Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
COL2A1_chr12_47967967_48009476	48008115	GAGAGAGA others(19): Show GAGAGAGAGAAAGAAAGAAAGGAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02135.hp1 HG04228.hp2 others(6): Show HG02132.hp1 HG02135.hp1 HG04228.hp2 NA18943.hp2 NA18971.hp2 NA18978.hp2 NA19060.hp2 NA19070.hp2 NA19079.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0004c0007 a0004c0015	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(3): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0004c0007t0001 a0004c0015t0001 a0004c0015t0006	a0001c0002t0001g0054 a0001c0003t0001g0262 a0001c0004t0001g0012 others(6): Show a0001c0002t0001g0054 a0001c0003t0001g0262 a0001c0004t0001g0012 a0001c0004t0001g0251 a0001c0004t0001g0255 a0004c0007t0001g0253 a0004c0007t0001g0263 a0004c0015t0001g0257 a0004c0015t0006g0258	9	358	0.0251	-26	c.-38 others(37): Show c.-3820_-3795delTTCTTCCTTTCTTTCTTTCTCTCTCT		COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding					3640		chr12	TogoVar
COL3A1_chr2_188969373_189017746	188980353	GAATTCTA others(19): Show GAATTCTAAAAGATTAATCTTTTAGAC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp1 HG01081.hp1 others(72): Show HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp2 HG02055.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG02976.hp1 HG03130.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp2 NA18941.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18963.hp2 NA18970.hp1 NA18972.hp2 NA18977.hp1 NA18991.hp1 NA18994.hp1 NA19002.hp1 NA19030.hp2 NA19077.hp2 NA19090.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0004t0001 a0001c0004t0002 a0001c0007t0001 a0002c0002t0001 a0003c0005t0002	a0001c0001t0001g0025 a0001c0001t0001g0128 a0001c0001t0001g0193 others(50): Show a0001c0001t0001g0025 a0001c0001t0001g0128 a0001c0001t0001g0193 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0129 a0001c0003t0001g0257 a0001c0003t0002g0007 a0001c0003t0002g0010 a0001c0003t0002g0013 a0001c0003t0002g0030 a0001c0003t0002g0049 a0001c0003t0002g0109 a0001c0003t0002g0202 a0001c0003t0002g0203 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0002g0258 a0001c0003t0004g0010 a0001c0003t0004g0110 a0001c0003t0004g0111 a0001c0003t0004g0112 a0001c0004t0001g0026 a0001c0004t0001g0029 a0001c0004t0001g0081 a0001c0004t0001g0082 a0001c0004t0001g0083 a0001c0004t0001g0144 a0001c0004t0001g0194 a0001c0004t0001g0195 a0001c0004t0001g0196 a0001c0004t0001g0197 a0001c0004t0001g0199 a0001c0004t0002g0015 a0001c0004t0002g0017 a0001c0004t0002g0040 a0001c0004t0002g0145 a0001c0004t0002g0146 a0001c0004t0002g0198 a0001c0007t0001g0087 a0001c0007t0001g0088 a0002c0002t0001g0259 a0002c0002t0001g0275 a0003c0005t0002g0016 a0003c0005t0002g0017 a0003c0005t0002g0023 a0003c0005t0002g0028 a0003c0005t0002g0066 a0003c0005t0002g0067 a0003c0005t0002g0068 a0003c0005t0002g0069 a0003c0005t0002g0070 a0003c0005t0002g0143	75	237	0.3165	-26	c.80- others(41): Show c.80-4311_80-4286delCTTTTAGACAATTCTAAAAGATTAAT		COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	1/50					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL3A1_chr2_188969373_189017746	189007096	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01081.hp2 others(37): Show HG00639.hp2 HG00738.hp2 HG01081.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp2 HG01261.hp1 HG01517.hp1 HG02027.hp1 HG02055.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03688.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA19030.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0004t0002 a0002c0002t0002	a0001c0001t0001g0186 a0001c0003t0001g0257 a0001c0003t0002g0007 others(24): Show a0001c0001t0001g0186 a0001c0003t0001g0257 a0001c0003t0002g0007 a0001c0003t0002g0010 a0001c0003t0002g0013 a0001c0003t0002g0030 a0001c0003t0002g0049 a0001c0003t0002g0084 a0001c0003t0002g0109 a0001c0003t0002g0202 a0001c0003t0002g0203 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0002g0207 a0001c0003t0002g0255 a0001c0003t0002g0256 a0001c0003t0002g0258 a0001c0003t0004g0010 a0001c0003t0004g0110 a0001c0003t0004g0111 a0001c0003t0004g0112 a0001c0004t0002g0015 a0002c0002t0002g0209 a0002c0002t0002g0224 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0273	40	102	0.3922	-26	c.325 others(43): Show c.3255+125_3255+150delATATATATATATATATATATATATAT		COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	44/50					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202890	TATATGTG others(19): Show TATATGTGTATATATGTGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01256.hp2 HG01934.hp1 others(4): Show HG00099.hp1 HG01256.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG02698.hp2 HG03710.