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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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
CLPTM1L_chr5_1312752_1350099	1331590	T T	TGAGCCGT others(18): Show TGAGCCGTGCAGCCTCTGATGGTCCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	370	0.0027	25	c.976 others(40): Show c.976+184_976+208dupGGGACCATCAGAGGCTGCACGGCTC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	8/16			chr5	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0186 a0001c0001t0004g0186	1	408	0.0025	25	c.253 others(42): Show c.253+3142_253+3143insATATATATATATATATATATATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	408	0.0025	25	c.253 others(42): Show c.253+3142_253+3143insAAAAAAATATATATATATATATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLSTN1_chr1_9723926_9828965	9776862	T T	TTATCTAT others(18): Show TTATCTATCATCTATCAGCATTTATC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp1 HG02622.hp2 others(5): Show HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG03225.hp2 HG03453.hp2 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0108 a0001c0003t0004g0112 a0001c0003t0004g0116 others(5): Show a0001c0003t0004g0108 a0001c0003t0004g0112 a0001c0003t0004g0116 a0001c0003t0004g0117 a0001c0003t0004g0119 a0001c0003t0004g0120 a0001c0003t0004g0121 a0001c0003t0004g0122	8	270	0.0296	25	c.92- others(40): Show c.92-3469_92-3468insGATAAATGCTGATAGATGATAGATA	CLSTN1	ENSG00000171603.18	transcript	ENST00000377298.9	protein_coding	1/18			chr1	TogoVar
CLSTN2_chr3_139930185_140582397	140171791	A A	AATATATA others(18): Show AATATATATAATATGTATTATATAAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02615.hp1 HG03688.hp2 HG02257.hp1 HG02615.hp1 HG03688.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0010 a0001c0001 a0002c0002 a0002c0010	a0001c0001t0043 a0002c0002t0011 a0002c0010t0023 a0001c0001t0043 a0002c0002t0011 a0002c0010t0023	a0001c0001t0043g0064 a0002c0002t0011g0103 a0002c0010t0023g0081 a0001c0001t0043g0064 a0002c0002t0011g0103 a0002c0010t0023g0081	3	110	0.0273	25	c.110 others(42): Show c.110-4153_110-4152insTAATATGTATTATATAATATATATA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140251584	G G	GTTCCTTT others(18): Show GTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02145.hp2 HG02572.hp1 others(9): Show HG01433.hp2 HG02145.hp2 HG02572.hp1 HG02809.hp1 HG02809.hp2 HG02965.hp2 HG02970.hp1 HG03139.hp2 HG03516.hp1 HG06807.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0006 a0001c0008 others(3): Show a0001c0001 a0001c0006 a0001c0008 a0002c0002 a0002c0005 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0006t0004 a0001c0008t0009 a0002c0002t0002 a0002c0002t0033 a0002c0002t0044 a0002c0005t0004 a0005c0011t0002	a0001c0001t0001g0056 a0001c0001t0002g0105 a0001c0001t0005g0026 others(9): Show a0001c0001t0001g0056 a0001c0001t0002g0105 a0001c0001t0005g0026 a0001c0006t0004g0098 a0001c0008t0009g0100 a0002c0002t0002g0054 a0002c0002t0002g0086 a0002c0002t0033g0008 a0002c0002t0044g0096 a0002c0005t0004g0038 a0002c0005t0004g0077 a0005c0011t0002g0087	12	110	0.1091	25	c.232 others(44): Show c.232+75542_232+75566dupTTCCTTTCCTTTCCTTTCCTTTCCT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140501400	C C	CTAGATGC others(18): Show CTAGATGCAGGAAGGAGGGGCACCCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03486.hp1 HG02257.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0023 a0001c0009 a0002c0023	a0001c0009t0018 a0002c0023t0010 a0001c0009t0018 a0002c0023t0010	a0001c0009t0018g0018 a0002c0023t0010g0104 a0001c0009t0018g0018 a0002c0023t0010g0104	2	110	0.0182	25	c.134 others(46): Show c.1345-30922_1345-30898dupAGATGCAGGAAGGAGGGGCACCCT T	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLTCL1_chr22_19174473_19296719	19212575	A A	AAGAAGAG others(18): Show AAGAAGAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG01106.hp2 others(16): Show HG00733.hp2 HG00735.