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
CACNA1A_chr19_13201442_13511479	13221222	C C	CTTTTCTT others(183): Show CTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTC TTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTCTCTCTCTCTCCCCT CTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0146 a0004c0007t0001g0146	1	157	0.0064	190	c.573 others(209): Show c.5731+3444_5731+3445insAAGAAAGAAAGAAAGAAAGAGAGAGA GAGAGAGAGAGAGAGAGGGGAGAGAGAGAGAGAGAAAGAAAGAAAGAGAA AGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAAGAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2667249	T T	TTCCATTT others(183): Show TTCCATTTCTCCCTCCTCTCCACCATGGCCACTCCACGCTCCTTTTCTCC CTCCTCTCCACCGTGGCCACTCCACGCTCCTTTTCTCCCTCCTCTCCACC GTGGCCACTCCACGCTCCTTTTCTCCCTCCTCTCCACCATGGCCACTCCA CGCTCCTTTTCTCCCTCCTCTCCACCGTGGCCACTCCACGC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0008 a0001c0010t0008	a0001c0010t0008g0069 a0001c0010t0008g0069	1	74	0.0135	190	c.462 others(207): Show c.4623+470_4623+471insATTTCTCCCTCCTCTCCACCATGGCCAC TCCACGCTCCTTTTCTCCCTCCTCTCCACCGTGGCCACTCCACGCTCCTT TTCTCCCTCCTCTCCACCGTGGCCACTCCACGCTCCTTTTCTCCCTCCTC TCCACCATGGCCACTCCACGCTCCTTTTCTCCCTCCTCTCCACCGTGGCC ACTCCACGCTCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	37/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2667249	T T	TTCCATTT others(183): Show TTCCATTTCTCCCTCCTCTCCACCATGGCCACTCTGTGCTCCTTTTCTCC CTCCTCTCCACCATGGCCACTCTGTGCTCCTTTTCTCCCTCCCCTCCACC ATGGCCACTCCACGCTCCTTTTCTCCCTCCCCTCCACCATGGCCACTCTG TGCTCCTTTTCTCCCTCCCCTCCACCATGGCCACTCTGTGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0035 a0001c0001t0015g0035	1	74	0.0135	190	c.462 others(207): Show c.4623+470_4623+471insATTTCTCCCTCCTCTCCACCATGGCCAC TCTGTGCTCCTTTTCTCCCTCCTCTCCACCATGGCCACTCTGTGCTCCTT TTCTCCCTCCCCTCCACCATGGCCACTCCACGCTCCTTTTCTCCCTCCCC TCCACCATGGCCACTCTGTGCTCCTTTTCTCCCTCCCCTCCACCATGGCC ACTCTGTGCTCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	37/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(183): Show TATATACATATATATACGTGTATATATATGTATATACATATATATACGTG TATATATATGTATATACATATATATACGTGTATATATATGTATATACATA TATATACACGTATATATATATATGTATATACATATATATACACGTATATA TATGTATATACATATATATACACGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0097 a0001c0001t0031g0097	1	49	0.0204	190	c.125 others(209): Show c.125-88284_125-88283insGTATATACATATATATACGTGTATAT ATATGTATATACATATATATACGTGTATATATATGTATATACATATATAT ATATACGTGTATATATATGTATATACATATATATACACGTATATATATGT ATATACATATATATACACGTATATATATGTATATACATATATATACACGT ATATATATGTATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CALB2_chr16_71353723_71395433	71376535	G G	GCATCCAC others(183): Show GCATCCACATTCAACCACACACACCCACATACATCTACATGCACCCACAT ACATCCACATCCAATCACATGTACCCACATCCATCCACATGCACCCACAT GCAACCACATGTGCCCACATACAGCCATATACACCCACATACAACCACAT ACATTCACATACAACCACATGCACCCACATACAACCACATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02572.hp1 HG02615.hp2 others(4): Show HG00738.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0221 a0001c0001t0001g0222 others(3): Show a0001c0001t0001g0043 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225	7	424	0.0165	190	c.262 others(206): Show c.262-1106_262-917dupACATACATCTACATGCACCCACATACATC CACATCCAATCACATGTACCCACATCCATCCACATGCACCCACATGCAAC CACATGTGCCCACATACAGCCATATACACCCACATACAACCACATACATT CACATACAACCACATGCACCCACATACAACCACATACATCCACATTCAAC CACACACACCC	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(183): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAGAATAGAATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0024 a0002c0003t0001g0024	1	62	0.0161	190	c.100 others(209): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAGAATAGAATAGAATAGA ATAGAATAGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CAMK2D_chr4_113446032_113766738	113563091	T T	TAAAAATA others(183): Show TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0146 a0001c0001t0004g0146	1	276	0.0036	190	c.276 others(209): Show c.276-10996_276-10995insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTT	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	4/20			chr4	TogoVar
