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	status	chr	external
BTNL2_chr6_32388339_32412181	32401809	GAA GAA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 HG00642.hp2 HG01081.hp2 others(47): Show HG00438.hp2 HG00642.hp2 HG01081.hp2 HG01255.hp2 HG02015.hp2 HG02129.hp2 HG02132.hp2 HG02683.hp2 HG02922.hp2 HG03490.hp2 HG03669.hp2 HG03831.hp2 HG04204.hp2 NA18940.hp2 NA18942.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18969.hp2 NA18972.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp2 NA19030.hp2 NA19056.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp2 NA19081.hp2 NA19085.hp2 NA19091.hp2 NA20905.hp1	a0004 a0008 a0004 a0008	a0004c0003 a0008c0011 a0004c0003 a0008c0011	a0004c0003t0003 a0008c0011t0004 a0004c0003t0003 a0008c0011t0004	a0004c0003t0003g0001 a0004c0003t0003g0015 a0004c0003t0003g0042 others(13): Show a0004c0003t0003g0001 a0004c0003t0003g0015 a0004c0003t0003g0042 a0004c0003t0003g0067 a0004c0003t0003g0068 a0004c0003t0003g0178 a0004c0003t0003g0179 a0004c0003t0003g0180 a0004c0003t0003g0181 a0004c0003t0003g0182 a0004c0003t0003g0183 a0004c0003t0003g0184 a0004c0003t0003g0185 a0008c0011t0004g0043 a0008c0011t0004g0186 a0008c0011t0004g0187	50	453	0.1104	-2	c.710 others(13): Show c.710-6_710-5delTT		BTNL2	ENSG00000204290.11	transcript	ENST00000454136.8	protein_coding	3/7					chr6	TogoVar
BTNL2_chr6_32388339_32412181	32403216	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01192.hp1 HG03017.hp2 NA18940.hp1 others(14): Show HG01192.hp1 HG03017.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18953.hp1 NA18981.hp2 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA19060.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp1 NA19086.hp2 NA19091.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0005 a0006c0007t0001g0025 a0006c0007t0001g0055 others(1): Show a0006c0007t0001g0005 a0006c0007t0001g0025 a0006c0007t0001g0055 a0006c0007t0001g0127	17	453	0.0375	0	c.428 others(3): Show c.428G>A	p.Gly others(6): Show p.Gly143Asp	BTNL2	ENSG00000204290.11	transcript	ENST00000454136.8	protein_coding	3/8	486/1564	428/1449	143/482		chr6	TogoVar
BTNL2_chr6_32388339_32412181	32407041	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0076 a0003c0004t0002g0076	1	453	0.0022	0	c.79+ others(4): Show c.79+4G>A		BTNL2	ENSG00000204290.11	transcript	ENST00000454136.8	protein_coding	1/7					chr6	TogoVar
BTNL3_chr5_180983846_181011727	181004770	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03225.hp1 HG03225.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0010 a0007c0009t0010	a0007c0009t0010g0100 a0007c0009t0010g0100	1	206	0.0049	0	c.862 others(5): Show c.862+8C>T		BTNL3	ENSG00000168903.9	transcript	ENST00000342868.7	protein_coding	7/7					chr5	TogoVar
BTNL8_chr5_180894159_180955906	180949273	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp1 HG02809.hp2 HG02280.hp1 HG02809.hp2	a0008 a0008	a0008c0019 a0008c0025 a0008c0019 a0008c0025	a0008c0019t0001 a0008c0025t0001 a0008c0019t0001 a0008c0025t0001	a0008c0019t0001g0046 a0008c0025t0001g0045 a0008c0019t0001g0046 a0008c0025t0001g0045	2	190	0.0105	0	c.862 others(5): Show c.862+8C>T		BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	7/7					chr5	TogoVar
BTNL9_chr5_181035266_181066521	181054216	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp1 HG02572.hp1 HG02622.hp2 others(14): Show HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02965.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp2 HG06807.hp2 NA19011.hp1 NA19084.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0009 others(2): Show a0001c0001 a0001c0006 a0001c0009 a0002c0002 a0002c0003	a0001c0001t0011 a0001c0006t0006 a0001c0009t0008 others(3): Show a0001c0001t0011 a0001c0006t0006 a0001c0009t0008 a0002c0002t0003 a0002c0002t0006 a0002c0003t0002	a0001c0001t0011g0253 a0001c0001t0011g0254 a0001c0006t0006g0009 others(11): Show a0001c0001t0011g0253 a0001c0001t0011g0254 a0001c0006t0006g0009 a0001c0006t0006g0062 a0001c0006t0006g0064 a0001c0006t0006g0065 a0001c0009t0008g0116 a0001c0009t0008g0118 a0001c0009t0008g0119 a0001c0009t0008g0120 a0001c0009t0008g0121 a0002c0002t0003g0060 a0002c0002t0006g0114 a0002c0003t0002g0098	17	390	0.0436	1	c.887 others(6): Show c.887-7dupT		BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	6/10				INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL9_chr5_181035266_181066521	181054216	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00558.hp2 HG01070.hp1 others(19): Show HG00140.hp1 HG00558.