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0002 a0004c0003 a0001c0001 a0003c0002 a0004c0003	a0001c0001t0001 a0003c0002t0003 a0004c0003t0019 a0001c0001t0001 a0003c0002t0003 a0004c0003t0019	a0001c0001t0001g0152 a0001c0001t0001g0193 a0001c0001t0001g0221 others(4): Show a0001c0001t0001g0152 a0001c0001t0001g0193 a0001c0001t0001g0221 a0003c0002t0003g0153 a0003c0002t0003g0219 a0003c0002t0003g0310 a0004c0003t0019g0159	7	339	0.0206	-26	c.88- others(43): Show c.88-35073_88-35048delGTGTATATATGTGTATATATACATAT		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203244	CATATATG others(19): Show CATATATGTATATATACATATATGTGT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18965.hp1 HG00423.hp2 NA18965.hp1	a0003 a0011 a0003 a0011	a0003c0002 a0011c0014 a0003c0002 a0011c0014	a0003c0002t0003 a0011c0014t0002 a0003c0002t0003 a0011c0014t0002	a0003c0002t0003g0264 a0011c0014t0002g0020 a0003c0002t0003g0264 a0011c0014t0002g0020	2	313	0.0064	-26	c.88- others(43): Show c.88-34715_88-34690delATATATACATATATGTGTATATATGT		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203475	GTATACAT others(19): Show GTATACATATGTGTGTATATGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03669.hp2 HG02738.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0189 a0001c0001t0001g0155 a0001c0001t0001g0189	2	299	0.0067	-26	c.88- others(43): Show c.88-34483_88-34458delGTGTGTATATGTGTATATATACATAT		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A5_chrX_108434838_108702545	108526652	CTTTCTTT others(19): Show CTTTCTTTCTTCTTTCTTTCTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0187 a0001c0001t0008g0187	1	259	0.0039	-26	c.82- others(43): Show c.82-13091_82-13066delTCTTTCTTCTTTCTTTCTCTTTCTTT		COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52					INFO_REALIGN_3_PRIME	chrX	TogoVar
COL5A1_chr9_134636803_134849843	134748087	GCACAGAC others(19): Show GCACAGACATGCATCCACACATGCATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(77): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01952.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp2 HG02257.hp2 HG02273.hp2 HG02300.hp2 HG02559.hp2 HG02572.hp1 HG02723.hp1 HG02735.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18983.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19057.hp1 NA19068.hp1 NA19070.hp2 NA19080.hp2 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0011 a0014	a0001c0001 a0001c0002 a0001c0003 others(26): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0016 a0001c0019 a0001c0023 a0001c0025 a0001c0039 a0001c0045 a0001c0050 a0001c0060 a0001c0065 a0002c0013 a0002c0042 a0003c0020 a0003c0021 a0003c0038 a0003c0059 a0005c0040 a0006c0063 a0011c0043 a0014c0053	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0059 a0001c0002t0042 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0015 a0001c0003t0049 a0001c0004t0002 a0001c0004t0004 a0001c0004t0011 a0001c0004t0018 a0001c0005t0022 a0001c0008t0002 a0001c0010t0026 a0001c0011t0001 a0001c0012t0004 a0001c0012t0039 a0001c0012t0051 a0001c0014t0002 a0001c0016t0001 a0001c0016t0012 a0001c0016t0046 a0001c0019t0001 a0001c0023t0001 a0001c0023t0002 a0001c0025t0008 a0001c0025t0015 a0001c0039t0004 a0001c0045t0004 a0001c0050t0004 a0001c0060t0004 a0001c0065t0003 a0002c0013t0003 a0002c0013t0021 a0002c0042t0002 a0003c0020t0001 a0003c0021t0001 a0003c0038t0001 a0003c0059t0040 a0005c0040t0009 a0006c0063t0002 a0011c0043t0043 a0014c0053t0029	a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0002g0023 others(77): Show a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0002g0023 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0081 a0001c0001t0002g0115 a0001c0001t0002g0122 a0001c0001t0002g0139 a0001c0001t0002g0165 a0001c0001t0002g0220 a0001c0001t0002g0227 a0001c0001t0002g0243 a0001c0001t0003g0133 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0005g0155 a0001c0001t0005g0249 a0001c0001t0009g0233 a0001c0001t0011g0229 a0001c0001t0059g0095 a0001c0002t0042g0190 a0001c0003t0001g0153 a0001c0003t0001g0188 a0001c0003t0001g0206 a0001c0003t0001g0222 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0002g0142 a0001c0003t0002g0246 a0001c0003t0003g0201 a0001c0003t0004g0262 a0001c0003t0004g0266 a0001c0003t0005g0070 a0001c0003t0008g0078 a0001c0003t0008g0186 a0001c0003t0015g0189 a0001c0003t0049g0158 a0001c0004t0002g0046 a0001c0004t0004g0224 a0001c0004t0011g0080 a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0005t0022g0086 a0001c0008t0002g0092 a0001c0010t0026g0049 a0001c0011t0001g0193 a0001c0011t0001g0205 a0001c0012t0004g0112 a0001c0012t0039g0230 a0001c0012t0051g0085 a0001c0014t0002g0066 a0001c0014t0002g0067 a0001c0014t0002g0161 a0001c0016t0001g0022 a0001c0016t0012g0021 a0001c0016t0046g0020 a0001c0019t0001g0214 a0001c0023t0001g0014 a0001c0023t0002g0113 a0001c0025t0008g0202 a0001c0025t0015g0007 a0001c0039t0004g0197 a0001c0045t0004g0104 a0001c0050t0004g0034 a0001c0060t0004g0240 a0001c0065t0003g0009 a0002c0013t0003g0076 a0002c0013t0021g0071 a0002c0042t0002g0234 a0003c0020t0001g0120 a0003c0020t0001g0121 a0003c0021t0001g0157 a0003c0021t0001g0166 a0003c0038t0001g0136 a0003c0059t0040g0194 a0005c0040t0009g0191 a0006c0063t0002g0072 a0011c0043t0043g0037 a0014c0053t0029g0134	80	270	0.2963	-26	c.149 others(45): Show c.1495-2424_1495-2399delGACATGCATCCACACATGCATACACA		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	11/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134792850	CGCACACG others(19): Show CGCACACGTGTGTGTGCGCGCGTTTGT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02109.hp2 HG01099.