Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
HPCAL1_chr2_10297904_10432604	10399208	G G	GCACCACC others(188): Show GCACCACCACCACCACCACCACCGCCGCTGCCGCTACCACCATCACCACC ACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATCA CCACCACCACCACCACCACCACCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0213 a0001c0001t0004g0213	1	279	0.0036	195	c.-25 others(212): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATCAC CACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACC		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399229	C C	CCGCCGCT others(188): Show CCGCCGCTGCCGCTACCACCATCACCACCACCACCACCACCACCACCATC ACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCATCACCATCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCATCACCATCACCATCATCACCATCAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0152 a0001c0004t0004g0152	1	301	0.0033	195	c.-25 others(212): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCACCACCATCACCACCACCATCACCACCATCACCACCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCATCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCATCA CCATCATCACCATCATC		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
HS3ST2_chr16_22809162_22921338	22819138	T T	TCCTTCCT others(188): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTC CTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCT TCCTTCCTCATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCC CTCCTTCCTTCCTTCCCTCCTTCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	347	0.0029	195	c.485 others(212): Show c.485+4061_485+4062insTTCCTTCCTTCCTTCATTCCTTCCTTCC TTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTT CCTTCCTTCCTCATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCT TCCCTCCTTCCTTCCTTCCCTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTCCTTCC		HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HSD17B14_chr19_48808018_48841491	48824223	C C	CCAGCCTG others(188): Show CCAGCCTGGGCAACAGAGCGAGATTCCATCAAATAAATAAATAAATAAAT AAATAAATAAATAAATGTTAAACATTGAACCACAAGTAAAAGTCAAGAAA AAAAGAAAGAAGGCCAGGTATGGTGGCTCACGCCTGTCATCCTAACACTT TAGGAGGCCAAGGCAGGAAGACAGTTTGAACTCAGGAGTTCAAGAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp1 HG03486.hp2 HG02572.hp2 HG02809.hp1 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0038 a0004c0005t0001g0042 a0004c0005t0001g0043 a0001c0001t0001g0038 a0004c0005t0001g0042 a0004c0005t0001g0043	3	114	0.0263	195	c.369 others(212): Show c.369+7444_369+7445insTTCTTGAACTCCTGAGTTCAAACTGTCT TCCTGCCTTGGCCTCCTAAAGTGTTAGGATGACAGGCGTGAGCCACCATA CCTGGCCTTCTTTCTTTTTTTCTTGACTTTTACTTGTGGTTCAATGTTTA ACATTTATTTATTTATTTATTTATTTATTTATTTATTTGATGGAATCTCG CTCTGTTGCCCAGGCTG		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8						chr19	TogoVar
HSF1_chr8_144286604_144319720	144313660	G G	GCGCCTCC others(188): Show GCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCACCGCCTCC CCGCACCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCCCCG CCTCCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCAC CGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0272 a0001c0003t0001g0272	1	270	0.0037	195	c.124 others(210): Show c.1248+45_1248+46insGCCTCCCCGCCTCCCCGCACCGCCTCCCCG CCTCCCCGCACCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCACCGCCT CCCCGCCTCCCCGCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGCCCCGC CTCCCCGCCTCCCCGCACCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTC CCCGCGCCGCCTCCC		HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
IFITM3_chr11_314676_325860	321899	C C	CTGTGGTG others(188): Show CTGTGGTGCCCAGGCAGCCGGATTATCCCATTACCTTCAGTGTGGTGCCC AGGCAGCCGGATTATCCCATTACCTTCAGTGTGGTGCCCAGGCAGCTGGA TTATCCCATTACCTTCACTATGGTGCCCAGGCAGCTGGATTATCCCATAA CCCTCACTGTGGTGCCCAGGCAGCCGGATTATCCCATTACCTTCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	29	0.0345	195	c.-12 others(206): Show c.-1281_-1087dupCTGAAGGTAATGGGATAATCCGGCTGCCTGGGCA CCACAGTGAGGGTTATGGGATAATCCAGCTGCCTGGGCACCATAGTGAAG GTAATGGGATAATCCAGCTGCCTGGGCACCACACTGAAGGTAATGGGATA ATCCGGCTGCCTGGGCACCACACTGAAGGTAATGGGATAATCCGGCTGCC TGGGCACCACA		IFITM3	ENSG00000142089.17	transcript	ENST00000399808.5	protein_coding					1040		chr11	TogoVar