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01515.hp1 HG01975.hp1 HG03017.hp1 HG03098.hp1 HG03486.hp2 HG03491.hp1 HG04199.hp2 NA18960.hp2 NA18969.hp1 NA18977.hp2 NA18994.hp2 NA18997.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0005 a0001c0008 others(3): Show a0001c0001 a0001c0005 a0001c0008 a0002c0002 a0002c0003 a0011c0030	a0001c0001t0001 a0001c0005t0004 a0001c0008t0001 others(4): Show a0001c0001t0001 a0001c0005t0004 a0001c0008t0001 a0002c0002t0003 a0002c0002t0014 a0002c0003t0002 a0011c0030t0002	a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0001t0001g0189 others(14): Show a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0001t0001g0189 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0238 a0001c0005t0004g0125 a0001c0008t0001g0268 a0002c0002t0003g0072 a0002c0002t0003g0115 a0002c0002t0014g0069 a0002c0002t0014g0070 a0002c0003t0002g0008 a0002c0003t0002g0018 a0002c0003t0002g0107 a0002c0003t0002g0252 a0011c0030t0002g0008	22	390	0.0564	-1	c.887 others(6): Show c.887-7delT		BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	6/10				INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL9_chr5_181035266_181066521	181058353	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01106.hp2 HG01261.hp2 HG02071.hp1 others(23): Show HG01106.hp2 HG01261.hp2 HG02071.hp1 HG02280.hp2 HG02602.hp1 HG02818.hp1 HG02922.hp2 HG03041.hp2 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp1 HG04115.hp2 HG04184.hp2 NA18522.hp1 NA18940.hp2 NA18944.hp1 NA18994.hp1 NA18998.hp2 NA19054.hp2 NA19064.hp2 NA19066.hp2 NA19072.hp1 NA19082.hp2 NA20129.hp1	a0001 a0010 a0001 a0010	a0001c0004 a0001c0014 a0001c0020 others(1): Show a0001c0004 a0001c0014 a0001c0020 a0010c0025	a0001c0004t0005 a0001c0004t0013 a0001c0014t0001 others(2): Show a0001c0004t0005 a0001c0004t0013 a0001c0014t0001 a0001c0020t0005 a0010c0025t0005	a0001c0004t0005g0049 a0001c0004t0005g0050 a0001c0004t0005g0051 others(19): Show a0001c0004t0005g0049 a0001c0004t0005g0050 a0001c0004t0005g0051 a0001c0004t0005g0052 a0001c0004t0005g0261 a0001c0004t0005g0262 a0001c0004t0005g0263 a0001c0004t0005g0265 a0001c0004t0005g0266 a0001c0004t0005g0267 a0001c0004t0005g0270 a0001c0004t0005g0271 a0001c0004t0005g0272 a0001c0004t0005g0273 a0001c0004t0005g0274 a0001c0004t0005g0275 a0001c0004t0005g0276 a0001c0004t0013g0046 a0001c0014t0001g0051 a0001c0014t0001g0269 a0001c0020t0005g0175 a0010c0025t0005g0264	26	390	0.0667	0	c.957 others(3): Show c.957G>A	p.Glu others(6): Show p.Glu319Glu	BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	10/11	1147/3457	957/1608	319/535		chr5	TogoVar
BTRC_chr10_101349165_101562313	101521877	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00438.hp1 HG00438.hp2 others(92): Show HG00140.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG03017.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp2 HG03490.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp1 NA18522.hp1 NA18944.hp1 NA18948.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp2 NA18975.hp2 NA18978.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19043.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19084.hp2 NA19090.hp1 NA19240.hp2 NA20805.hp1 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0005c0006t0003	a0001c0001t0001g0173 a0001c0001t0001g0200 a0001c0001t0003g0017 others(92): Show a0001c0001t0001g0173 a0001c0001t0001g0200 a0001c0001t0003g0017 a0001c0001t0003g0164 a0001c0001t0003g0170 a0001c0001t0003g0175 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0192 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0212 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0229 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0250 a0001c0001t0003g0252 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0004g0016 a0001c0001t0004g0018 a0001c0001t0004g0163 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0174 a0001c0001t0004g0177 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0191 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0211 a0001c0001t0004g0213 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0248 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0260 a0001c0001t0005g0086 a0001c0001t0005g0176 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0005g0261 a0005c0006t0003g0251	95	266	0.3571	0	c.556 others(5): Show c.556+7C>G		BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	5/14					chr10	TogoVar
