Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
C1QTNF2_chr5_160342754_160375626	160357744	AGGCAGAA others(37): Show AGGCAGAAAAGAGAGCCAGCCGGACGAGAGAGAGGGAGAGAGACT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19091.hp2 HG06807.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0002t0016 a0001c0001t0021 a0001c0002t0016	a0001c0001t0021g0200 a0001c0002t0016g0059 a0001c0001t0021g0200 a0001c0002t0016g0059	2	452	0.0044	-44	c.-9- others(59): Show c.-9-2768_-9-2725delAGTCTCTCTCCCTCTCTCTCGTCCGGCTGG CTCTCTTTTCTGCC	C1QTNF2	ENSG00000145861.9	transcript	ENST00000652664.2	protein_coding	1/2			chr5	TogoVar
C1QTNF2_chr5_160342754_160375626	160357832	TGGCAGAA others(37): Show TGGCAGAAAAGAGAGCCAGCCGGACGAGAGAGAGGGAGAGAGACA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03209.hp2 HG06807.hp2 others(1): Show HG02257.hp1 HG03209.hp2 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0237 a0001c0002t0001g0018 a0001c0002t0001g0237	4	452	0.0089	-44	c.-9- others(59): Show c.-9-2856_-9-2813delTGTCTCTCTCCCTCTCTCTCGTCCGGCTGG CTCTCTTTTCTGCC	C1QTNF2	ENSG00000145861.9	transcript	ENST00000652664.2	protein_coding	1/2			chr5	TogoVar
C1orf174_chr1_3884133_3905272	3895515	GCTGGAAG others(37): Show GCTGGAAGCGCTGGCTGTTAACAGACACCTGAGGATCTGGTGGGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(104): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00673.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01175.hp1 HG01515.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02293.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18991.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19072.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0001 a0001c0004 a0001c0007 others(4): Show a0001c0001 a0001c0004 a0001c0007 a0001c0010 a0003c0006 a0006c0011 a0007c0013	a0001c0001t0003 a0001c0001t0011 a0001c0001t0020 others(7): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0020 a0001c0001t0021 a0001c0004t0004 a0001c0007t0003 a0001c0010t0003 a0003c0006t0003 a0006c0011t0004 a0007c0013t0019	a0001c0001t0003g0001 a0001c0001t0003g0019 a0001c0001t0003g0020 others(21): Show a0001c0001t0003g0001 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0045 a0001c0001t0003g0135 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0011g0046 a0001c0001t0020g0152 a0001c0001t0021g0153 a0001c0004t0004g0010 a0001c0004t0004g0011 a0001c0004t0004g0049 a0001c0004t0004g0050 a0001c0007t0003g0018 a0001c0010t0003g0137 a0003c0006t0003g0017 a0006c0011t0004g0051 a0007c0013t0019g0048	107	440	0.2432	-44	c.16- others(59): Show c.16-2563_16-2520delGCCCACCAGATCCTCAGGTGTCTGTTAACA GCCAGCGCTTCCAG	C1orf174	ENSG00000198912.12	transcript	ENST00000361605.4	protein_coding	1/3			chr1	TogoVar
C1orf43_chr1_154201720_154225590	154203172	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 NA19240.hp1 HG02145.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0147 a0001c0001t0002g0064 a0001c0001t0002g0147	2	374	0.0054	-44	c.42 others(55): Show c.4237_*4280delATATATATATATATATATATATATATATATATAT ATATATATAT	C1orf43	ENSG00000143612.21	transcript	ENST00000368521.10	protein_coding		3547		chr1	TogoVar
C20orf141_chr20_2809987_2820830	2820295	CGTAATTC others(37): Show CGTAATTCCTGAAATTCCTTTAAAAGTAGAAAAAGAAGTCCATTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	414	0.0024	-44	c.45 others(55): Show c.4521_*4564delGTAATTCCTGAAATTCCTTTAAAAGTAGAAAAAG AAGTCCATTT	C20orf141	ENSG00000258713.3	transcript	ENST00000603872.2	protein_coding		4466		chr20	TogoVar
C20orf96_chr20_265863_295750	279085	AGGGCGGG others(37): Show AGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	410	0.0024	-44	c.465 others(57): Show c.465+43_465+86delAACCTCCGTCCCTCCCTCCCTCCCTCCGTCCC TCCGTCCCGCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C22orf42_chr22_32144006_32164303	32146684	GTATATAT others(37): Show GTATATATTATATATATTTATATGTATATATTATATATATTTATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02572.hp2 HG02896.hp2 others(2): Show HG02109.hp2 HG02572.hp2 HG02896.hp2 HG03486.hp2 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0031 a0002c0002t0004g0055 a0002c0002t0004g0056 others(1): Show a0002c0002t0004g0031 a0002c0002t0004g0055 a0002c0002t0004g0056 a0002c0002t0004g0057	5	398	0.0126	-44	c.28 others(55): Show c.2812_*2855delTATAAATATATATAATATATACATATAAATATAT ATAATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2321		chr22	TogoVar