IFNAR1_chr21_33319970_33364864	33322332	A A	AATATATA others(188): Show AATATATATATGCAATATATATATATGGAATATATATATGCAGTATATAT ATATGAATATATATATGGAATATATATGGAATATATATATGGAATATATA TATGGAATATATATATGGAATATATATATGGAATATATATGTGGAATATA TATATATGTGGAATATATATATATGTGGAATATATATATGGAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	306	0.0033	195	c.-27 others(206): Show c.-2724_-2723insATATATATATGCAATATATATATATGGAATATAT ATATGCAGTATATATATATGAATATATATATGGAATATATATGGAATATA TATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATA TATATGTGGAATATATATATATGTGGAATATATATATATGTGGAATATAT ATATGGAATAT		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2637		chr21	TogoVar
IGF1_chr12_102390874_102485563	102441940	C C	CTTCTTCT others(188): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0303 a0001c0001t0031g0303	1	354	0.0028	195	c.221 others(214): Show c.221-22251_221-22250insAGAAGAAGAAGAAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAA		IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3						chr12	TogoVar
IGF2R_chr6_159964082_160116504	159980215	G G	GAAAGAAA others(188): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0252 a0002c0015t0001g0252	1	301	0.0033	195	c.149 others(214): Show c.149+10844_149+10845insAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAGAAAGAAAAGA AAGAAAGAAAGAAAGAAAG		IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	1/47					INFO_REALIGN_3_PRIME	chr6	TogoVar
IL11_chr19_55359382_55375463	55375268	C C	CAGCCCCT others(188): Show CAGCCCCTCCTCCCTCAGACCCAGGAGTCTGGGACCCCCCCAGCCCCTCC TCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCA GGAGTCCCGGACCCGGACCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT CCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02895.hp2 NA19030.hp1 HG02145.hp1 HG02895.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0067 a0001c0001t0004g0010 a0001c0001t0005g0032 a0001c0001t0002g0067 a0001c0001t0004g0010 a0001c0001t0005g0032	3	298	0.0101	195	c.-49 others(206): Show c.-4959_-4958insAGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGTCCGG GTCCGGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGGGGGTCCCAGACTCCTGGGTCTGAGG GAGGAGGGGCT		IL11	ENSG00000095752.7	transcript	ENST00000264563.7	protein_coding					4806		chr19	TogoVar
IL11_chr19_55359382_55375463	55375268	C C	CCAGCCCC others(188): Show CCAGCCCCTCCTCCCTCAGACCCAGGAGTCTGGGACCCCCCAGCCCCTCC TCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCA GGAGTCCCGGACCCGGACCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT CCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG03139.hp2 HG02809.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0010 a0001c0001t0004g0004 a0001c0001t0004g0010	2	297	0.0067	195	c.-49 others(206): Show c.-4959_-4958insAGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGTCCGG GTCCGGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGGGGTCCCAGACTCCTGGGTCTGAGGG AGGAGGGGCTG		IL11	ENSG00000095752.7	transcript	ENST00000264563.7	protein_coding					4806		chr19	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540818	A A	ACATATAT others(188): Show ACATATATTATATATCATATATAATATATACATATATTATATATGATATA TAATATATGTATATATTATATATGATATATAATATATACATATATTATAT ATGATATATAATATATAATATATGTATATATTATATATGATATATAATAT ATACATATATTATATATCATATATAATATATACATATATTATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	131	0.0076	195	c.772 others(214): Show c.772+56445_772+56446insCATATATAATATATACATATATTATA TATGATATATAATATATGTATATATTATATATGATATATAATATATACAT ATATTATATATGATATATAATATATAATATATGTATATATTATATATGAT ATATAATATATACATATATTATATATCATATATAATATATACATATATTA TATATCATATATTATATAT		IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RL1_chr2_102306563_102357037	102352939	A A	ATATTATA others(188): Show ATATTATATATTTTATATATAATATTATATATAATATTATATATTTTATA TATAATATTATATATAATATTATATATTTTATATAATATTATATATAATA TTATATATTTTATATATAATATTATATATAATATTATATATTTTATATAT AATATATATTATATAATATTATATATATTATACATTACATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	346	0.0029	195	c.10 others(206): Show c.1018_*1019insTATTATATATTTTATATATAATATTATATATAAT ATTATATATTTTATATATAATATTATATATAATATTATATATTTTATATA ATATTATATATAATATTATATATTTTATATATAATATTATATATAATATT ATATATTTTATATATAATATATATTATATAATATTATATATATTATACAT TACATATATAT		IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding					903		chr2	TogoVar