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0065 a0001c0001 a0001c0065	a0001c0001t0001 a0001c0065t0003 a0001c0001t0001 a0001c0065t0003	a0001c0001t0001g0125 a0001c0065t0003g0009 a0001c0001t0001g0125 a0001c0065t0003g0009	2	269	0.0074	-26	c.270 others(45): Show c.2701-2209_2701-2184delTTGTGCACACGTGTGTGTGCGCGCGT		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	32/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A3_chr19_9954561_10015504	9964854	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG02717.hp2 others(3): Show HG01891.hp1 HG02280.hp1 HG02717.hp2 HG02886.hp2 HG02896.hp2 NA20300.hp1	a0007 a0015 a0007 a0015	a0007c0022 a0015c0064 a0007c0022 a0015c0064	a0007c0022t0007 a0007c0022t0011 a0015c0064t0001 a0007c0022t0007 a0007c0022t0011 a0015c0064t0001	a0007c0022t0007g0001 a0007c0022t0007g0187 a0007c0022t0007g0188 others(2): Show a0007c0022t0007g0001 a0007c0022t0007g0187 a0007c0022t0007g0188 a0007c0022t0011g0184 a0015c0064t0001g0203	6	18	0.3333	-26	c.478 others(45): Show c.4782+1434_4782+1459delTTTTTTTTTTTTTTTTTTTTTTTTTT		COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	64/66						chr19	TogoVar
COL5A3_chr19_9954561_10015504	9969393	CTGGTTCA others(19): Show CTGGTTCACCCTGAGAATGGAACAGAA	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA19087.hp1 NA19087.hp1	a0075 a0075	a0075c0123 a0075c0123	a0075c0123t0001 a0075c0123t0001	a0075c0123t0001g0393 a0075c0123t0001g0393	1	410	0.0024	-26	c.409 others(38): Show c.4099-17_4107delTTCTGTTCCATTCTCAGGGTGAACCA	p.Gly others(15): Show p.Gly1367_Gly1370del	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	57/67	4226/6207	4099/5238	1367/1745			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9994559	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01099.hp1 HG01934.hp2 others(1): Show HG01069.hp2 HG01099.hp1 HG01934.hp2 HG03209.hp2	a0009 a0031 a0009 a0031	a0009c0007 a0031c0085 a0031c0122 a0009c0007 a0031c0085 a0031c0122	a0009c0007t0001 a0031c0085t0012 a0031c0122t0001 a0009c0007t0001 a0031c0085t0012 a0031c0122t0001	a0009c0007t0001g0394 a0009c0007t0001g0395 a0031c0085t0012g0403 others(1): Show a0009c0007t0001g0394 a0009c0007t0001g0395 a0031c0085t0012g0403 a0031c0122t0001g0189	4	60	0.0667	-26	c.158 others(43): Show c.1588-779_1588-754delATATATATATATATATATATATATAT		COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	16/66						chr19	TogoVar
COL6A1_chr21_45976770_46010048	45980312	TAAAGGTT others(19): Show TAAAGGTTTTTTCAAATGTTTCTTTAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	125	0.0080	-26	c.-15 others(37): Show c.-1538_-1513delAAAGGTTTTTTCAAATGTTTCTTTAA		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding					1457		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332070	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0131 a0005c0008t0003g0131	1	194	0.0052	-26	c.932 others(45): Show c.9328+1354_9328+1379delATATATATATATATATATATATATAT		COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43						chr2	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01074.hp1 HG01071.hp1 HG01074.hp1	a0002 a0008 a0002 a0008	a0002c0001 a0008c0010 a0002c0001 a0008c0010	a0002c0001t0001 a0008c0010t0001 a0002c0001t0001 a0008c0010t0001	a0002c0001t0001g0250 a0008c0010t0001g0210 a0002c0001t0001g0250 a0008c0010t0001g0210	2	42	0.0476	-26	c.766 others(43): Show c.7668+810_7668+835delTTTTTTTTTTTTTTTTTTTTTTTTTT		COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43						chr2	TogoVar
COL6A5_chr3_130340672_130489846	130362306	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02615.hp2 NA19060.hp2 others(1): Show HG01943.hp1 HG02615.hp2 NA19060.hp2 NA19091.hp2	a0008 a0009 a0032 others(1): Show a0008 a0009 a0032 a0089	a0008c0010 a0009c0007 a0032c0030 others(1): Show a0008c0010 a0009c0007 a0032c0030 a0089c0045	a0008c0010t0001 a0009c0007t0009 a0032c0030t0001 others(1): Show a0008c0010t0001 a0009c0007t0009 a0032c0030t0001 a0089c0045t0001	a0008c0010t0001g0119 a0009c0007t0009g0160 a0032c0030t0001g0120 others(1): Show a0008c0010t0001g0119 a0009c0007t0009g0160 a0032c0030t0001g0120 a0089c0045t0001g0118	4	193	0.0207	-26	c.-28 others(45): Show c.-28-11303_-28-11278delATATATATATATATATATATTTTTTT		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130362308	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02896.hp2 HG00639.hp1 HG02896.hp2	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0003 a0016c0017t0003	a0016c0017t0003g0274 a0016c0017t0003g0275 a0016c0017t0003g0274 a0016c0017t0003g0275	2	266	0.0075	-26	c.-28 others(45): Show c.-28-11301_-28-11276delATATATATATATATATATTTTTTTTT		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130531015	TACACACA others(19): Show TACACACACACACACACACACACAGAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG02129.hp2 others(1): Show HG00408.hp1 HG00621.hp2 HG02129.hp2 NA18966.hp2	a0007 a0010 a0011 others(1): Show a0007 a0010 a0011 a0030	a0007c0018 a0010c0016 a0011c0008 others(1): Show a0007c0018 a0010c0016 a0011c0008 a0030c0066	a0007c0018t0003 a0010c0016t0001 a0011c0008t0001 others(1): Show a0007c0018t0003 a0010c0016t0001 a0011c0008t0001 a0030c0066t0003	a0007c0018t0003g0015 a0010c0016t0001g0113 a0011c0008t0001g0130 others(1): Show a0007c0018t0003g0015 a0010c0016t0001g0113 a0011c0008t0001g0130 a0030c0066t0003g0175	4	134	0.0299	-26	c.-32 others(45): Show c.