C2CD2_chr21_41880112_41959018	41931864	ACATCCCA others(37): Show ACATCCCACCACCCCACCTCCAGCATCCCACCACCCCACCTCCAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(98): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp1 HG01433.hp2 HG01496.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02523.hp1 HG02602.hp1 HG02698.hp2 HG02738.hp2 HG03017.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18961.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18992.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19078.hp2 NA19081.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0013 a0002c0010 a0002c0018 a0003c0009 a0004c0016 a0005c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0025 a0001c0002t0029 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0003t0008 a0001c0003t0011 a0001c0003t0012 a0001c0003t0027 a0001c0003t0043 a0001c0005t0007 a0001c0006t0003 a0001c0006t0008 a0001c0007t0005 a0001c0013t0001 a0001c0013t0004 a0002c0010t0008 a0002c0010t0016 a0002c0018t0010 a0003c0009t0007 a0003c0009t0032 a0004c0016t0001 a0004c0016t0004 a0005c0019t0003	a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0001t0001g0042 others(98): Show a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0177 a0001c0001t0001g0380 a0001c0001t0002g0011 a0001c0001t0002g0182 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0373 a0001c0001t0002g0374 a0001c0001t0002g0386 a0001c0001t0003g0044 a0001c0001t0003g0072 a0001c0001t0003g0183 a0001c0001t0003g0383 a0001c0001t0003g0384 a0001c0001t0004g0038 a0001c0001t0004g0151 a0001c0001t0004g0189 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0288 a0001c0001t0004g0325 a0001c0001t0005g0287 a0001c0001t0006g0375 a0001c0001t0011g0210 a0001c0001t0013g0142 a0001c0001t0013g0371 a0001c0001t0014g0030 a0001c0001t0014g0032 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0175 a0001c0002t0001g0201 a0001c0002t0001g0362 a0001c0002t0001g0393 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0022 a0001c0002t0002g0128 a0001c0002t0002g0216 a0001c0002t0002g0364 a0001c0002t0002g0376 a0001c0002t0002g0382 a0001c0002t0003g0217 a0001c0002t0004g0088 a0001c0002t0004g0184 a0001c0002t0006g0071 a0001c0002t0006g0101 a0001c0002t0006g0191 a0001c0002t0006g0381 a0001c0002t0007g0378 a0001c0002t0025g0002 a0001c0002t0029g0363 a0001c0003t0001g0045 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0209 a0001c0003t0001g0218 a0001c0003t0001g0377 a0001c0003t0002g0199 a0001c0003t0003g0026 a0001c0003t0003g0034 a0001c0003t0003g0048 a0001c0003t0003g0055 a0001c0003t0003g0195 a0001c0003t0004g0170 a0001c0003t0004g0213 a0001c0003t0004g0219 a0001c0003t0006g0047 a0001c0003t0006g0070 a0001c0003t0006g0173 a0001c0003t0006g0214 a0001c0003t0006g0215 a0001c0003t0007g0370 a0001c0003t0008g0347 a0001c0003t0011g0185 a0001c0003t0012g0239 a0001c0003t0027g0178 a0001c0003t0043g0200 a0001c0005t0007g0308 a0001c0006t0003g0320 a0001c0006t0008g0387 a0001c0007t0005g0041 a0001c0013t0001g0389 a0001c0013t0004g0171 a0002c0010t0008g0023 a0002c0010t0016g0351 a0002c0018t0010g0150 a0003c0009t0007g0169 a0003c0009t0007g0208 a0003c0009t0007g0292 a0003c0009t0032g0039 a0004c0016t0001g0190 a0004c0016t0004g0126 a0004c0016t0004g0127 a0005c0019t0003g0037	101	396	0.2551	-44	c.379 others(61): Show c.379-9823_379-9780delCTGGAGGTGGGGTGGTGGGATGCTGGAG GTGGGGTGGTGGGATG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	2/13			chr21	TogoVar
