCCTCCCTCTATCCCTTCCTCCCTCCCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	55	0.0182	-92	c.150 others(111): Show c.1500+2961_1500+3052delCCTTCCTCCCTCCCTCTCTCCCTTCC TCCCTCCCTCTCTCCCTTCCTCCCTCTATCCCTTCCTCCCTCCCTCTCTC TCTTCCTCCCTCCCTC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GAS6_chr13_113815549_113869076	113828953	GACCTCAG others(85): Show GACCTCAGGGAGACCACCTGATCCTCCCCTGAGCCAAGAGGGTCCCGATC TCAGGGAGACCACCTGATCCTCACCTGGGCCAAGAGGGTCTCA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03579.hp2 HG01496.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0009 a0001c0002 a0003c0009	a0001c0002t0001 a0003c0009t0001 a0001c0002t0001 a0003c0009t0001	a0001c0002t0001g0140 a0003c0009t0001g0124 a0001c0002t0001g0140 a0003c0009t0001g0124	2	142	0.0141	-92	c.114 others(109): Show c.1144-334_1144-243delTGAGACCCTCTTGGCCCAGGTGAGGATC AGGTGGTCTCCCTGAGATCGGGACCCTCTTGGCTCAGGGGAGGATCAGGT GGTCTCCCTGAGGT	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	10/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113829217	CAAGAGGG others(85): Show CAAGAGGGTCTCAATCTCAGGCAGACCACATGATCCTCACCTGGGCCAAG AGGGTCCCAATCTCAGGGAGGCCACCTGATCCTCACCTGGGCG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03579.hp2 HG01496.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0009 a0001c0002 a0003c0009	a0001c0002t0001 a0003c0009t0001 a0001c0002t0001 a0003c0009t0001	a0001c0002t0001g0140 a0003c0009t0001g0124 a0001c0002t0001g0140 a0003c0009t0001g0124	2	142	0.0141	-92	c.114 others(109): Show c.1144-598_1144-507delCGCCCAGGTGAGGATCAGGTGGCCTCCC TGAGATTGGGACCCTCTTGGCCCAGGTGAGGATCATGTGGTCTGCCTGAG ATTGAGACCCTCTT	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	10/14			chr13	TogoVar
GFPT2_chr5_180295698_180358336	180296763	ACACACAC others(85): Show ACACACACACACAAGGAAGTACAACACACACGTAAGAAAGTACACACACG GAAGTACTTACCCCCCCCCCCACACACACACGGAAGTACTTAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	410	0.0024	-92	c.47 others(103): Show c.4709_*4800delGTAAGTACTTCCGTGTGTGTGTGGGGGGGGGGGT AAGTACTTCCGTGTGTGTACTTTCTTACGTGTGTGTTGTACTTCCTTGTG TGTGTGTG	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3934		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180296863	ACACACAC others(85): Show ACACACACACACACACACAAGGAAGTACAACACACACGTAAGGAAGTACA CACACGGAAGTACCCCCCCACACACACACACGGAAGTACTTAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG01255.hp1 others(43): Show HG00280.hp1 HG00438.hp1 HG01255.hp1 HG01258.hp1 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02055.hp1 HG02083.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02683.hp2 HG02698.hp1 HG02965.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp2 HG03942.hp1 HG04115.hp1 NA18940.hp2 NA18941.hp2 NA18951.hp2 NA18957.hp1 NA18967.hp2 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19088.hp2 NA19240.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0005c0010	a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 a0002c0002t0002 a0005c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0016 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0158 a0001c0001t0001g0208 a0001c0001t0001g0220 a0001c0001t0001g0284 a0001c0001t0001g0342 a0001c0001t0005g0363 a0001c0001t0005g0364 a0001c0001t0005g0377 a0001c0001t0005g0380 a0001c0001t0005g0381 a0001c0004t0001g0083 a0001c0004t0001g0121 a0001c0004t0001g0217 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0128 a0002c0002t0002g0157 a0002c0002t0002g0280 a0002c0002t0002g0354 a0005c0010t0001g0132 a0005c0010t0001g0133	46	410	0.1122	-92	c.46 others(103): Show c.4609_*4700delGTAAGTACTTCCGTGTGTGTGTGTGGGGGGGTAC TTCCGTGTGTGTACTTCCTTACGTGTGTGTTGTACTTCCTTGTGTGTGTG TGTGTGTG	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3834		chr5	TogoVar