-32+13638_-32+13663delCACAGACACACACACACACACACACA		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130531036	ACAGACAC others(19): Show ACAGACACACACACACACACACACAGT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0048 a0048	a0048c0080 a0048c0080	a0048c0080t0001 a0048c0080t0001	a0048c0080t0001g0020 a0048c0080t0001g0020	1	261	0.0038	-26	c.-32 others(45): Show c.-32+13641_-32+13666delAGACACACACACACACACACACAGTC		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590275	ATATATAT others(19): Show ATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0027 a0008c0006t0027	a0008c0006t0027g0232 a0008c0006t0027g0232	1	262	0.0038	-26	c.421 others(43): Show c.4219-764_4219-739delATATATATATATATATATATATATTT		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590279	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0025 a0025	a0025c0031 a0025c0031	a0025c0031t0012 a0025c0031t0012	a0025c0031t0012g0025 a0025c0031t0012g0025	1	254	0.0039	-26	c.421 others(43): Show c.4219-760_4219-735delATATATATATATATATATATTTTTTT		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL7A1_chr3_48559073_48600329	48559898	CCACACAC others(19): Show CCACACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG01884.hp1 others(47): Show HG00544.hp2 HG00609.hp1 HG01884.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02129.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18946.hp2 NA18951.hp1 NA18954.hp1 NA18979.hp1 NA19000.hp2 NA19012.hp2 NA19030.hp1 NA19065.hp2 NA19070.hp2 NA19079.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA20300.hp1 NA20752.hp1 NA21309.hp1	a0001 a0008 a0009 others(2): Show a0001 a0008 a0009 a0014 a0021	a0001c0001 a0001c0022 a0001c0028 others(4): Show a0001c0001 a0001c0022 a0001c0028 a0008c0008 a0009c0015 a0014c0020 a0021c0024	a0001c0001t0001 a0001c0022t0001 a0001c0028t0001 others(4): Show a0001c0001t0001 a0001c0022t0001 a0001c0028t0001 a0008c0008t0001 a0009c0015t0001 a0014c0020t0001 a0021c0024t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(22): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0022t0001g0044 a0001c0028t0001g0101 a0008c0008t0001g0031 a0009c0015t0001g0062 a0014c0020t0001g0045 a0021c0024t0001g0088	50	79	0.6329	-26	c.44 others(37): Show c.4482_*4507delTGTGTGTGTGTGTGTGTGTGTGTGTG		COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding					4174		chr3	TogoVar
COL7A1_chr3_48559073_48600329	48574077	CCACACAC others(19): Show CCACACACAGACACAGGCACACACAGG	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03669.hp2 HG02074.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0048 a0001c0002t0001g0052 a0001c0001t0001g0048 a0001c0002t0001g0052	2	234	0.0085	-26	c.650 others(43): Show c.6501+159_6501+184delCCTGTGTGTGCCTGTGTCTGTGTGTG		COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding	80/118						chr3	TogoVar
COLEC11_chr2_3590112_3649644	3627347	GGGCATGA others(19): Show GGGCATGATGATGCTGGGCAAGATGAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01106.hp2 others(61): Show HG00099.hp1 HG00140.hp1 HG01106.hp2 HG01123.hp2 HG01243.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02040.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03688.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19004.hp1 NA19005.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(6): Show a0001c0001 a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0006 a0003c0009 a0003c0010 a0003c0012	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(6): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0002c0004t0001 a0002c0005t0001 a0002c0006t0001 a0003c0009t0001 a0003c0010t0001 a0003c0012t0001	a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0134 others(57): Show a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0134 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0316 a0001c0001t0001g0321 a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0027 a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0001g0043 a0002c0002t0001g0061 a0002c0002t0001g0064 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0204 a0002c0002t0001g0206 a0002c0002t0001g0212 a0002c0002t0001g0215 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0298 a0002c0002t0001g0306 a0002c0002t0001g0309 a0002c0002t0001g0314 a0002c0002t0001g0337 a0002c0002t0001g0359 a0002c0003t0001g0005 a0002c0003t0001g0024 a0002c0003t0001g0039 a0002c0003t0001g0050 a0002c0003t0001g0052 a0002c0003t0001g0184 a0002c0003t0001g0195 a0002c0003t0001g0274 a0002c0004t0001g0213 a0002c0004t0001g0229 a0002c0004t0001g0244 a0002c0004t0001g0261 a0002c0004t0001g0282 a0002c0004t0001g0285 a0002c0004t0001g0313 a0002c0004t0001g0318 a0002c0004t0001g0322 a0002c0005t0001g0358 a0002c0006t0001g0198 a0002c0006t0001g0311 a0003c0009t0001g0352 a0003c0010t0001g0353 a0003c0012t0001g0354	64	376	0.1702	-26	c.203 others(45): Show c.203-10179_203-10154delATGATGCTGGGCAAGATGATGGCATG		COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62014542	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG04115.hp2 HG01258.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0030 a0001c0001t0001g0031	2	4	0.5000	-26	c.462 others(45): Show c.462+13572_462+13597delTTTTTTTTTTTTTTTTTTTTTTTTTT		COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr2	TogoVar