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG02559.hp1 HG03471.hp1 NA18951.hp2 NA18955.hp1 NA18970.hp1 NA18985.hp2 NA18989.hp1 NA19056.hp1 NA19088.hp2 NA20752.hp1	a0004 a0008 a0017 a0004 a0008 a0017	a0004c0006 a0004c0017 a0008c0010 others(1): Show a0004c0006 a0004c0017 a0008c0010 a0017c0031	a0004c0006t0005 a0004c0017t0005 a0008c0010t0005 others(1): Show a0004c0006t0005 a0004c0017t0005 a0008c0010t0005 a0017c0031t0007	a0004c0006t0005g0010 a0004c0006t0005g0011 a0004c0006t0005g0012 others(16): Show a0004c0006t0005g0010 a0004c0006t0005g0011 a0004c0006t0005g0012 a0004c0006t0005g0013 a0004c0006t0005g0014 a0004c0006t0005g0015 a0004c0006t0005g0016 a0004c0006t0005g0017 a0004c0006t0005g0018 a0004c0006t0005g0022 a0004c0006t0005g0023 a0004c0006t0005g0024 a0004c0006t0005g0026 a0004c0017t0005g0025 a0008c0010t0005g0009 a0008c0010t0005g0019 a0008c0010t0005g0020 a0008c0010t0005g0021 a0017c0031t0007g0099	19	346	0.0549	25	c.306 others(44): Show c.3066-2067_3066-2066insCTTTCTTTCTTTCTTTCTCTCTTCT	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	19/32			chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19266104	A A	AACTTCTG others(18): Show AACTTCTGGTCCCAAGTGATCCTGTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00597.hp2 others(33): Show HG00140.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG01346.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01952.hp2 HG02148.hp2 HG02165.hp1 HG02735.hp1 HG03491.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 NA18943.hp1 NA18946.hp2 NA18954.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp2 NA18968.hp1 NA18983.hp2 NA18993.hp2 NA18999.hp1 NA19009.hp2 NA19057.hp1 NA19058.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19081.hp1 NA19089.hp1 NA19090.hp2 NA20300.hp2	a0001 a0009 a0014 others(1): Show a0001 a0009 a0014 a0021	a0001c0003 a0001c0027 a0009c0012 others(2): Show a0001c0003 a0001c0027 a0009c0012 a0014c0011 a0021c0025	a0001c0003t0001 a0001c0003t0003 a0001c0027t0001 others(3): Show a0001c0003t0001 a0001c0003t0003 a0001c0027t0001 a0009c0012t0001 a0014c0011t0001 a0021c0025t0001	a0001c0003t0001g0149 a0001c0003t0001g0151 a0001c0003t0001g0152 others(33): Show a0001c0003t0001g0149 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0003t0001g0177 a0001c0003t0001g0179 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0003g0034 a0001c0027t0001g0167 a0009c0012t0001g0178 a0014c0011t0001g0166 a0014c0011t0001g0176 a0021c0025t0001g0156	36	346	0.1041	25	c.250 others(42): Show c.250+9494_250+9518dupGACAGGATCACTTGGGACCAGAAGT	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	2/32			chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19291846	G G	GCCCCCGC others(18): Show GCCCCCGCCCCTGCCCCCGCCGCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG03195.hp1 HG02615.hp2 HG02723.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0008 a0001c0003t0001 a0001c0003t0008 a0001c0002t0008 a0001c0003t0001 a0001c0003t0008	a0001c0002t0008g0336 a0001c0003t0001g0318 a0001c0003t0008g0329 a0001c0002t0008g0336 a0001c0003t0001g0318 a0001c0003t0008g0329	3	346	0.0087	25	c.-20 others(34): Show c.-206_-205insGCAGCGGCGGGGGCAGGGGCGGGGG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding		128		chr22	TogoVar