GGACT_chr13_100525180_100593789	100550325	CACACACA others(85): Show CACACACACACACACACACACACACACACACCACTGGCCCTTCTAAGGAA ACTGGATGCGCTGAATGAATTAAATCCGAGCCGATTATACTCT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	374	0.0027	-92	c.-10 others(111): Show c.-10-17816_-10-17725delAGAGTATAATCGGCTCGGATTTAATT CATTCAGCGCATCCAGTTTCCTTAGAAGGGCCAGTGGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	GGACT	ENSG00000134864.11	transcript	ENST00000683975.1	protein_coding	2/2			chr13	TogoVar
GLI2_chr2_120730868_120997653	120857321	TTGCCCAC others(85): Show TTGCCCACCCACCTACCCATCTGCCCACCCACCTACCTATCTGCCCACTC ACCTACCTACCCATCTGCCCACCCACCCACCCACCTACCCATC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0003 a0002c0024t0003	a0002c0024t0003g0093 a0002c0024t0003g0093	1	160	0.0063	-92	c.148 others(111): Show c.148+59866_148+59957delTACCCATCTGCCCACCCACCTACCTA TCTGCCCACTCACCTACCTACCCATCTGCCCACCCACCCACCCACCTACC CATCTGCCCACCCACC	GLI2	ENSG00000074047.22	transcript	ENST00000361492.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GLI3_chr7_41955949_42242209	42216993	AGCTTTTA others(85): Show AGCTTTTAGAGCAGGGTTGTGGCATAAGCAGAACTGTAATAAGCCTAATT TGGCAGGAGCAAGTCCCATGCGTGACAAGAGTGGAGATGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0030 a0003c0003t0030	a0003c0003t0030g0024 a0003c0003t0030g0024	1	156	0.0064	-92	c.124 others(109): Show c.124+6045_124+6136delCTTTCATCTCCACTCTTGTCACGCATGG GACTTGCTCCTGCCAAATTAGGCTTATTACAGTTCTGCTTATGCCACAAC CCTGCTCTAAAAGC	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14			chr7	TogoVar
GOLM2_chr15_44283719_44420758	44288443	AGAGAGAG others(85): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAGCGAG CGAGAGAGAGCGAGAGAGCGAGAGAGCGAGAGAGCGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	140	0.0071	-92	c.-58 others(101): Show c.-586_-495delGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAAAGAGAGCGAGCGAGAGAGAGCGAGAGAGCGAGAGAGCGAGAGAGCGA GAGAGC	GOLM2	ENSG00000166734.20	transcript	ENST00000299957.11	protein_coding		275		chr15	TogoVar
GP6_chr19_55008705_55043264	55033300	TTCGTGTT others(85): Show TTCGTGTTGTGTTAGACACGGTGGACTCGTTCGTGTTGTGTTAGACACGG TGGGCTCGTTCGTGTTGTGTTAGACACGGTGGACTCGTTCGTG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG03195.hp2 others(1): Show HG02109.hp1 HG02145.hp1 HG03195.hp2 NA19030.hp2	a0002 a0005 a0010 a0002 a0005 a0010	a0002c0002 a0005c0006 a0010c0012 a0002c0002 a0005c0006 a0010c0012	a0002c0002t0001 a0005c0006t0001 a0010c0012t0002 a0002c0002t0001 a0005c0006t0001 a0010c0012t0002	a0002c0002t0001g0386 a0005c0006t0001g0400 a0010c0012t0002g0090 others(1): Show a0002c0002t0001g0386 a0005c0006t0001g0400 a0010c0012t0002g0090 a0010c0012t0002g0123	4	438	0.0091	-92	c.35- others(105): Show c.35-854_35-763delCACGAACGAGTCCACCGTGTCTAACACAACAC GAACGAGCCCACCGTGTCTAACACAACACGAACGAGTCCACCGTGTCTAA CACAACACGA	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55033302	