BUB1_chr2_110632528_110683063	110661849	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00438.hp2 HG00639.hp2 others(61): Show HG00423.hp1 HG00438.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01167.hp1 HG01192.hp2 HG01243.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02647.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03831.hp2 HG03927.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18961.hp1 NA18966.hp2 NA18970.hp1 NA18990.hp1 NA18991.hp2 NA19056.hp2 NA19076.hp2 NA19082.hp2 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0004c0006t0002	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(55): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0034 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0003g0012 a0001c0001t0003g0073 a0001c0001t0003g0078 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0004g0011 a0001c0001t0004g0076 a0001c0001t0006g0035 a0001c0001t0006g0141 a0001c0001t0006g0143 a0001c0001t0010g0013 a0001c0001t0010g0015 a0001c0001t0010g0018 a0001c0001t0013g0032 a0001c0001t0013g0033 a0004c0006t0002g0016	64	182	0.3517	0	c.958 others(5): Show c.958-8T>C		BUB1	ENSG00000169679.15	transcript	ENST00000302759.11	protein_coding	9/24					chr2	TogoVar
BUB3_chr10_123149402_123175467	123157710	CCTTTTTT others(5): Show CCTTTTTTTTTCT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0038 a0001c0001t0084g0038	1	418	0.0024	-12	c.266 others(24): Show c.266-16_266-5delTTTTTTTTCTCT		BUB3	ENSG00000154473.18	transcript	ENST00000368865.9	protein_coding	3/7				INFO_REALIGN_3_PRIME	chr10	TogoVar
BUB3_chr10_123149402_123175467	123157722	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00408.hp1 HG00423.hp2 others(125): Show HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00738.hp2 HG01109.hp1 HG01257.hp2 HG01884.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG04115.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19054.hp1 NA19057.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(31): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0002t0003 a0001c0002t0027	a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0012 others(56): Show a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0012 a0001c0001t0003g0023 a0001c0001t0003g0030 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0004g0003 a0001c0001t0004g0007 a0001c0001t0004g0015 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0019 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0012g0007 a0001c0001t0017g0014 a0001c0001t0017g0020 a0001c0001t0017g0037 a0001c0001t0018g0021 a0001c0001t0018g0035 a0001c0001t0024g0007 a0001c0001t0025g0003 a0001c0001t0026g0004 a0001c0001t0026g0014 a0001c0001t0028g0003 a0001c0001t0029g0047 a0001c0001t0029g0048 a0001c0001t0030g0022 a0001c0001t0064g0015 a0001c0001t0065g0042 a0001c0001t0066g0007 a0001c0001t0067g0007 a0001c0001t0068g0003 a0001c0001t0069g0041 a0001c0001t0070g0008 a0001c0001t0071g0012 a0001c0001t0072g0008 a0001c0001t0073g0014 a0001c0001t0074g0040 a0001c0001t0075g0003 a0001c0001t0076g0033 a0001c0001t0077g0003 a0001c0001t0078g0039 a0001c0001t0079g0036 a0001c0001t0080g0034 a0001c0001t0081g0019 a0001c0001t0082g0009 a0001c0001t0083g0009 a0001c0002t0003g0012 a0001c0002t0027g0012 a0001c0002t0027g0023	128	418	0.3062	0	c.266 others(5): Show c.266-7T>C		BUB3	ENSG00000154473.18	transcript	ENST00000368865.9	protein_coding	3/7					chr10	TogoVar
BUD31_chr7_99403969_99424616	99409248	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	360	0.0028	0	c.-16 others(6): Show c.-166+3A>G		BUD31	ENSG00000106245.11	transcript	ENST00000222969.10	protein_coding	1/5					chr7	TogoVar
BVES_chr6_105091822_105142157	105133592	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG02109.hp2 HG02886.hp1 others(3): Show HG01884.hp2 HG02109.hp2 HG02886.hp1 HG02965.hp1 HG03209.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0046 a0001c0001t0007 a0001c0001t0046	a0001c0001t0007g0014 a0001c0001t0007g0054 a0001c0001t0007g0055 others(2): Show a0001c0001t0007g0014 a0001c0001t0007g0054 a0001c0001t0007g0055 a0001c0001t0007g0058 a0001c0001t0046g0053	6	232	0.0259	-1	c.-11 others(6): Show c.-11-5delT		BVES	ENSG00000112276.14	transcript	ENST00000314641.10	protein_coding	1/7					chr6	TogoVar
BYSL_chr6_41916499_41938046	41927539	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp1 HG01934.hp2 HG01175.hp1 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	2	464	0.0043	0	c.431 others(5): Show c.431+3A>G		BYSL	ENSG00000112578.10	transcript	ENST00000230340.9	protein_coding	2/6					chr6	TogoVar