INO80_chr15_40973880_41121280	41031563	A A	AGGGAGGA others(188): Show AGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAG GGAGAAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGA AGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAG GGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02698.hp2 HG01070.hp2 HG01071.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190	3	248	0.0121	195	c.290 others(214): Show c.2908-3828_2908-3827insCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTCCCTTCCTCCCTTTCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCT CCCTTCCTCCCTTCCTCCC		INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35						chr15	TogoVar
INSR_chr19_7107265_7299414	7153485	G G	GCACCACA others(188): Show GCACCACACACACACACCACATACACACTTCACACACACCACACACCACA CAAATCACACACACCACCACACCCACGCCACACACCACACACACACCACA CACACACCACACACACACACCACATACACACTTCACACACACCACACACC ACACAAATCACACACACCACCACACCCACGCCACACACCACACACA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0076 a0001c0012t0076	a0001c0012t0076g0087 a0001c0012t0076g0087	1	291	0.0034	195	c.203 others(212): Show c.2030-559_2030-558insTGTGTGTGGTGTGTGGCGTGGGTGTGGT GGTGTGTGTGATTTGTGTGGTGTGTGGTGTGTGTGAAGTGTGTATGTGGT GTGTGTGTGTGGTGTGTGTGTGGTGTGTGTGTGGTGTGTGGCGTGGGTGT GGTGGTGTGTGTGATTTGTGTGGTGTGTGGTGTGTGTGAAGTGTGTATGT GGTGTGTGTGTGTGGTG		INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21						chr19	TogoVar
IQCA1_chr2_236319151_236512476	236344808	G G	GGGTGTGC others(188): Show GGGTGTGCAGAGCCCTGGCTGTGAACGTGCTTCCCTCTGGGGTGTGCAGA GCCCTGGTTGTAAACGTGCTTCCCTCTGGGGTGTGCAGAGCCCTGGTTGT AAATGTGCTTCCCTCTGGGGTGTGCAGAGCCCTGGTTGTAAATGCGCTTC CCTCTGGGGTGTGCAGAGCCCTGGTTGTAAATGTGCTTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0001 a0002c0008t0001g0001	2	206	0.0097	195	c.187 others(212): Show c.1870-166_1870-165insTGAGAGAGAAGCACATTTACAACCAGGG CTCTGCACACCCCAGAGGGAAGCGCATTTACAACCAGGGCTCTGCACACC CCAGAGGGAAGCACATTTACAACCAGGGCTCTGCACACCCCAGAGGGAAG CACGTTTACAACCAGGGCTCTGCACACCCCAGAGGGAAGCACGTTCACAG CCAGGGCTCTGCACACC		IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18						chr2	TogoVar
IQCA1_chr2_236319151_236512476	236345145	T T	TGTGCTTC others(188): Show TGTGCTTCCCTCTGGGGTGTGCAGAGCCCTGGTTGTAAATGCACTTCCCT CTGGGGTGTGCAGAGCCCTGGTTGTAAATGCACTACCCTCTCGGGTGTGC AGAACCCTGGTTGTAACTGTGCTTCCCTTAGGGGTGTGCAGAGCCCTGGT TGTAAATGCACTTCCCTCTGGGGTGTGCAGAACCCTGGTTGTAAAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0109 a0001c0005t0002g0109	1	180	0.0056	195	c.187 others(212): Show c.1870-503_1870-502insGTTTACAACCAGGGTTCTGCACACCCCA GAGGGAAGTGCATTTACAACCAGGGCTCTGCACACCCCTAAGGGAAGCAC AGTTACAACCAGGGTTCTGCACACCCGAGAGGGTAGTGCATTTACAACCA GGGCTCTGCACACCCCAGAGGGAAGTGCATTTACAACCAGGGCTCTGCAC ACCCCAGAGGGAAGCAC		IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18						chr2	TogoVar
IQCA1_chr2_236319151_236512476	236345147	C C	CGCTTCCC others(188): Show CGCTTCCCTCTGGGGTGTGCAGAGCCCTGGTTGTAAATGCACTTCCCTCT GGGGTGTGCAGAGCCCTGGTTGTAAATGCACTACCCTCTCGGGTGTGCAG AACCCTGGTTGTAACTGTGCTTCCCTTAGGGGTGTGCAGAGCCCTGGTTG TAAATGCACTTCCCTCTGGGGTGTGCAGAACCCTGGTTGTAAACGT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0001 a0002c0008t0001g0001	2	125	0.0160	195	c.187 others(212): Show c.1870-505_1870-504insACGTTTACAACCAGGGTTCTGCACACCC CAGAGGGAAGTGCATTTACAACCAGGGCTCTGCACACCCCTAAGGGAAGC ACAGTTACAACCAGGGTTCTGCACACCCGAGAGGGTAGTGCATTTACAAC CAGGGCTCTGCACACCCCAGAGGGAAGTGCATTTACAACCAGGGCTCTGC ACACCCCAGAGGGAAGC		IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18						chr2	TogoVar