CGTGTTGT others(85): Show CGTGTTGTGTTAGACACGGTGGACTCGTTCGTGTTGTGTTAGACACGGTG GGCTCGTTCGTGTTGTGTTAGACACGGTGGACTCGTTCGTGTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0370 a0001c0001t0001g0370	1	393	0.0025	-92	c.35- others(105): Show c.35-856_35-765delAACACGAACGAGTCCACCGTGTCTAACACAAC ACGAACGAGCCCACCGTGTCTAACACAACACGAACGAGTCCACCGTGTCT AACACAACAC	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GPC6_chr13_93221807_94413020	93231314	CATATATA others(85): Show CATATATATATATATACGTATATATATATATACATATATATATATACGTA TATATATATATATATACATATATATATATATATGTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03486.hp2 NA19240.hp2 HG02886.hp2 HG03486.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0031 a0001c0001t0001 a0001c0001t0013 a0001c0001t0031	a0001c0001t0001g0032 a0001c0001t0013g0030 a0001c0001t0031g0031 a0001c0001t0001g0032 a0001c0001t0013g0030 a0001c0001t0031g0031	3	50	0.0600	-92	c.160 others(109): Show c.160+3714_160+3805delCGTATATATATATATACATATATATATA TACGTATATATATATATATATACATATATATATATATATGTATATATATA TATATATATATATA	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	94392631	GTTGGTCA others(85): Show GTTGGTCAGGCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCTCTTG GTCAGGCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCTC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA20752.hp2 NA18522.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0035 a0001c0001t0017 a0001c0001t0035	a0001c0001t0017g0055 a0001c0001t0035g0071 a0001c0001t0017g0055 a0001c0001t0035g0071	2	24	0.0833	-92	c.129 others(111): Show c.1290-5696_1290-5605delTTGGTCAGGCTGGTCTCGAACTCTCG ACCTCAGGTGATCCACCCTCTTGGTCAGGCTGGTCTCGAACTCTCGACCT CAGGTGATCCACCCTC	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GRIA1_chr5_153485670_153818869	153606868	AGTACTTT others(85): Show AGTACTTTAAGATGTTTTTCATCCTGATTATGAAATAATAAAGTATGTGT AATTTTCTTTTCTTACAATACCCTTGTTCAATTTGGTATTCAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG01167.hp1 others(42): Show HG00609.hp1 HG00639.hp1 HG01167.hp1 HG01175.hp2 HG01256.hp1 HG01346.hp1 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02135.hp2 HG02145.hp1 HG02683.hp1 HG02683.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18948.hp2 NA18965.hp1 NA18983.hp1 NA18985.hp1 NA19030.hp1 NA19065.hp1 NA19065.hp2 NA19091.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 others(42): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0089 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0194 a0001c0001t0002g0039 a0001c0001t0003g0126 a0001c0002t0001g0088 a0001c0010t0001g0184	45	192	0.2344	-92	c.221 others(111): Show c.221-40057_221-39966delACTTTAAGATGTTTTTCATCCTGATT ATGAAATAATAAAGTATGTGTAATTTTCTTTTCTTACAATACCCTTGTTC AATTTGGTATTCAGGT	GRIA1	ENSG00000155511.19	transcript	ENST00000285900.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
GRK5_chr10_119202571_119464745	119427670	GCTGTTAT others(85): Show GCTGTTATCAATATCCCAGTGCCATCAACAGCATCACCACCATCATTAGT ATCACCACCATCGTCAACATCACTGCCATCATCAGTATTACCA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0201 a0001c0001t0029g0201	1	200	0.0050	-92	c.533 others(109): Show c.533+2587_534-2612delTGTTATCAATATCCCAGTGCCATCAACA GCATCACCACCATCATTAGTATCACCACCATCGTCAACATCACTGCCATC ATCAGTATTACCAC	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