C2CD3_chr11_74007718_74176002	74077771	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	318	0.0031	-44	c.460 others(61): Show c.4603+300_4603+343delTATATATATATATATATATATATATATA TATATATATATATATA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	23/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74077803	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0259 a0003c0002t0001g0259	1	318	0.0031	-44	c.460 others(61): Show c.4603+268_4603+311delAATATATATATATATATATATATATATA TATATATATATATATA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	23/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74117031	TATATATA others(37): Show TATATATACGTGTGTGTGTATATATATATGAATATATATATATGA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0249 a0003c0016t0001g0249	1	318	0.0031	-44	c.152 others(63): Show c.1520+1153_1520+1196delTCATATATATATATTCATATATATAT ACACACACACGTATATAT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74117143	AATATATA others(37): Show AATATATATATATGAATATATATATATGAATATATATATATGAAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0021 a0021	a0021c0023 a0021c0023	a0021c0023t0001 a0021c0023t0001	a0021c0023t0001g0132 a0021c0023t0001g0132	1	318	0.0031	-44	c.152 others(63): Show c.1520+1041_1520+1084delATTCATATATATATATTCATATATAT ATATTCATATATATATAT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C4orf17_chr4_99506021_99547303	99506622	TTTCTTTT others(37): Show TTTCTTTTCTTTCTTTCTGTCTTTCTGTCTGTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0277 a0005c0006t0001g0277	1	386	0.0026	-44	c.-47 others(55): Show c.-4743_-4700delTTCTTTTCTTTCTTTCTGTCTTTCTGTCTGTCTT TCTTTCTTTC	C4orf17	ENSG00000138813.10	transcript	ENST00000326581.9	protein_coding		4398		chr4	TogoVar
C5AR2_chr19_47327175_47352329	47336421	TTTCTTTC others(37): Show TTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0174 a0001c0001t0005g0174	1	406	0.0025	-44	c.-16 others(61): Show c.-16+4076_-16+4119delTTTCTTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTC	C5AR2	ENSG00000134830.6	transcript	ENST00000595464.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
C7orf50_chr7_992006_1143247	1011463	AGACACAC others(37): Show AGACACACCCACACCCAGACACACCTTCACACGCCCAGACACCCT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02965.hp1 HG01167.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0247 a0001c0001t0008g0157 a0001c0001t0005g0247 a0001c0001t0008g0157	2	326	0.0061	-44	c.130 others(61): Show c.130-1364_130-1321delAGGGTGTCTGGGCGTGTGAAGGTGTGTC TGGGTGTGGGTGTGTC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1129387	CGTCACCC others(37): Show CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp1 NA18522.hp1 HG02622.hp2 HG02809.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246	3	326	0.0092	-44	c.-1- others(59): Show c.-1-2045_-1-2002delTGGGATGAGCCGAGATGGCGCCACTGCACT CCAGCCCGGGTGAC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1136098	GTATATAA others(37): Show GTATATAAATATATATACATAAATATATATAAATATATACATAAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01074.hp1 others(35): Show HG00642.hp2 HG00738.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp1 HG01255.hp1 HG01361.hp1 HG01361.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01993.hp2 HG02071.hp1 HG02145.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02698.hp2 HG02809.hp2 HG02818.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG04204.hp1 HG04204.hp2 NA18948.hp1 NA18959.hp2 NA18963.hp2 NA18964.hp1 NA18975.hp1 NA18983.hp2 NA18985.hp2 NA19000.hp1 NA19007.hp1 NA19082.hp1 NA20300.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0015 a0001c0001t0029 a0001c0001t0030 a0003c0004t0002	a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 others(35): Show a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0242 a0001c0001t0002g0286 a0001c0001t0003g0205 a0001c0001t0003g0210 a0001c0001t0003g0213 a0001c0001t0003g0232 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0005g0204 a0001c0001t0005g0212 a0001c0001t0005g0227 a0001c0001t0005g0241 a0001c0001t0011g0206 a0001c0001t0011g0207 a0001c0001t0011g0226 a0001c0001t0015g0225 a0001c0001t0029g0224 a0001c0001t0030g0326 a0003c0004t0002g0230	38	326	0.1166	-44	c.-2+ others(59): Show c.-2+1173_-2+1216delTTTATGTATATATTTATATATATTTATGTA TATATATTTATATA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C8orf33_chr8_145047467_145061030	145052285	CCGCCCCG others(37): Show CCGCCCCGCCCGCGCCCCGCCCGCGCCCCGCCCGCGCCCCGCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01074.hp2 HG04204.hp1 others(6): Show HG00733.hp2 HG01074.hp2 HG04204.hp1 NA18987.hp1 NA18999.hp1 NA18999.hp2 NA19070.hp1 NA19077.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0001 a0001c0001t0001g0003 a0001c0001t0002g0001	9	406	0.0222	-44	c.-20 others(53): Show c.-206_-163delCGCCCCGCCCGCGCCCCGCCCGCGCCCCGCCCGCGC CCCGCCCG	C8orf33	ENSG00000182307.14	transcript	ENST00000331434.7	protein_coding		181		chr8	TogoVar