BYSL_chr6_41916499_41938046	41931560	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	464	0.0022	0	c.865 others(5): Show c.865+4G>A		BYSL	ENSG00000112578.10	transcript	ENST00000230340.9	protein_coding	5/6					chr6	TogoVar
BYSL_chr6_41916499_41938046	41931834	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	464	0.0022	0	c.968 others(5): Show c.968+4G>A		BYSL	ENSG00000112578.10	transcript	ENST00000230340.9	protein_coding	6/6					chr6	TogoVar
C10orf120_chr10_122692709_122704846	122699338	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18948.hp2 NA19082.hp1 NA18948.hp2 NA19082.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0033 a0006c0008t0001g0034 a0006c0008t0001g0033 a0006c0008t0001g0034	2	446	0.0045	0	c.251 others(3): Show c.251T>C	p.Leu others(5): Show p.Leu84Pro	C10orf120	ENSG00000183559.12	transcript	ENST00000329446.5	protein_coding	2/3	307/1088	251/1008	84/335		chr10	TogoVar
C10orf53_chr10_49674651_49702532	49693892	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00438.hp2 HG00597.hp2 HG00609.hp2 others(120): Show HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01358.hp1 HG01361.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02074.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18984.hp2 NA18992.hp2 NA19000.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp2 NA19062.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 others(14): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0002t0030 a0001c0002t0031 a0001c0002t0032 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037	a0001c0002t0003g0004 a0001c0002t0003g0006 a0001c0002t0003g0019 others(50): Show a0001c0002t0003g0004 a0001c0002t0003g0006 a0001c0002t0003g0019 a0001c0002t0003g0021 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0056 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0080 a0001c0002t0003g0085 a0001c0002t0003g0088 a0001c0002t0003g0111 a0001c0002t0003g0112 a0001c0002t0005g0027 a0001c0002t0005g0030 a0001c0002t0005g0031 a0001c0002t0005g0040 a0001c0002t0005g0044 a0001c0002t0005g0064 a0001c0002t0005g0086 a0001c0002t0006g0008 a0001c0002t0006g0047 a0001c0002t0006g0048 a0001c0002t0007g0010 a0001c0002t0007g0011 a0001c0002t0007g0046 a0001c0002t0008g0023 a0001c0002t0008g0024 a0001c0002t0008g0028 a0001c0002t0011g0010 a0001c0002t0011g0058 a0001c0002t0016g0029 a0001c0002t0017g0045 a0001c0002t0017g0049 a0001c0002t0018g0024 a0001c0002t0018g0089 a0001c0002t0030g0004 a0001c0002t0031g0065 a0001c0002t0032g0021 a0001c0002t0033g0006 a0001c0002t0034g0004 a0001c0002t0035g0004 a0001c0002t0036g0024 a0001c0002t0037g0023	123	426	0.2887	0	c.216 others(3): Show c.216C>T	p.Phe others(5): Show p.Phe72Phe	C10orf53	ENSG00000178645.14	transcript	ENST00000374111.8	protein_coding	2/3	263/3259	216/282	72/93		chr10	TogoVar
C10orf67_chr10_23197696_23349797	23267259	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG03195.hp1 HG02257.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0003 a0001c0002t0001g0007	2	326	0.0061	0	c.976 others(5): Show c.976-5T>C		C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	8/15					chr10	TogoVar
C10orf67_chr10_23197696_23349797	23289956	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03139.hp2 HG03453.hp2 NA18522.hp2 HG03139.hp2 HG03453.hp2 NA18522.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0223 a0003c0005t0002g0224 a0003c0005t0002g0225 a0003c0005t0002g0223 a0003c0005t0002g0224 a0003c0005t0002g0225	3	326	0.0092	0	c.853 others(3): Show c.853G>T	p.Asp others(6): Show p.Asp285Tyr	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	7/16	876/3153	853/1653	285/550		chr10	TogoVar
C10orf67_chr10_23197696_23349797	23291129	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp2 HG00673.hp1 HG01123.hp2 others(33): Show HG00544.hp2 HG00673.hp1 HG01123.hp2 HG01943.hp2 HG02040.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02155.hp2 HG02523.hp1 HG02698.hp2 HG03669.hp1 HG04115.hp2 NA18612.hp1 NA18941.hp1 NA18942.hp2 NA18951.hp1 NA18954.hp2 NA18959.hp1 NA18966.hp2 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18978.hp2 NA18988.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19007.hp2 NA19057.hp2 NA19068.hp1 NA19070.hp1 NA19080.hp2 NA19083.hp1 NA19087.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 a0001c0001t0001 a0001c0001t0013 a0001c0002t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0232 others(33): Show a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0264 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0013g0285 a0001c0002t0001g0027 a0001c0002t0001g0028	36	326	0.1104	0	c.850 others(5): Show c.850+3A>G		C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	6/15					chr10	TogoVar