GYG2_chrX_2823930_2887818	2845015	ATGTGTAT others(85): Show ATGTGTATGTATATTTATATACACATGTGTATGTATATATACACGTGTGT ATGTATATTTATATACACGTGTGTATGTATATTTATATACACG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02165.hp2 HG01081.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0013 a0001c0001t0002 a0001c0004t0013	a0001c0001t0002g0297 a0001c0004t0013g0291 a0001c0001t0002g0297 a0001c0004t0013g0291	2	262	0.0076	-92	c.149 others(109): Show c.149+1685_149+1776delATGTGTATGTATATATACACGTGTGTAT GTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGT ATATTTATATACAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
H3-4_chr1_228419845_228430360	228427025	CACTCCCT others(85): Show CACTCCCTCCCTTCCTTTCTCCTTCCCTCCCTTCCTTTCTCCTTCCCTCC CTTCCTTTCTCCTTCCCTCCCTTCCTTTCTCCTTCCCTCCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG02896.hp2 others(1): Show HG02486.hp2 HG02615.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0000 a0001c0006t0001g0000	4	412	0.0097	-92	c.-17 others(103): Show c.-1792_-1701delAAGGGAGGGAAGGAGAAAGGAAGGGAGGGAAGGA GAAAGGAAGGGAGGGAAGGAGAAAGGAAGGGAGGGAAGGAGAAAGGAAGG GAGGGAGT	H3-4	ENSG00000168148.4	transcript	ENST00000366696.2	protein_coding		1666		chr1	TogoVar
HACL1_chr3_15555699_15606569	15593094	TACATATA others(85): Show TACATATATGTGTGTGTATATATACACACACATACGTATATATGTATATA TACACACATACACACATACGTATATATGTGTGTATATATACAC	T T	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	426	0.0023	-92	c.228 others(109): Show c.228-1506_228-1415delGTGTATATATACACACATATATACGTAT GTGTGTATGTGTGTATATATACATATATACGTATGTGTGTGTATATATAC ACACACATATATGT	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HCFC2_chr12_104059531_104111524	104076693	TCTGCATT others(85): Show TCTGCATTCCTGCCCCCACCACCAACCCTGACCAGATTTTGTCTTATAAT AGGGCAGTTTTATTCTGCGCTTGTATTTTGTATTTTGTTTCCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02015.hp1 NA18612.hp2 others(11): Show HG00558.hp1 HG02015.hp1 NA18612.hp2 NA18950.hp2 NA18956.hp2 NA18961.hp1 NA18967.hp2 NA18972.hp2 NA18978.hp2 NA18983.hp2 NA18994.hp2 NA19006.hp1 NA19054.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0210 others(7): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0004g0221	14	380	0.0368	-92	c.474 others(109): Show c.474-2721_474-2630delCCAGATTTTGTCTTATAATAGGGCAGTT TTATTCTGCGCTTGTATTTTGTATTTTGTTTCCCCTGCATTCCTGCCCCC ACCACCAACCCTGA	HCFC2	ENSG00000111727.12	transcript	ENST00000229330.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
HCN1_chr5_45249948_45701380	45373626	ATACGGTA others(85): Show ATACGGTATATACGTCATCTATAATATATTACATACGGTATATACGTCAT CTATAATATATTACATACGGTATATACGTCATCTATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00558.hp1 others(30): Show HG00099.hp2 HG00323.hp2 HG00558.hp1 HG01071.hp1 HG01081.hp1 HG01257.hp2 HG01361.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG02056.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02559.hp2 HG03225.hp1 HG03486.hp1 HG03831.hp1 HG04204.hp1 HG06807.hp2 NA18942.hp2 NA18945.hp2 NA18980.hp2 NA18994.hp2 NA19001.hp2 NA19003.hp1 NA19011.hp2 NA19057.hp2 NA19064.hp1 NA19070.hp1 NA19072.hp2 NA19088.