CACNA1A_chr19_13201442_13511479	13346634	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0160 a0002c0002t0015g0160	1	218	0.0046	-44	c.979 others(63): Show c.979-10769_979-10726delAAAAAAAAAAAATATATATATATATA TATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497507	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18955.hp2 NA18948.hp2 NA18955.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0005c0102 a0002c0003 a0005c0102	a0002c0003t0003 a0005c0102t0003 a0002c0003t0003 a0005c0102t0003	a0002c0003t0003g0127 a0005c0102t0003g0122 a0002c0003t0003g0127 a0005c0102t0003g0122	2	218	0.0092	-44	c.293 others(61): Show c.293+8381_293+8424delATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497509	AAAAAAAA others(37): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG04228.hp2 NA18944.hp1 others(4): Show HG00544.hp1 HG04228.hp2 NA18944.hp1 NA18964.hp2 NA18975.hp1 NA19084.hp1 NA20905.hp2	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0005 a0008 a0028 a0030	a0002c0002 a0003c0046 a0004c0080 others(4): Show a0002c0002 a0003c0046 a0004c0080 a0005c0024 a0008c0008 a0028c0119 a0030c0062	a0002c0002t0002 a0003c0046t0003 a0004c0080t0009 others(4): Show a0002c0002t0002 a0003c0046t0003 a0004c0080t0009 a0005c0024t0006 a0008c0008t0002 a0028c0119t0026 a0030c0062t0002	a0002c0002t0002g0130 a0003c0046t0003g0116 a0004c0080t0009g0129 others(4): Show a0002c0002t0002g0130 a0003c0046t0003g0116 a0004c0080t0009g0129 a0005c0024t0006g0117 a0008c0008t0002g0125 a0028c0119t0026g0131 a0030c0062t0002g0124	7	218	0.0321	-44	c.293 others(61): Show c.293+8379_293+8422delATATATATATATATATATATATATATAT ATATTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497511	AAAAAAAA others(37): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0098 a0006c0011t0002g0098	1	218	0.0046	-44	c.293 others(61): Show c.293+8377_293+8420delATATATATATATATATATATATATATAT ATATATTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138118217	TGGGTGGG others(37): Show TGGGTGGGGGACGTGTGAGACTGGGGTGGGGGATGTGTGAGACCA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp2 HG02559.hp1 others(12): Show HG01884.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02647.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03579.hp2 NA18522.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0009 a0018	a0001c0002 a0001c0003 a0001c0017 others(6): Show a0001c0002 a0001c0003 a0001c0017 a0002c0010 a0004c0025 a0004c0055 a0005c0039 a0009c0021 a0018c0046	a0001c0002t0011 a0001c0002t0013 a0001c0003t0010 others(8): Show a0001c0002t0011 a0001c0002t0013 a0001c0003t0010 a0001c0017t0016 a0002c0010t0010 a0004c0025t0013 a0004c0025t0022 a0004c0055t0022 a0005c0039t0032 a0009c0021t0010 a0018c0046t0016	a0001c0002t0011g0052 a0001c0002t0013g0012 a0001c0002t0013g0128 others(12): Show a0001c0002t0011g0052 a0001c0002t0013g0012 a0001c0002t0013g0128 a0001c0003t0010g0131 a0001c0003t0010g0132 a0001c0003t0010g0134 a0001c0003t0010g0135 a0001c0017t0016g0119 a0002c0010t0010g0204 a0004c0025t0013g0217 a0004c0025t0022g0010 a0004c0055t0022g0009 a0005c0039t0032g0079 a0009c0021t0010g0004 a0018c0046t0016g0110	15	248	0.0605	-44	c.591 others(61): Show c.5913+176_5913+219delGACCAGGGTGGGGGACGTGTGAGACTGG GGTGGGGGATGTGTGA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	43/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2277350	GACAGACA others(37): Show GACAGACAGACAGACACACACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0033 a0001c0008t0033	a0001c0008t0033g0051 a0001c0008t0033g0051	1	104	0.0096	-44	c.477 others(65): Show c.477+156924_477+156967delGACAGACAGACACACACACACACA CACACACACACACACACACA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA2D3_chr3_54117552_55079557	54763814	TATATATA others(37): Show TATATATATACGTATATATATGTATATATATGTACATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0049 a0001c0035t0001g0049	1	118	0.0085	-44	c.124 others(61): Show c.1247-394_1247-351delCGTATATATATGTATATATATGTACATA TATATACATATATATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB4_chr2_151827771_152104044	151915982	TGGCTGGG others(37): Show TGGCTGGGGGGAGGGGGTTCCCCTGCCCCGTGTGGCTCTCAGCTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(41): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00609.