CAMK4_chr5_111219384_111499886	111450625	T T	TAAAAATA others(183): Show TAAAAATACAAACAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0146 a0001c0001t0146	a0001c0001t0146g0234 a0001c0001t0146g0234	1	150	0.0067	190	c.625 others(207): Show c.625+1428_625+1429insACAAACAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAT	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMKMT_chr2_44356947_44777592	44410231	G G	GTATATAT others(183): Show GTATATATATATAGTCTATAGACTATATATATATATATATATATATATAT AGTCTATAGACTATATATATATATATATATATAGTCTATAGACTATATAT ATATATATATATATATATATATATAGTCTATAGACTATATATATATATAT ATATATATATATATATAGTCTATAGACTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	98	0.0102	190	c.376 others(209): Show c.376+19938_376+19939insGTCTATAGACTATATATATATATATA TATATATATATAGTCTATAGACTATATATATATATATATATATAGTCTAT AGACTATATATATATATATATATATATATATATATAGTCTATAGACTATA TATATATATATATATATATATATATATAGTCTATAGACTATATATATATA TATATATATATATA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP2_chr1_200733893_200865704	200816873	C C	CACACACG others(183): Show CACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACA CACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACA CACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACA CGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02293.hp1 HG02523.hp2 HG01928.hp1 HG02293.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0082 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0082	3	315	0.0095	190	c.645 others(207): Show c.645+1235_645+1236insGCGCGTGTATGTGTGTACACACACGCGC GTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGT GTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGT ATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTAT GTGTGTACACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816899	C C	CACACACG others(183): Show CACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACA CACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACA CACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACA CGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp2 HG01106.hp2 others(2): Show HG00735.hp1 HG01081.hp2 HG01106.hp2 HG01981.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0058 a0001c0001t0003g0070 others(2): Show a0001c0001t0003g0038 a0001c0001t0003g0058 a0001c0001t0003g0070 a0001c0001t0003g0195 a0001c0001t0003g0196	5	330	0.0152	190	c.645 others(207): Show c.645+1261_645+1262insGCGCGTGTATGTGTGTACACACACGCGC GTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGT GTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGT ATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTAT GTGTGTACACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816925	C C	CACACACG others(183): Show CACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACA CACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACA CACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACA CGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19006.hp1 HG02129.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0064 a0001c0001t0003g0036 a0001c0001t0003g0064	2	251	0.0080	190	c.645 others(207): Show c.645+1287_645+1288insGCGCGTGTATGTGTGTACACACACGCGC GTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGT GTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGT ATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTAT GTGTGTACACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN12_chr19_38725192_38749474	38735972	C C	CGGGGCGG others(183): Show CGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGG CGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0005 a0001c0025t0005	a0001c0025t0005g0292 a0001c0025t0005g0292	1	306	0.0033	190	c.158 others(207): Show c.1583+137_1583+138insCAGAACCCCCGCCCCGCCCCGCCCCGCC CCCAGAACCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCGCCCGCAG AACCACCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCCAGAACCC CCGCCCCGCCCCGCCCCGCCCGCAGAACCACCGCCCCGCCCCGCCCGCAG AACCACCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(183): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCA CGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0295	1	291	0.0034	190	c.