CLUAP1_chr16_3496004_3544048	3529451	T T	TTATATAT others(18): Show TTATATATAATATATATTATATTATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01106.hp2 HG01167.hp1 others(7): Show HG00438.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01433.hp2 HG02735.hp1 HG03654.hp2 HG03927.hp1 HG04228.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0002 a0002c0010t0002 a0002c0002t0002 a0002c0010t0002	a0002c0002t0002g0009 a0002c0002t0002g0275 a0002c0002t0002g0289 others(5): Show a0002c0002t0002g0009 a0002c0002t0002g0275 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0294 a0002c0002t0002g0300 a0002c0002t0002g0304 a0002c0010t0002g0288	10	382	0.0262	25	c.929 others(42): Show c.929-1114_929-1113insATATAATATATATTATATTATATAT	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLUL1_chr18_591988_655182	627023	G G	GAGAAAAG others(18): Show GAGAAAAGAAGAAAGAGAAACAAAGA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	414	0.0024	25	c.424 others(38): Show c.424-73_424-72insGAAAAGAAGAAAGAGAAACAAAGAA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLUL1_chr18_591988_655182	627023	G G	GAGAAAAG others(18): Show GAGAAAAGAAGAAAGAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02717.hp1 NA19070.hp1 others(1): Show HG01981.hp2 HG02717.hp1 NA19070.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0082 a0001c0001t0001g0154 a0001c0001t0001g0211 others(1): Show a0001c0001t0001g0082 a0001c0001t0001g0154 a0001c0001t0001g0211 a0001c0001t0004g0137	4	414	0.0097	25	c.424 others(38): Show c.424-73_424-72insGAAAAGAAGAAAGAGAAAGAAAGAA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLU_chr8_27591917_27619700	27593372	A A	AGTTACGT others(18): Show AGTTACGTTACGTTACGTTACGTTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 NA18941.hp1 NA18970.hp2 HG02071.hp1 NA18941.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0036 a0001c0001t0002g0091 a0001c0001t0006g0010 a0001c0001t0002g0036 a0001c0001t0002g0091 a0001c0001t0006g0010	3	458	0.0066	25	c.48 others(36): Show c.4868_*4869insGTAACGTAACGTAACGTAACGTAAC	CLU	ENSG00000120885.22	transcript	ENST00000316403.15	protein_coding		3544		chr8	TogoVar
CLU_chr8_27591917_27619700	27593398	G G	GTTACGTT others(18): Show GTTACGTTACGTTACGTTACGTTACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	458	0.0022	25	c.48 others(36): Show c.4842_*4843insGGTAACGTAACGTAACGTAACGTAA	CLU	ENSG00000120885.22	transcript	ENST00000316403.15	protein_coding		3518		chr8	TogoVar
CLVS1_chr8_61282970_61506629	61357494	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	184	0.0054	25	c.456 others(44): Show c.456-19107_456-19083dupTTTTTTTTTTTTTTTTTTTTTTTTT	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLVS2_chr6_122991235_123077925	123002586	T T	TAATAAAA others(18): Show TAATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01975.hp1 HG00741.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0194 a0001c0001t0002g0195	2	336	0.0060	25	c.389 others(42): Show c.389+4429_389+4453dupAAAATAAAATAAAATAAAATAAAAT	CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
CLVS2_chr6_122991235_123077925	123040769	A A	AAAAAGAA others(18): Show AAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18990.hp2 HG00741.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0195 a0001c0001t0012g0056 a0001c0001t0002g0195 a0001c0001t0012g0056	2	336	0.0060	25	c.565 others(42): Show c.565-7840_565-7816dupAAGAAAAGAAAAGAAAAGAAAAGAA	CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
CLVS2_chr6_122991235_123077925	123048026	T T	TCCTTAAG others(18): Show TCCTTAAGTTTCTTACAGTACAACTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0141 a0001c0001t0004g0141	1	336	0.0030	25	c.565 others(40): Show c.565-595_565-571dupCCTTAAGTTTCTTACAGTACAACTC	CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
CLYBL_chr13_99601690_99897570	99797560	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	218	0.0046	25	c.249 others(44): Show c.249+24550_249+24551insGTGTGTGTGTGTGTGTGTGTGTGTG	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8			chr13	TogoVar
CLYBL_chr13_99601690_99897570	99797591	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0094 a0004c0004t0001g0094	1	218	0.0046	25	c.249 others(44): Show c.249+24581_249+24582insGTGTGTGTGTGTGTGTGTGTGTGTG	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8			chr13	TogoVar