COP1_chr1_175939831_176212286	175997040	CCAAAACA others(19): Show CCAAAACAGAGATATAGATCAATGGAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01243.hp1 NA19043.hp2 HG01069.hp2 HG01243.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0250 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0250	3	298	0.0101	-26	c.173 others(45): Show c.1730-7587_1730-7562delTTCCATTGATCTATATCTCTGTTTTG		COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	15/19						chr1	TogoVar
COPG2_chr7_130501238_130673748	130513349	GTGTGTGT others(19): Show GTGTGTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01167.hp2 HG01175.hp2 others(20): Show HG00140.hp2 HG01167.hp2 HG01175.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG02004.hp2 HG02145.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG03516.hp1 HG03831.hp2 HG04184.hp2 NA18522.hp1 NA18957.hp2 NA18962.hp1 NA19003.hp2 NA19009.hp1 NA19081.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0150 a0001c0001t0002g0156 a0001c0001t0002g0157 others(20): Show a0001c0001t0002g0150 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0216 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0260 a0001c0001t0006g0149 a0001c0001t0006g0164 a0001c0001t0006g0202 a0001c0001t0006g0226	23	324	0.0710	-26	c.215 others(45): Show c.2150-4716_2150-4691delTATATATATATATATACACACACACA		COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23						chr7	TogoVar
COPG2_chr7_130501238_130673748	130646973	ATATATAT others(19): Show ATATATATATGTATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00544.hp2 others(85): Show HG00140.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18522.hp1 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18967.hp1 NA18978.hp2 NA18980.hp1 NA18983.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19043.hp1 NA19054.hp1 NA19058.hp2 NA19062.hp1 NA19066.hp2 NA19070.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp2 NA19091.hp1 NA20300.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0006 a0001c0012 others(1): Show a0001c0001 a0001c0006 a0001c0012 a0010c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0006t0002 a0001c0012t0002 a0010c0009t0002	a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0002g0026 others(85): Show a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0260 a0001c0001t0006g0149 a0001c0001t0006g0164 a0001c0001t0006g0170 a0001c0001t0006g0178 a0001c0001t0006g0184 a0001c0001t0006g0202 a0001c0001t0006g0215 a0001c0001t0006g0226 a0001c0001t0012g0201 a0001c0006t0002g0153 a0001c0006t0002g0154 a0001c0012t0002g0161 a0010c0009t0002g0217	88	322	0.2733	-26	c.323 others(43): Show c.323+5870_323+5895delCACATATATATATATACATATATATA		COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	5/23						chr7	TogoVar
COPS5_chr8_67038079_67067133	67041962	TACACATA others(19): Show TACACATACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0156	1	285	0.0035	-26	c.12 others(37): Show c.1245_*1270delGTGTGTGTGTGTGTGTGTGTATGTGT		COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding					1116		chr8	TogoVar
COPS5_chr8_67038079_67067133	67041968	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	64	0.0156	-26	c.12 others(37): Show c.1239_*1264delGTGTGTGTGTGTGTGTGTGTGTGTGT		COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding					1110		chr8	TogoVar
COPS5_chr8_67038079_67067133	67056652	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	207	0.0048	-26	c.574 others(39): Show c.574-74_574-49delATATATATATATATATATATATATAT		COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7						chr8	TogoVar
COPS5_chr8_67038079_67067133	67056686	TATATATA others(19): Show TATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	281	0.0036	-26	c.574 others(40): Show c.574-108_574-83delTTATATATATATATATATATATATAT		COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7						chr8	TogoVar
COQ3_chr6_99364401_99399195	99378135	TATATATA others(19): Show TATATATATATATATATATATATTTAG	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02155.hp2 NA18946.hp2 others(3): Show HG02083.hp1 HG02155.hp2 NA18946.hp2 NA18980.hp1 NA19003.hp1 NA19091.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0002 a0003c0003t0003 a0002c0002t0001 a0002c0002t0002 a0003c0003t0003	a0002c0002t0001g0001 a0002c0002t0002g0007 a0003c0003t0003g0003 others(2): Show a0002c0002t0001g0001 a0002c0002t0002g0007 a0003c0003t0003g0003 a0003c0003t0003g0153 a0003c0003t0003g0155	6	431	0.0139	-26	c.387 others(41): Show c.387-676_387-651delCTAAATATATATATATATATATATAT		COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	3/6						chr6	TogoVar
COQ8A_chr1_226935294_226992544	226944724	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG01243.hp2 others(3): Show HG00140.hp1 HG00408.hp1 HG01243.hp2 HG02976.hp2 NA18975.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0003	a0001c0001t0001g0051 a0001c0001t0002g0013 a0001c0001t0002g0060 others(3): Show a0001c0001t0001g0051 a0001c0001t0002g0013 a0001c0001t0002g0060 a0001c0001t0002g0139 a0001c0001t0004g0043 a0001c0003t0003g0091	6	398	0.0151	-26	c.-10 others(43): Show c.-10+4339_-10+4364delAGAGAGAGAGAGTGAGAGAGAGAGAG		COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