-22 others(207): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761497	G G	GGGAAGGG others(183): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGAGGGAG AGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	47	0.0213	190	c.234 others(207): Show c.234+6810_234+6811insTCTTCTTCTTCTTCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCCTCTCCTTCTCCT TCTCCTTCTTCCTCTCCCTCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC171_chr9_15548043_15979037	15767830	T T	TCCCTCCC others(183): Show TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT CCTTCCTTGCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCTC CCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0004 a0004c0004t0003g0004	1	99	0.0101	190	c.267 others(209): Show c.2672-9768_2672-9767insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTTCCTTCCTTCCTTCCTTGCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC CCCCTCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTTCCCTTCCC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AATATATA others(183): Show AATATATATATATATATATATATATATATATATATATACTCATATATATA TATATACTCATATATATATATATACTCATATATATATATATTCATATATA TATACTCATATATATATATATTCATATATATATACTCATATATATATATA TACTCATATATATATATATTCATATATATATATATATATTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	218	0.0046	190	c.232 others(211): Show c.2326-11590_2326-11589insTATATATATATACTCATATATATA TATATACTCATATATATATATATACTCATATATATATATATTCATATATA TATACTCATATATATATATATTCATATATATATACTCATATATATATATA TACTCATATATATATATATTCATATATATATATATATATTCATATATATA TATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(183): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACACATATATGTGTGTATACGCATACACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	29	0.0345	190	c.27 others(201): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACACATATATGTGTGTATACGCAT ACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(183): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	29	0.0345	190	c.27 others(201): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(183): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	29	0.0345	190	c.27 others(201): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(183): Show TATATACACACGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02257.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	2	30	0.0667	190	c.27 others(201): Show c.2768_*2769insATATACACACGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(183): Show TATATACACACGTGTGTATATACGTATATACACACGTGTGTATATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	29	0.0345	190	c.27 others(201): Show c.2768_*2769insATATACACACGTGTGTATATACGTATATACACAC GTGTGTATATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CENPJ_chr13_24877279_24927861	24882088	A A	ATATATAG others(183): Show ATATATAGATACATCTATATAGATACATCTATATATAGATACATCTATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATAGATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0006 a0001c0010t0006	a0001c0010t0006g0031 a0001c0010t0006g0031	1	432	0.0023	190	c.10 others(201): Show c.1088_*1089insGATGTATCTATATATCTATATAGATGTATCTATA TATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATA TAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATA GATGTATCTATAGATGTATCTATATATAGATGTATCTATATAGATGTATC TATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		190		chr13	TogoVar