CLYBL_chr13_99601690_99897570	99833030	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	218	0.0046	25	c.250 others(44): Show c.250-25830_250-25829insATATATATATATATATATATATATT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CMC2_chr16_80961448_81011885	80965194	A A	ATATATAT others(18): Show ATATATATATGCATATATATATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01975.hp1 others(1): Show HG01069.hp1 HG01071.hp2 HG01975.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0026 a0001c0001t0151 a0001c0001t0008 a0001c0001t0026 a0001c0001t0151	a0001c0001t0008g0035 a0001c0001t0026g0181 a0001c0001t0151g0182 a0001c0001t0008g0035 a0001c0001t0026g0181 a0001c0001t0151g0182	4	408	0.0098	25	c.10 others(38): Show c.10898_*10899insACATATATATATATGCATATATATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1253		chr16	TogoVar
CMIP_chr16_81439808_81716762	81520569	G G	GGGAGAGA others(18): Show GGGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	268	0.0037	25	c.300 others(44): Show c.300+75029_300+75030insGAGAGAGAGAGAGAGAGAGAGAGAG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81598968	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	268	0.0037	25	c.301 others(42): Show c.301-8577_301-8576insAAAAAAAAAAAAAAAAAAAAAAAAA	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81668855	G G	GCCTTCCA others(18): Show GCCTTCCACACCCACCTCACACTAGC	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0157 a0001c0001t0021g0157	1	268	0.0037	25	c.826 others(42): Show c.826-1265_826-1264insAGCCCTTCCACACCCACCTCACACT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMKLR2_chr2_206170316_206218371	206172823	C C	CGGGAGAG others(18): Show CGGGAGAGGGAGAGGGAGACGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0085 a0004c0006t0001g0085	1	322	0.0031	25	c.33 others(36): Show c.3356_*3357insTCTCCCGTCTCCCTCTCCCTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2492		chr2	TogoVar
CMSS1_chr3_99812862_100186732	100031994	C C	CTAATTTT others(18): Show CTAATTTTTAATTTTTTTTTTTAATT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19066.hp2 NA18959.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0085 a0001c0001t0004g0019 a0001c0001t0002g0085 a0001c0001t0004g0019	2	232	0.0086	25	c.65- others(44): Show c.65-114963_65-114962insTTTTTAATTTAATTTTTAATTTTTT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM2_chr16_66574463_66593275	66589828	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 NA19002.hp2 HG02027.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	2	410	0.0049	25	c.17 others(36): Show c.1709_*1710insAAAAAAAAAAAAAAAAAAAAAAAAA	CMTM2	ENSG00000140932.10	transcript	ENST00000268595.3	protein_coding		1554		chr16	TogoVar
CMTM8_chr3_32233680_32375321	32295455	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	344	0.0029	25	c.147 others(44): Show c.147+56359_147+56360insAAAAAAAAAAAAAAAAAAAAAAAAA	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01361.hp2 HG01928.hp2 others(6): Show HG01074.hp1 HG01361.hp2 HG01928.hp2 HG01978.hp1 HG01981.hp2 HG02293.hp2 HG03239.hp1 NA18966.hp1 NA18998.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0004c0005t0001 a0001c0001t0001 a0001c0001t0002 a0004c0005t0001	a0001c0001t0001g0006 a0001c0001t0001g0047 a0001c0001t0001g0118 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0047 a0001c0001t0001g0118 a0001c0001t0001g0131 a0001c0001t0001g0144 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0270 a0004c0005t0001g0007	9	344	0.0262	25	c.148 others(44): Show c.148-38298_148-38297insATATATATATATATATATTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA18977.hp1 NA18977.hp2 HG01070.hp2 NA18977.