C10orf67_chr10_23197696_23349797	23303299	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	326	0.0031	0	c.702 others(5): Show c.702+5G>C		C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	5/15					chr10	TogoVar
C10orf82_chr10_116658696_116674966	116665831	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	466	0.0022	0	c.56- others(4): Show c.56-5T>G		C10orf82	ENSG00000165863.17	transcript	ENST00000588184.2	protein_coding	2/5					chr10	TogoVar
C10orf90_chr10_126419997_126675693	126425986	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp1 HG02922.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0007 a0005c0006t0001g0007	1	218	0.0046	0	c.235 others(6): Show c.2352+5T>C		C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	9/9					chr10	TogoVar
C11orf16_chr11_8915076_8937947	8925463	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02280.hp2 HG03041.hp1 HG02280.hp2 HG03041.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0041 a0009c0012t0001g0041	2	410	0.0049	0	c.120 others(4): Show c.1204G>C	p.Gly others(6): Show p.Gly402Arg	C11orf16	ENSG00000176029.14	transcript	ENST00000326053.10	protein_coding	5/7	1269/1866	1204/1404	402/467		chr11	TogoVar
C11orf21_chr11_2290628_2306918	2300515	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02080.hp2 HG02080.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0053 a0003c0004t0003g0053	1	426	0.0024	0	c.147 others(5): Show c.147+5G>T		C11orf21	ENSG00000110665.12	transcript	ENST00000381153.8	protein_coding	2/3					chr11	TogoVar
C11orf42_chr11_6200557_6216135	6210656	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp1 HG02280.hp1 NA19240.hp1 HG02258.hp1 HG02280.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0002c0002t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 a0002c0002t0001g0033	3	440	0.0068	0	c.871 others(5): Show c.871+8T>G		C11orf42	ENSG00000180878.3	transcript	ENST00000316375.3	protein_coding	2/2					chr11	TogoVar
C11orf52_chr11_111913913_111931871	111924361	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(128): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01109.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02300.hp1 HG02523.hp2 HG02602.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp1 HG02886.hp1 HG02896.hp1 HG03017.hp2 HG03130.hp1 HG03209.hp2 HG03490.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04204.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19055.hp2 NA19059.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19081.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20805.hp2 NA21309.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0004 a0004c0005 a0002c0002 a0003c0004 a0004c0005	a0002c0002t0001 a0003c0004t0001 a0004c0005t0001 a0002c0002t0001 a0003c0004t0001 a0004c0005t0001	a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0009 others(13): Show a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0019 a0002c0002t0001g0027 a0002c0002t0001g0031 a0002c0002t0001g0049 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0061 a0003c0004t0001g0002 a0004c0005t0001g0051	131	356	0.3680	0	c.68C others(2): Show c.68C>G	p.Thr others(5): Show p.Thr23Arg	C11orf52	ENSG00000149300.10	transcript	ENST00000278601.6	protein_coding	2/4	128/1104	68/372	23/123		chr11	TogoVar
C11orf58_chr11_16733647_16763340	16748156	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0076 a0001c0002t0002g0076	1	384	0.0026	0	c.207 others(3): Show c.207C>T	p.Thr others(5): Show p.Thr69Thr	C11orf58	ENSG00000110696.10	transcript	ENST00000228136.9	protein_coding	3/5	339/3920	207/552	69/183		chr11	TogoVar
C11orf65_chr11_108377755_108472529	108382755	T T	C C	splice_region_variant splice_region_variant	LOW	HG01175.hp1 HG02257.hp1 HG02922.hp2 others(1): Show HG01175.hp1 HG02257.hp1 HG02922.hp2 HG03453.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0004c0007t0002 a0001c0001t0002 a0004c0007t0002	a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 others(1): Show a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0004c0007t0002g0055	4	330	0.0121	0	c.26 others(4): Show c.266A>G		C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	9/9					chr11	TogoVar