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp2 HG01943.hp2 HG02015.hp2 HG02056.hp1 HG02083.hp1 HG02135.hp2 HG02148.hp2 HG02683.hp2 HG02735.hp1 HG03239.hp2 HG03491.hp1 HG03669.hp2 HG03710.hp2 HG04115.hp2 HG04204.hp2 NA18960.hp1 NA18982.hp1 NA18985.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19055.hp2 NA19065.hp1 NA19079.hp1 NA19082.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0022 a0001c0001t0039 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 others(41): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0190 a0001c0001t0001g0207 a0001c0001t0004g0189 a0001c0001t0009g0056 a0001c0001t0010g0136 a0001c0001t0013g0228 a0001c0001t0014g0028 a0001c0001t0014g0034 a0001c0001t0014g0116 a0001c0001t0020g0043 a0001c0001t0020g0048 a0001c0001t0022g0041 a0001c0001t0039g0205 a0001c0002t0002g0065 a0001c0002t0003g0022	44	230	0.1913	-44	c.148 others(63): Show c.148-32656_148-32613delCAGCTGAGAGCCACACGGGGCAGGGG AACCCCCTCCCCCCAGCC	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CADM2_chr3_84953989_86079429	85769148	CATATATA others(37): Show CATATATACATATATAGTATATATACACATATATACATATATAGT	C C	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0020 a0001c0001t0010g0020	1	146	0.0069	-44	c.89- others(61): Show c.89-32889_89-32846delTATATAGTATATATACACATATATACAT ATATAGTATATATACA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CALCRL_chr2_187336964_187453252	187341096	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02109.hp2 others(5): Show HG01884.hp2 HG01891.hp2 HG02109.hp2 HG02257.hp2 HG02970.hp1 HG03225.hp2 HG03486.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0017 a0002c0003t0007g0018 a0002c0003t0007g0019 others(5): Show a0002c0003t0007g0017 a0002c0003t0007g0018 a0002c0003t0007g0019 a0002c0003t0007g0020 a0002c0003t0007g0021 a0002c0003t0007g0022 a0002c0003t0007g0023 a0002c0003t0007g0024	8	344	0.0233	-44	c.50 others(55): Show c.5044_*5087delATATATATATATATATATATATATATATATATAT ATATATATAT	CALCRL	ENSG00000064989.13	transcript	ENST00000392370.8	protein_coding		867		chr2	TogoVar
CALN1_chr7_71774491_72417338	71798089	CAGAGAGA others(37): Show CAGAGAGAGAGACAGAGAGAGACAGAGACAGAGACAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	142	0.0070	-44	c.659 others(63): Show c.659-10231_659-10188delCTCTCTCTCTGTCTCTGTCTCTGTCT CTCTCTGTCTCTCTCTCT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	6/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72106689	CAAGGGAG others(37): Show CAAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01496.hp2 HG02523.hp1 others(5): Show HG01081.hp1 HG01496.hp2 HG02523.hp1 HG02630.hp2 HG02896.hp2 HG02897.hp1 HG03195.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 a0001c0001t0046 a0001c0001t0056	a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0003g0123 others(5): Show a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0003g0123 a0001c0001t0004g0066 a0001c0001t0004g0073 a0001c0001t0019g0070 a0001c0001t0046g0127 a0001c0001t0056g0137	8	142	0.0563	-44	c.245 others(59): Show c.245-439_245-396delCCTCCCTCCCTCCCTTCCTCCCTCCCTCCC TTCCTCCCTCCCTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALY_chr10_133319072_133341896	133334448	AGGGGGGA others(37): Show AGGGGGGAAGACTCTGAAGGGGAGGCTCTGAAGGGGAAGGACATG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03209.hp1 HG03540.hp2 HG02615.hp2 HG03209.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0082 a0001c0001t0009g0166 a0001c0001t0009g0167 a0001c0001t0009g0082 a0001c0001t0009g0166 a0001c0001t0009g0167	3	250	0.0120	-44	c.-21 others(61): Show c.-21+2342_-21+2385delCATGTCCTTCCCCTTCAGAGCCTCCCCT TCAGAGTCTTCCCCCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12401229	ATATATAT others(37): Show ATATATATTTTATATATATATAATATATGTATTATATATATTATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp1 others(45): Show HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00621.hp2 HG00735.hp1 HG01069.hp1 HG01074.hp1 HG01109.hp1 HG01168.