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0245 a0001c0001t0002g0200 a0001c0001t0002g0273 a0001c0001t0001g0245 a0001c0001t0002g0200 a0001c0001t0002g0273	3	344	0.0087	25	c.148 others(44): Show c.148-38298_148-38297insATATATATATATATATTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	344	0.0029	25	c.148 others(44): Show c.148-38298_148-38297insATATATATATATATTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTR1_chr6_37428221_37486508	37449271	T T	TTGTTATG others(18): Show TTGTTATGTTATGTTATGTTATGTTA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02572.hp2 HG01071.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0181 a0001c0001t0002g0210 a0001c0001t0001g0181 a0001c0001t0002g0210	2	358	0.0056	25	c.445 others(40): Show c.445-958_445-934dupGTTATGTTATGTTATGTTATGTTAT	CMTR1	ENSG00000137200.13	transcript	ENST00000373451.9	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
CMYA5_chr5_79684836_79805222	79688942	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0023 a0023	a0023c0022 a0023c0022	a0023c0022t0008 a0023c0022t0008	a0023c0022t0008g0016 a0023c0022t0008g0016	1	358	0.0028	25	c.-96 others(34): Show c.-966_-965insAAAAAAAAAAAAAAAAAAAAAAAAA	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding		893		chr5	TogoVar
CNBD1_chr8_86861415_87387859	87129069	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	152	0.0066	25	c.432 others(44): Show c.432-76902_432-76901insAAAAAAAAAAAAAAAAAAAAAAAAA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBP_chr3_129162827_129188896	129181649	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0368 a0001c0002t0010g0368	1	430	0.0023	25	c.-15 others(42): Show c.-15+2126_-15+2127insTTTTTTTTTTTTTTTTTTTTTTTTT	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNGA3_chr2_98341456_98403601	98367167	G G	GTTTATTT others(18): Show GTTTATTTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	338	0.0030	25	c.-37 others(42): Show c.-37-2769_-37-2768insATTTTCTTTTTTTTTTTTTTTTTTT	CNGA3	ENSG00000144191.12	transcript	ENST00000272602.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNGA4_chr11_6234089_6249479	6247043	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG02145.hp1 HG04204.hp1 others(1): Show HG01346.hp1 HG02145.hp1 HG04204.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	4	412	0.0097	25	c.26 others(36): Show c.2634_*2635insAAAAAAAAAAAAAAAAAAAAAAAAA	CNGA4	ENSG00000132259.13	transcript	ENST00000379936.3	protein_coding		2565		chr11	TogoVar
CNGB1_chr16_57877340_57976128	57879787	T T	TTCTTTCT others(18): Show TTCTTTCTTTCTTTTTCTTTCTTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG01256.hp2 others(1): Show HG00280.hp1 HG00280.hp2 HG01256.hp2 HG03710.hp2	a0001 a0008 a0034 a0001 a0008 a0034	a0001c0003 a0008c0032 a0034c0095 a0001c0003 a0008c0032 a0034c0095	a0001c0003t0001 a0008c0032t0006 a0034c0095t0001 a0001c0003t0001 a0008c0032t0006 a0034c0095t0001	a0001c0003t0001g0214 a0001c0003t0001g0253 a0008c0032t0006g0221 others(1): Show a0001c0003t0001g0214 a0001c0003t0001g0253 a0008c0032t0006g0221 a0034c0095t0001g0193	4	360	0.0111	25	c.43 others(36): Show c.4376_*4377insGGAAAGAAAGAAAAAGAAAGAAAGA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2552		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879787	T T	TTCTTTCT others(18): Show TTCTTTCTTTTTCTTTCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00735.hp2 others(2): Show HG00408.hp2 HG00423.hp2 HG00735.hp2 NA18960.hp1 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 others(1): Show a0001c0001 a0001c0003 a0002c0005 a0002c0006	a0001c0001t0001 a0001c0001t0037 a0001c0003t0006 others(2): Show a0001c0001t0001 a0001c0001t0037 a0001c0003t0006 a0002c0005t0001 a0002c0006t0006	a0001c0001t0001g0236 a0001c0001t0037g0246 a0001c0003t0006g0284 others(2): Show a0001c0001t0001g0236 a0001c0001t0037g0246 a0001c0003t0006g0284 a0002c0005t0001g0014 a0002c0006t0006g0323	5	360	0.0139	25	c.43 others(36): Show c.4376_*4377insGAAAGGAAAGAAAGAAAAAGAAAGA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2552		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879827	T T	TCCTTCCT others(18): Show TCCTTCCTTCCTTCCTTCCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0070 a0001c0070	a0001c0070t0007 a0001c0070t0007	a0001c0070t0007g0134 a0001c0070t0007g0134	1	360	0.0028	25	c.43 others(36): Show c.4336_*4337insGAAGGAAGGAAGGAAGGAAGGAAGG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2512		chr16	TogoVar