C11orf65_chr11_108377755_108472529	108467463	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01123.hp2 HG02602.hp2 HG02615.hp2 others(15): Show HG01123.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02965.hp2 HG02976.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03688.hp1 HG03942.hp2 NA18939.hp2 NA18992.hp1 NA19000.hp2 NA19030.hp1 NA19043.hp2 NA19058.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 others(15): Show a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328	18	330	0.0546	0	c.-10 others(5): Show c.-10+8A>G		C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	1/8					chr11	TogoVar
C11orf68_chr11_65911810_65924062	65916812	T T	C C	splice_region_variant splice_region_variant	LOW	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0017 a0002c0003t0012g0017	1	406	0.0025	0	c.64 others(4): Show c.647A>G		C11orf68	ENSG00000175573.7	transcript	ENST00000438576.3	protein_coding	2/2					chr11	TogoVar
C11orf80_chr11_66739769_66848516	66744924	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01515.hp2 HG03942.hp1 HG01515.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0001 a0001c0001t0003g0002	2	248	0.0081	0	c.-30 others(5): Show c.-30+5T>C		C11orf80	ENSG00000173715.19	transcript	ENST00000540737.7	protein_coding	1/14					chr11	TogoVar
C11orf97_chr11_94507461_94537123	94531877	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00642.hp1 HG01109.hp2 others(5): Show HG00280.hp1 HG00642.hp1 HG01109.hp2 HG01928.hp1 HG01934.hp1 HG01981.hp1 HG01993.hp1 HG02273.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0001 a0006c0006t0001 a0002c0002t0001 a0006c0006t0001	a0002c0002t0001g0014 a0002c0002t0001g0033 a0002c0002t0001g0102 others(1): Show a0002c0002t0001g0014 a0002c0002t0001g0033 a0002c0002t0001g0102 a0006c0006t0001g0136	8	434	0.0184	1	c.377 others(6): Show c.377-9dupT		C11orf97	ENSG00000257057.3	transcript	ENST00000542198.3	protein_coding	3/3				INFO_REALIGN_3_PRIME	chr11	TogoVar
C12orf40_chr12_39621183_39726914	39643781	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00642.hp1 HG00642.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0171 a0007c0012t0001g0171	1	360	0.0028	0	c.66A others(2): Show c.66A>C	p.Glu others(5): Show p.Glu22Asp	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	3/13	220/2776	66/1959	22/652		chr12	TogoVar
C12orf40_chr12_39621183_39726914	39643925	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(250): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011	a0001c0001 a0001c0007 a0002c0002 others(8): Show a0001c0001 a0001c0007 a0002c0002 a0003c0005 a0004c0004 a0005c0003 a0006c0006 a0007c0012 a0009c0008 a0010c0010 a0011c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0007t0001 a0002c0002t0001 a0003c0005t0001 a0004c0004t0001 a0004c0004t0005 a0005c0003t0001 a0006c0006t0001 a0007c0012t0001 a0009c0008t0001 a0010c0010t0001 a0011c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(237): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0339 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0004g0055 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0006g0033 a0001c0007t0001g0024 a0002c0002t0001g0007 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0090 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0313 a0003c0005t0001g0335 a0003c0005t0001g0336 a0004c0004t0001g0130 a0004c0004t0005g0135 a0005c0003t0001g0034 a0005c0003t0001g0035 a0006c0006t0001g0106 a0006c0006t0001g0333 a0007c0012t0001g0171 a0009c0008t0001g0068 a0010c0010t0001g0096 a0011c0011t0001g0073	253	360	0.7028	0	c.202 others(5): Show c.202+8A>G		C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	3/12					chr12	TogoVar
C12orf42_chr12_103296955_103500968	103478395	TCCCTTTG others(71): Show TCCCTTTGTTTCATACATATCACTGTAGACATTAATTTGACAAGTTCAAC TCCCTATAAACAAAGAATGGAGAAAGAAG	T T	frameshift_variant others(2): Show frameshift_variant start_lost splice_region_variant	HIGH	HG03490.hp1 HG03490.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0008 a0007c0008t0008	a0007c0008t0008g0101 a0007c0008t0008g0101	1	262	0.0038	-78	c.-21 others(87): Show c.-21-26_31delCTTCTTTCTCCATTCTTTGTTTATAGGGAGTTGAAC TTGTCAAATTAATGTCTACAGTGATATGTATGAAACAAAGGG	p.Met others(3): Show p.Met1fs	C12orf42	ENSG00000179088.16	transcript	ENST00000548883.6	protein_coding	2/6	119/1324	1/1083	1/360		chr12	TogoVar
