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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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CHRNE_chr17_4892771_4908098	4903019	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01109.hp2 HG01168.hp2 HG01169.hp2 others(10): Show HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01891.hp2 HG02258.hp2 HG02922.hp1 HG03139.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0046 a0001c0004t0011 a0001c0004t0046	a0001c0004t0011g0007 a0001c0004t0046g0117 a0001c0004t0011g0007 a0001c0004t0046g0117	13	446	0.0292	0	c.45C others(2): Show c.45C>T	p.Leu others(5): Show p.Leu15Leu	CHRNE	ENSG00000108556.10	transcript	ENST00000649488.2	protein_coding	1/12	80/2482	45/1482	15/493			chr17	TogoVar
CHRNG_chr2_232534692_232553115	232540374	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18962.hp2 NA18977.hp1 NA18962.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0034 a0001c0001t0006g0034	2	434	0.0046	0	c.196 others(5): Show c.196-7C>A		CHRNG	ENSG00000196811.13	transcript	ENST00000651502.1	protein_coding	2/11						chr2	TogoVar
CHRNG_chr2_232534692_232553115	232542875	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0092 a0001c0002t0003g0092	1	434	0.0023	0	c.605 others(5): Show c.605-7C>T		CHRNG	ENSG00000196811.13	transcript	ENST00000651502.1	protein_coding	6/11						chr2	TogoVar
CHST10_chr2_100386860_100422668	100397901	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(119): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp2 HG03239.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19005.hp1 NA19006.hp2 NA19057.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0001c0016	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(9): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0024 a0001c0004t0002 a0001c0004t0025 a0001c0006t0002 a0001c0016t0002	a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0020 others(56): Show a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0006g0012 a0001c0001t0006g0069 a0001c0001t0006g0096 a0001c0001t0008g0014 a0001c0001t0008g0124 a0001c0001t0008g0140 a0001c0001t0008g0144 a0001c0001t0008g0157 a0001c0001t0011g0046 a0001c0001t0012g0128 a0001c0001t0012g0129 a0001c0001t0013g0049 a0001c0001t0017g0050 a0001c0001t0024g0149 a0001c0004t0002g0010 a0001c0004t0002g0137 a0001c0004t0025g0165 a0001c0006t0002g0013 a0001c0016t0002g0150	122	364	0.3352	0	c.427 others(5): Show c.427+7G>A		CHST10	ENSG00000115526.11	transcript	ENST00000264249.8	protein_coding	5/6						chr2	TogoVar
CHST10_chr2_100386860_100422668	100402655	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03540.hp2 HG03540.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0028 a0005c0013t0028	a0005c0013t0028g0078 a0005c0013t0028g0078	1	364	0.0028	0	c.101 others(3): Show c.101T>C	p.Val others(5): Show p.Val34Ala	CHST10	ENSG00000115526.11	transcript	ENST00000264249.8	protein_coding	4/7	499/2854	101/1071	34/356			chr2	TogoVar
CHST10_chr2_100386860_100422668	100417374	C C	G G	splice_region_variant splice_region_variant	LOW	HG02257.hp1 HG02717.hp1 HG02922.hp2 HG02257.hp1 HG02717.hp1 HG02922.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0010 a0002c0005t0022 a0002c0005t0010 a0002c0005t0022	a0002c0005t0010g0055 a0002c0005t0010g0057 a0002c0005t0022g0056 a0002c0005t0010g0055 a0002c0005t0010g0057 a0002c0005t0022g0056	3	364	0.0082	0	c.-10 others(4): Show c.-104G>C		CHST10	ENSG00000115526.11	transcript	ENST00000264249.8	protein_coding	1/7						chr2	TogoVar
CHST12_chr7_2398611_2453484	2403653	GCGCGAGG others(7): Show GCGCGAGGTGAGGGT	G G	splice_donor_variant others(3): Show splice_donor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG01106.hp1 HG02015.hp1 HG02647.hp1 others(5): Show HG01106.hp1 HG02015.hp1 HG02647.hp1 HG02698.hp1 HG03710.hp2 HG03942.hp2 NA19043.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0290 a0001c0001t0291 a0001c0001t0292 others(5): Show a0001c0001t0290 a0001c0001t0291 a0001c0001t0292 a0001c0001t0293 a0001c0001t0294 a0001c0001t0295 a0001c0001t0296 a0001c0001t0297	a0001c0001t0290g0132 a0001c0001t0291g0220 a0001c0001t0292g0217 others(5): Show a0001c0001t0290g0132 a0001c0001t0291g0220 a0001c0001t0292g0217 a0001c0001t0293g0109 a0001c0001t0294g0134 a0001c0001t0295g0136 a0001c0001t0296g0147 a0001c0001t0297g0052	8	344	0.0233	-14	c.-84 others(23): Show c.-84_-78+7delTCGCGAGGTGAGGG		CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding	1/2				28960	INFO_REALIGN_3_PRIME	chr7	TogoVar