CFAP46_chr10_132803392_132947570	132923221	G G	GCCCTGGC others(183): Show GCCCTGGCCTCGAGCAGCCATGTGGGGGTGCCCTGGAACCCCTGGCCTTG AGCAGCCATGTGGGGGTGCCCTGGAACCCCTGGCCTTGAGCAGCCATGTG GGGGTGCCCTGGAACCCCTGGCCTTGAGCAGCCATGTGGGGGTGCCCTGG AACCCCTGGCCTCGAGCAGCCATGTGGGGGTGCCCTGGAAC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0129 a0005c0006t0001g0129	1	240	0.0042	190	c.125 others(207): Show c.1257-514_1257-513insGTTCCAGGGCACCCCCACATGGCTGCTC GAGGCCAGGGGTTCCAGGGCACCCCCACATGGCTGCTCAAGGCCAGGGGT TCCAGGGCACCCCCACATGGCTGCTCAAGGCCAGGGGTTCCAGGGCACCC CCACATGGCTGCTCAAGGCCAGGGGTTCCAGGGCACCCCCACATGGCTGC TCGAGGCCAGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	11/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132923231	C C	CGAGCAGC others(183): Show CGAGCAGCCATGTGGGGGTGCCCTGGAACCCCTGGCCTTGAGCAGCCATG TGGGGGTGCCCTGGAACCCCTGGCCTTGAGCAGCCATGTGGGGGTGCCCT GGAACCCCTGGCCTTGAGCAGCCATGTGGGGGTGCCCTGGAACCCCTGGC CTCGAGCAGCCATGTGGGGGTGCCCTGGAACCCCTGGCCTT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0204 a0002c0023t0001g0204	1	157	0.0064	190	c.125 others(207): Show c.1257-524_1257-523insAAGGCCAGGGGTTCCAGGGCACCCCCAC ATGGCTGCTCGAGGCCAGGGGTTCCAGGGCACCCCCACATGGCTGCTCAA GGCCAGGGGTTCCAGGGCACCCCCACATGGCTGCTCAAGGCCAGGGGTTC CAGGGCACCCCCACATGGCTGCTCAAGGCCAGGGGTTCCAGGGCACCCCC ACATGGCTGCTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	11/57			chr10	TogoVar
CHEK2_chr22_28682743_28746820	28730264	G G	GAGGAGAG others(183): Show GAGGAGAGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGAGGGGAGGGGAGG GGAGGGGAGGAGAGGAGGGGAGGGGAGGGGAGGAGAGGAGGGGAGGGGAG GGGAGGAGGGGAGGGGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGAGGGGAGAGAAGAGGAGAGGAGAAGAGAGTGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02055.hp1 HG02109.hp2 others(22): Show HG01192.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0057	25	26	0.9615	190	c.319 others(207): Show c.319+4138_319+4139insTTCCCTTCCACTCTCTTCTCCTCTCCTC TTCTCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCCC CTCCCCTCCTCCCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCTCCCCTCC TCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTC CTCTCCTCTCCT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28730264	G G	GAGGAGAG others(183): Show GAGGAGAGGAGAGGAGGGGAGGGGAGGAGAGGGGAGGAGGGGAGGGGAGG GGAGGGGAGGAGAGGAGGGGAGGGGAGGGGAGGAGAGGAGGGGAGGGGAG GGGAGGAGGGGAGGGGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGAGGGGAGAGAAGAGGAGAGGAGAAGAGAGTGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	2	0.5000	190	c.319 others(207): Show c.319+4138_319+4139insTTCCCTTCCACTCTCTTCTCCTCTCCTC TTCTCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCCC CTCCCCTCCTCCCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCTCCCCTCC TCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCTCCTCCCCTCCCCTC CTCTCCTCTCCT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHRNA7_chr15_32025515_32178018	32154878	C C	CACCTCAC others(183): Show CACCTCACACACACAACACACCACTCAGTACTCACACACACCACTCACAC CACTCACACTACTCACACCACTCATACACACCACCCACACACACTGTTCA CACAACACACACACCACTCACAATCACACACACCACTCACACAACCACTC ACATACCACCCACATGACTCAACACACACACCACTCACACA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02922.hp2 HG03195.hp1 others(2): Show HG02896.hp2 HG02922.hp2 HG03195.hp1 HG03195.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0015 a0001c0004 a0003c0015	a0001c0004t0017 a0001c0004t0025 a0003c0015t0025 a0001c0004t0017 a0001c0004t0025 a0003c0015t0025	a0001c0004t0017g0044 a0001c0004t0017g0123 a0001c0004t0017g0183 others(2): Show a0001c0004t0017g0044 a0001c0004t0017g0123 a0001c0004t0017g0183 a0001c0004t0025g0190 a0003c0015t0025g0207	5	8	0.6250	190	c.430 others(205): Show c.430+893_430+894insCCTCACACACACAACACACCACTCAGTACT CACACACACCACTCACACCACTCACACTACTCACACCACTCATACACACC ACCCACACACACTGTTCACACAACACACACACCACTCACAATCACACACA CCACTCACACAACCACTCACATACCACCCACATGACTCAACACACACACC ACTCACACAA	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHST5_chr16_75523530_75541108	75526189	G G	GTGTGCAT others(183): Show GTGTGCATGTGTGTGTGCATGTGAGTGTGCATGTGAGTGTGCATGTGTGT GTGCATGTGAGTGTGCATGTGTGTGCATGTGAGTGTGCATGTGAGTGTGC ATGTGTGTGTGCATGTGAGTGTGCATGTGAGTGTGCATGTGTGTGTGCAT GTGAGTGTGCATGTGAGTGTGCATGTGTGTGTGCATGTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0013 a0004c0006t0013	a0004c0006t0013g0022 a0004c0006t0013g0022	1	382	0.0026	190	c.29 others(201): Show c.2959_*2960insGTCACATGCACACACACATGCACACTCACATGCA CACTCACATGCACACACACATGCACACTCACATGCACACTCACATGCACA CACACATGCACACTCACATGCACACTCACATGCACACACATGCACACTCA CATGCACACACACATGCACACTCACATGCACACTCACATGCACACACACA TGCACA	CHST5	ENSG00000135702.15	transcript	ENST00000336257.8	protein_coding		2340		chr16	TogoVar