C12orf4_chr12_4482735_4543469	4505379	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01358.hp1 HG02572.hp1 HG02723.hp1 others(6): Show HG01358.hp1 HG02572.hp1 HG02723.hp1 HG02895.hp1 HG02922.hp2 HG03225.hp2 HG03516.hp2 HG03540.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0014 a0001c0002t0001 a0001c0002t0008 a0001c0002t0014	a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 others(6): Show a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0008g0039 a0001c0002t0008g0174 a0001c0002t0008g0176 a0001c0002t0014g0175	9	220	0.0409	0	c.116 others(4): Show c.1164T>C	p.Asp others(6): Show p.Asp388Asp	C12orf4	ENSG00000047621.12	transcript	ENST00000261250.8	protein_coding	10/14	1250/3817	1164/1659	388/552		chr12	TogoVar
C12orf50_chr12_87975035_88034401	88029312	TCTTAAAG others(192): Show TCTTAAAGACATTTAAATTAGAAGATACCTTCTCTAGCTTTGCAGAAACG CTGAAAGTGGTTGCTAGTAAGCACACAAACTCAAACTTCTAGAATTTTCC TCATTGTTACCTAATCCATTGTTTGCTCATCATAAATGACCTCACATGTA ACTGCAGGCCAATGTTCACTCAGGTAAACTACAGTTTACCTGAGTGAACA	T T	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0032	1	272	0.0037	-199	c.-28 others(12): Show c.-280_-109+27del		C12orf50	ENSG00000165805.10	transcript	ENST00000298699.7	protein_coding	1/13					chr12	TogoVar
C12orf56_chr12_64259762_64395758	64274896	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	312	0.0032	0	c.158 others(6): Show c.1584+5G>A		C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	11/12					chr12	TogoVar
C12orf56_chr12_64259762_64395758	64331035	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00408.hp1 HG00423.hp1 others(136): Show HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18965.hp1 NA18969.hp2 NA18970.hp2 NA18974.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0006	a0002c0002 a0002c0005 a0002c0009 others(4): Show a0002c0002 a0002c0005 a0002c0009 a0003c0004 a0003c0012 a0005c0013 a0006c0014	a0002c0002t0001 a0002c0002t0003 a0002c0002t0009 others(14): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0009 a0002c0002t0010 a0002c0002t0018 a0002c0005t0005 a0002c0005t0006 a0002c0005t0013 a0002c0005t0015 a0002c0009t0002 a0002c0009t0012 a0003c0004t0001 a0003c0004t0003 a0003c0004t0011 a0003c0012t0002 a0005c0013t0001 a0006c0014t0001	a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(136): Show a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0018 a0002c0002t0001g0029 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0076 a0002c0002t0001g0117 a0002c0002t0001g0127 a0002c0002t0001g0134 a0002c0002t0001g0141 a0002c0002t0001g0150 a0002c0002t0001g0153 a0002c0002t0001g0156 a0002c0002t0001g0159 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0172 a0002c0002t0001g0177 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0189 a0002c0002t0001g0202 a0002c0002t0001g0204 a0002c0002t0001g0214 a0002c0002t0001g0221 a0002c0002t0001g0258 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0003g0010 a0002c0002t0003g0011 a0002c0002t0003g0014 a0002c0002t0003g0020 a0002c0002t0003g0045 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0062 a0002c0002t0003g0064 a0002c0002t0003g0072 a0002c0002t0003g0073 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0116 a0002c0002t0003g0151 a0002c0002t0003g0197 a0002c0002t0003g0207 a0002c0002t0003g0208 a0002c0002t0003g0218 a0002c0002t0003g0219 a0002c0002t0003g0232 a0002c0002t0009g0002 a0002c0002t0010g0003 a0002c0002t0018g0309 a0002c0005t0005g0145 a0002c0005t0005g0157 a0002c0005t0005g0179 a0002c0005t0005g0180 a0002c0005t0005g0185 a0002c0005t0005g0186 a0002c0005t0005g0263 a0002c0005t0005g0264 a0002c0005t0005g0274 a0002c0005t0005g0282 a0002c0005t0005g0288 a0002c0005t0005g0308 a0002c0005t0006g0173 a0002c0005t0006g0178 a0002c0005t0013g0121 a0002c0005t0015g0124 a0002c0009t0002g0149 a0002c0009t0002g0290 a0002c0009t0012g0168 a0003c0004t0001g0009 a0003c0004t0001g0080 a0003c0004t0001g0102 a0003c0004t0001g0109 a0003c0004t0001g0192 a0003c0004t0001g0249 a0003c0004t0001g0250 a0003c0004t0001g0251 a0003c0004t0001g0254 a0003c0004t0001g0265 a0003c0004t0001g0266 a0003c0004t0001g0272 a0003c0004t0001g0287 a0003c0004t0001g0301 a0003c0004t0001g0303 a0003c0004t0003g0036 a0003c0004t0003g0075 a0003c0004t0003g0093 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0098 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0003g0105 a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0108 a0003c0004t0003g0110 a0003c0004t0003g0111 a0003c0004t0003g0113 a0003c0004t0003g0114 a0003c0004t0003g0154 a0003c0004t0003g0158 a0003c0004t0003g0195 a0003c0004t0003g0209 a0003c0004t0003g0245 a0003c0004t0003g0256 a0003c0004t0003g0259 a0003c0004t0003g0261 a0003c0004t0003g0262 a0003c0004t0003g0273 a0003c0004t0003g0275 a0003c0004t0003g0277 a0003c0004t0003g0279 a0003c0004t0003g0280 a0003c0004t0003g0283 a0003c0004t0003g0285 a0003c0004t0003g0299 a0003c0004t0003g0300 a0003c0004t0003g0302 a0003c0004t0011g0004 a0003c0012t0002g0123 a0005c0013t0001g0187 a0006c0014t0001g0015	139	312	0.4455	1	c.416 others(6): Show c.416-4dupT		C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	2/12					chr12	TogoVar