CORO1B_chr11_67430510_67448476	67439660	CTGTCCAG others(19): Show CTGTCCAGCTCACTGCCCACAAACCAT	C C	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0030 a0001c0001t0007g0030	1	352	0.0028	-26	c.106 others(43): Show c.1065+100_1065+125delATGGTTTGTGGGCAGTGAGCTGGACA		CORO1B	ENSG00000172725.14	transcript	ENST00000341356.10	protein_coding	9/10						chr11	TogoVar
CORO2A_chr9_98115975_98197637	98172190	ACACCCCA others(19): Show ACACCCCACTTCTGAGCTCGGCACCCC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03453.hp1 HG02965.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0285 a0001c0001t0003g0282 a0001c0001t0001g0285 a0001c0001t0003g0282	2	340	0.0059	-26	c.1-1 others(41): Show c.1-14556_1-14531delGGGGTGCCGAGCTCAGAAGTGGGGTG		CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	1/11						chr9	TogoVar
CORO2B_chr15_68573993_68732806	68580372	TCAGATGG others(19): Show TCAGATGGAGGGTCAGAGCAGTGGGGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(165): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0008 a0003c0007 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0003t0006 a0001c0003t0008 a0001c0003t0011 a0001c0004t0005 a0001c0004t0007 a0001c0005t0003 a0002c0008t0002 a0003c0007t0006 a0004c0006t0002	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 others(165): Show a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0228 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0091 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0102 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0135 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0167 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0086 a0001c0001t0003g0111 a0001c0001t0003g0116 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0150 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0163 a0001c0001t0003g0171 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0217 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0235 a0001c0001t0003g0239 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0004g0092 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0106 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0112 a0001c0001t0004g0117 a0001c0001t0004g0119 a0001c0001t0004g0129 a0001c0001t0004g0134 a0001c0001t0004g0141 a0001c0001t0004g0180 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0205 a0001c0001t0004g0207 a0001c0001t0004g0216 a0001c0001t0004g0229 a0001c0001t0004g0240 a0001c0001t0005g0113 a0001c0001t0005g0131 a0001c0001t0005g0164 a0001c0001t0005g0166 a0001c0001t0005g0194 a0001c0001t0005g0196 a0001c0001t0005g0208 a0001c0001t0006g0191 a0001c0001t0006g0218 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0007g0151 a0001c0001t0007g0162 a0001c0001t0007g0193 a0001c0001t0007g0232 a0001c0001t0009g0238 a0001c0001t0015g0222 a0001c0001t0019g0201 a0001c0001t0020g0203 a0001c0001t0023g0209 a0001c0001t0024g0120 a0001c0001t0025g0149 a0001c0002t0001g0006 a0001c0002t0001g0188 a0001c0002t0001g0206 a0001c0002t0002g0099 a0001c0002t0002g0142 a0001c0002t0002g0152 a0001c0002t0002g0170 a0001c0002t0002g0177 a0001c0002t0002g0224 a0001c0002t0002g0230 a0001c0002t0003g0107 a0001c0002t0003g0198 a0001c0002t0003g0256 a0001c0002t0006g0137 a0001c0002t0006g0223 a0001c0002t0006g0248 a0001c0003t0006g0145 a0001c0003t0008g0178 a0001c0003t0011g0247 a0001c0004t0005g0233 a0001c0004t0007g0172 a0001c0005t0003g0130 a0001c0005t0003g0210 a0002c0008t0002g0093 a0003c0007t0006g0186 a0004c0006t0002g0136	168	254	0.6614	-26	c.15+ others(41): Show c.15+1108_15+1133delCAGAGCAGTGGGGCCAGATGGAGGGT		CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
CORO2B_chr15_68573993_68732806	68650356	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03516.hp1 NA18522.hp2 HG03130.hp2 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0196 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0196	3	91	0.0330	-26	c.216 others(43): Show c.216+5021_216+5046delAAAAAAAAAAAAAAAAAAAAAAAAAA		CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
COX11_chr17_54955422_54973654	54967038	GCGCGCAC others(19): Show GCGCGCACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp2 others(84): Show HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG01074.hp1 HG01175.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG03041.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18955.hp1 NA18960.hp2 NA18962.hp2 NA18968.hp2 NA18973.hp2 NA18975.hp2 NA18982.hp2 NA18983.hp2 NA18991.hp1 NA19002.hp1 NA19004.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp2 NA19056.hp1 NA19057.hp1 NA19063.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19084.hp1 NA19088.hp2 NA19090.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0001t0002 a0001c0001t0012 a0001c0001t0013	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0012 others(22): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0025 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0069 a0001c0001t0002g0093 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0012g0111 a0001c0001t0013g0112	87	428	0.2033	-26	c.366 others(43): Show c.366+1217_366+1242delTGTGTGTGTGTGTGTGTGTGTGCGCG		COX11	ENSG00000166260.13	transcript	ENST00000299335.8	protein_coding	1/3						chr17	TogoVar