CHST15_chr10_124002668_124098598	124042293	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp1 HG00639.hp2 HG00642.hp1 others(125): Show HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18952.hp2 NA18955.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18979.hp1 NA18985.hp1 NA18986.hp2 NA18989.hp2 NA18999.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19065.hp2 NA19070.hp1 NA19079.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0012 a0001c0013 a0001c0015 a0001c0019 a0002c0005 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0019 a0001c0001t0028 a0001c0001t0032 a0001c0001t0037 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0017 a0001c0003t0033 a0001c0003t0038 a0001c0004t0007 a0001c0012t0031 a0001c0013t0014 a0001c0013t0015 a0001c0015t0001 a0001c0019t0030 a0002c0005t0004 a0002c0005t0034 a0002c0005t0035 a0002c0005t0039 a0004c0010t0003 a0004c0010t0006	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0048 others(121): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0265 a0001c0001t0001g0368 a0001c0001t0002g0003 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0030 a0001c0001t0002g0038 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0103 a0001c0001t0002g0109 a0001c0001t0002g0145 a0001c0001t0002g0192 a0001c0001t0002g0214 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0003g0008 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0046 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0074 a0001c0001t0003g0086 a0001c0001t0003g0203 a0001c0001t0003g0228 a0001c0001t0004g0043 a0001c0001t0004g0070 a0001c0001t0004g0200 a0001c0001t0004g0217 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0241 a0001c0001t0004g0244 a0001c0001t0005g0044 a0001c0001t0005g0057 a0001c0001t0005g0076 a0001c0001t0006g0059 a0001c0001t0006g0211 a0001c0001t0006g0240 a0001c0001t0008g0029 a0001c0001t0010g0025 a0001c0001t0012g0056 a0001c0001t0013g0215 a0001c0001t0016g0019 a0001c0001t0016g0039 a0001c0001t0019g0193 a0001c0001t0028g0238 a0001c0001t0032g0175 a0001c0001t0037g0374 a0001c0002t0001g0360 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0224 a0001c0003t0002g0054 a0001c0003t0002g0173 a0001c0003t0002g0219 a0001c0003t0017g0115 a0001c0003t0017g0116 a0001c0003t0033g0117 a0001c0003t0038g0375 a0001c0004t0007g0051 a0001c0012t0031g0100 a0001c0013t0014g0107 a0001c0013t0015g0023 a0001c0015t0001g0092 a0001c0019t0030g0022 a0002c0005t0004g0112 a0002c0005t0034g0377 a0002c0005t0035g0378 a0002c0005t0039g0376 a0004c0010t0003g0093 a0004c0010t0006g0094	128	392	0.3265	0	c.103 others(6): Show c.1033+8G>T		CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	4/7						chr10	TogoVar
CHST1_chr11_45642689_45670622	45665175	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0036 a0001c0002t0021g0036	1	386	0.0026	0	c.-22 others(6): Show c.-227+3A>C		CHST1	ENSG00000175264.8	transcript	ENST00000308064.7	protein_coding	1/3						chr11	TogoVar
CHST1_chr11_45642689_45670622	45665179	T T	G G	splice_region_variant splice_region_variant	LOW	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0036 a0001c0002t0021g0036	1	386	0.0026	0	c.-22 others(4): Show c.-228A>C		CHST1	ENSG00000175264.8	transcript	ENST00000308064.7	protein_coding	1/4						chr11	TogoVar
CHST5_chr16_75523530_75541108	75533085	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp2 HG02723.hp2 HG01106.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0069 a0001c0003t0005g0070 a0001c0003t0005g0069 a0001c0003t0005g0070	2	394	0.0051	0	c.-12 others(7): Show c.-1257+4A>T		CHST5	ENSG00000135702.15	transcript	ENST00000336257.8	protein_coding	3/3						chr16	TogoVar
CHST8_chr19_33616953_33778506	33689171	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp2 HG02647.hp2 HG03130.hp1 others(2): Show HG02258.hp2 HG02647.hp2 HG03130.hp1 HG03471.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0031 a0001c0001t0001g0171 a0001c0001t0001g0204 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0171 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0003t0003g0234	5	254	0.0197	0	c.-86 others(5): Show c.-86-5C>T		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	2/4						chr19	TogoVar
CHTF18_chr16_783620_803074	790267	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01243.hp1 HG02717.hp1 HG02970.hp1 others(1): Show HG01243.hp1 HG02717.hp1 HG02970.hp1 HG03041.hp1	a0020 a0051 a0020 a0051	a0020c0018 a0051c0045 a0020c0018 a0051c0045	a0020c0018t0001 a0051c0045t0001 a0020c0018t0001 a0051c0045t0001	a0020c0018t0001g0083 a0020c0018t0001g0084 a0020c0018t0001g0085 others(1): Show a0020c0018t0001g0083 a0020c0018t0001g0084 a0020c0018t0001g0085 a0051c0045t0001g0082	4	428	0.0094	0	c.697 others(3): Show c.697G>A	p.Glu others(6): Show p.Glu233Lys	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	5/22	762/3092	697/2928	233/975			chr16	TogoVar
CHTF18_chr16_783620_803074	793067	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG01123.hp2 HG02083.hp1 HG00423.hp1 HG01123.hp2 HG02083.hp1	a0014 a0014	a0014c0029 a0014c0029	a0014c0029t0001 a0014c0029t0001	a0014c0029t0001g0197 a0014c0029t0001g0198 a0014c0029t0001g0199 a0014c0029t0001g0197 a0014c0029t0001g0198 a0014c0029t0001g0199	3	428	0.0070	0	c.167 others(6): Show c.1671+3G>A		CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	13/21						chr16	TogoVar