IQSEC1_chr3_12892043_13078429	12892986	C C	CCACAACC others(188): Show CCACAACCTCCACAGAGACTCTCCACCCTCTCCCACTGTGCACCCCCCCA ACCCCTGCACCCCACGCACAACCTCCACAGAGACTCTCCACCCTCTCCCA CTGTGCACCCCCCCAACCCCTGCACCCCACGCACAACCTCCACAGGGACT CCCCACCCTCTCCCACTGTGCACCCCCCCAACCCCTGCACCCCACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0196 a0001c0001t0025g0196	1	184	0.0054	195	c.79 others(206): Show c.7996_*7997insCGTGGGGTGCAGGGGTTGGGGGGGTGCACAGTGG GAGAGGGTGGGGAGTCCCTGTGGAGGTTGTGCGTGGGGTGCAGGGGTTGG GGGGGTGCACAGTGGGAGAGGGTGGAGAGTCTCTGTGGAGGTTGTGCGTG GGGTGCAGGGGTTGGGGGGGTGCACAGTGGGAGAGGGTGGAGAGTCTCTG TGGAGGTTGTG		IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding					4056		chr3	TogoVar
ITPR2_chr12_26330352_26838194	26784356	C C	CCTCCTCT others(188): Show CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCGCTCTCGCTCTCGCTCTCGCTCTCGCTCTCGCTCTCG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0007 a0001c0013t0002g0007	1	120	0.0083	195	c.163 others(212): Show c.163+5800_163+5801insCGAGAGCGAGAGCGAGAGCGAGAGCGAG AGCGAGAGCGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAG		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56						chr12	TogoVar
JAKMIP2_chr5_147580438_147787728	147764931	A A	AAAGAAAG others(188): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0015 a0001c0018t0015	a0001c0018t0015g0193 a0001c0018t0015g0193	1	246	0.0041	195	c.-14 others(216): Show c.-149+17524_-149+17525insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT		JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21						chr5	TogoVar
KCNG2_chr18_79792938_79905100	79865150	C C	CCTGGGTG others(188): Show CCTGGGTGCTGAGAGGTCTGGCTGCTGAGAGGTCTGGGTGCTGAGATATC TGGCTGCTGAGAGGTCTGTGCTGAGAGGTCTGTGTGCTGAGAGTGTGGGT GCTGAGGTCTGGGTGCTGAGGTCTGTGTGCTGAGAGGTCTGTGTGCTGAG GTCTGGGTGCTGAGGTCTGGGTGCTGAGAGGTCTGGGTGCTGAGGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG01081.hp2 HG00140.hp1 HG00738.hp1 HG01081.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0004 a0002c0004t0001g0060 a0002c0004t0001g0151 a0002c0004t0001g0004 a0002c0004t0001g0060 a0002c0004t0001g0151	3	310	0.0097	195	c.624 others(211): Show c.624+879_624+1073dupGCTGCTGAGAGGTCTGGGTGCTGAGATAT CTGGCTGCTGAGAGGTCTGTGCTGAGAGGTCTGTGTGCTGAGAGTGTGGG TGCTGAGGTCTGGGTGCTGAGGTCTGTGTGCTGAGAGGTCTGTGTGCTGA GGTCTGGGTGCTGAGGTCTGGGTGCTGAGAGGTCTGGGTGCTGAGGTCTG GGTGCTGAGAGGTCTG		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TCACCACC others(188): Show TCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACC ATCACCACCACCACCACCACCACCATCACCATCACCACCACCATCACCAT TATCACCACCACCATCACCACCATCACCACCACCACCATCACCATCACCA CCACCATCACCATTATCACCACCACCATCACCATCACCATCACCAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0053 a0001c0004t0004g0053	1	196	0.0051	195	c.691 others(210): Show c.691-243_691-242insGTGGTGATGGTGATGGTGATGGTGGTGGTG ATAATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGT GATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGGTGG TGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGGTA ATGGTGATGGTGGTG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16						chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TCACCACC others(188): Show TCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACC ATCACCACCACCACCACCACCATCACCATCACCACCACCATCACCATTAT CACCACCACCATCACCACCATCACCACCACCACCATCACCATCACCACCA CCATCACCATTATCACCACCACCATCACCACCATCACCATCACCAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03540.hp1 HG03098.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0020 a0001c0002 a0001c0020	a0001c0002t0075 a0001c0020t0011 a0001c0002t0075 a0001c0020t0011	a0001c0002t0075g0252 a0001c0020t0011g0058 a0001c0002t0075g0252 a0001c0020t0011g0058	2	197	0.0102	195	c.691 others(210): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGGTG GTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGT GGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGG TGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGGTA ATGGTGATGGTGGTG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16						chr20	TogoVar