C12orf57_chr12_6939022_6951002	6944473	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	427	0.0023	0	c.53- others(4): Show c.53-3C>T		C12orf57	ENSG00000111678.11	transcript	ENST00000229281.6	protein_coding	1/2					chr12	TogoVar
C12orf60_chr12_14798670_14829415	14803755	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0103 a0001c0004t0001g0103	1	388	0.0026	0	c.-25 others(5): Show c.-25+4C>T		C12orf60	ENSG00000182993.5	transcript	ENST00000330828.3	protein_coding	1/1					chr12	TogoVar
C12orf76_chr12_110036177_110053522	110041179	G G	A A	splice_region_variant splice_region_variant	LOW	HG01168.hp1 HG01243.hp2 HG02109.hp2 others(5): Show HG01168.hp1 HG01243.hp2 HG02109.hp2 HG02818.hp1 HG03453.hp1 HG03486.hp1 HG03579.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0008 a0002c0002t0004g0059 a0002c0002t0004g0008 a0002c0002t0004g0059	8	356	0.0225	0	c.11 others(5): Show c.1195C>T		C12orf76	ENSG00000174456.16	transcript	ENST00000615315.2	protein_coding	2/2					chr12	TogoVar
C13orf42_chr13_51077119_51116274	51084328	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp2 HG01167.hp1 HG01169.hp1 others(11): Show HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01975.hp1 HG02109.hp2 HG02280.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02895.hp2 HG02896.hp1 HG03209.hp2 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0006 a0001c0001t0010	a0001c0001t0006g0040 a0001c0001t0006g0047 a0001c0001t0006g0061 others(5): Show a0001c0001t0006g0040 a0001c0001t0006g0047 a0001c0001t0006g0061 a0001c0001t0006g0125 a0001c0001t0006g0126 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0010g0037	14	452	0.0310	0	c.804 others(5): Show c.804-3T>A		C13orf42	ENSG00000226792.8	transcript	ENST00000563710.7	protein_coding	3/3					chr13	TogoVar
C13orf42_chr13_51077119_51116274	51085311	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01192.hp1 HG02723.hp1 HG03041.hp1 others(3): Show HG01192.hp1 HG02723.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0206 a0001c0001t0003g0254 others(1): Show a0001c0001t0003g0041 a0001c0001t0003g0206 a0001c0001t0003g0254 a0001c0001t0003g0256	6	452	0.0133	0	c.803 others(5): Show c.803+8C>T		C13orf42	ENSG00000226792.8	transcript	ENST00000563710.7	protein_coding	3/3					chr13	TogoVar
C13orf46_chr13_113948705_113979076	113967392	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp2 HG01070.hp2 HG01168.hp2 others(16): Show HG00738.hp2 HG01070.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01261.hp1 HG01358.hp2 HG02486.hp2 HG02738.hp1 HG03041.hp2 HG03098.hp2 HG03491.hp1 HG03492.hp2 HG03831.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0030 a0001c0001t0031 others(5): Show a0001c0001t0006 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0062 a0001c0001t0076 a0001c0001t0077	a0001c0001t0006g0005 a0001c0001t0006g0098 a0001c0001t0006g0099 others(9): Show a0001c0001t0006g0005 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0030g0097 a0001c0001t0030g0101 a0001c0001t0031g0033 a0001c0001t0032g0034 a0001c0001t0033g0095 a0001c0001t0033g0100 a0001c0001t0062g0187 a0001c0001t0076g0096 a0001c0001t0077g0188	19	414	0.0459	0	c.457 others(5): Show c.457-4G>A		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	4/6					chr13	TogoVar
C13orf46_chr13_113948705_113979076	113967393	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18954.hp2 NA18964.hp2 NA19000.hp2 others(2): Show NA18954.hp2 NA18964.hp2 NA19000.hp2 NA19067.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0172 a0001c0001t0002g0173 others(1): Show a0001c0001t0002g0050 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174	5	414	0.0121	0	c.457 others(5): Show c.457-5C>T		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	4/6					chr13	TogoVar
C14orf180_chr14_104574764_104595515	104580001	C C	A A	splice_region_variant splice_region_variant	LOW	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0001 a0001c0001t0031g0001	1	433	0.0023	0	c.-19 others(3): Show c.-19C>A		C14orf180	ENSG00000184601.11	transcript	ENST00000557649.6	protein_coding	1/5					chr14	TogoVar

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