CHTF18_chr16_783620_803074	795832	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03492.hp2 HG03492.hp2	a0050 a0050	a0050c0047 a0050c0047	a0050c0047t0002 a0050c0047t0002	a0050c0047t0002g0250 a0050c0047t0002g0250	1	428	0.0023	0	c.232 others(4): Show c.2323C>T	p.Pro others(6): Show p.Pro775Ser	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	17/22	2388/3092	2323/2928	775/975			chr16	TogoVar
CHTF18_chr16_783620_803074	795943	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0126 a0001c0009t0001g0126	1	428	0.0023	0	c.232 others(6): Show c.2326-4C>G		CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	17/21						chr16	TogoVar
CHTF18_chr16_783620_803074	796084	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG01123.hp2 HG02083.hp1 HG00423.hp1 HG01123.hp2 HG02083.hp1	a0014 a0014	a0014c0029 a0014c0029	a0014c0029t0001 a0014c0029t0001	a0014c0029t0001g0197 a0014c0029t0001g0198 a0014c0029t0001g0199 a0014c0029t0001g0197 a0014c0029t0001g0198 a0014c0029t0001g0199	3	428	0.0070	0	c.245 others(6): Show c.2456+7C>T		CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	18/21						chr16	TogoVar
CHTF18_chr16_783620_803074	796711	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	428	0.0023	0	c.245 others(6): Show c.2457-6G>A		CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	18/21						chr16	TogoVar
CHTF18_chr16_783620_803074	797835	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01071.hp2 HG02109.hp1 others(5): Show HG01069.hp1 HG01071.hp2 HG02109.hp1 HG02280.hp2 HG02615.hp2 HG03516.hp1 HG03579.hp1 NA19043.hp2	a0011 a0026 a0045 a0011 a0026 a0045	a0011c0020 a0011c0031 a0026c0038 others(1): Show a0011c0020 a0011c0031 a0026c0038 a0045c0071	a0011c0020t0001 a0011c0031t0001 a0026c0038t0001 others(1): Show a0011c0020t0001 a0011c0031t0001 a0026c0038t0001 a0045c0071t0001	a0011c0020t0001g0018 a0011c0031t0001g0027 a0026c0038t0001g0235 others(2): Show a0011c0020t0001g0018 a0011c0031t0001g0027 a0026c0038t0001g0235 a0026c0038t0001g0268 a0045c0071t0001g0234	8	428	0.0187	0	c.279 others(6): Show c.2792-4G>A		CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	21/21						chr16	TogoVar
CHTF8_chr16_69113010_69137588	69121436	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19072.hp2 NA19072.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0195	1	364	0.0028	0	c.23G others(2): Show c.23G>C	p.Ser others(4): Show p.Ser8Thr	CHTF8	ENSG00000168802.14	transcript	ENST00000448552.7	protein_coding	2/4	163/2921	23/366	8/121			chr16	TogoVar
CHURC1_chr14_64909455_64940368	64926004	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00558.hp1 HG00597.hp1 others(26): Show HG00408.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG01928.hp2 HG01975.hp1 HG02027.hp1 HG02080.hp1 HG02257.hp1 HG02809.hp1 HG03831.hp1 NA18612.hp2 NA18954.hp2 NA18960.hp1 NA18971.hp2 NA18980.hp1 NA18984.hp1 NA18985.hp2 NA18994.hp2 NA18997.hp1 NA19000.hp1 NA19007.hp1 NA19057.hp1 NA19063.hp1 NA19070.hp1 NA19082.hp2 NA19083.hp2 NA19087.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0026 a0001c0001t0004 a0001c0001t0007 a0001c0001t0026	a0001c0001t0004g0003 a0001c0001t0004g0005 a0001c0001t0004g0033 others(12): Show a0001c0001t0004g0003 a0001c0001t0004g0005 a0001c0001t0004g0033 a0001c0001t0004g0064 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0007g0075 a0001c0001t0026g0096	29	392	0.0740	0	c.176 others(5): Show c.176-6T>C		CHURC1	ENSG00000258289.10	transcript	ENST00000549115.7	protein_coding	2/3						chr14	TogoVar
CIAO1_chr2_96261225_96279173	96269261	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0057 a0001c0001t0005g0057	1	404	0.0025	0	c.692 others(5): Show c.692-7C>G		CIAO1	ENSG00000144021.3	transcript	ENST00000488633.2	protein_coding	5/6						chr2	TogoVar
CIAO2B_chr16_66927065_66939402	66933738	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18968.hp2 NA18968.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0009 a0003c0004t0001g0009	1	396	0.0025	0	c.224 others(3): Show c.224T>G	p.Val others(5): Show p.Val75Gly	CIAO2B	ENSG00000166595.12	transcript	ENST00000422424.7	protein_coding	3/5	262/668	224/492	75/163			chr16	TogoVar
CIAPIN1_chr16_57423187_57452385	57436652	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG01192.hp2 HG01257.hp1 others(5): Show HG00639.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01515.hp1 HG01517.hp1 HG02738.hp1 HG03490.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0045 a0002c0004t0001g0128 a0002c0004t0001g0163 others(4): Show a0002c0004t0001g0045 a0002c0004t0001g0128 a0002c0004t0001g0163 a0002c0004t0001g0164 a0002c0004t0001g0165 a0002c0004t0001g0166 a0002c0004t0001g0169	8	390	0.0205	0	c.387 others(5): Show c.387+4C>G		CIAPIN1	ENSG00000005194.15	transcript	ENST00000394391.9	protein_coding	4/8						chr16	TogoVar