KHSRP_chr19_6408102_6429811	6429025	A A	ATATATAT others(188): Show ATATATATATTATATATATGTTATATATATATATAATATATATATTATAT ATATGTTATATATATATATAATATATATATTATATATATGTTATATATAT ATATAATATATATATTATATATATGTTATATATATATATAATATATATAT TATATATATGTTATATATATATATAATATATATATTATATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02129.hp2 HG02132.hp2 others(3): Show HG00408.hp2 HG02129.hp2 HG02132.hp2 HG03927.hp1 NA18999.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0004g0004 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0004g0004 a0001c0001t0004g0052 a0001c0001t0004g0089	6	326	0.0184	195	c.-43 others(206): Show c.-4325_-4324insACATATATATAATATATATATTATATATATATAT AACATATATATAATATATATATTATATATATATATAACATATATATAATA TATATATTATATATATATATAACATATATATAATATATATATTATATATA TATATAACATATATATAATATATATATTATATATATATATAACATATATA TAATATATATA		KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding					4215		chr19	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(188): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT CCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0021 a0001c0001t0070g0021	1	224	0.0045	195	c.-25 others(214): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTT CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCT		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(188): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01346.hp1 HG01515.hp2 others(2): Show HG00280.hp1 HG01346.hp1 HG01515.hp2 HG01517.hp2 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0072 a0001c0001t0002g0061 a0001c0001t0005g0093 others(2): Show a0001c0001t0001g0072 a0001c0001t0002g0061 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0010g0095	5	228	0.0219	195	c.-25 others(214): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCT		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(188): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0113 a0001c0001t0045g0113	1	224	0.0045	195	c.-25 others(214): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCT		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTTCTC others(188): Show TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02622.hp1 HG03195.hp1 others(1): Show HG02486.hp2 HG02622.hp1 HG03195.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0027 a0001c0001t0002 a0001c0002t0027	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0002t0027g0026 others(1): Show a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0002t0027g0026 a0001c0002t0027g0027	4	225	0.0178	195	c.-25 others(214): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCTCTTCTTCTTC CTCTTCTTCTTCCTCTTCT		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(188): Show TCCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	173	0.0058	195	c.-25 others(214): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTCCTTCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTC TTCTTCCTCTTCTTCTTCC		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3						chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(188): Show TCCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 NA19003.hp1 HG00280.hp2 HG00741.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0137 a0001c0001t0010g0160 a0001c0001t0010g0161 a0001c0001t0001g0137 a0001c0001t0010g0160 a0001c0001t0010g0161	3	175	0.0171	195	c.-25 others(214): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTCCTTCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTC TTCTTCCTCTTCTTCTTCC		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3						chr9	TogoVar
KIF25_chr6_167992671_168050091	167997135	T T	TGGGGGCG others(188): Show TGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATA GGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGGGCGGGGGAATCTGCAGAGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0298 a0001c0001t0002g0298	1	370	0.0027	195	c.-23 others(206): Show c.-2334_-2333insGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGG GAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGGCGGGGGAAT CTGCAGAGATG		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					535		chr6	TogoVar
KLHDC4_chr16_87702812_87770986	87739065	C C	CCTCATCC others(188): Show CCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCTC ATCCACACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCATCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	152	0.0066	195	c.507 others(212): Show c.507-8422_507-8421insATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAG		KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11						chr16	TogoVar