CNKSR2_chrX_21369418_21659689	21495783	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0020	1	163	0.0061	25	c.682 others(42): Show c.682-1989_682-1965dupAAAAAAAAAAAAAAAAAAAAAAAAA	CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding	6/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNKSR3_chr6_154382515_154515685	154415228	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02683.hp1 HG03017.hp2 others(4): Show HG02602.hp1 HG02683.hp1 HG03017.hp2 HG03490.hp1 NA18951.hp2 NA18970.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0004 a0001c0001t0024 a0001c0001t0027 others(4): Show a0001c0001t0004 a0001c0001t0024 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0061 a0001c0010t0003	a0001c0001t0004g0128 a0001c0001t0024g0013 a0001c0001t0027g0293 others(4): Show a0001c0001t0004g0128 a0001c0001t0024g0013 a0001c0001t0027g0293 a0001c0002t0001g0229 a0001c0002t0002g0111 a0001c0002t0061g0034 a0001c0010t0003g0319	7	342	0.0205	25	c.946 others(40): Show c.946-806_946-805insAAAAAAAAAAAAAAAAAAAAAAAAA	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	9/12			chr6	TogoVar
CNN2_chr19_1021608_1044065	1025180	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA19065.hp1 NA18969.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0008 a0001c0001t0001 a0001c0005t0008	a0001c0001t0001g0047 a0001c0005t0008g0012 a0001c0001t0001g0047 a0001c0005t0008g0012	2	390	0.0051	25	c.-14 others(36): Show c.-1482_-1481insAAAATAAAATAAAATAAAATAAAAT	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding		1427		chr19	TogoVar
CNNM1_chr10_99324356_99399330	99347599	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18995.hp2 NA19070.hp1 HG02698.hp2 NA18995.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009	a0001c0001t0003g0098 a0001c0001t0005g0198 a0001c0001t0009g0099 a0001c0001t0003g0098 a0001c0001t0005g0198 a0001c0001t0009g0099	3	320	0.0094	25	c.157 others(44): Show c.1574-9913_1574-9912insCACACACACACACACACACACACAC	CNNM1	ENSG00000119946.12	transcript	ENST00000356713.5	protein_coding	1/10			chr10	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	354	0.0028	25	c.159 others(44): Show c.1596-4968_1596-4967insAAAAAAATATATATATATATATATA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT1_chr16_58514951_58634826	58516124	T T	TGGGGCGG others(18): Show TGGGGCGGGGCGGGGCGGGGCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	308	0.0033	25	c.48 others(36): Show c.4809_*4833dupGCCCCGCCCCGCCCCGCCCCGCCCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding		3826		chr16	TogoVar
CNOT1_chr16_58514951_58634826	58516148	G G	GCGGGGCG others(18): Show GCGGGGCGGGGCGGGGCGGGGCGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG03704.hp1 HG01168.hp2 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0009 a0001c0007 a0002c0009	a0001c0007t0001 a0002c0009t0001 a0001c0007t0001 a0002c0009t0001	a0001c0007t0001g0103 a0002c0009t0001g0123 a0001c0007t0001g0103 a0002c0009t0001g0123	2	308	0.0065	25	c.48 others(36): Show c.4809_*4810insAACCGCCCCGCCCCGCCCCGCCCCG	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding		3802		chr16	TogoVar
CNOT2_chr12_70238433_70359993	70265271	G G	GTCTCTTC others(18): Show GTCTCTTCTCTTCTCTTCTCTTCTCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	280	0.0036	25	c.-95 others(44): Show c.-95-12860_-95-12859insCTCTTCTCTTCTCTTCTCTTCTCTT	CNOT2	ENSG00000111596.14	transcript	ENST00000229195.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar

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