CIART_chr1_150277554_150292093	150286426	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(309): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0003t0005 a0001c0007t0005 a0002c0002t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0002g0037 a0001c0001t0003g0003 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0003g0035 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0004g0005 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0006g0011 a0001c0001t0006g0029 a0001c0001t0007g0023 a0001c0001t0007g0042 a0001c0001t0008g0003 a0001c0001t0009g0001 a0001c0001t0010g0007 a0001c0001t0011g0014 a0001c0001t0012g0001 a0001c0001t0013g0011 a0001c0003t0005g0015 a0001c0003t0005g0024 a0001c0003t0005g0030 a0001c0003t0005g0033 a0001c0007t0005g0015 a0002c0002t0001g0010 a0004c0006t0001g0001	312	416	0.7500	0	c.634 others(5): Show c.634-4C>G		CIART	ENSG00000159208.16	transcript	ENST00000290363.6	protein_coding	4/4						chr1	TogoVar
CIB1_chr15_90224975_90238941	90231027	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(223): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0009 a0007c0008	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0002c0002t0001 a0003c0003t0001 a0003c0003t0008 a0004c0009t0001 a0007c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0007g0043 a0001c0001t0009g0044 a0002c0002t0001g0014 a0002c0002t0001g0048 a0003c0003t0001g0040 a0003c0003t0008g0041 a0004c0009t0001g0049 a0007c0008t0001g0045	226	460	0.4913	0	c.466 others(5): Show c.466-5C>G		CIB1	ENSG00000185043.13	transcript	ENST00000328649.11	protein_coding	5/6						chr15	TogoVar
CIB1_chr15_90224975_90238941	90231215	TAGAG TAGAG	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(315): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0009 a0005c0005 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0002c0002t0001 a0003c0003t0001 a0003c0003t0008 a0004c0009t0001 a0005c0005t0001 a0007c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0002g0007 a0001c0001t0002g0046 a0001c0001t0004g0042 a0001c0001t0006g0036 a0001c0001t0007g0043 a0001c0001t0009g0044 a0002c0002t0001g0014 a0002c0002t0001g0048 a0003c0003t0001g0040 a0003c0003t0008g0041 a0004c0009t0001g0049 a0005c0005t0001g0035 a0007c0008t0001g0045	318	460	0.6913	-4	c.347 others(15): Show c.347-6_347-3delCTCT		CIB1	ENSG00000185043.13	transcript	ENST00000328649.11	protein_coding	4/6						chr15	TogoVar
CIB2_chr15_78099606_78136445	78111279	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18971.hp2 NA18973.hp2 NA19007.hp2 others(2): Show NA18971.hp2 NA18973.hp2 NA19007.hp2 NA19079.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0274 a0001c0001t0003g0012 a0001c0001t0003g0274	5	390	0.0128	0	c.87- others(4): Show c.87-3A>G		CIB2	ENSG00000136425.14	transcript	ENST00000258930.8	protein_coding	2/5						chr15	TogoVar
CIB3_chr19_16156368_16178525	16168129	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02083.hp1 NA18948.hp1 NA18967.hp1 others(2): Show HG02083.hp1 NA18948.hp1 NA18967.hp1 NA19063.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0125 a0001c0001t0001g0151 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0125 a0001c0001t0001g0151 a0001c0001t0001g0152	5	378	0.0132	0	c.346 others(5): Show c.346+8C>T		CIB3	ENSG00000141977.9	transcript	ENST00000269878.8	protein_coding	4/5						chr19	TogoVar
CIB3_chr19_16156368_16178525	16173418	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	378	0.0027	0	c.51+ others(4): Show c.51+7G>A		CIB3	ENSG00000141977.9	transcript	ENST00000269878.8	protein_coding	1/5						chr19	TogoVar
CIB4_chr2_26576205_26646366	26627767	CACCCCTC others(2539): Show CACCCCTCACCCTTTCTCATTATTTTGTCTTCTCCACTCCTGCCTCTATT TCAAGACCCAGCTTTGTGCATTTTCCTCTGTCTCTGTCTGCCCTACAGAT AGGCCTGTCACTTAGGAGGGGCCGTGCAGCCGTGGCTTGAATGACATGTC TGTGCCCCCTCCATGTCCCTTCCTCAGGAGCCAGCCTCCTCCTCCCTGGT ATCCCCAGGCCTCTTCCAAGTGGTGGCCACAGTTCTCAGAGCCCAGTTCG TTCCAAACAGAAACGAAGATGGGCTCTCATTGAACAATGACAAACTGAAG TCATTATTCTGCCAAGAACCGAATGAAAAATAGAGAAGCCTGACGTAGCC ATGATTTGTTAACGTGACATTTCCTCTCAATGCAATGCACAAATTTTAAT TAAAATCTCAGGAGTGATTTTGGAGTCCTTTATTGTGTGCCTCTAGGCTC TTCCAGGCTGCCCTGGGGGAAGGGCAGGGCCTCTTCATAACAGGGATAAA GGCTCAGATAATTGTCCCTAAAGGATTGGGAGGTGGGGGGAGCAGGGACA GCTCAGGCTAGCACTGCCTGTGGGGCCAGGAGTCTTAGAGTGCACATGGT CACTCCCAGCCTCCCCCCACTGCTCTACCCATTTTACAGGTGAGGAAACC AAGACCAGGGAAGGTTTGCCAAGGACCCATCCACAGCAAGGGTGTGTGTT TGTGGGGGGTGGGAGTGTGTTCTAGGTGGTTGGAAGGTGAGATTCAGCCC AGGACAAGTTGTGGAAACTGGGAGGGAATGAGCATTCAACCAGCCTTCTG TGTAACAGGAGCCTCCAGCCCAGGCAGCGCTGGCTGAATTGAGGGCGAGT TGAGGAGAGAGAGGATTGCAAGAGCAGAAATGCAAGCACCCTTCTTTCCT GCAGCCACTCCTGGAGCTGGGAAAAAGGCAGGTTGGGAGGACAGTCTCTG GGCCCCGAGCCCTGCTCCTCCTGTCTTCTCAGAGAAGAACCTGAGAAAAT TCTCAGTCCCTCTAGAAAAGCCCCAGTCCATTGAGGCAGCCTGAGGAGAA GAGAAGGGCTGAGGGACTGGGCCGATGGCTAGGGTGGCACCCTGGCTTCC TCAAGGCCTAATGGTCCTGCAGGGGATCCTGGCCTAGGGTCACTTGCCCT AGTTTGGGGCACAACAGACAGCAGAGGAAACTGGCTGGTGTGGGGTCACT GGGGTGAGGGTTAAGTAAGGAATGAGCAAACAGAGTGGGGTGGACTGCAA GCTGAAGCCCATCTAAAGACCCATAGGCTGGCCTCGGAGGCTGAGCAGCA GGGCCAGTGAGCACCTCCAGATGGGGCCGCCACCTCCCACGGTAAGGCCT GGAGCAGGTCTCATGCCCCATCTGCCCCTGGCCCCACCTGAGAAGTAGTG ACTGTTATCACAGGGTCCTGCTCTAGGACCGAGGTGAGGATGGAGGGAGG CCAGATGCATGCAGGAAGTGTTTGGGAGCCATGTCCTTGCACTCCTCTGC CTGGAGGATCAGGAGCCCCTTGGAGTGAGGTGACCATCCCACAGCACGGA GTGCCCACCTCACCCCACCCCTCCCAGCACCCATCAGCCCATCAGCAGGT CCCACTGATGCTGCCCTTGCCCCACCCACCATCCTGGACTCACCCGCAGA GCTGGCAGGGAGCTGACCTGGTCCATGGTGAGCGTTGCCTCCTTGTAGTA