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01433.hp1 HG01884.hp2 HG01928.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02074.hp2 HG02132.hp1 HG02273.hp2 HG02293.hp2 HG02523.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02965.hp1 HG02976.hp1 HG03491.hp1 HG03492.hp1 HG03831.hp2 HG03942.hp1 NA18612.hp2 NA18942.hp2 NA18953.hp1 NA18955.hp2 NA18971.hp1 NA18978.hp2 NA18983.hp2 NA18989.hp1 NA18999.hp1 NA19056.hp2 NA19057.hp2 NA19085.hp2 NA19091.hp1 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0042 a0001c0001t0049 a0001c0001t0058 a0001c0001t0059 a0001c0001t0069 a0001c0001t0070 a0001c0001t0076 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0089 a0001c0001t0090 a0001c0001t0097 a0001c0002t0004 a0001c0002t0015 a0001c0002t0016 a0001c0002t0021 a0001c0002t0025 a0001c0002t0053 a0001c0002t0063 a0001c0003t0007 a0001c0003t0022	a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0071 others(45): Show a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0133 a0001c0001t0001g0176 a0001c0001t0001g0191 a0001c0001t0002g0003 a0001c0001t0002g0193 a0001c0001t0002g0206 a0001c0001t0003g0012 a0001c0001t0003g0045 a0001c0001t0003g0195 a0001c0001t0004g0025 a0001c0001t0005g0189 a0001c0001t0006g0187 a0001c0001t0006g0194 a0001c0001t0007g0183 a0001c0001t0014g0147 a0001c0001t0017g0200 a0001c0001t0018g0090 a0001c0001t0018g0190 a0001c0001t0022g0070 a0001c0001t0030g0188 a0001c0001t0033g0185 a0001c0001t0034g0202 a0001c0001t0042g0085 a0001c0001t0049g0101 a0001c0001t0058g0093 a0001c0001t0059g0192 a0001c0001t0069g0044 a0001c0001t0070g0123 a0001c0001t0076g0128 a0001c0001t0078g0199 a0001c0001t0079g0151 a0001c0001t0080g0160 a0001c0001t0089g0035 a0001c0001t0090g0115 a0001c0001t0097g0065 a0001c0002t0004g0077 a0001c0002t0004g0091 a0001c0002t0015g0050 a0001c0002t0016g0186 a0001c0002t0021g0023 a0001c0002t0025g0029 a0001c0002t0053g0002 a0001c0002t0063g0201 a0001c0003t0007g0063 a0001c0003t0022g0024	48	214	0.2243	-44	c.92+ others(61): Show c.92+51391_92+51434delGTATTATATATATTATGTATATATTTTA TATATATATAATATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12694096	TATATAAT others(37): Show TATATAATATATAATATATATTATGCATAATATATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG06807.hp2 HG02965.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0085 a0001c0002t0027 a0001c0001t0085 a0001c0002t0027	a0001c0001t0085g0110 a0001c0002t0027g0116 a0001c0001t0085g0110 a0001c0002t0027g0116	2	214	0.0094	-44	c.299 others(63): Show c.299+27343_299+27386delATATATATTATGCATAATATATATTA TATATAATATAATATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKK1_chr17_3855315_3898053	3868233	TCTAACTG others(37): Show TCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0019 a0002c0001t0019	a0002c0001t0019g0013 a0002c0001t0019g0013	2	446	0.0045	-44	c.134 others(63): Show c.1341+1210_1341+1253delTTAGACGGCGCCTGCTTCTCCCCCAG AGCCCACGTATCAGTTAG	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKMT_chr2_44356947_44777592	44409080	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01934.hp2 NA19000.hp2 others(1): Show HG01099.hp1 HG01934.hp2 NA19000.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0145 others(1): Show a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0155	4	198	0.0202	-44	c.376 others(63): Show c.376+18834_376+18877delATATATATATATATATATATATATAT ATATATATATATATATAT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44673480	AGGAAGGA others(37): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03195.hp2 HG03041.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0106 a0001c0001t0001g0018 a0001c0001t0001g0106	2	198	0.0101	-44	c.377 others(63): Show c.377-30793_377-30750delGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAGGGAAGGAAG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CANT1_chr17_78986716_79014764	79004014	AGGGGAGT others(37): Show AGGGGAGTTAGGGAGAGGGGAGTTAGTGAGTGGGGAGTTAGGGAG	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0197 a0001c0002t0003g0197	1	394	0.0025	-44	c.-14 others(63): Show c.