KREMEN1_chr22_29068035_29151820	29120196	G G	GGAGGAGG others(188): Show GGAGGAGGGAGAGGTGATGATGGAAATGGAGGAAGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGAGGGAGAGGTGAT GAAGGAAACAGGGAGGAGGGAGAGGGTGATGAAGGAAATGGAGGAGGGAG AGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0323 a0001c0001t0041g0323	1	365	0.0027	195	c.353 others(212): Show c.353-1160_353-1159insAGGAGGGAGAGGTGATGATGGAAATGGA GGAAGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGA AATGGAGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGGTGAT GAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGA GGTGATGATGGAAACAG		KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr22	TogoVar
KREMEN1_chr22_29068035_29151820	29120418	A A	AATGGAGG others(188): Show AATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGAT GAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGA GGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGA GGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGG	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	300	0.0033	195	c.353 others(210): Show c.353-938_353-937insTGGAGGAGGGAGAGGTGATGATGGAAACAG GGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGA TGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGG AGAGGTGATGAAGGA		KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr22	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(188): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	77	0.0130	195	c.-27 others(206): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGG		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding					2705		chr12	TogoVar
KRTAP2-2_chr17_41049498_41060230	41054887	C C	CGCAGGGG others(188): Show CGCAGGGGGACTGCACAGACACAGGCTGGCAGCAGGTGGTGGCTCAGCAG GAGGAGGTCCTGCAGGTGGTGCTGCAAGGGGTCGGCTGGCCGCAGGGGGA CTGCACAGACACAGGCTGGCAGCAGGTGGTGGCTCAGCAGGAGGAGGTCC TGCAGGTGGTGCTGCAAGGGGTCGGCTGGCCGCAGGGGGGCCGGCA	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0000 a0001c0012t0001g0000	1	66	0.0152	195	c.324 others(202): Show c.324_325insTGCCGGCCCCCCTGCGGCCAGCCGACCCCTTGCAGCAC CACCTGCAGGACCTCCTCCTGCTGAGCCACCACCTGCTGCCAGCCTGTGT CTGTGCAGTCCCCCTGCGGCCAGCCGACCCCTTGCAGCACCACCTGCAGG ACCTCCTCCTGCTGAGCCACCACCTGCTGCCAGCCTGTGTCTGTGCAGTC CCCCTGC	p.Cys others(208): Show p.Cys108_Gly109insCysArgProProCysGlyGlnProThrProCy sSerThrThrCysArgThrSerSerCysTerAlaThrThrCysCysGlnP roValSerValGlnSerProCysGlyGlnProThrProCysSerThrThr CysArgThrSerSerCysTerAlaThrThrCysCysGlnProValSerVa lGlnSerProCys	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding	1/1	343/733	324/372	108/123			chr17	TogoVar
KRTAP2-3_chr17_41054240_41065114	41054887	C C	CGCAGGGG others(188): Show CGCAGGGGGACTGCACAGACACAGGCTGGCAGCAGGTGGTGGCTCAGCAG GAGGAGGTCCTGCAGGTGGTGCTGCAAGGGGTCGGCTGGCCGCAGGGGGA CTGCACAGACACAGGCTGGCAGCAGGTGGTGGCTCAGCAGGAGGAGGTCC TGCAGGTGGTGCTGCAAGGGGTCGGCTGGCCGCAGGGGGGCCGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	83	0.0120	195	c.47 others(206): Show c.4776_*4777insTGCCGGCCCCCCTGCGGCCAGCCGACCCCTTGCA GCACCACCTGCAGGACCTCCTCCTGCTGAGCCACCACCTGCTGCCAGCCT GTGTCTGTGCAGTCCCCCTGCGGCCAGCCGACCCCTTGCAGCACCACCTG CAGGACCTCCTCCTGCTGAGCCACCACCTGCTGCCAGCCTGTGTCTGTGC AGTCCCCCTGC		KRTAP2-3	ENSG00000212724.3	transcript	ENST00000391418.3	protein_coding					4352		chr17	TogoVar
LHPP_chr10_124456823_124619141	124507402	G G	GAGGGGGG others(188): Show GAGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTC GGCGGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTG GGGGGATAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGG GGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0176 a0002c0002t0001g0176	1	221	0.0045	195	c.624 others(212): Show c.624+9274_624+9275insAGGGGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTCGGCGGGGTAGACAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGTGGGG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGG TAGGGAGTATTTCAGGT		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6						chr10	TogoVar