CTTCCCAGGAGGGCAGAGCTTCAGGAAGGTGTCATGGATGCTGAAAAGAG AGGCATGAAGACCGTGTGGCCGGGGAAAGGAGGCCAGCACTGTGTGGCCG GGGAAAGGAGGCCAGCAAGCCTGTCTCCTGCTGCAAGGGGTGGGGGTGTC TCTTTGAGGAAGGAGACTTGGGGTTGGCTGACACAGAAAAGGCAGTAATC AATAATAATAAAGCGCAGTAATAAATATGTCTTCTAGAAACATCCCTGGA CCCTCCAGTGTGCCAGGCACACCATAGAGGATGCAGAGATGAGCCAGGTG AGAGGAAAGTTAGGCGAATATGCCCTGTAGCGAGCAGCACACTCTACGAG GGTTCATCATAGAATGTCAGAACTGAAGGGGCTTATGTCCAGTCCCTCGG TTACGGATGGGGAAGCCAGTAGGACCTTGGGGAAGCCAGGGTCCCCACCT CTGGCCATCTGCCAATTTCCATCCTCAACCCAAGAAAAGAGGTCACTTCG TGGGTCTGAGTGAGCCGGGATTAGAGCCCGGCTGCCTGCAGCCAGCAAAC CACCAGCCTTGCTAGGCCACTTGACAGCAAACTTGGTTGCAGCAGATCGT GGACTGACTGGTCTTCCTAATCATCCCTGTCAGCGATGTCTCTTGTCTAT AGGATCCCATCCCAGTCAAGAGGATTTTGCTTATAAGCTACAGGCAGAGG GTGAAATGGCCGTGTGACCCCTGAGAGTAAGAGGGCGGGAGGGAGCTCTG CCTCAGGCTAAGAGAGGATGAGCCCTCATTGCCTGTCTCTCTCACCCTAT CCTGAACCTGGGTCCCTGTCCACCAGCAAGCTCTTAGGCCTACAGGT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02083.hp2 HG02083.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0151 a0004c0008t0002g0151	1	344	0.0029	-2546	c.90- others(15): Show c.90-807_186+1642del		CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	3/7						chr2	TogoVar
CIBAR2_chr16_85093358_85117472	85100136	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	436	0.0023	0	c.753 others(5): Show c.753+3G>T		CIBAR2	ENSG00000153789.14	transcript	ENST00000539556.6	protein_coding	8/8						chr16	TogoVar
CIBAR2_chr16_85093358_85117472	85107950	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00733.hp2 others(26): Show HG00099.hp1 HG00099.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01515.hp1 HG01516.hp2 HG02145.hp2 HG02280.hp2 HG02559.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02922.hp1 HG03239.hp1 HG03239.hp2 HG03654.hp1 HG03688.hp2 HG03831.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18906.hp2 NA19240.hp1 NA21309.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0007c0010	a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0009 a0003c0004t0001 a0007c0010t0002	a0001c0001t0003g0050 a0001c0001t0003g0236 a0001c0001t0003g0241 others(17): Show a0001c0001t0003g0050 a0001c0001t0003g0236 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0005g0058 a0001c0001t0011g0242 a0001c0002t0002g0026 a0001c0002t0002g0183 a0001c0002t0002g0186 a0001c0002t0002g0188 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0003g0016 a0001c0002t0003g0229 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0008g0182 a0001c0002t0009g0230 a0003c0004t0001g0019 a0007c0010t0002g0187	29	436	0.0665	0	c.325 others(5): Show c.325-3C>T		CIBAR2	ENSG00000153789.14	transcript	ENST00000539556.6	protein_coding	3/8						chr16	TogoVar
CIBAR2_chr16_85093358_85117472	85108097	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0139 a0001c0011t0001g0139	1	436	0.0023	0	c.258 others(3): Show c.258C>T	p.Val others(5): Show p.Val86Val	CIBAR2	ENSG00000153789.14	transcript	ENST00000539556.6	protein_coding	3/9	378/1862	258/915	86/304			chr16	TogoVar
CIDEB_chr14_24300187_24312977	24307515	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02145.hp1 HG02257.hp2 HG02895.hp1 others(1): Show HG02145.hp1 HG02257.hp2 HG02895.hp1 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	4	414	0.0097	0	c.42G others(2): Show c.42G>A	p.Arg others(5): Show p.Arg14Arg	CIDEB	ENSG00000136305.12	transcript	ENST00000554411.6	protein_coding	2/5	161/1225	42/660	14/219			chr14	TogoVar
CIDEC_chr3_9861714_9885253	9879423	TGGCCTCC others(5823): Show TGGCCTCCCAAAGTGCGGGGATTACAGGCGTGAGCCACTGCACCTGGCAC AGGAGCTGTATTTTTTACTTTATTGAATTTTAACTAATTTAAATTTAAAT AGCCACATTGCCATGTGGCTGTTGGCACCCATATTAGATCACAGGTCTAA GCAGATAGCCCTGGGCTCATCTGTCACCACTTTTTCTCCTAAACCTCTGT GCTCCAACTCTTGAAGGGCCCAACCCTTTGCACAGATAGTTCCCTCCACC TGTAGTGCCCTTCTCTGATCCAGGACGAAATTTTTGCAGCCTTGAAGCCT CAGTTTCATTGCTTTCCACTCTTTAAAAGGAAAGTCTTCTTAGACCACTC CCAAAATTATTACACCTTCATCCTGCTCTTCCTAGCCAAGGGTGCCTCTG GGTCTGTTTCTGCTGTAGCCCCTCAGTCCCTGGATGCCTGGCCCTGAGGT CCTCTTCCTATTCGAAGCTCCCGGCACAGGTAGGGCTTCGCAGAGCAAGG GGCACAAGGGGTGGACATAAAACAAAAGTCCCCTTGCCAGCTGGGGACAA TCACTCTTTGCTTTTAACAATTTGGGGGACTTTCCAGACCAGGCCCCACA GAGGCAGAAAGCCCCTTTCCCACTTAGCACTGCAGAAGCTCTAGTCCTAG CTACGTGGGAGGCTGAGGCAGGAGGATTCTGCTTGCCTCAGCCTCACCCA CTTCGTATCCCTAGCAAAACTCTGCCAAGAGCTACCTAACCTGCTCTCCA GGAGCAAAGAAAAAAAAATCCCCAAACCCAAAACAATAACAAACTCCTTA CCTCCCCCTCACAGCCTCCTGGAAATACTGCCCTGTCCCGCCCAGCCCTC CCTTCATTTATTTCCAGCCCCCATGAAGCTCCTCCCCAGCCTTCAGCCCC AGCTGGGGAAAAGAGCTTGGGGTGAGAGCTGCAAGCCAGCCTGACTTCCA GAAAAGGCCTAAAAGGAGGGGAGAAGGCATGTTTCGAAAGCTTTGGCAAA ATGGATGGCCCATGACATGAGATCAAGCACAGAGGGCACAGAAAGCAGGC AGATGTGGGTTGTGGTCCCAACTCCACCCCATATCAGCTTGCTTGAGCTT AGACAGATCACTTGACTTCTGTGAGCCCGTTTCTCTTCTCTGTGTAATGA CGATAATGATTCTTGTTTTATAGGGTAGTGGTGAGGATTAGTGACAATAA AAGTAAAGGGGCACAGTGGCTCATGCCTATAATCCCAGTGTTTTGGGAGG CTGAGGCGGGAGGATTGCTTGAGGACAGGGGTTGGAGGACAGCCTGGGCA ATAGAGTGAGACCCTGTCTCTGAAAAAAAAAAAAAAAAAGAAAAGAAAAG AAAAAAGAAAAAAGTAGCCTGGGTGCCGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGA CCAGCATGGCCAACATGGTGAAGCCCCGTCTCTACTAAAAATAGAAAAAT