COX16_chr14_70320081_70364683	70363791	TTCTGGAA others(19): Show TTCTGGAAAAACAAATGAAATGACAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	374	0.0027	-26	c.-42 others(37): Show c.-4230_-4205delCCTGTCATTTCATTTGTTTTTCCAGA		COX16	ENSG00000133983.16	transcript	ENST00000389912.7	protein_coding					4109		chr14	TogoVar
CPA6_chr8_67417038_67751360	67472369	TTTATTTT others(19): Show TTTATTTTTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01884.hp1 HG02145.hp2 others(14): Show HG01069.hp2 HG01884.hp1 HG02145.hp2 HG02258.hp2 HG02559.hp2 HG02615.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03453.hp2 HG03540.hp1 NA18906.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0010	a0001c0001 a0002c0002 a0008c0009 others(1): Show a0001c0001 a0002c0002 a0008c0009 a0010c0008	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0008c0009t0004 a0010c0008t0001	a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0066 others(14): Show a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0004g0094 a0002c0002t0001g0065 a0002c0002t0001g0130 a0008c0009t0004g0110 a0010c0008t0001g0124	17	113	0.1504	-26	c.838 others(45): Show c.838+11373_838+11398delTAAAATAAAATAAAATAAAAAAATAA		CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10						chr8	TogoVar
CPA6_chr8_67417038_67751360	67507999	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01891.hp1 HG02055.hp1 others(22): Show HG00423.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02280.hp1 HG02622.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp1 HG06807.hp1 NA18946.hp1 NA18952.hp2 NA18998.hp2 NA19085.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0007 a0001c0001 a0002c0002 a0009c0007	a0001c0001t0001 a0002c0002t0001 a0009c0007t0001 a0001c0001t0001 a0002c0002t0001 a0009c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(22): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0002c0002t0001g0008 a0002c0002t0001g0021 a0002c0002t0001g0029 a0002c0002t0001g0062 a0002c0002t0001g0064 a0009c0007t0001g0132	25	46	0.5435	-26	c.535 others(43): Show c.535-1137_535-1112delCACACACACACACACACACACACACA		CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	5/10						chr8	TogoVar
CPD_chr17_30373927_30474989	30470256	CGTGTGTG others(19): Show CGTGTGTGTATGTATATGTATATACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	153	0.0065	-26	c.54 others(37): Show c.5443_*5468delGTGTGTGTATGTATATGTATATACAT		CPD	ENSG00000108582.12	transcript	ENST00000225719.9	protein_coding					268		chr17	TogoVar
CPED1_chr7_120983711_121302442	121129286	TGTATATA others(19): Show TGTATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03139.hp2 HG00642.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0047 a0002c0002t0001g0109 a0001c0001t0001g0047 a0002c0002t0001g0109	2	134	0.0149	-26	c.140 others(43): Show c.1408-815_1408-790delTACGTATATATATATATATATATATA		CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	11/22					INFO_REALIGN_3_PRIME	chr7	TogoVar
CPLANE1_chr5_37101235_37254376	37245297	CTATATAT others(19): Show CTATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01975.hp1 HG01069.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0258 a0001c0001t0001g0084 a0001c0001t0001g0258	2	9	0.2222	-26	c.337 others(41): Show c.337+156_337+181delTATATATATATATATATATATATATA		CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	4/52						chr5	TogoVar
CPLX1_chr4_779957_831129	781394	ACCGGGCC others(19): Show ACCGGGCCTCGGCGGCGCCCCTTCCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	414	0.0024	-26	c.50 others(37): Show c.5081_*5106delCAGGAAGGGGCGCCGCCGAGGCCCGG		CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding					3562		chr4	TogoVar
CPN2_chr3_194334768_194356328	194347626	CCAGCCCA others(19): Show CCAGCCCACCCCACCCTCTGCCCAGTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18906.hp2 HG03225.hp1 NA18906.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0012 a0003c0012t0012	a0003c0012t0012g0038 a0003c0012t0012g0038	2	411	0.0049	-26	c.-4+ others(41): Show c.-4+3590_-4+3615delAACTGGGCAGAGGGTGGGGTGGGCTG		CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	1/1						chr3	TogoVar
CPN2_chr3_194334768_194356328	194347665	TCCGCTGC others(19): Show TCCGCTGCCCAGTTCAGCCCACCCCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(292): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0008 a0014 a0015 a0017	a0001c0002 a0001c0004 a0001c0005 others(16): Show a0001c0002 a0001c0004 a0001c0005 a0001c0011 a0001c0016 a0001c0023 a0002c0001 a0002c0020 a0003c0003 a0003c0025 a0004c0006 a0004c0007 a0004c0018 a0004c0022 a0005c0008 a0008c0021 a0014c0028 a0015c0017 a0017c0027	a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 others(34): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0013 a0001c0002t0017 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0004t0002 a0001c0004t0004 a0001c0005t0002 a0001c0005t0006 a0001c0005t0010 a0001c0011t0003 a0001c0016t0005 a0001c0023t0004 a0002c0001t0001 a0002c0001t0014 a0002c0001t0025 a0002c0001t0027 a0002c0001t0028 a0002c0020t0001 a0003c0003t0002 a0003c0003t0011 a0003c0025t0018 