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0001t0036 a0001c0001t0037	a0001c0001t0002g0082 a0001c0001t0002g0090 a0001c0001t0002g0098 others(30): Show a0001c0001t0002g0082 a0001c0001t0002g0090 a0001c0001t0002g0098 a0001c0001t0002g0107 a0001c0001t0002g0186 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0162 a0001c0001t0003g0215 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0012g0050 a0001c0001t0012g0135 a0001c0001t0036g0193 a0001c0001t0037g0145	33	224	0.1473	-92	c.123 others(113): Show c.1231-20472_1231-20381delATATATTATAGATGACGTATATAC CGTATGTAATATATTATAGATGACGTATATACCGTATGTAATATATTATA GATGACGTATATACCGTA	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HECTD4_chr12_112155195_112387431	112323953	TCTTTCTT others(85): Show TCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0010 a0001c0011t0010	a0001c0011t0010g0146 a0001c0011t0010g0146	1	266	0.0038	-92	c.178 others(109): Show c.178-4303_178-4212delGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGAAAGAAAGAAAG	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HIP1R_chr12_122830457_122867961	122850545	CCCCTGGT others(85): Show CCCCTGGTTCGGTGGCTGCTGGGTGGGGGGGCCCTGGTTCGGTGGCCGCT GGGTGGGGGGGGCCCTGGTTCGGTGGCCACTGGGTGGGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp2 NA19030.hp2 others(2): Show HG00140.hp2 HG01109.hp2 NA19030.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0109 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0109	5	324	0.0154	-92	c.439 others(107): Show c.439-274_439-183delTGCTGGGTGGGGGGGCCCTGGTTCGGTGGC CGCTGGGTGGGGGGGGCCCTGGTTCGGTGGCCACTGGGTGGGGGGGGCCC TGGTTCGGTGGC	HIP1R	ENSG00000130787.14	transcript	ENST00000253083.9	protein_coding	5/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
HMOX1_chr22_35376096_35399207	35389319	CTTCTTTC others(85): Show CTTCTTTCTTTCTTTCTTTCTTCTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18941.hp1 NA18986.hp2 others(1): Show HG00597.hp1 NA18941.hp1 NA18986.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0023 a0001c0001t0001g0061 a0001c0001t0001g0062	4	348	0.0115	-92	c.637 others(107): Show c.637-544_637-453delTTCTTTCTTTCTTTCTTTCTTCTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT CTTTCTTTCTTT	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4			chr22	TogoVar
HSD17B11_chr4_87331515_87396188	87378827	TATAAATA others(85): Show TATAAATATATATATATAAATATATATATAAATATATATAAATATATATA TATAAATATATATATATAAATATATATAAATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03516.hp2 NA19043.hp1 HG03486.hp1 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274	3	377	0.0080	-92	c.318 others(109): Show c.318+3336_318+3427delTTATATATATATATTTATATATATTTAT ATATATATATTTATATATATATATTTATATATATTTATATATATATTTAT ATATATATATTTAT	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
HTR1E_chr6_86932528_87021679	87009701	AACCTCCC others(85): Show AACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCTGGCCGGGCAGGGGGGCTGACCTCCCCC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	298	0.0034	-92	c.-18 others(111): Show c.-185-5433_-185-5342delAGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCTGGCCGGGCAGGGGGGCTGACCTCCCC CACCTCCCTCCCGGAC	HTR1E	ENSG00000168830.8	transcript	ENST00000305344.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