-147+5606_-147+5649delCTCCCTAACTCCCCACTCACTAACTC CCCTCTCCCTAACTCCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAPN14_chr2_31168056_31222515	31201141	GTGTGTGT others(37): Show GTGTGTGTGTGCATGTGCGTATGTGTGTGCGTGCATGTATGTGCA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01884.hp2 HG01993.hp2 others(13): Show HG01070.hp2 HG01884.hp2 HG01993.hp2 HG02155.hp1 HG02273.hp1 HG02293.hp2 HG02738.hp1 HG03098.hp2 HG03209.hp2 HG03516.hp1 HG03669.hp2 HG06807.hp2 NA19003.hp1 NA19056.hp2 NA19063.hp2 NA20805.hp2	a0001 a0006 a0009 others(3): Show a0001 a0006 a0009 a0014 a0015 a0021	a0001c0001 a0006c0007 a0009c0010 others(3): Show a0001c0001 a0006c0007 a0009c0010 a0014c0023 a0015c0024 a0021c0030	a0001c0001t0014 a0006c0007t0008 a0009c0010t0022 others(4): Show a0001c0001t0014 a0006c0007t0008 a0009c0010t0022 a0014c0023t0006 a0015c0024t0004 a0015c0024t0010 a0021c0030t0001	a0001c0001t0014g0090 a0006c0007t0008g0265 a0006c0007t0008g0266 others(13): Show a0001c0001t0014g0090 a0006c0007t0008g0265 a0006c0007t0008g0266 a0006c0007t0008g0267 a0006c0007t0008g0272 a0006c0007t0008g0273 a0006c0007t0008g0274 a0006c0007t0008g0275 a0006c0007t0008g0277 a0006c0007t0008g0278 a0009c0010t0022g0089 a0014c0023t0006g0268 a0014c0023t0006g0269 a0015c0024t0004g0270 a0015c0024t0010g0276 a0021c0030t0001g0271	16	326	0.0491	-44	c.552 others(59): Show c.552-560_552-517delTGCACATACATGCACGCACACACATACGCA CATGCACACACACA	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	5/21			chr2	TogoVar
CAPZA2_chr7_116857587_116927049	116890525	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	354	0.0028	-44	c.103 others(61): Show c.103+2337_103+2380delTATATATATATATATATATATATATATA TATATATATATATACA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116890555	TATATATA others(37): Show TATATATATATATACACATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0111 a0001c0001t0015g0111	1	354	0.0028	-44	c.103 others(61): Show c.103+2367_104-2394delTATATATATATACACATATATATATATA TATATATATATATACA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116890557	TATATATA others(37): Show TATATATATATACACATATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG02280.hp1 others(10): Show HG02055.hp2 HG02258.hp1 HG02280.hp1 HG02572.hp2 HG02622.hp1 HG02809.hp1 HG02896.hp1 HG02965.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp1 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0030 a0001c0002t0005 a0001c0002t0030	a0001c0002t0005g0002 a0001c0002t0005g0085 a0001c0002t0005g0086 others(9): Show a0001c0002t0005g0002 a0001c0002t0005g0085 a0001c0002t0005g0086 a0001c0002t0005g0088 a0001c0002t0005g0089 a0001c0002t0005g0090 a0001c0002t0005g0091 a0001c0002t0005g0092 a0001c0002t0005g0094 a0001c0002t0005g0096 a0001c0002t0005g0098 a0001c0002t0030g0097	13	354	0.0367	-44	c.103 others(61): Show c.103+2369_104-2392delTATATATATACACATATATATATATATA TATATATATATACACA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116890563	TATATACA others(37): Show TATATACACATATATATATATATATATATATATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG06807.hp1 NA20752.hp2 HG03239.hp1 HG06807.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0044 a0001c0002t0006 a0001c0002t0044	a0001c0002t0006g0013 a0001c0002t0006g0014 a0001c0002t0044g0017 a0001c0002t0006g0013 a0001c0002t0006g0014 a0001c0002t0044g0017	3	354	0.0085	-44	c.103 others(61): Show c.103+2375_104-2386delTATACACATATATATATATATATATATA TATATACACACACACA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116890567	TACACATA others(37): Show TACACATATATATATATATATATATATATATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01070.hp1 HG01071.hp2 others(21): Show HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01192.hp2 HG01256.hp2 HG02004.hp1 HG02071.hp1 HG02293.hp2 HG02683.hp1 HG03688.hp2 HG03834.hp1 HG04228.hp1 NA18955.hp1 NA18961.hp1 NA18968.hp2 NA18992.hp2 NA19001.hp2 NA19005.hp2 NA19011.hp2 NA19063.hp1 NA19066.hp2 NA19074.hp2 NA19075.