CLDN7_chr17_7254903_7267478	7257617	T T	TTTTTTTT others(183): Show TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0013 a0003c0005t0002g0013	1	415	0.0024	190	c.27 others(201): Show c.2756_*2757insTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAA	CLDN7	ENSG00000181885.18	transcript	ENST00000360325.11	protein_coding		2285		chr17	TogoVar
CNOT3_chr19_54132762_54160681	54133923	C C	CCCCTCTC others(183): Show CCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTC ACTCCACCTTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACCTCC CCTCCCTCTCTTCCTCCCTCTCCACCTTCCCCTCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	205	0.0049	190	c.-41 others(201): Show c.-4121_-4120insCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTC CCTCTCTCCACCTCCCCTCCCTCTCTTCCTCCCTCTCCACCTTCCCCTCT CTCCCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3838		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133984	C C	CACCTCCC others(183): Show CACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCCCTCTCTCCTCCCCTC TCCCCCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCCCTCTCT CCACCTTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTC CCTCTCTCCTCCCCTCTCCCCCTCCCTCCCTCTCTCCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	211	0.0047	190	c.-40 others(201): Show c.-4060_-4059insACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCC CTCTCTCCTCCCCTCTCCCCCTCCCTCCCTCTCTCCACCTCCCCTCTCTC CCTCCCTCCCTCTCTCCACCTTCCCTCTCTCCACCTCCCCTCTCTCCCTC CCTCTCTCCACCTTCCCTCTCTCCTCCCCTCTCCCCCTCCCTCCCTCTCT CCACCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3777		chr19	TogoVar
COL23A1_chr5_178232618_178595393	178294437	C C	CCCCAAAT others(183): Show CCCCAAATCACTACCGAGCTCCCTCCCCAAATCACTACCGAGCTCCCTCC CAAATCACTACCGAGCTCCCTCCCCAAATCACTACCGAGCTCCCTCCCCA AATCACTACCGAGCTCCCTCCCCAAATCACTACCCAGCTCCCTCCCCAAA TCACTACCGAGCTCCCTCCCCAAATCACTACCGAGCTCCCT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	236	0.0042	190	c.407 others(207): Show c.407-4069_407-4068insAGGGAGCTCGGTAGTGATTTGGGGAGGG AGCTCGGTAGTGATTTGGGGAGGGAGCTGGGTAGTGATTTGGGGAGGGAG CTCGGTAGTGATTTGGGGAGGGAGCTCGGTAGTGATTTGGGGAGGGAGCT CGGTAGTGATTTGGGAGGGAGCTCGGTAGTGATTTGGGGAGGGAGCTCGG TAGTGATTTGGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	3/28			chr5	TogoVar
CRACDL_chr2_98788846_98941225	98930285	T T	TCCATCCC others(183): Show TCCATCCCCACCCTCTGTACCGTGTCCCCTACCCCATCCCCGTCCCCACC CTCTGTACCGTGTCCCCTACCCCATCCCCGTCCCCACCCTCTGTACCGTG TCCCCTACCCCATCCCCGTCCCCACCCTCTGTACCGTGTCCCCTACCCCA TCCCCGTCCCCACCCTCTGTACCGTGTCCCCTACCCCATCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0185	1	305	0.0033	190	c.-11 others(207): Show c.-11+5652_-11+5653insGGATGGGGTAGGGGACACGGTACAGAGG GTGGGGACGGGGATGGGGTAGGGGACACGGTACAGAGGGTGGGGACGGGG ATGGGGTAGGGGACACGGTACAGAGGGTGGGGACGGGGATGGGGTAGGGG ACACGGTACAGAGGGTGGGGACGGGGATGGGGTAGGGGACACGGTACAGA GGGTGGGGATGG	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	1/9			chr2	TogoVar
CRACDL_chr2_98788846_98941225	98930440	G G	GTCCCCAC others(183): Show GTCCCCACCCTCTGTACCGTGTCCCCTACCCCATCCCCGTCCCCACCCTC TGTACCGTGTCCCCTACCCCATCCCCGTCCCCACCCTCTGTACCGTGTCC CCTACCCCATCCCCGTCCCCACCCTCTGTACCGTGTCCCCTACCCCATCC CCGTCCCCACCCTCTGTACCGTGTCCCCTACCCCATCCCCA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp1 HG02976.hp1 HG02809.hp1 HG02895.hp1 HG02976.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0003 a0005c0005t0001 a0001c0001t0003 a0005c0005t0001	a0001c0001t0003g0186 a0001c0001t0003g0187 a0005c0005t0001g0188 a0001c0001t0003g0186 a0001c0001t0003g0187 a0005c0005t0001g0188	3	224	0.0134	190	c.-11 others(207): Show c.-11+5497_-11+5498insTGGGGATGGGGTAGGGGACACGGTACAG AGGGTGGGGACGGGGATGGGGTAGGGGACACGGTACAGAGGGTGGGGACG GGGATGGGGTAGGGGACACGGTACAGAGGGTGGGGACGGGGATGGGGTAG GGGACACGGTACAGAGGGTGGGGACGGGGATGGGGTAGGGGACACGGTAC AGAGGGTGGGGA	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	1/9			chr2	TogoVar