IL3RA_chrX_1331785_1387689	1340097	AACTCTTT others(85): Show AACTCTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTC	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02280.hp2 HG02080.hp2 HG02280.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0008 a0003c0004t0007 a0001c0001t0008 a0003c0004t0007	a0001c0001t0008g0095 a0003c0004t0007g0093 a0001c0001t0008g0095 a0003c0004t0007g0093	2	113	0.0177	-92	c.-38 others(109): Show c.-38-1627_-38-1536delCTTTCTTTTCTTTTCTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGC CATCTCGGCTCACT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5A_chr10_132532787_132788480	132578471	AGCTCTGT others(85): Show AGCTCTGTCAGGAGAGTGTGCGGGGGCTGGAGGGGCTCTGTCAGGAGAGT GTGCGGGGAGTCTCATCCAGGAGAGTGTGCGGGGACTGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	201	0.0050	-92	c.76- others(109): Show c.76-29391_76-29300delCGGGGAGTCTCATCCAGGAGAGTGTGCG GGGACTGGAGGGGCTCTGTCAGGAGAGTGTGCGGGGGCTGGAGGGGCTCT GTCAGGAGAGTGTG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132651215	TGCCCTGG others(85): Show TGCCCTGGGTCCCCCGGCCTGGATCCATCTCCCCCGTCTCTGGGGAGGCC CTGGGTCCCCCGGCCTGGGTCCATCTCCCCCGTCTCTGGGGAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01952.hp1 HG02015.hp2 others(10): Show HG01109.hp2 HG01952.hp1 HG02015.hp2 HG02109.hp1 HG02895.hp1 HG02897.hp1 HG03098.hp2 HG03540.hp1 HG04199.hp2 NA18945.hp2 NA18971.hp2 NA18973.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0003t0001 a0001c0003t0002 a0001c0005t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(10): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0002g0082 a0001c0001t0010g0047 a0001c0001t0010g0048 a0001c0003t0001g0080 a0001c0003t0002g0002 a0001c0003t0002g0081 a0001c0005t0001g0185 a0001c0005t0001g0186	13	202	0.0644	-92	c.306 others(107): Show c.306+824_306+915delATCCATCTCCCCCGTCTCTGGGGAGGCCCT GGGTCCCCCGGCCTGGGTCCATCTCCCCCGTCTCTGGGGAGGCCCTGGGT CCCCCGGCCTGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
ISOC2_chr19_55447985_55466642	55450614	GACAGAGA others(85): Show GACAGAGACCCAGAGACAGGGGGACAGAGACCCAGAAAGACAGGGGGACA GAGACTCAGAGAGAGAGGGAACAGAGACCCAGAGAGAGAGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	378	0.0026	-92	c.26 others(103): Show c.2602_*2693delACCCTCTCTCTCTGGGTCTCTGTTCCCTCTCTCT CTGAGTCTCTGTCCCCCTGTCTTTCTGGGTCTCTGTCCCCCTGTCTCTGG GTCTCTGT	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		2370		chr19	TogoVar
ITSN2_chr2_24197864_24365536	24251381	ATGTGTAT others(85): Show ATGTGTATATATATGTGTATATATATATGTGTGTATATATATGTGTATAT ATATGTGTGTATATATATGTGTATATATGTGTATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02155.hp2 NA19011.hp2 others(2): Show HG00544.hp1 HG02155.hp2 NA19011.hp2 NA19060.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0092 a0001c0001t0001g0103 others(2): Show a0001c0001t0001g0049 a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0131	5	99	0.0505	-92	c.312 others(109): Show c.3120+872_3120+963delCACATATATATACACATATATACACATA TATATACACACATATATATACACATATATATACACACATATATATATACA CATATATATACACA	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24251449	GTGTATAT others(85): Show GTGTATATATGTGTATATATATGTGTATATATATGTGTATATATATGTGT ATATATATGTGTATATATATGTGTATATATATGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG01081.hp1 others(12): Show HG00323.hp1 HG00639.hp1 HG01081.hp1 HG01934.hp1 HG02055.hp1 HG02071.hp2 HG02572.hp1 HG02698.hp1 HG03490.hp1 HG06807.hp1 NA18964.hp1 NA19007.hp2 NA19030.hp1 NA19064.hp1 NA21309.hp2	