GAGCCAGGCGTGGTGGTGTGTGCCTGTAATCCCAGCTATCTGGGAGGCTG AGGCAGGAGAATCGCTTGAGCCTGGGAGGCAGAGGTTGCGGTGAGCTTAG ATCACACCACTGCACTCCATTCTGGGTGACAGAGTGAGACCCTGTCTCAA AAAAAAAAAAAAAAAAAAAAAAGTCCGGGCACGGTGGCTCACACCTCTAA TCCCAGAACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAAGAGTTC GAGACCAGCTTGGTCAATATGGCGAAAACCCCATCTCTACTAAATATACA AAAATTAGCCGTGCGTGGTGGTGGGTGCCTGAAATCCCAGCTACTCAGGA GGCTGAGGCAGGAGAATCATTTGAACCCGGGAGGCAGAGGTTGCAGTGAG CCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGT CTCAAAAAAATAAAAATAAATAAAAATAAAGGCTTTGCAAACATAAACAC TCAATGGATCGAAGTGATTATTAGTATTACTGATAATTTTTTATTTTTAT TTTATTATTTTTAATTTTTTTGTCTTTTTCTCAATTTGATAATGTACATA TTAAATCATAGCAGAGAGTAAGACAAGCTGAAATGTGGAGTGGTTAAGAG TGTAAGATCTCTGACCCAGCAGTTCCACTTCTGTGTGTGTGCGTGTGGTG TATGTGTGTCATACAGAGCACACCTGTTGTCCCAGCTGCTCAGAAGGAGG CTGATGCAGGAGGATCACTTGAGCCCAGGAATTAAAATTTAGCCTGAGTA ACATAGGGAGACCCTGTCTTTACAAAAGAAAAGAAACAAAACCAAAACCA AACAAAATTACATATATATGTGTATATATATACACACACACATATATATA TACACATACATATCCAAAAGAAATGAAAAATATGTCTACACAAAAACTTG TATGTGAATATCCATAGGATTATTCGTAATAGCCAAAAGGTAGAAACACA TGAATGTTCAATTTATAAATCGATTTTTTAAATGTGCCTATCCATACATG GCATATTATTTATCAAAAAGGATCCATACTACCACATGGAGGAACCTTGC AAACAGTACAGAAAGTAGACAAAGCCAGTCACAGGAATCATATACATATT GTATGATTCCACTTATATGAAATGTCTAGAATAGGCAAATCTATATAAAG ACAAAGTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTG GGAGGCTGAGGTGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCTGG CTAACACGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACC ACTACACTCCAGCCTTGGGCGACAGAGCGAGACTCCGCCTCCAAAAAAAA AAAAAAAAAAAAAAAGACAAAATGGGTTAGTGGTTGCTTCGGGCTGGGAG TAGGGGATGGGAGGGGAATGGGGAGTGGCTGCTAATTAGTACAGGGTTTC TTTCAGGGTTTTCTTTTCTTTTTTTTTTTTTTCTTTTCTTTTTGAAACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCCGCTCA CTGCAAGCTCCGCCCCCCAGGTTCCCGCCATTCTCCTGCCTCAGCCTCTA GAGCAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGACCCACCCGGCTGGGCATCCCAAAGTTCTAGGATTAC AGGCAGGAGCCACCGCACCCAGCCTTTTCTTTTTCTTTTCTTTCTTTTTT TTTTTTTTGAGACAGAGCATTGCTCTGTCACTCAGGCTGGAGTGCAGTGG CACGATCTCGCCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTTTC CTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGTGCCTGCCACCACGCC TGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTCAGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTCTTCTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTATG TCACCACCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTTACAGCAACCT CTACCTCCCACAGGCGTGTGCCACCACACCTAGCTAATTTTTGTATTTTT AGTGACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGATTACAGGCGCCTGCCACCACACCCGGCTATTTTTTGTAT TTTTTAGTAGAGACGGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAAC TCCTGACCTCAAGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATT ACAGGCATGAACTACCACGCCCGGCCAGGTTTCCTTTTTTTTTTTTTTTT TTTTTACCTATTAATTACAAATTATTTCAGTGATGTTTGCACAACCCTGT AAATATACTAAAAATCATTGACTTGTACACTTGAGTGGGTGATGTGAATT CTATCTCAATAAAGCTGTGTTTTTTAAAAAAACATTTAACCTCATCTTTC TTTTAACACAGGGTTTTTCACACTTTGGTACATCAGAATCAGCTGGCGGG TTTGTTAAAATTCAGATTGCTAGGCCCCACCCCAGAATTTCTCACTTAGT AAGTCTGGGGTGGTGCCTAGGAATTTGCGTTACTAAAGGTTCCCAGATGA TTCAGAAGCCATGGCTGCTCAGGGAGCCCACTTTGAGAACCAGTGGTCTA GCGCTAGCTGTGTGAGCTAAATTTTCTAAGCTTCAGTTTGATCCAACAAC TGGGGATAAAAATAGCTCTACTGCATCTGGTTTCCATGCAGATTAAAAGA GATAATCGTGAAATGTACTTGCTACAGAGTCTAGTGCATCCTTAGAGCTC AATAAATGGAAATTATTATTATTTAGATCTAAATCCTTCCCTGGAGGGGC TCTCAGGCAACCATTCATTCATTCATTCAGGAAATATTTATTAAGCACTT ACTATATGCCAGTCCTTCTGGGGCTAAGAATACAACAGGAAACAAGACAG CCTTGTCCCACACTTCAAGGAGCTGACATTCCTGAGGAAGGTGGGAACTC AGACCATGAATAAATATGCAAATAAACAAAATAATTTCAGATAATGATGT TCTGGGAAGAAAACAAAACGAGGTGATATAATAACAGCTGGAGAGTTAGA TTGGCCTATGCGTTCAAGAAACGCCTCCAAGGAGGTGAGCTTTGAGGTAA ATCCTGACTAAATCCTGGGGGATGATCAAGACAAAGGAAACATCATTGCA AAGGATTTGAGAAGGGAGCATGAAGAGAGAGTGAGGAGACAGGAACACAT ATAACTTAAACTTAAGGACAGACCAAGAGCCAGGAGAAAGGTACAAGCAA AACCCTTTAGGGAAGAGGTTCTGGAGAAAGAGTCGGGGCCCCTCCCTTCA ACAGTCATGGCTCAAATATTTATTGCTCTACTGTGTACTTGATGTCCTGA GATAGATAGGCCAATAGATGACTCAGGAGAGGTCTGGCCCTGACAGAAAA CCAGACACAGAAAGACGAAGATAACCACGAGCTACAGCCAGAGAGCACTG TCCAGGGATGAAGGATAAACCCGGGGATTCTTCACAGCAATTAGGAGAGG GAGACGGTTTTGGCTCCATTGGAATTTATCTATTCAACCAGCATTTCTTT CTTTTTAAATTTTTTTTCTTTTTTTTCTTTTAATAGAGATGGAGTTTTGC CATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTTAAGCGATCCTCCCGC CTCGAGCTCCCAAAGTGCTGGGATTACAGGCGTTGAAATTTTTACACTAT GCCAGACACTATGAGCTGCTGGGGACATGGATGACTTAGTTCTTGTCCCT GCCTTTGGGGAATTCACATTCCAGTGAGAAAGGCAATGTCTGAGCATGGT TCTCAAACTCTGTAGTACATGAAAATCATCTGGGACACCTCGGATTGGAA AAGGACTGTGGCTACAACTCAAAATTGAGAAGCCACTAAATTTAAAAATA TATTCTGCATGTTAAATTTATAACACCATGA	T T	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	NA18943.hp2 NA18973.hp2 NA18943.hp2 NA18973.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0048 a0001c0003t0005g0049 a0001c0003t0005g0048 a0001c0003t0005g0049	2	410	0.0049	-5830	c.-51 others(14): Show c.-5168_-138-370del		CIDEC	ENSG00000187288.12	transcript	ENST00000336832.7	protein_coding	1/7						chr3	TogoVar