LHPP_chr10_124456823_124619141	124507796	G G	GTGGAGGG others(188): Show GTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTC GGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCG GTGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGCAGGATTTCAGGTCGG GGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	184	0.0054	195	c.625 others(212): Show c.625-9384_625-9383insTGGAGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTCGGTGGGGTAGACAGGATTTCAGGTGGGGGG GTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGT		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6						chr10	TogoVar
LOC102723971_chr9_135609183_135624893	135620055	A A	ACTCCCCC others(188): Show ACTCCCCCGTCTCCCCCGTCTCCCCCTTTTCCCCCTACTCCCCCTTCTCC CCCATCTCCCCCTTCTCCCCCGTCTCCCCCATCTCCCCCTACTCCTTCTC CCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTACTCCCCCG TCTCCCCCTTCTCCCCCTTTTCCCCCTACTCCCCCTTCTCCCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	2	428	0.0047	195	c.11 others(206): Show c.1103_*1104insCTCCCCCGTCTCCCCCGTCTCCCCCTTTTCCCCC TACTCCCCCTTCTCCCCCATCTCCCCCTTCTCCCCCGTCTCCCCCATCTC CCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTCT CCCCCTACTCCCCCGTCTCCCCCTTCTCCCCCTTTTCCCCCTACTCCCCC TTCTCCCCCAT		LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding					163		chr9	TogoVar
LUC7L_chr16_183990_234449	186934	G G	GGGGAACA others(188): Show GGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGAGGAACAG CGACACGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	336	0.0030	195	c.22 others(206): Show c.2263_*2264insTCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CTCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCT GTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTG TCGCTGTTCCC		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2055		chr16	TogoVar
LY6E_chr8_143013529_143027409	143014597	T T	TGTGTGAG others(188): Show TGTGTGAGGAGGAGGGAGTGCCGTGTGAGGAGGAGGGAGTCCCGTGTGAG GAGGAGGGAGTGCTGTGTGAGGAGGAGGAGGGAGTCCTGTGTGAGGAGGA GGGAGTCCCGTGTGAGGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTGC TGTGTGAGGAGGAGGAGGGAGTCCTGTGTGAGGAGGAGGGAGTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	249	0.0080	195	c.-40 others(206): Show c.-4047_-4046insGTGTGAGGAGGAGGGAGTGCCGTGTGAGGAGGAG GGAGTCCCGTGTGAGGAGGAGGGAGTGCTGTGTGAGGAGGAGGAGGGAGT CCTGTGTGAGGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTCCCGTGTG AGGAGGAGGGAGTGCTGTGTGAGGAGGAGGAGGGAGTCCTGTGTGAGGAG GAGGGAGTCCC		LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding					3931		chr8	TogoVar
MAGI3_chr1_113385515_113690923	113416187	A A	ATTATGTG others(188): Show ATTATGTGTAATTAATGACACATATTAATTATGTAATTAATGACACATAT TAATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATAT TAATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATAT TATTATGTAATTAATGACACATATTATTATGTAATTAATGACACAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01255.hp1 HG01517.hp2 others(11): Show HG00140.hp2 HG01255.hp1 HG01517.hp2 HG01943.hp2 HG02129.hp1 HG03654.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp1 NA18960.hp1 NA18978.hp1 NA19054.hp1 NA19058.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0002g0220 others(11): Show a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0004g0213 a0001c0002t0002g0208 a0001c0002t0002g0215 a0001c0002t0002g0222 a0001c0002t0002g0226 a0001c0002t0002g0230 a0001c0002t0002g0232 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0008g0219	14	220	0.0636	195	c.316 others(214): Show c.316+24838_316+24839insTTATGTGTAATTAATGACACATATTA ATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATATTA ATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATATTA ATTATGTAATTAATGACACATATTATTATGTAATTAATGACACATATTAT TATGTAATTAATGACACAT		MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20						chr1	TogoVar
MAP9_chr4_155337658_155381965	155378002	T T	TATTATAT others(188): Show TATTATATATATAATATATATATTATATATATTATATATATTATATATAT ATATTATATATATTATATATATAATATATATATATTATATATATAATATA TATAATATATATATATTATATATATAATATATATAATATATATATTATAT ATATAATATATATATATTATATATATATTTTATATAATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02717.hp2 HG02257.hp2 HG02717.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0014 a0006c0007t0014	a0006c0007t0014g0041 a0006c0007t0014g0041	2	237	0.0084	195	c.-12 others(206): Show c.-1297_-1296insTATAATATATTATATAAAATATATATATAATATA TATATATTATATATATAATATATATATTATATATATTATATATATAATAT ATATATATTATATATATTATATATATAATATATATATATTATATATATAA TATATATAATATATATATATAATATATATAATATATATAATATATATATT ATATATATAAT		MAP9	ENSG00000164114.19	transcript	ENST00000311277.9	protein_coding					1038		chr4	TogoVar