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0001 a0003c0003 a0014c0023 a0001c0001 a0003c0003 a0014c0023	a0001c0001t0001 a0003c0003t0001 a0014c0023t0001 a0001c0001t0001 a0003c0003t0001 a0014c0023t0001	a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0065 others(12): Show a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0106 a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0155 a0003c0003t0001g0146 a0003c0003t0001g0147 a0003c0003t0001g0200 a0014c0023t0001g0110	15	222	0.0676	-92	c.312 others(109): Show c.3120+804_3120+895delTATATATACACATATATATACACATATA TATACACATATATATACACATATATATACACATATATATACACATATATA TACACATATATACA	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
JUN_chr1_58775791_58789047	58783539	TCGCGCTC others(85): Show TCGCGCTCGCCCAAGTTCAACAACCGGTGCGAGCGAAGCTGAGCGCACGT CCTTCTTCTCTTGCGTGGCTCTCCGCCGCCTTCTGGTCTTTAC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0000 a0001c0001t0016g0000	1	438	0.0023	-92	c.-56 others(101): Show c.-561_-470delGTAAAGACCAGAAGGCGGCGGAGAGCCACGCAAGAG AAGAAGGACGTGCGCTCAGCTTCGCTCGCACCGGTTGTTGAACTTGGGCG AGCGCG	JUN	ENSG00000177606.9	transcript	ENST00000371222.4	protein_coding	1/1	470		chr1	TogoVar
KCNIP4_chr4_20723606_21953772	21495155	CACTATTC others(85): Show CACTATTCGTTCTTTGTTGGCTGGCTGGATGTTAGGATGTTGGGTTTGGT CAGTAAAGGGTGCTAGAGAGGAACTGCAGGAGGAAAGGGTTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03041.hp1 HG02965.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0024 a0001c0001t0003g0018 a0001c0001t0001g0024 a0001c0001t0003g0018	2	80	0.0250	-92	c.61+ others(111): Show c.61+453324_61+453415delAAAACCCTTTCCTCCTGCAGTTCCTC TCTAGCACCCTTTACTGACCAAACCCAACATCCTAACATCCAGCCAGCCA ACAAAGAACGAATAGT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21519494	GTGTATGT others(85): Show GTGTATGTGTATGTGTATATACACATATGTGTGTATGTGTATGTGTATAT ACACATATGTGTGTATGTGTATATATACACATATGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp2 HG02647.hp1 others(1): Show HG02451.hp1 HG02615.hp2 HG02647.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0005	a0001c0001t0002g0036 a0001c0001t0004g0026 a0001c0001t0005g0027 others(1): Show a0001c0001t0002g0036 a0001c0001t0004g0026 a0001c0001t0005g0027 a0001c0002t0005g0062	4	80	0.0500	-92	c.61+ others(111): Show c.61+428985_61+429076delTACACACACATATGTGTATATATACA CATACACACATATGTGTATATACACATACACATACACACATATGTGTATA TACACATACACATACA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21528720	AAAGAAAG others(85): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	78	0.0128	-92	c.61+ others(111): Show c.61+419759_61+419850delCCTTCCTTCCTTTCTTCCTTTCTTCC TTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21528724	AAAGAAAG others(85): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	77	0.0130	-92	c.61+ others(111): Show c.61+419755_61+419846delCCTTCCTTCCTTCCTTTCTTCCTTTC TTCCTTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21528732	AAAGAAAG others(85): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGA AGAAAGGAAGAAAGGAAGAAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0010 a0001c0002t0008g0010	1	75	0.0133	-92	c.61+ others(111): Show c.61+419747_61+419838delCCTTCCTTCCTTCCTTCCTTCCTTTC TTCCTTTCTTCCTTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar

Search by Variant

Search

Search Results