a0004c0006t0001 a0004c0006t0003 a0004c0007t0001 a0004c0018t0001 a0004c0022t0001 a0005c0008t0008 a0008c0021t0001 a0014c0028t0003 a0015c0017t0013 a0017c0027t0003	a0001c0002t0003g0002 a0001c0002t0003g0004 a0001c0002t0003g0013 others(105): Show a0001c0002t0003g0002 a0001c0002t0003g0004 a0001c0002t0003g0013 a0001c0002t0003g0026 a0001c0002t0003g0034 a0001c0002t0003g0048 a0001c0002t0003g0059 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0089 a0001c0002t0003g0110 a0001c0002t0003g0111 a0001c0002t0003g0126 a0001c0002t0003g0130 a0001c0002t0003g0139 a0001c0002t0003g0144 a0001c0002t0003g0148 a0001c0002t0003g0175 a0001c0002t0005g0010 a0001c0002t0005g0129 a0001c0002t0005g0131 a0001c0002t0007g0011 a0001c0002t0009g0020 a0001c0002t0009g0136 a0001c0002t0013g0142 a0001c0002t0017g0055 a0001c0002t0021g0137 a0001c0002t0022g0177 a0001c0002t0023g0078 a0001c0002t0024g0140 a0001c0004t0002g0031 a0001c0004t0002g0047 a0001c0004t0002g0115 a0001c0004t0004g0006 a0001c0004t0004g0007 a0001c0004t0004g0016 a0001c0004t0004g0024 a0001c0004t0004g0030 a0001c0004t0004g0037 a0001c0004t0004g0060 a0001c0004t0004g0066 a0001c0004t0004g0084 a0001c0004t0004g0112 a0001c0004t0004g0119 a0001c0004t0004g0169 a0001c0004t0004g0170 a0001c0004t0004g0171 a0001c0005t0002g0063 a0001c0005t0006g0079 a0001c0005t0010g0019 a0001c0011t0003g0035 a0001c0016t0005g0125 a0001c0023t0004g0058 a0002c0001t0001g0001 a0002c0001t0001g0009 a0002c0001t0001g0015 a0002c0001t0001g0018 a0002c0001t0001g0025 a0002c0001t0001g0032 a0002c0001t0001g0036 a0002c0001t0001g0051 a0002c0001t0001g0057 a0002c0001t0001g0062 a0002c0001t0001g0067 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0090 a0002c0001t0001g0095 a0002c0001t0001g0121 a0002c0001t0001g0143 a0002c0001t0001g0145 a0002c0001t0001g0146 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0151 a0002c0001t0001g0154 a0002c0001t0001g0168 a0002c0001t0014g0049 a0002c0001t0025g0133 a0002c0001t0027g0134 a0002c0001t0028g0127 a0002c0020t0001g0132 a0003c0003t0002g0012 a0003c0003t0002g0046 a0003c0003t0002g0050 a0003c0003t0002g0053 a0003c0003t0002g0118 a0003c0003t0002g0128 a0003c0003t0002g0141 a0003c0003t0002g0147 a0003c0003t0002g0167 a0003c0003t0011g0045 a0003c0025t0018g0082 a0004c0006t0001g0061 a0004c0006t0001g0114 a0004c0006t0001g0138 a0004c0006t0003g0120 a0004c0007t0001g0113 a0004c0007t0001g0123 a0004c0018t0001g0085 a0004c0022t0001g0122 a0005c0008t0008g0021 a0005c0008t0008g0083 a0008c0021t0001g0135 a0014c0028t0003g0077 a0015c0017t0013g0076 a0017c0027t0003g0176	295	438	0.6735	-26	c.-4+ others(41): Show c.-4+3551_-4+3576delGTGGGGTGGGCTGAACTGGGCAGCGG		CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	1/1						chr3	TogoVar
CPNE3_chr8_86509435_86566498	86531645	GTCAATGA others(19): Show GTCAATGAACCTATAAACTCTTTACCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG00735.hp2 others(46): Show HG00099.hp2 HG00733.hp1 HG00735.hp2 HG01070.hp1 HG01175.hp2 HG01255.hp2 HG01433.hp1 HG02055.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02258.hp1 HG02559.hp1 HG02683.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03927.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18941.hp1 NA18965.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp2 NA18992.hp2 NA18998.hp1 NA19012.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19075.hp1 NA19079.hp1 NA20129.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0010	a0001c0002 a0001c0008 a0002c0005 others(2): Show a0001c0002 a0001c0008 a0002c0005 a0008c0012 a0010c0011	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(14): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0014 a0001c0002t0019 a0001c0008t0002 a0001c0008t0004 a0002c0005t0004 a0002c0005t0005 a0008c0012t0005 a0010c0011t0005	a0001c0002t0001g0303 a0001c0002t0001g0310 a0001c0002t0001g0319 others(45): Show a0001c0002t0001g0303 a0001c0002t0001g0310 a0001c0002t0001g0319 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0002g0299 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0309 a0001c0002t0002g0311 a0001c0002t0002g0313 a0001c0002t0002g0318 a0001c0002t0002g0328 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0002g0332 a0001c0002t0002g0335 a0001c0002t0002g0337 a0001c0002t0003g0308 a0001c0002t0003g0316 a0001c0002t0003g0334 a0001c0002t0004g0300 a0001c0002t0004g0301 a0001c0002t0004g0336 a0001c0002t0005g0325 a0001c0002t0005g0326 a0001c0002t0006g0292 a0001c0002t0006g0293 a0001c0002t0007g0317 a0001c0002t0009g0295 a0001c0002t0009g0315 a0001c0002t0010g0302 a0001c0002t0014g0296 a0001c0002t0019g0294 a0001c0008t0002g0297 a0001c0008t0004g0298 a0002c0005t0004g0333 a0002c0005t0005g0003 a0002c0005t0005g0186 a0002c0005t0005g0304 a0002c0005t0005g0320 a0002c0005t0005g0327 a0002c0005t0005g0331 a0008c0012t0005g0314 a0010c0011t0005g0312	49	338	0.1450	-26	c.387 others(41): Show c.387+420_387+445delATGAACCTATAAACTCTTTACCATCA		CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131717882	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	72	0.0139	-26	c.360 others(43): Show c.360+5538_360+5563delAAGAAAGAAAGAAAGAAAGAAAGAAA		CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	3/15						chr3	TogoVar

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