CIITA_chr16_10872202_10941394	10901510	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19054.hp1 NA19054.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0008 a0003c0017t0008	a0003c0017t0008g0156 a0003c0017t0008g0156	1	392	0.0026	0	c.437 others(5): Show c.437-4G>A		CIITA	ENSG00000179583.21	transcript	ENST00000324288.14	protein_coding	5/19						chr16	TogoVar
CIITA_chr16_10872202_10941394	10922408	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG06807.hp1 HG06807.hp1	a0024 a0024	a0024c0052 a0024c0052	a0024c0052t0017 a0024c0052t0017	a0024c0052t0017g0041 a0024c0052t0017g0041	1	392	0.0026	0	c.323 others(4): Show c.3235G>A	p.Val others(7): Show p.Val1079Ile	CIITA	ENSG00000179583.21	transcript	ENST00000324288.14	protein_coding	18/20	3364/16061	3235/3393	1079/1130			chr16	TogoVar
CIITA_chr16_10872202_10941394	10923871	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00408.hp1 HG00544.hp1 others(41): Show HG00099.hp2 HG00408.hp1 HG00544.hp1 HG01069.hp1 HG01123.hp1 HG01243.hp1 HG01256.hp2 HG01361.hp1 HG01884.hp2 HG01943.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02300.hp2 HG02559.hp2 NA18612.hp2 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18949.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18971.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18993.hp1 NA18998.hp1 NA19003.hp2 NA19007.hp1 NA19012.hp2 NA19054.hp1 NA19068.hp1 NA19068.hp2 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0012 a0017	a0001c0001 a0001c0003 a0001c0005 others(16): Show a0001c0001 a0001c0003 a0001c0005 a0001c0015 a0001c0020 a0001c0023 a0002c0002 a0002c0028 a0003c0007 a0003c0009 a0003c0017 a0003c0055 a0004c0004 a0004c0049 a0006c0019 a0007c0011 a0008c0013 a0012c0026 a0017c0033	a0001c0001t0003 a0001c0003t0005 a0001c0005t0002 others(34): Show a0001c0001t0003 a0001c0003t0005 a0001c0005t0002 a0001c0005t0003 a0001c0005t0007 a0001c0005t0008 a0001c0005t0018 a0001c0005t0024 a0001c0005t0030 a0001c0015t0003 a0001c0015t0008 a0001c0020t0030 a0001c0023t0003 a0001c0023t0036 a0002c0002t0001 a0002c0002t0004 a0002c0028t0003 a0003c0007t0004 a0003c0009t0002 a0003c0009t0003 a0003c0009t0006 a0003c0009t0008 a0003c0009t0009 a0003c0009t0018 a0003c0009t0086 a0003c0009t0124 a0003c0017t0008 a0003c0055t0003 a0004c0004t0001 a0004c0049t0003 a0006c0019t0001 a0006c0019t0003 a0007c0011t0003 a0008c0013t0003 a0008c0013t0010 a0012c0026t0082 a0017c0033t0003	a0001c0001t0003g0283 a0001c0001t0003g0285 a0001c0003t0005g0307 others(41): Show a0001c0001t0003g0283 a0001c0001t0003g0285 a0001c0003t0005g0307 a0001c0005t0002g0005 a0001c0005t0002g0232 a0001c0005t0003g0362 a0001c0005t0007g0279 a0001c0005t0008g0005 a0001c0005t0008g0074 a0001c0005t0008g0243 a0001c0005t0018g0320 a0001c0005t0024g0366 a0001c0005t0030g0135 a0001c0015t0003g0255 a0001c0015t0003g0275 a0001c0015t0008g0199 a0001c0020t0030g0020 a0001c0023t0003g0081 a0001c0023t0036g0257 a0002c0002t0001g0288 a0002c0002t0004g0237 a0002c0028t0003g0347 a0003c0007t0004g0190 a0003c0009t0002g0184 a0003c0009t0003g0192 a0003c0009t0006g0172 a0003c0009t0008g0299 a0003c0009t0009g0012 a0003c0009t0018g0012 a0003c0009t0086g0213 a0003c0009t0124g0180 a0003c0017t0008g0156 a0003c0017t0008g0163 a0003c0017t0008g0173 a0003c0055t0003g0153 a0004c0004t0001g0298 a0004c0049t0003g0176 a0006c0019t0001g0015 a0006c0019t0003g0015 a0007c0011t0003g0152 a0008c0013t0003g0054 a0008c0013t0010g0259 a0012c0026t0082g0038 a0017c0033t0003g0072	44	392	0.1122	0	c.23 others(5): Show c.23-7G>C		CIITA	ENSG00000179583.21	transcript	ENST00000324288.14	protein_coding	19/19						chr16	TogoVar
CILK1_chr6_52996303_53066824	53016077	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp2 HG03130.hp2 HG03209.hp1 HG02258.hp2 HG03130.hp2 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0012 a0001c0004t0004g0034 a0001c0004t0004g0012 a0001c0004t0004g0034	3	244	0.0123	-1	c.831 others(6): Show c.831+5delT		CILK1	ENSG00000112144.16	transcript	ENST00000676107.1	protein_coding	8/13						chr6	TogoVar
CILP_chr15_65189760_65216473	65201874	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(158): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00438.hp1 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18944.hp1 NA18948.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18986.hp2 NA18998.hp1 NA19005.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19068.hp2 NA19077.hp1 NA19079.hp2 NA19082.hp2 NA19087.hp2 NA19088.