MAPK8IP1_chr11_45880651_45911465	45893251	T T	TAGAAAGG others(188): Show TAGAAAGGGCAGGACTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAAATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp1 HG02559.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	2	380	0.0053	195	c.102 others(212): Show c.102-4819_102-4818insAGCCGGGCGCGGTGGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAG CGGAGCTTGCAGTGAGCCGAAATTGCGCCACTGCAGTCCGCAGTCCCACC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAGAAAGGGCAGGACT		MAPK8IP1	ENSG00000121653.11	transcript	ENST00000241014.6	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
MBP_chr18_76973833_77137783	77118130	T T	TGGGATGG others(188): Show TGGGATGGGGGAGAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGT GGGATGGGGGAGAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGTG GGATGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGTGGG ATGGGGGAGAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	361	0.0028	195	c.-25 others(214): Show c.-25-12845_-25-12844insGCCCCAACCCACTGTCCCCATCCCAC CCCAACCCACTCTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCACC CCAACCCACTGTCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCC AACCCACTCTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCA ACCCACTCTCCCCCATCCC		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8						chr18	TogoVar
METRNL_chr17_83074609_83100122	83090506	A A	ACCCCCGC others(188): Show ACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCTGCCCCAG GGTGGGAGCCACACACACCCCCGCCCCACACACACACACCCCCGCCCCGC CCCAGGGTGGGAACCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACA CACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG01070.hp1 others(21): Show HG00423.hp1 HG00558.hp2 HG01070.hp1 HG01071.hp1 HG01496.hp1 HG02004.hp1 HG02083.hp1 HG02148.hp1 HG02273.hp1 NA18612.hp2 NA18947.hp2 NA18948.hp1 NA18961.hp1 NA18979.hp2 NA19007.hp1 NA19011.hp1 NA19054.hp2 NA19059.hp1 NA19064.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19087.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0247 a0001c0001t0001g0316 a0001c0001t0001g0323 a0001c0001t0001g0333 a0001c0001t0001g0336 a0001c0001t0001g0349 a0001c0001t0001g0354 a0001c0001t0002g0030 a0001c0001t0002g0358 a0001c0001t0008g0001 a0001c0016t0001g0322	24	278	0.0863	195	c.557 others(212): Show c.557-2651_557-2650insGCCCCAGGGTGGGAGCCACACACCCCCG CCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACAC CCCCGCCCCGCCCCAGGGTGGGAACCACACACCCCCGCCCTGCCCCAGGG TGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACA CACACACCCCCCGCCCC		METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(188): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	102	0.0098	195	c.107 others(214): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCC		MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
MMD2_chr7_4900998_4964187	4959937	A A	AGGGAGTG others(188): Show AGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGA AGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGA GTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGA GTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG04184.hp1 HG01884.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0034 a0001c0001t0003g0097 a0001c0001t0002g0034 a0001c0001t0003g0097	2	273	0.0073	195	c.-92 others(204): Show c.-921_-920insCACTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTA ACCCCCTCACTCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCCCA GGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAA GTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAACACCCCCACTT CCCACTCCC		MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding					751		chr7	TogoVar

Search by Variant

Search

Search Results