CRELD2_chr22_49913634_49932537	49917986	A A	AGCCCCAG others(183): Show AGCCCCAGGTGAGAGGTCCAGCCCCAGGTGAGAGGTCCGGCCCCACGTGG GAGGTCCGGCCCCAGGTGAGGAGCCCGGCCCCAGGTGAGAGGTCCGGCCC CAGGTGAGAGGTCCGGCCCCAGGTGAGAGGTCCGGCCCCAGGTGGGAGGT CCGGCCCCAGGTGGGAGTTCCGGCCCCAGGTGAGGAGCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG01123.hp1 others(20): Show HG00438.hp1 HG00642.hp2 HG01123.hp1 HG01433.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02056.hp2 HG03239.hp1 HG03704.hp1 HG04228.hp2 NA18939.hp1 NA18947.hp1 NA18952.hp1 NA18967.hp2 NA18974.hp1 NA18980.hp2 NA18989.hp1 NA18994.hp1 NA19007.hp1 NA19012.hp1 NA19065.hp2 NA19086.hp2	a0003 a0003	a0003c0004 a0003c0017 a0003c0004 a0003c0017	a0003c0004t0002 a0003c0004t0007 a0003c0017t0002 a0003c0004t0002 a0003c0004t0007 a0003c0017t0002	a0003c0004t0002g0003 a0003c0004t0002g0031 a0003c0004t0002g0032 others(10): Show a0003c0004t0002g0003 a0003c0004t0002g0031 a0003c0004t0002g0032 a0003c0004t0002g0113 a0003c0004t0002g0114 a0003c0004t0002g0136 a0003c0004t0002g0137 a0003c0004t0002g0139 a0003c0004t0002g0140 a0003c0004t0002g0142 a0003c0004t0002g0144 a0003c0004t0007g0135 a0003c0017t0002g0138	23	261	0.0881	190	c.-78 others(199): Show c.-784_-783insGCCCCAGGTGAGAGGTCCAGCCCCAGGTGAGAGGTC CGGCCCCACGTGGGAGGTCCGGCCCCAGGTGAGGAGCCCGGCCCCAGGTG AGAGGTCCGGCCCCAGGTGAGAGGTCCGGCCCCAGGTGAGAGGTCCGGCC CCAGGTGGGAGGTCCGGCCCCAGGTGGGAGTTCCGGCCCCAGGTGAGGAG CCCG	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding		647		chr22	TogoVar
CRELD2_chr22_49913634_49932537	49917986	A A	AGCCCCAG others(183): Show AGCCCCAGGTGAGAGGTCCAGCCCCAGGTGAGAGGTCCGGCCCCAGGTGG GAGGTCCGGCCCCAGGTGAGGAGCCCGGCCCCAGGTGAGAGGTCCGGCCC CAGGTGAGAGGTCCGGCCCCAGGTGAGAGGTCCGGCCCCAGGTGGGAGGT CCGGCCCCAGGTGGGAGTTCCGGCCCCAGGTGAGGAGCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0115 a0001c0016t0002g0115	1	239	0.0042	190	c.-78 others(199): Show c.-784_-783insGCCCCAGGTGAGAGGTCCAGCCCCAGGTGAGAGGTC CGGCCCCAGGTGGGAGGTCCGGCCCCAGGTGAGGAGCCCGGCCCCAGGTG AGAGGTCCGGCCCCAGGTGAGAGGTCCGGCCCCAGGTGAGAGGTCCGGCC CCAGGTGGGAGGTCCGGCCCCAGGTGGGAGTTCCGGCCCCAGGTGAGGAG CCCG	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding		647		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955479	G G	GATATATA others(183): Show GATATATATATATTTCTATATATATATATATATATATATTTCTATATATA TATATTTCTATATATATATATATATTTCTATATATATATTTCTATATATA TATATATTTCTATATATATATATATTTCTATATATATATATATTTCTATA TATATATATATTTCTATATATATATATATTTCTATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02165.hp2 HG02027.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0025 a0001c0001t0003 a0001c0001t0025	a0001c0001t0003g0094 a0001c0001t0025g0076 a0001c0001t0003g0094 a0001c0001t0025g0076	2	287	0.0070	190	c.56 others(201): Show c.5634_*5635insATATATATATATTTCTATATATATATATATATAT ATATTTCTATATATATATATTTCTATATATATATATATATTTCTATATAT ATATTTCTATATATATATATATTTCTATATATATATATATTTCTATATAT ATATATATTTCTATATATATATATATTTCTATATATATATATATTTCTAT ATATAT	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1733		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(183): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATTT CTATATATATATATATATTTCTATATATATATATATTTCTATATATATAT ATTTCTATATATATATATTTCTATATATATATATTTCTATATATATATAT TTCTATATATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 NA18942.hp2 HG01516.