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0010 a0001c0002t0004 a0001c0002t0010	a0001c0002t0004g0301 a0001c0002t0004g0302 a0001c0002t0004g0303 others(21): Show a0001c0002t0004g0301 a0001c0002t0004g0302 a0001c0002t0004g0303 a0001c0002t0004g0307 a0001c0002t0004g0309 a0001c0002t0004g0310 a0001c0002t0004g0311 a0001c0002t0004g0312 a0001c0002t0004g0313 a0001c0002t0004g0315 a0001c0002t0004g0316 a0001c0002t0004g0317 a0001c0002t0004g0318 a0001c0002t0004g0319 a0001c0002t0004g0320 a0001c0002t0004g0321 a0001c0002t0004g0322 a0001c0002t0004g0323 a0001c0002t0004g0324 a0001c0002t0004g0327 a0001c0002t0004g0330 a0001c0002t0010g0308 a0001c0002t0010g0314 a0001c0002t0010g0329	24	354	0.0678	-44	c.103 others(61): Show c.103+2381_104-2380delCATATATATATATATATATATATATATA CACACACACACACACA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116919593	CGGTGGCT others(37): Show CGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG03098.hp2 others(3): Show HG02630.hp2 HG02809.hp2 HG03098.hp2 HG03486.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0109 a0001c0001t0007g0112 a0001c0001t0007g0113 others(3): Show a0001c0001t0007g0109 a0001c0001t0007g0112 a0001c0001t0007g0113 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0270	6	354	0.0170	-44	c.17 others(55): Show c.1732_*1775delCTCACATCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGTGG	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	10/10	1732	INFO_REALIGN_3_PRIME	chr7	TogoVar
CASK_chrX_41509934_41928554	41829696	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG06807.hp2 HG01167.hp1 HG01169.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0024 a0001c0001t0007 a0001c0001t0024	a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0024g0003 a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0024g0003	3	164	0.0183	-44	c.172 others(63): Show c.172+23375_172+23418delATATATATATATATATATATATATAT ATATATATATATATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASP1_chr11_105020508_105040144	105033355	ATCTGCAA others(37): Show ATCTGCAATGTCTGCTTAGACAGGCATAAGCTTTCCCTAACCCTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0064 a0002c0003t0001g0064	1	398	0.0025	-44	c.275 others(59): Show c.275-273_275-230delAAGGGTTAGGGAAAGCTTATGCCTGTCTAA GCAGACATTGCAGA	CASP1	ENSG00000137752.25	transcript	ENST00000533400.6	protein_coding	2/8			chr11	TogoVar
CATSPERE_chr1_244456273_244645504	244582910	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp1 HG02647.hp2 others(1): Show HG02055.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0016 a0001c0002 a0001c0007 a0001c0016	a0001c0002t0001 a0001c0007t0001 a0001c0016t0001 a0001c0002t0001 a0001c0007t0001 a0001c0016t0001	a0001c0002t0001g0001 a0001c0002t0001g0029 a0001c0007t0001g0133 others(1): Show a0001c0002t0001g0001 a0001c0002t0001g0029 a0001c0007t0001g0133 a0001c0016t0001g0075	4	206	0.0194	-44	c.201 others(61): Show c.2010-930_2010-887delTATATATATATATATATATATATATATA TATATATATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERG_chr19_38330830_38375943	38344773	ATACATAT others(37): Show ATACATATATAGTACATACCTGTACATACATATATAGTACATACC	A A	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0126 a0003c0004t0001g0126	1	376	0.0027	-44	c.669 others(59): Show c.669+407_669+450delACATATATAGTACATACCTGTACATACATA TATAGTACATACCT	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CBFA2T2_chr20_33485096_33655030	33643753	CTATATAT others(37): Show CTATATATATATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0011 a0001c0001t0007g0011	1	298	0.0034	-44	c.148 others(61): Show c.1489-573_1489-530delTATATATATATATATATATATATATATA TATATATATATATATA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88932156	GCCCCTCA others(37): Show GCCCCTCACACGGCCCCTGCTTCCCCCTCACACGGCCCCCGCTTC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01346.hp2 HG02572.hp2 others(4): Show HG01167.hp2 HG01346.hp2 HG02572.hp2 HG02717.hp1 HG02896.hp2 HG02965.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0020	a0001c0001t0001 a0001c0002t0005 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0005 a0001c0003t0001 a0001c0020t0029	a0001c0001t0001g0013 a0001c0001t0001g0080 a0001c0001t0001g0119 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0080 a0001c0001t0001g0119 a0001c0002t0005g0005 a0001c0002t0005g0217 a0001c0003t0001g0085 a0001c0020t0029g0111	7	284	0.0247	-44	c.152 others(63): Show c.152-30544_152-30501delGAAGCGGGGGCCGTGTGAGGGGGAAG CAGGGGCCGTGTGAGGGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar

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Search Results (Total: 1890 hits)