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0002 a0003 a0005 others(4): Show a0002 a0003 a0005 a0006 a0007 a0012 a0013	a0002c0002 a0002c0008 a0002c0010 others(8): Show a0002c0002 a0002c0008 a0002c0010 a0002c0020 a0003c0003 a0003c0004 a0005c0022 a0006c0021 a0007c0011 a0012c0014 a0013c0015	a0002c0002t0001 a0002c0002t0005 a0002c0002t0010 others(17): Show a0002c0002t0001 a0002c0002t0005 a0002c0002t0010 a0002c0002t0013 a0002c0002t0015 a0002c0002t0016 a0002c0008t0001 a0002c0010t0001 a0002c0020t0018 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0009 a0003c0004t0001 a0005c0022t0003 a0006c0021t0001 a0007c0011t0001 a0012c0014t0001 a0013c0015t0001	a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0009 others(79): Show a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0020 a0002c0002t0001g0026 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0048 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0090 a0002c0002t0001g0099 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0146 a0002c0002t0001g0148 a0002c0002t0005g0021 a0002c0002t0010g0094 a0002c0002t0013g0092 a0002c0002t0015g0119 a0002c0002t0016g0114 a0002c0008t0001g0034 a0002c0010t0001g0138 a0002c0010t0001g0139 a0002c0020t0018g0093 a0003c0003t0001g0019 a0003c0003t0001g0096 a0003c0003t0001g0103 a0003c0003t0001g0117 a0003c0003t0001g0133 a0003c0003t0002g0012 a0003c0003t0002g0036 a0003c0003t0002g0089 a0003c0003t0002g0107 a0003c0003t0002g0111 a0003c0003t0002g0113 a0003c0003t0002g0121 a0003c0003t0002g0131 a0003c0003t0003g0039 a0003c0003t0003g0086 a0003c0003t0003g0097 a0003c0003t0003g0098 a0003c0003t0004g0016 a0003c0003t0004g0116 a0003c0003t0004g0120 a0003c0003t0009g0106 a0003c0004t0001g0013 a0003c0004t0001g0144 a0003c0004t0001g0147 a0005c0022t0003g0141 a0006c0021t0001g0140 a0007c0011t0001g0077 a0012c0014t0001g0100 a0013c0015t0001g0112	161	332	0.4849	0	c.118 others(4): Show c.1184T>C	p.Ile others(6): Show p.Ile395Thr	CILP	ENSG00000138615.6	transcript	ENST00000261883.6	protein_coding	8/9	1336/5678	1184/3555	395/1184			chr15	TogoVar
CINP_chr14_102343282_102367890	102355770	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0105 a0001c0006t0002g0105	1	420	0.0024	0	c.304 others(3): Show c.304T>C	p.Leu others(6): Show p.Leu102Leu	CINP	ENSG00000100865.15	transcript	ENST00000216756.11	protein_coding	3/5	343/953	304/639	102/212			chr14	TogoVar
CIP2A_chr3_108544864_108594438	108553648	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03834.hp2 HG03834.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0002 a0013c0018t0002	a0013c0018t0002g0274 a0013c0018t0002g0274	1	372	0.0027	0	c.240 others(4): Show c.2407A>G	p.Asn others(6): Show p.Asn803Asp	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	19/21	2470/4066	2407/2718	803/905			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108579694	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19081.hp1 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0123 a0002c0002t0001g0123	1	372	0.0027	0	c.550 others(5): Show c.550-6C>T		CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	5/20						chr3	TogoVar
CIP2A_chr3_108544864_108594438	108582974	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0153 a0004c0004t0005g0153	1	372	0.0027	0	c.357 others(5): Show c.357+3A>T		CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	3/20						chr3	TogoVar
CIRBP_chr19_1264332_1279810	1270930	C C	T T	splice_region_variant splice_region_variant	LOW	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0001 a0001c0001t0022g0001	1	280	0.0036	0	c.-4C others(2): Show c.-4C>T		CIRBP	ENSG00000099622.14	transcript	ENST00000587896.6	protein_coding	2/6						chr19	TogoVar
CIRBP_chr19_1264332_1279810	1271132	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0026 a0001c0002t0017g0026	1	280	0.0036	0	c.104 others(5): Show c.104-8C>G		CIRBP	ENSG00000099622.14	transcript	ENST00000587896.6	protein_coding	2/5						chr19	TogoVar
CIROP_chr14_23094062_23109989	23100846	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp2 HG01071.hp1 HG01358.hp1 others(40): Show HG01070.hp2 HG01071.hp1 HG01358.hp1 HG01975.hp1 HG02027.hp1 HG02056.hp1 HG02132.hp1 HG02257.hp2 HG02615.hp1 HG03669.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18986.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19007.hp2 NA19070.hp1 NA19075.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19085.hp2 NA19087.hp2 NA20300.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 a0001c0001t0001 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0054 a0003c0003t0001g0077 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0054 a0003c0003t0001g0077 a0004c0004t0001g0003 a0004c0004t0001g0066 a0004c0004t0001g0067	43	450	0.0956	0	c.197 others(6): Show c.1979+4A>G		CIROP	ENSG00000283654.3	transcript	ENST00000637218.2	protein_coding	14/15						chr14	TogoVar
CIROP_chr14_23094062_23109989	23103287	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp1	a0007 a0022 a0007 a0022	a0007c0041 a0022c0032 a0007c0041 a0022c0032	a0007c0041t0001 a0022c0032t0001 a0007c0041t0001 a0022c0032t0001	a0007c0041t0001g0064 a0022c0032t0001g0043 a0007c0041t0001g0064 a0022c0032t0001g0043	3	450	0.0067	0	c.777 others(3): Show c.777C>T	p.Gly others(6): Show p.Gly259Gly	CIROP	ENSG00000283654.3	transcript	ENST00000637218.2	protein_coding	6/16	846/2656	777/2367	259/788			chr14	TogoVar
CIROP_chr14_23094062_23109989	23104297	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	450	0.0022	0	c.408 others(5): Show c.408-3T>C		CIROP	ENSG00000283654.3	transcript	ENST00000637218.2	protein_coding	2/15						chr14	TogoVar

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Search Results (Total: 10000 hits)