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0321 a0001c0001t0001g0284 a0001c0001t0001g0321	2	157	0.0127	190	c.56 others(201): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATTTCTATATATATATATATATTTCTATATATATATATA TTTCTATATATATATATTTCTATATATATATATTTCTATATATATATATT TCTATATATATATATTTCTATATATATATATATATTTCTATATATATATA TATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CROCC2_chr2_240901336_240998311	240923609	G G	GGCCCCCA others(183): Show GGCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACC CGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCCACACTGA CCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACT AACCCGGCCCCCCACACTGACCCGGCCCCCACACTGACCCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0002 a0001c0067t0002	a0001c0067t0002g0278 a0001c0067t0002g0278	1	241	0.0041	190	c.488 others(205): Show c.488+982_488+983insTCCCCACACTAACCCAGCCCCCACACTAAC CCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCCACACTG ACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACAC TAACCCGGCCCCCCACACTGACCCGGCCCCCACACTGACCCAGCCCCCAC ACTAACCCAG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924061	G G	GCCCCCCA others(183): Show GCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTGACC CGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAAC CCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTA ATCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0033 a0033	a0033c0049 a0033c0049	a0033c0049t0001 a0033c0049t0001	a0033c0049t0001g0200 a0033c0049t0001g0200	1	282	0.0035	190	c.488 others(207): Show c.488+1421_488+1422insCACACTAACCCGGCCCCCACACTAACCC GGCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCACACTAACC CGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAA CCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCCACACTA ACCCGGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924204	C C	CCCCCACA others(183): Show CCCCCACACTAACCCAGCCCTCACACTAACCCAGCCCCCACACTAACCCG GCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAAC CCGGCCCCCACACTGACCCAGCCCCCACACTAACCCAGTCCCCACACTAA CCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCTAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0263 a0002c0002t0002g0263	1	340	0.0029	190	c.489 others(207): Show c.489-1506_489-1505insAGCCCTCACACTAACCCAGCCCCCACAC TAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCA CACTAACCCGGCCCCCACACTGACCCAGCCCCCACACTAACCCAGTCCCC ACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCTAACC CCACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924643	C C	CACACTAA others(183): Show CACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGT CCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCACACTAACCCAG TCCCCACACTGACCCGGCCCCCACACTGACCCGGTCCCCACACTATCCCG GCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0006 a0002c0021t0006	a0002c0021t0006g0083 a0002c0021t0006g0086 a0002c0021t0006g0083 a0002c0021t0006g0086	2	343	0.0058	190	c.489 others(207): Show c.489-1075_489-1074insACCCAGCCCCCCACACTAACCCGGCCCC CCACACTAACCCAGTCCCCACACTGACCCGGCCCCCACACTGACCCGGCC CCCACACTAACCCAGTCCCCACACTGACCCGGCCCCCACACTGACCCGGT CCCCACACTATCCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAG CCCCCAACACTA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924651	C C	CCCAGTCC others(183): Show CCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTA ATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCCCACA CTAACCCAGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCA CACTAATCCGGCCCCCACACTGACCCGGCCCCCCACACTAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0004 a0004	a0004c0050 a0004c0050	a0004c0050t0003 a0004c0050t0003	a0004c0050t0003g0210 a0004c0050t0003g0210	1	348	0.0029	190	c.489 others(207): Show c.489-1071_489-1070insAGTCCCCACACTAACCCAGTCCCCACAC TAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCTCAC ACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCC CACACTAACCCAGCCCCCACACTAATCCGGCCCCCACACTGACCCGGCCC CCCACACTAACC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924657	C C	CCCCACAC others(183): Show CCCCACACTAACCCAGCCCCCCACACTACCCCGGCCCCCACACTGACCCA GCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCCACACTAAC CCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCACACTA ACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	310	0.0032	190	c.489 others(207): Show c.489-1064_489-1063insACACTAACCCAGCCCCCCACACTACCCC GGCCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCACACTGAC CCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTA ACCCAGTCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACAC TAACCCAGTCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924724	A A	AGCCCCCA others(183): Show AGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAAC CCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACT AACCCGGCCCCCACACTGACCCGGCCCCCACACTAACCCAGCCCCCACAC TAATCCGGCCCCCACACTAACCCGGCCCCCACACTGACCCG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0089 a0001c0089	a0001c0089t0001 a0001c0089t0001	a0001c0089t0001g0158 a0001c0089t0001g0158	1	268	0.0037	190	c.489 others(205): Show c.489-984_489-983insGGCCCCCCACACTAACCCAGTCCCCACACT AACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCAC ACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTAACCCAGCCCCCA CACTAATCCGGCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCC ACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTC3_chr15_90524923_90650345	90647246	T T	TCAATCCT others(183): Show TCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCT CCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACA CCCCTCCTCCTCCACAATCCTCCTCCTCACCCCTCCTCCTCCACAATCCT CCTCCTCACCCCTCCTCCTCTGCCACACCCCTACTCCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	241	0.0041	190	c.51 others(201): Show c.5106_*5107insCAATCCTCCTCCACACCCCTCCTCCTCCACAATC CTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCT CAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCTCACCCCTC CTCCTCCACAATCCTCCTCCTCACCCCTCCTCCTCTGCCACACCCCTACT CCTCCA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1902		chr15	TogoVar
CSF2RA_chrX_1263814_1314935	1314624	C C	CACTGCAC others(183): Show CACTGCACTTGCCCAACCCCTCTGTGCCTGCCCAACCCCACGGCACCTGC CCAACCGCACTGCACCTGCCCAATCCCACTGCACCTGCCCAACCACACTG CACCTGCCCAACCCCACTGCGCCTGCCCAACCCCACTGCATCTGCCCAAC CACTCTGTGCCTGCCCAACCACACTGCACCTGCCTAACCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0150 a0002c0003t0002g0150	1	152	0.0066	190	c.51 others(201): Show c.5145_*5146insACTGCACTTGCCCAACCCCTCTGTGCCTGCCCAA CCCCACGGCACCTGCCCAACCGCACTGCACCTGCCCAATCCCACTGCACC TGCCCAACCACACTGCACCTGCCCAACCCCACTGCGCCTGCCCAACCCCA CTGCATCTGCCCAACCACTCTGTGCCTGCCCAACCACACTGCACCTGCCT AACCGT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4690		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314832	G G	GCACTGCA others(183): Show GCACTGCACCTGCCCAACCACACTGAACCTGCTCAACCCCACTTCACCTG CCCAACCGCACTGCACTTGCCCAACCCCTCTGTGCCTGCCCAACCCCACT GCACTTGCCCAATTGCACTGCACCTGCCCAACCCCAATGCACCTACCCAA CCCCACTGTGCCTGCCCAACCGCACTGCACCTGCCCAATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	141	0.0071	190	c.53 others(201): Show c.5353_*5354insCACTGCACCTGCCCAACCACACTGAACCTGCTCA ACCCCACTTCACCTGCCCAACCGCACTGCACTTGCCCAACCCCTCTGTGC CTGCCCAACCCCACTGCACTTGCCCAATTGCACTGCACCTGCCCAACCCC AATGCACCTACCCAACCCCACTGTGCCTGCCCAACCGCACTGCACCTGCC CAATCC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4898		chrX	TogoVar
CYP20A1_chr2_203234018_203311026	203251779	C C	CTATATAT others(183): Show CTATATATATATGTGTGTATATATATATATATATATATATATATGTGTAT ATATATATATATATATATATATGTGTATATATATATATATATATATATAT GTGTATATATATATATATATATATGTGTATATATATATATATATATATAT ATGTGTATATATATATATATATATATGTGTATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0053 a0002c0002t0053	a0002c0002t0053g0255 a0002c0002t0053g0255	1	328	0.0030	190	c.290 others(205): Show c.290-173_290-172insGTATATATATATATATATATATATATATGT GTATATATATATATATATATATATATGTGTATATATATATATATATATAT ATATGTGTATATATATATATATATATATGTGTATATATATATATATATAT ATATATGTGTATATATATATATATATATATGTGTATATATATATATATAT ATATATGTGT	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results